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12. Uni Ulm intern - das Ulmer Universitätsmagazin, Nr. 353 (50 Jg.), September 2020

Author

Universität Ulm

Subjects
ddc:050, DDC 050 / General serial publications, Botanischer Garten, Corona-Chronik: Uni im Krisenmodus, Corona-Kinderstudie, Universities, Germany, Ulm, Kavli-Preis, Universität Ulm, Uni im Krisenmodus [Corona-Chronik], Universities and colleges
Abstract

uni ulm intern - das Ulmer Universitätsmagazin mit Themen aus Forschung, Lehre und vom Campus, uni ulm intern, Das Ulmer Universitätsmagazin mit Themen aus Forschung, Lehre und vom Campus, Heft Nr. 353 (50. Jahrgang), September 2020

Published
2020
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13. Uni Ulm intern - das Ulmer Universitätsmagazin, Nr. 349 (49. Jg.), August 2019

Author

Universität Ulm

Subjects
ddc:050, Bauen für die Wissenschaft, DDC 050 / General serial publications, Onlinetest für Computerspielsucht, Data Science, Wissenschaftspreis, Universities, Germany, Ulm, Universität Ulm, Universities and colleges
Abstract

uni ulm intern - das Ulmer Universitätsmagazin mit Themen aus Forschung, Lehre und vom Campus, uni ulm intern, Das Ulmer Universitätsmagazin mit Themen aus Forschung, Lehre und vom Campus, Heft Nr. 349 (49. Jahrgang), August 2019

Published
2019
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14. Uni Ulm intern - das Ulmer Universitätsmagazin, Nr. 347 (49. Jg), Februar/März 2019

Author

Universität Ulm

Subjects
ddc:050, Lehre im Fokus: Vom Tutorium bis zum digitalen Coach, DDC 050 / General serial publications, Energie für die Mobilität der Zukunft, Vom Tutorium bis zum digitalen Coach [Lehre im Fokus], Mission Statement, Universities, Germany, Ulm, Trauma SFB verlängert, Universität Ulm, Universities and colleges
Abstract

uni ulm intern - das Ulmer Universitätsmagazin mit Themen aus Forschung, Lehre und vom Campus, uni ulm intern, Das Ulmer Universitätsmagazin mit Themen aus Forschung, Lehre und vom Campus, Heft Nr. 347 (49. Jahrgang), Februar/März 2019

Published
2019
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15. Konzeptionelle Grundlagen für eine säulenübergreifende Altersvorsorgeinformation

Author

Aon, Universität Ulm, Institut für Versicherungswissenschaften, Bundesministerium für Arbeit und Soziales, Dietrich, Gundula, Geilenkothen, André, Zwiesler, Hans-Joachim, Bürger, Heike, Hölscher, Carsten, Knittl, Sabrina, Kohlbus, Maik, Noe, Isabel, Rach, Manuel, Teichmann, Thorsten, Thurnes, Georg, Aon, Universität Ulm, Institut für Versicherungswissenschaften, Bundesministerium für Arbeit und Soziales, Dietrich, Gundula, Geilenkothen, André, Zwiesler, Hans-Joachim, Bürger, Heike, Hölscher, Carsten, Knittl, Sabrina, Kohlbus, Maik, Noe, Isabel, Rach, Manuel, Teichmann, Thorsten, and Thurnes, Georg

Abstract

Ziel einer säulenübergreifenden Altersvorsorgeinformation ist es, jedem Bürger die Möglichkeit zu geben, sich einen Überblick über seine gesamte Altersvorsorge zu verschaffen. Ausreichende Informationen sind eine Voraussetzung, um eigenverantwortlich Entscheidungen über die Altersvorsorge zu treffen. Dies stellt in Deutschland eine besondere Herausforderung dar, weil es in der betrieblichen Altersversorgung mehrere 10.000 Vorsorgeeinrichtungen gibt, die eine große Produkt-Heterogenität aufweisen. Diese Studie zeigt auf, wie alle interessierten Bürger einen aktuellen und verständlichen Gesamtüberblick über ihre Altersvorsorgeprodukte und die erreichten sowie erreichbaren Leistungen erhalten können. Zusätzlich diskutieren wir, wie im Rahmen einer Modellrechnung eine aggregierte monatliche lebenslange Gesamtrente in heutiger Kaufkraft ermittelt und dargestellt werden könnte. Die Bereitstellung der Daten auf einer Informationsplattform soll durch die jeweiligen Vorsorgeeinrichtungen unter Verwendung standardisierter Datensätze aus den bestehenden Mitteilungspflichten erfolgen. Besondere Herausforderungen bestehen insbesondere bei der Festlegung geeigneter Identifikationskennzeichen für die personenindividuelle Zuordnung der Vorsorgeinformationen sowie bei der Anbindung vieler kleinerer Vorsorgeeinrichtungen. Organisatorisch sollte die Plattform gemeinschaftlich vom Staat und von den Vorsorgeeinrichtungen getragen werden. Wir schlagen die schrittweise Einführung der säulenübergreifenden Altersvorsorgeinformation vor und empfehlen, zeitnah mit reduziertem Informationsumfang unter Einbeziehung der größeren Vorsorgeeinrichtungen zu starten sowie eine sukzessive Ausweitung vorzusehen. Auf dieser Basis kann das Ziel kosteneffizient erreicht werden und durch die Einführung der säulenübergreifenden Altersvorsorgeinformation ein massiver Nutzen im Hinblick auf die Informationsmöglichkeiten über die Altersvorsorge der Bürger gestiftet werden. Für die Umsetzung sollten zunächst di, The objective of a single combined retirement information platform across all pillars is to give users an overview of their total retirement income. For taking appropriate decisions concerning retirement provisions adequate information is prerequisite. This is particularly challenging as Germany features some 10,000 plan sponsors with very heterogeneous pension products within occupational pensions. We analyze how users get an overview of their retirement income based on aggregated information about their potential monthly annuity at retirement. Additionally, we discuss how this annuity could be translated into today's purchase power. This will be based on data provided by the various retirement plan providers - using a standardized data format and existing information requirements. Main challenges are determining a suitable identifier and integrating the many very small pension plan sponsors. The platform should be supported jointly by the government and the various retirement plan providers. We recommend a step-by-step introduction - to start with a reduced level of information and having at least the major retirement plan providers involved. Content and participation level of providers should be gradually extended. In this way a cost-efficient information platform on retirement income across all pillars can be achieved - creating a material benefit for all users, especially regarding the available information level on retirement income. For a successful implementation some basic decisions on the overall concept need to be made first, followed by defining the legal entity to be assigned with the set-up of the platform.

Published
2019

16. Konzeptionelle Grundlagen für eine säulenübergreifende Altersvorsorgeinformation: Zusammenfassung

Author

Aon, Universität Ulm, Institut für Versicherungswissenschaften, Bundesministerium für Arbeit und Soziales, Dietrich, Gundula, Geilenkothen, André, Zwiesler, Hans-Joachim, Bürger, Heike, Hölscher, Hölscher, Knittl, Sabrina, Kohlbus, Maik, Noe, Isabel, Rach, Manuel, Teichmann, Thorsten, Thurnes, Georg, Aon, Universität Ulm, Institut für Versicherungswissenschaften, Bundesministerium für Arbeit und Soziales, Dietrich, Gundula, Geilenkothen, André, Zwiesler, Hans-Joachim, Bürger, Heike, Hölscher, Hölscher, Knittl, Sabrina, Kohlbus, Maik, Noe, Isabel, Rach, Manuel, Teichmann, Thorsten, and Thurnes, Georg

Abstract

Das Ziel der Einführung einer säulenübergreifenden Altersvorsorgeinformation kann in absehbarer Zeit erreicht werden - dies ist die zentrale Quintessenz der vorliegenden Studie.

Published
2019

17. Uni Ulm intern - das Ulmer Universitätsmagazin, Nr. 343 (48. Jg.), Februar 2018

Author

Universität Ulm

Subjects
ddc:050, Fernsehen schadet dem Kinderschlaf, 40 Jahre Uni-Segelclub, DDC 050 / General serial publications, Lehre und Lernen 4.0: Zwischen Tablet und Tafel, Universities, Germany, Ulm, Zwischen Tablet und Tafel [Lehre und Lernen 4.0], Basketballprofi und Student, Universität Ulm, Universities and colleges
Abstract

uni ulm intern - das Ulmer Universitätsmagazin mit Themen aus Forschung, Lehre und vom Campus, uni ulm intern - Das Ulmer Universitätsmagazin, Heft Nr. 343 (48. Jahrgang), Februar 2018

Published
2018
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18. Investigation of the light propagation in the human forearm

Author

Universität Ulm, Cojocaru, Crina, Fugger, Oliver, Zoller, Christian, Vázquez Martín, Irene, Universität Ulm, Cojocaru, Crina, Fugger, Oliver, Zoller, Christian, and Vázquez Martín, Irene

Abstract

En col·laboració amb la Universitat Autònoma de Barcelona (UAB), la Universitat de Barcelona (UB) i l’Institut de Ciències Fotòniques (ICFO), In the present study it is investigated the applicability of spectrally resolved reflectance at a certain distance from the incident beam to determine the optical coefficients of multi-layered tissues. The main motivation of this investigation is to achieve the simplest multi-layered model as possible which describes, within a given tolerance range, the light propagation in human forearm and its optical properties. For getting to this end it is investigated which assumptions within the model are acceptable. We found out that the thickness of the first layer in a two-layered model is a parameter suitable to be fixed, as it does not have a large negative influence on the fitting-results, and that it is expected to obtain better results with an absolute fit than with a relative one. Furthermore, this investigation was complemented with experimental spectrally resolved reflectance measurements performed on tissue-simulating phantoms of known optical properties and on human forearms by using optical fibers at different distances to deliver and detect reflected light by means of a CCD camera.

Published
2017

19. Hydrodynamic dispersion of pressure-induced and electroosmotic flow in porous glasses probed by Nuclear Magnetic Resonance

Author

Universität Ulm, Universität Leipzig, Li, Yujie, Farrherr, German, Kimmich, Rainer, Universität Ulm, Universität Leipzig, Li, Yujie, Farrherr, German, and Kimmich, Rainer

Abstract

Fluid transport by flow in random porous media is subject to hydrodynamic dispersion. In a series of pulsed field-gradient NMR experiments, we have compared flow induced by pressure gradients on the one hand and by electroosmosis on the other. The media were porous glasses with pore dimensions from 1 to 100 μm. With increasing flow rates, a crossover from subdiffusive to superdiffusive mean-squared displacement laws was observed in both cases. This demonstrates the competition between molecular diffusion and convection, and is a typical example of anomalous transport.

Published
2016

20. Changes of bivalent chromatin coincide with increased expression of developmental genes in cancer

Author

Universität Leipzig, Fakultät für Mathematik und Informatik, Universität Leipzig, Medizinische Fakultät, Ludwig-Maximilians-Universität, Universitätsklinikum, Inserm, U110 - Institut de Recherche sur les Maladies Virales et Hépatiques, Université de Strasbourg, Christian-Albrechts-Universität, Universitätsklinikum, Universität Ulm, Universitätsklinikum, Universität Wien, Fakultät für Chemie, Max-Planck-Institut für Mathematik in den Naturwissenschaften, Santa Fe Institute, Nature Publishing Group, Bernhart, Stephan H., Kretzmer, Helene, Holdt, Lesca M., Jühling, Frank, Ammerpohl, Ole, Bergmann, Anke K., Northoff, Bernd H., Doose, Gero, Siebert, Reiner, Stadler, Peter F., Hoffmann, Steve, Universität Leipzig, Fakultät für Mathematik und Informatik, Universität Leipzig, Medizinische Fakultät, Ludwig-Maximilians-Universität, Universitätsklinikum, Inserm, U110 - Institut de Recherche sur les Maladies Virales et Hépatiques, Université de Strasbourg, Christian-Albrechts-Universität, Universitätsklinikum, Universität Ulm, Universitätsklinikum, Universität Wien, Fakultät für Chemie, Max-Planck-Institut für Mathematik in den Naturwissenschaften, Santa Fe Institute, Nature Publishing Group, Bernhart, Stephan H., Kretzmer, Helene, Holdt, Lesca M., Jühling, Frank, Ammerpohl, Ole, Bergmann, Anke K., Northoff, Bernd H., Doose, Gero, Siebert, Reiner, Stadler, Peter F., and Hoffmann, Steve

Abstract

Bivalent (poised or paused) chromatin comprises activating and repressing histone modifications at the same location. This combination of epigenetic marks at promoter or enhancer regions keeps genes expressed at low levels but poised for rapid activation. Typically, DNA at bivalent promoters is only lowly methylated in normal cells, but frequently shows elevated methylation levels in cancer samples. Here, we developed a universal classifier built from chromatin data that can identify cancer samples solely from hypermethylation of bivalent chromatin. Tested on over 7,000 DNA methylation data sets from several cancer types, it reaches an AUC of 0.92. Although higher levels of DNA methylation are often associated with transcriptional silencing, counter-intuitive positive statistical dependencies between DNA methylation and expression levels have been recently reported for two cancer types. Here, we re-analyze combined expression and DNA methylation data sets, comprising over 5,000 samples, and demonstrate that the conjunction of hypermethylation of bivalent chromatin and up-regulation of the corresponding genes is a general phenomenon in cancer. This up-regulation affects many developmental genes and transcription factors, including dozens of homeobox genes and other genes implicated in cancer. Thus, we reason that the disturbance of bivalent chromatin may be intimately linked to tumorigenesis.

Published
2016

21. Changes of bivalent chromatin coincide with increased expression of developmental genes in cancer

Author

Universität Leipzig, Ludwig-Maximilians-Universität, Inserm, U110 - Institut de Recherche sur les Maladies Virales et Hépatiques, Université de Strasbourg, Christian-Albrechts-Universität, Universität Ulm, Universität Wien, Max-Planck-Institut für Mathematik in den Naturwissenschaften, Santa Fe Institute, Nature Publishing Group, Bernhart, Stephan H., Kretzmer, Helene, Holdt, Lesca M., Jühling, Frank, Ammerpohl, Ole, Bergmann, Anke K., Northoff, Bernd H., Doose, Gero, Siebert, Reiner, Stadler, Peter F., Hoffmann, Steve, Universität Leipzig, Ludwig-Maximilians-Universität, Inserm, U110 - Institut de Recherche sur les Maladies Virales et Hépatiques, Université de Strasbourg, Christian-Albrechts-Universität, Universität Ulm, Universität Wien, Max-Planck-Institut für Mathematik in den Naturwissenschaften, Santa Fe Institute, Nature Publishing Group, Bernhart, Stephan H., Kretzmer, Helene, Holdt, Lesca M., Jühling, Frank, Ammerpohl, Ole, Bergmann, Anke K., Northoff, Bernd H., Doose, Gero, Siebert, Reiner, Stadler, Peter F., and Hoffmann, Steve

Abstract

Bivalent (poised or paused) chromatin comprises activating and repressing histone modifications at the same location. This combination of epigenetic marks at promoter or enhancer regions keeps genes expressed at low levels but poised for rapid activation. Typically, DNA at bivalent promoters is only lowly methylated in normal cells, but frequently shows elevated methylation levels in cancer samples. Here, we developed a universal classifier built from chromatin data that can identify cancer samples solely from hypermethylation of bivalent chromatin. Tested on over 7,000 DNA methylation data sets from several cancer types, it reaches an AUC of 0.92. Although higher levels of DNA methylation are often associated with transcriptional silencing, counter-intuitive positive statistical dependencies between DNA methylation and expression levels have been recently reported for two cancer types. Here, we re-analyze combined expression and DNA methylation data sets, comprising over 5,000 samples, and demonstrate that the conjunction of hypermethylation of bivalent chromatin and up-regulation of the corresponding genes is a general phenomenon in cancer. This up-regulation affects many developmental genes and transcription factors, including dozens of homeobox genes and other genes implicated in cancer. Thus, we reason that the disturbance of bivalent chromatin may be intimately linked to tumorigenesis.

Published
2016

24. Manifestation allergischer Krankheiten bei jungen Erwachsenen in Zusammenhang mit dem Eintritt in das Berufsleben - Untersuchungen zur Abhängigkeit von arbeitsbedingten Faktoren unter Berücksichtigung von Vorerkrankungen, Disposition und außerberuflichen Umweltfaktoren und Ableitung von Vorschlägen zur verbesserten Prävention: Studie in Ost- und Westdeutschland zu beruflichen Allergierisiken - SOLAR II -; Abschlussbericht

Author

Bundesministerium für Arbeit und Soziales, Klinikum der Universität München, Universitätsklinikum Carl Gustav Carus Dresden, Universität Ulm, Medizinische Fak., Institut für Epidemiologie und Medizinische Biometrie, Kellberger, J., Peters-Weist, A., Heinrich, S., Brückner, U., Kolb, S., Braun, E., Nowak, D., Radon, K., Mutius, E. von, Brzozowski, B., Ellenberg, D., Kirsten, D., Vogelberg, C., Genuneit, J., Weinmayr, G., Fischer, T., Bundesministerium für Arbeit und Soziales, Klinikum der Universität München, Universitätsklinikum Carl Gustav Carus Dresden, Universität Ulm, Medizinische Fak., Institut für Epidemiologie und Medizinische Biometrie, Kellberger, J., Peters-Weist, A., Heinrich, S., Brückner, U., Kolb, S., Braun, E., Nowak, D., Radon, K., Mutius, E. von, Brzozowski, B., Ellenberg, D., Kirsten, D., Vogelberg, C., Genuneit, J., Weinmayr, G., and Fischer, T.

Abstract

SOLAR II ist das zweite Follow-up einer bevölkerungsbezogenenden Kohorten-Studie. Diese Studie basiert auf einer Kohorte, die 1995/1996 aus damals 9-11jährigen Kindern aus Dresden und München zusammengestellt wurde. Die inzwischen erwachsenen Teilnehmer wurden nun erneut mit dem Ziel untersucht, Zusammenhänge zwischen beruflichen Expositionen und Allergien und Atemwegserkrankungen zu ermitteln. Ein Schwerpunkt der Auswertung galt der Frage, wie sich aus Risikofaktoren, die bereits in der Kindheit erkennbar sind, vorhersagen lässt, dass sich bei Tätigkeitsbeginn in Berufen mit hoher Exposition eine Allergie oder eine Atemwegserkrankung entwickeln wird. Mit den Ergebnissen der Studie kann nicht begründet werden, Jugendlichen mit Risikofaktoren für allergische Atemwegserkrankungen grundsätzlich von Tätigkeiten mit hohem Expositions-Potenzial abzuraten. Die Autoren sprechen sich aber für eine engmaschige arbeitsmedizinische Betreuung junger Erwachsener aus, die am Beginn einer solchen Tätigkeit stehen.

Published
2016

25. The psychometric properties of the German version of the WHOQOL-OLD in the German population aged 60 and older

Author

Universität Leipzig, Universität Hamburg, Universität Ulm, Conrad, Ines, Matschinger, Herbert, Riedel-Heller, Steffi, von Gottberg, Carolin, Kilian, Reinhold, Universität Leipzig, Universität Hamburg, Universität Ulm, Conrad, Ines, Matschinger, Herbert, Riedel-Heller, Steffi, von Gottberg, Carolin, and Kilian, Reinhold

Abstract

Background: The WHOQOL-OLD is an instrument for the assessment of subjective quality of life in elderly people. It is based on the WHO definition of quality of life and is available in more than 20 languages. However, in most countries, the psychometric properties of the WHOQOL-OLD have been assessed only on the basis of small local samples and not in representative studies. In this study, the psychometric properties of the WHOQOL-OLD are evaluated based on a representative sample of Germany\''s elderly population. Methods: Face-to-face interviews with 1133 respondents from the German population aged 60 years and older were conducted. Quality of life was assessed by means of the WHOQOL-BREF, the WHOQOL-OLD and the SF12. Moreover, the GDS, the DemTect and the IADL were applied for the assessment of depressive symptoms, cognitive capacities and capacity for carrying out daily activities. Psychometric properties of the WHOQOL-OLD were evaluated by means of classical and probabilistic test theory, confirmatory factor analysis and multivariate regression model.Results: Cronbach\''s alpha was found to be above 0.85 for four and above .75 for two of the six facets of the WHOQOL-OLD. IRT analyses indicated that all items of the WHOQOL-OLD contribute considerably to the measurement of the associated facets. While the six-facet structure of the WHOQOL-OLD was well supported by the results of the confirmatory factor analysis, a common latent factor for the WHOQOL-OLD total scale could not be identified. Correlations with other quality of life measures and multivariate regression models with GDS, IADL and the DemTect indicate a good criterion validity of all six WHOQOL-OLD facets.Conclusions: Study results confirm that the good psychometric properties of the WHOQOL-OLD that have been found in international studies could be replicated in a representative study of the German population. These results suggest that the WHOQOL-OLD is an instrument that is well suited to identify the

Published
2014

26. The Solvency II square-root formula for systematic biometric risk

Author

UCL - SSH/IMMAQ/ISBA - Institut de Statistique, Biostatistique et Sciences Actuarielles, Universität Ulm, Germany - Institut für Versicherungswissenschaften, Babes-Bolyai University, Romania - Faculty of Economics and Business Administration, Christiansen, Marcus C., Denuit, Michel, Lazar, Dorina, UCL - SSH/IMMAQ/ISBA - Institut de Statistique, Biostatistique et Sciences Actuarielles, Universität Ulm, Germany - Institut für Versicherungswissenschaften, Babes-Bolyai University, Romania - Faculty of Economics and Business Administration, Christiansen, Marcus C., Denuit, Michel, and Lazar, Dorina

Abstract

In this paper, we develop a model supporting the so-called square-root formula used in Solvency II to aggregate the modular life SCR. Describing the insurance policy by a Markov jump process, we can obtain expressions similar to the square-root formula in Solvency II by means of limited expansions around the best estimate. Numerical illustrations are given, based on German population data. Even if the square-root formula can be supported by theoretical considerations, it is shown that the QIS correlation matrix is highly questionable

Published
2012

27. New results for the EIE-Surveyor project

Author

SA-IGA ; Grenoble Images Parole Signal Automatique (GIPSA-lab) ; CNRS - Université Joseph Fourier - Grenoble I - Université Pierre-Mendès-France - Grenoble II - Université Stendhal - Grenoble III - Institut Polytechnique de Grenoble - Grenoble Institute of Technology - CNRS - Université Joseph Fourier - Grenoble I - Université Pierre-Mendès-France - Grenoble II - Université Stendhal - Grenoble III - Institut Polytechnique de Grenoble - Grenoble Institute of Technology, Centre de recherche en automatique de Nancy (CRAN) ; CNRS - Université Henri Poincaré - Nancy I - Institut National Polytechnique de Lorraine (INPL), Instituto Superior Tecnico [Lisboa] (IST) ; Universidade de Lisboa, University of York [York] ; University of York, Dispositifs électroniques (DE) ; Institut d'Electronique et de Télécommunications de Rennes (IETR) ; CNRS - SUPELEC - Université de Rennes 1 - Institut National des Sciences Appliquées (INSA) - Rennes - CNRS - SUPELEC - Université de Rennes 1 - Institut National des Sciences Appliquées (INSA) - Rennes - Institut d'Electronique et de Télécommunications de Rennes (IETR) ; Université de Nantes - SUPELEC - Université de Rennes 1 - Institut National des Sciences Appliquées (INSA) - Rennes - CNRS - Université de Nantes, Universität Ulm, Institut für Mikrowellentechnik ; Universität Ulm, Institut für Mikrowellentechnik, Ampère ; Université Claude Bernard - Lyon I (UCBL) - Ecole Centrale de Lyon - Institut National des Sciences Appliquées [INSA] - Lyon - CNRS, Laboratoire d'études de l'intégration des composants et systèmes électroniques (IXL) ; CNRS - Université Sciences et Technologies - Bordeaux I - École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB), Projet européen Réseau Thématique EIE-Surveyor, EAEEIE, Thiriet, Jean-Marc, Robert, Michel, Martins, Maria João, Ward, Anthony E., Bonnaud, Olivier, Hoffmann, Michael, Yahoui, Hamed, Fremont, Hélène, SA-IGA ; Grenoble Images Parole Signal Automatique (GIPSA-lab) ; CNRS - Université Joseph Fourier - Grenoble I - Université Pierre-Mendès-France - Grenoble II - Université Stendhal - Grenoble III - Institut Polytechnique de Grenoble - Grenoble Institute of Technology - CNRS - Université Joseph Fourier - Grenoble I - Université Pierre-Mendès-France - Grenoble II - Université Stendhal - Grenoble III - Institut Polytechnique de Grenoble - Grenoble Institute of Technology, Centre de recherche en automatique de Nancy (CRAN) ; CNRS - Université Henri Poincaré - Nancy I - Institut National Polytechnique de Lorraine (INPL), Instituto Superior Tecnico [Lisboa] (IST) ; Universidade de Lisboa, University of York [York] ; University of York, Dispositifs électroniques (DE) ; Institut d'Electronique et de Télécommunications de Rennes (IETR) ; CNRS - SUPELEC - Université de Rennes 1 - Institut National des Sciences Appliquées (INSA) - Rennes - CNRS - SUPELEC - Université de Rennes 1 - Institut National des Sciences Appliquées (INSA) - Rennes - Institut d'Electronique et de Télécommunications de Rennes (IETR) ; Université de Nantes - SUPELEC - Université de Rennes 1 - Institut National des Sciences Appliquées (INSA) - Rennes - CNRS - Université de Nantes, Universität Ulm, Institut für Mikrowellentechnik ; Universität Ulm, Institut für Mikrowellentechnik, Ampère ; Université Claude Bernard - Lyon I (UCBL) - Ecole Centrale de Lyon - Institut National des Sciences Appliquées [INSA] - Lyon - CNRS, Laboratoire d'études de l'intégration des composants et systèmes électroniques (IXL) ; CNRS - Université Sciences et Technologies - Bordeaux I - École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB), Projet européen Réseau Thématique EIE-Surveyor, EAEEIE, Thiriet, Jean-Marc, Robert, Michel, Martins, Maria João, Ward, Anthony E., Bonnaud, Olivier, Hoffmann, Michael, Yahoui, Hamed, and Fremont, Hélène

Abstract

4 pages, International audience, The EIE-Surveyor ERASMUS thematic network has been launched in October 2005 for three years, the end will be in 2008. The purpose of this paper is to present a state of development of the outcomes developed within the project as well as the dissemination policy. This gives an overview of the results of the project, which are available freely from the web-site www.eie-surveyor.org

29. Production and processing of graphene and related materials

Author

Backes, Abdelkader, A.M., Alonso, Andrieux-Ledier, Arenal, Azpeitia, Balakrishnan, Banszerus, Barjon, Bartali, Bellani, Berger, Ortega, M.M.B., Bernard, Beton, P.H., Beyer, Bianco, B?ggild, Bonaccorso, Barin, G.B., Botas, Bueno, R.A., Carriazo, Castellanos-Gomez, Christian, Ciesielski, Ciuk, Cole, M.T., Coleman, Coletti, Crema, Cun, Dasler, De Fazio, D?ez, Drieschner, Duesberg, G.S., Fasel, Feng, Fina, Forti, Galiotis, Garberoglio, Garc?a, J.M., Garrido, J.A., Gibertini, G?lzh?user, G?mez, Greber, Hauke, Hemmi, Hernandez-Rodriguez, Hirsch, Hodge, S.A., Huttel, Jepsen, P.U., Jimenez, Kaiser, Kaplas, Kim, Kis, Papagelis, Kostarelos, Krajewska, Lee, Lipsanen, Liscio, Lohe, M.R., Loiseau, Lombardi, L?pez, M.F., Martin, Mart?n, Mart?nez, Martin-Gago, J.I., Marzari, Mayoral, McManus, Melucci, M?ndez, Merino, Meyer, A.P., Miniussi, Miseikis, Mishra, Morandi, Munuera, Mu?oz, Nolan, Ortolani, Ott, A.K., Palacio, Palermo, Parthenios, Pasternak, Patane, Prato, Prevost, Prudkovskiy, Pugno, Rojo, Rossi, Ruffieux, Samor?, Schu?, Setijadi, Seyller, Speranza, Stampfer, Stenger, Strupinski, Svirko, Taioli, Teo, K.B.K., Testi, Tomarchio, Tortello, Treossi, Turchanin, Vazquez, Villaro, Whelan, P.R., Xia, Yakimova, Yang, Yazdi, G.R., Yim, Yoon, Zhang, Zhuang, Colombo, Ferrari, A.C., Garcia-Hernandez, European Commission, García-Hernández, M., Apollo - University of Cambridge Repository, Heidelberg University, University of Cambridge, Universidad Autónoma de Madrid, Université Paris-Saclay, Aragonese Foundation for Research & Development, CSIC, University of Nottingham, RWTH Aachen University, Université de Versailles Saint-Quentin-en-Yvelines, Bruno Kessler Foundation, Italian Institute of Technology, Université Grenoble Alpes, Technische Universität Dresden, Polytechnic University of Turin, University of Zurich, Bielefeld University, Université de Strasbourg, Technical University of Denmark, Swiss Federal Laboratories for Materials Science and Technology, CIC energigune, National Research Council of Italy, Institute of Electronic Materials Technology, University of Bath, Trinity College Dublin, Friedrich-Alexander University Erlangen-Nürnberg, Technical University of Munich, Universität der Bundeswehr München, University of Patras, CSIC - Institute of Micro and Nanotechnology, Catalan Institute of Nanoscience and Nanotechnology, Swiss Federal Institute of Technology Lausanne, Avanzare S.L. Technological Innovation, Ulm University, University of Eastern Finland, Institute of Chemical Engineering and High Temperature Chemical Processes, University of Manchester, Polish Academy of Sciences, Department of Electronics and Nanoengineering, University of Castilla-La Mancha, University of Zaragoza, Groupo Antolin I+D+I, Warsaw University of Technology, Ikerbasque Basque Foundation for Science, BEC-INFM, Chemnitz University of Technology, Charles University, Buckingway Business Park, Friedrich Schiller University Jena, Interquimica, Linköping University, University of Texas at Dallas, Aalto-yliopisto, Aalto University, Backes, C., Abdelkader, A. M., Alonso, C., Andrieux-Ledier, A., Arenal, R., Azpeitia, J., Balakrishnan, N., Banszerus, L., Barjon, J., Bartali, R., Bellani, S., Berger, C., Berger, R., Ortega, M. M. B., Bernard, C., Beton, P. H., Beyer, A., Bianco, A., Boggild, P., Bonaccorso, F., Barin, G. B., Botas, C., Bueno, R. A., Carriazo, D., Castellanos-Gomez, A., Christian, M., Ciesielski, A., Ciuk, T., Cole, M. T., Coleman, J., Coletti, C., Crema, L., Cun, H., Dasler, D., De Fazio, D., Diez, N., Drieschner, S., Duesberg, G. S., Fasel, R., Feng, X., Fina, A., Forti, S., Galiotis, C., Garberoglio, G., Garcia, J. M., Garrido, J. A., Gibertini, M., Golzhauser, A., Gomez, J., Greber, T., Hauke, F., Hemmi, A., Hernandez-Rodriguez, I., Hirsch, A., Hodge, S. A., Huttel, Y., Jepsen, P. U., Jimenez, I., Kaiser, U., Kaplas, T., Kim, H., Kis, A., Papagelis, K., Kostarelos, K., Krajewska, A., Lee, K., Li, C., Lipsanen, H., Liscio, A., Lohe, M. R., Loiseau, A., Lombardi, L., Lopez, M. F., Martin, O., Martin, C., Martinez, L., Martin-Gago, J. A., Martinez, J. I., Marzari, N., Mayoral, A., Mcmanus, J., Melucci, M., Mendez, J., Merino, C., Merino, P., Meyer, A. P., Miniussi, E., Miseikis, V., Mishra, N., Morandi, V., Munuera, C., Munoz, R., Nolan, H., Ortolani, L., Ott, A. K., Palacio, I., Palermo, V., Parthenios, J., Pasternak, I., Patane, A., Prato, M., Prevost, H., Prudkovskiy, V., Pugno, N., Rojo, T., Rossi, A., Ruffieux, P., Samori, P., Schue, L., Setijadi, E., Seyller, T., Speranza, G., Stampfer, C., Stenger, I., Strupinski, W., Svirko, Y., Taioli, S., Teo, K. B. K., Testi, M., Tomarchio, F., Tortello, M., Treossi, E., Turchanin, A., Vazquez, E., Villaro, E., Whelan, P. R., Xia, Z., Yakimova, R., Yang, S., Yazdi, G. R., Yim, C., Yoon, D., Zhang, X., Zhuang, X., Colombo, L., Ferrari, A. C., Garcia-Hernandez, M., Physikalisch-Chemisches Institut [Heidelberg] (PCI), Universität Heidelberg [Heidelberg] = Heidelberg University, Centre for Research on Adaptive Nanostructures and Nanodevices and Advanced Materials and BioEngineering Research (CRANN-AMBER), Cambridge Graphene Centre (Cambridge, UK), DPHY, ONERA, Université Paris Saclay (COmUE) [Châtillon], ONERA-Université Paris Saclay (COmUE), Instituto de Nanociencia de Aragón [Saragoza, España] (INA), University of Zaragoza - Universidad de Zaragoza [Zaragoza], Instituto de Ciencia de Materiales de Aragón [Saragoza, España] (ICMA-CSIC), Materials Science Factory - ICMM [Madrid], Instituto de Ciencia de Materiales de Madrid (ICMM), Consejo Superior de Investigaciones Científicas [Madrid] (CSIC)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), School of Physics and Astronomy [Nottingham], University of Nottingham, UK (UON), Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Groupe d'Etude de la Matière Condensée (GEMAC), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Centre National de la Recherche Scientifique (CNRS), Fondazione Bruno Kessler [Trento, Italy] (FBK), IIT Graphene Labs, Istituto Italiano di Tecnologia (IIT), Circuits électroniques quantiques Alpes (NEEL - QuantECA), Institut Néel (NEEL), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA), Georgia Institute of Technology [Atlanta], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Politecnico di Torino = Polytechnic of Turin (Polito), Universität Zürich [Zürich] = University of Zurich (UZH), Universität Bielefeld = Bielefeld University, Immunopathologie et chimie thérapeutique (ICT), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Danmarks Tekniske Universitet = Technical University of Denmark (DTU), BeDimensional Spa, Swiss Federal Laboratories for Materials Science and Technology [Thun] (EMPA), CIC ENERGIGUNE - Parque Tecnol Alava, Ikerbasque - Basque Foundation for Science, Institute for Microelectronics and Microsystems (IMM ), National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), Institut de Science et d'ingénierie supramoléculaires (ISIS), Université de Strasbourg (UNISTRA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Instytut Technologii Materiałów Elektronicznych, Department of Electronics and Electrical Engineering [Bath], University of Bath [Bath], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Walter Schottky Institut Technische Universität München, Universität der Bundeswehr München [Neubiberg], Swiss Federal Laboratories for Materials Science and Technology [Dübendorf] (EMPA), Center for Advancing Electronics in Dresden (CFAED), European Centre for Theoretical Studies in Nuclear Physics and Related Areas (ECT*-FBK), IMN-Instituto de Micro y Nanotecnología (CNM-CSIC), Isaac Newton 8, PTM, 28760 Tres Cantos, Madrid, Spain, Universidad de Alicante, Institut de théorie des phénomènes physiques (EPFL), Ecole Polytechnique Fédérale de Lausanne (EPFL), Avanzare Innovacion Tecnologica S.L., Center for Nanostructured Graphene, Universität Ulm - Ulm University [Ulm, Allemagne], Electrical Engineering Institute - EPFL, Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Institute of Chemical Engineering Sciences - Hellas [Crete] (ICE-HT), Foundation for Research and Technology - Hellas (FORTH), Aristotle University of Thessaloniki, University of Manchester [Manchester], Polish Academy of Sciences (PAN), LEM, UMR 104, CNRS-ONERA, Université Paris-Saclay (Laboratoire d'étude des microstructures), ONERA-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Universidad de Sevilla / University of Sevilla, Laboratoire de Physique de l'ENS Lyon (Phys-ENS), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Department of Materials Science and Engineering (DMSE), Massachusetts Institute of Technology (MIT), Institute of Organic Synthesis and Photoreactivity (ISOF), Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Instituto de Física Fundamental [Madrid] (IFF), Istituto per la Microelettronica e i Microsistemi [Bologna] (IMM), University of Exeter, Chalmers University of Technology [Göteborg], Warsaw University of Technology [Warsaw], Laboratoire national des champs magnétiques intenses - Toulouse (LNCMI-T), Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), University of Trento [Trento], School of Engineering and Materials Science [London] (SEMS), Queen Mary University of London (QMUL), Departamento de Química Inorgánica, Facultad de Ciencia y Tecnologia, Universidad del Pais Vasco / Euskal Herriko Unibertsitatea [Espagne] (UPV/EHU), Charles University [Prague] (CU), Friedrich-Schiller-Universität = Friedrich Schiller University Jena [Jena, Germany], Universidad de Castilla-La Mancha = University of Castilla-La Mancha (UCLM), University of Calgary, Department of Physics, Chemistry and Biology, Linköping University, University of Linköping [Sweden], University of Texas at Dallas [Richardson] (UT Dallas), Universität Heidelberg [Heidelberg], DPHY, ONERA, Université Paris Saclay [Châtillon], ONERA-Université Paris-Saclay, Consejo Superior de Investigaciones Científicas [Spain] (CSIC)-Consejo Superior de Investigaciones Científicas [Spain] (CSIC), QuantECA - Circuits électroniques quantiques Alpes, Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Technische Universität Dresden (TUD), Technical University of Denmark [Lyngby] (DTU), Consiglio Nazionale delle Ricerche (CNR), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et nanosciences d'Alsace, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Politecnico di Torino [Torino] (Polito), University of Patras [Patras], Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology in Zürich [Zürich] (ETH Zürich), LEM, UMR 104 CNRS-ONERA, Université Paris Saclay [Châtillon], Universidad de Sevilla, École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Consejo Superior de Investigaciones Científicas [Spain] (CSIC), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Charles University [Prague], Universidad de Castilla-La Mancha (UCLM), Autonomous University of Madrid, Faculty of Sciences, Department of Ecology, 28049 Madrid, Spain, Agencia Aragonesa por la Investigacion y el Desarollo (ARAID), Fundacion ARAID-Gobierno de Aragón [Zaragoza, Espagne], Laboratorio de Microscopias Avanzadas, JARA-FIT, Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Université Joseph Fourier - Grenoble 1 (UJF)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Université Joseph Fourier - Grenoble 1 (UJF)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Dipartimento di Scienza Applicata e Tecnologia DISAT, University of Zürich, University of Zürich [Zürich] (UZH), Physics of Supramolecular Systems (Bielefeld University), Immunologie et chimie thérapeutiques (ICT), Cancéropôle du Grand Est-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA)-Matériaux et nanosciences d'Alsace, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Center for Nanotechnology Innovation, @NEST, Chair of Organic Chemistry II and Joint Institute of Advanced Materials and Processes, Department of Chemistry and Biochemistry, University of Bern, University of Bern, Instituto de Micro y Nanotecnología, Univ Geneva, DQMP, 24 Quai Ernest, CH-1211 Geneva 4, Switzerland, Universität Ulm - Ulm University, Institute of Photonics (Institute of Photonics), University of Shanghai [Shanghai], Istituto per la Sintesi Organica e la Fotoreattività - ISOF (Bologne, Italie), Consiglio Nazionale delle Ricerche [Bologna] (CNR), ACM Advanced Carbon Materials (Grupo Antolin Ingenieria), INRES-Chemical Signalling, Rheinische Friedrich-Wilhelms-Universität Bonn, Carbon Bionanotechnology Laboratory (CICbiomaGUNE), Dipartimento di Scienze Farmaceutiche & INSTM UdR Trieste, Université Trieste, Department of Structural Engineering and Geotechnics, Edoardo Amaldi Foundation, Lehrstuhl für Technische Physik, Technisches Universität Chemnitz, Institute of Physical Chemistry (Firedrich Schiller University Jena), Linköping University (LIU), Department of Materials Science and Engineering (University of Texas), UAM. Departamento de Química Física Aplicada, Circuits électroniques quantiques Alpes (QuantECA), Université de Strasbourg (UNISTRA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, García-Hernández, M. [0000-0002-5987-0647], European Union (EU), and Horizon 2020

Subjects
Inks of layered materials, Growth of layered material, Materialkemi, 02 engineering and technology, Chemical vapor deposition, Q1, 01 natural sciences, materials, law.invention, Characterization of layered materials, Functionalization of layered materials, Growth of layered materials, Processing of layered materials, Synthesis of graphene and related materials, law, 540 Chemistry, functionalization of layered, Materials Chemistry, General Materials Science, Graphite, QA, QC, growth of, SYNTHESE DU GRAPHENE ET DES MATERIAUX ASSOCIES, Settore FIS/01 - Fisica Sperimentale, Processing of layered material, Química, 021001 nanoscience & nanotechnology, Condensed Matter Physics, Exfoliation joint, ddc, Characterization of layered material, layered materials, Nanoröhre, Mechanics of Materials, processing of layered materials, inks of layered materials, characterization of layered materials, functionalization of layered materials, synthesis of graphene and related materials, growth of layered materials, [PHYS.COND.CM-MS]Physics [physics]/Condensed Matter [cond-mat]/Materials Science [cond-mat.mtrl-sci], PROCÉDURE DES MATERIAUX EN COUCHE, ddc:620, 0210 nano-technology, 51 Physical Sciences, Graphene nanoribbons, Materials science, 530 Physics, Nanotechnology, 010402 general chemistry, FONCTIONNALISATION DES MATERIAUX EN COUCHES, Monolayer, Functionalization of layered material, ddc:530, Thin film, [PHYS.COND.CM-MSQHE]Physics [physics]/Condensed Matter [cond-mat]/Mesoscopic Systems and Quantum Hall Effect [cond-mat.mes-hall], Nanocomposite, Graphene, Inks of layered material, Mechanical Engineering, Física, General Chemistry, CARACTERISATION DES MATERAUX EN COUCHES, CROISSANCE DES MATERIAUX EN COUCHE, 5104 Condensed Matter Physics, 0104 chemical sciences, 7 Affordable and Clean Energy, ENCRAGE DES MATERIAUX EN COUCHE
Abstract

We present an overview of the main techniques for production and processing of graphene and related materials (GRMs), as well as the key characterization procedures. We adopt a 'hands-on' approach, providing practical details and procedures as derived from literature as well as from the authors' experience, in order to enable the reader to reproduce the results. Section I is devoted to 'bottom up' approaches, whereby individual constituents are pieced together into more complex structures. We consider graphene nanoribbons (GNRs) produced either by solution processing or by on-surface synthesis in ultra high vacuum (UHV), as well carbon nanomembranes (CNM). Production of a variety of GNRs with tailored band gaps and edge shapes is now possible. CNMs can be tuned in terms of porosity, crystallinity and electronic behaviour. Section II covers 'top down' techniques. These rely on breaking down of a layered precursor, in the graphene case usually natural crystals like graphite or artificially synthesized materials, such as highly oriented pyrolythic graphite, monolayers or few layers (FL) flakes. The main focus of this section is on various exfoliation techniques in a liquid media, either intercalation or liquid phase exfoliation (LPE). The choice of precursor, exfoliation method, medium as well as the control of parameters such as time or temperature are crucial. A definite choice of parameters and conditions yields a particular material with specific properties that makes it more suitable for a targeted application. We cover protocols for the graphitic precursors to graphene oxide (GO). This is an important material for a range of applications in biomedicine, energy storage, nanocomposites, etc. Hummers' and modified Hummers' methods are used to make GO that subsequently can be reduced to obtain reduced graphene oxide (RGO) with a variety of strategies. GO flakes are also employed to prepare three-dimensional (3d) low density structures, such as sponges, foams, hydro- or aerogels. The assembly of flakes into 3d structures can provide improved mechanical properties. Aerogels with a highly open structure, with interconnected hierarchical pores, can enhance the accessibility to the whole surface area, as relevant for a number of applications, such as energy storage. The main recipes to yield graphite intercalation compounds (GICs) are also discussed. GICs are suitable precursors for covalent functionalization of graphene, but can also be used for the synthesis of uncharged graphene in solution. Degradation of the molecules intercalated in GICs can be triggered by high temperature treatment or microwave irradiation, creating a gas pressure surge in graphite and exfoliation. Electrochemical exfoliation by applying a voltage in an electrolyte to a graphite electrode can be tuned by varying precursors, electrolytes and potential. Graphite electrodes can be either negatively or positively intercalated to obtain GICs that are subsequently exfoliated. We also discuss the materials that can be amenable to exfoliation, by employing a theoretical data-mining approach. The exfoliation of LMs usually results in a heterogeneous dispersion of flakes with different lateral size and thickness. This is a critical bottleneck for applications, and hinders the full exploitation of GRMs produced by solution processing. The establishment of procedures to control the morphological properties of exfoliated GRMs, which also need to be industrially scalable, is one of the key needs. Section III deals with the processing of flakes. (Ultra)centrifugation techniques have thus far been the most investigated to sort GRMs following ultrasonication, shear mixing, ball milling, microfluidization, and wet-jet milling. It allows sorting by size and thickness. Inks formulated from GRM dispersions can be printed using a number of processes, from inkjet to screen printing. Each technique has specific rheological requirements, as well as geometrical constraints. The solvent choice is critical, not only for the GRM stability, but also in terms of optimizing printing on different substrates, such as glass, Si, plastic, paper, etc, all with different surface energies. Chemical modifications of such substrates is also a key step. Sections IV–VII are devoted to the growth of GRMs on various substrates and their processing after growth to place them on the surface of choice for specific applications. The substrate for graphene growth is a key determinant of the nature and quality of the resultant film. The lattice mismatch between graphene and substrate influences the resulting crystallinity. Growth on insulators, such as SiO2, typically results in films with small crystallites, whereas growth on the close-packed surfaces of metals yields highly crystalline films. Section IV outlines the growth of graphene on SiC substrates. This satisfies the requirements for electronic applications, with well-defined graphene-substrate interface, low trapped impurities and no need for transfer. It also allows graphene structures and devices to be measured directly on the growth substrate. The flatness of the substrate results in graphene with minimal strain and ripples on large areas, allowing spectroscopies and surface science to be performed. We also discuss the surface engineering by intercalation of the resulting graphene, its integration with Si-wafers and the production of nanostructures with the desired shape, with no need for patterning. Section V deals with chemical vapour deposition (CVD) onto various transition metals and on insulators. Growth on Ni results in graphitized polycrystalline films. While the thickness of these films can be optimized by controlling the deposition parameters, such as the type of hydrocarbon precursor and temperature, it is difficult to attain single layer graphene (SLG) across large areas, owing to the simultaneous nucleation/growth and solution/precipitation mechanisms. The differing characteristics of polycrystalline Ni films facilitate the growth of graphitic layers at different rates, resulting in regions with differing numbers of graphitic layers. High-quality films can be grown on Cu. Cu is available in a variety of shapes and forms, such as foils, bulks, foams, thin films on other materials and powders, making it attractive for industrial production of large area graphene films. The push to use CVD graphene in applications has also triggered a research line for the direct growth on insulators. The quality of the resulting films is lower than possible to date on metals, but enough, in terms of transmittance and resistivity, for many applications as described in section V. Transfer technologies are the focus of section VI. CVD synthesis of graphene on metals and bottom up molecular approaches require SLG to be transferred to the final target substrates. To have technological impact, the advances in production of high-quality large-area CVD graphene must be commensurate with those on transfer and placement on the final substrates. This is a prerequisite for most applications, such as touch panels, anticorrosion coatings, transparent electrodes and gas sensors etc. New strategies have improved the transferred graphene quality, making CVD graphene a feasible option for CMOS foundries. Methods based on complete etching of the metal substrate in suitable etchants, typically iron chloride, ammonium persulfate, or hydrogen chloride although reliable, are time- and resource-consuming, with damage to graphene and production of metal and etchant residues. Electrochemical delamination in a low-concentration aqueous solution is an alternative. In this case metallic substrates can be reused. Dry transfer is less detrimental for the SLG quality, enabling a deterministic transfer. There is a large range of layered materials (LMs) beyond graphite. Only few of them have been already exfoliated and fully characterized. Section VII deals with the growth of some of these materials. Amongst them, h-BN, transition metal tri- and di-chalcogenides are of paramount importance. The growth of h-BN is at present considered essential for the development of graphene in (opto) electronic applications, as h-BN is ideal as capping layer or substrate. The interesting optical and electronic properties of TMDs also require the development of scalable methods for their production. Large scale growth using chemical/physical vapour deposition or thermal assisted conversion has been thus far limited to a small set, such as h-BN or some TMDs. Heterostructures could also be directly grown. Section VIII discusses advances in GRM functionalization. A broad range of organic molecules can be anchored to the sp 2 basal plane by reductive functionalization. Negatively charged graphene can be prepared in liquid phase (e.g. via intercalation chemistry or electrochemically) and can react with electrophiles. This can be achieved both in dispersion or on substrate. The functional groups of GO can be further derivatized. Graphene can also be noncovalently functionalized, in particular with polycyclic aromatic hydrocarbons that assemble on the sp 2 carbon network by π–π stacking. In the liquid phase, this can enhance the colloidal stability of SLG/FLG. Approaches to achieve noncovalent on-substrate functionalization are also discussed, which can chemically dope graphene. Research efforts to derivatize CNMs are also summarized, as well as novel routes to selectively address defect sites. In dispersion, edges are the most dominant defects and can be covalently modified. This enhances colloidal stability without modifying the graphene basal plane. Basal plane point defects can also be modified, passivated and healed in ultra-high vacuum. The decoration of graphene with metal nanoparticles (NPs) has also received considerable attention, as it allows to exploit synergistic effects between NPs and graphene. Decoration can be either achieved chemically or in the gas phase. All LMs, can be functionalized and we summarize emerging approaches to covalently and noncovalently functionalize MoS2 both in the liquid and on substrate. Section IX describes some of the most popular characterization techniques, ranging from optical detection to the measurement of the electronic structure. Microscopies play an important role, although macroscopic techniques are also used for the measurement of the properties of these materials and their devices. Raman spectroscopy is paramount for GRMs, while PL is more adequate for non-graphene LMs (see section IX.2). Liquid based methods result in flakes with different thicknesses and dimensions. The qualification of size and thickness can be achieved using imaging techniques, like scanning probe microscopy (SPM) or transmission electron microscopy (TEM) or spectroscopic techniques. Optical microscopy enables the detection of flakes on suitable surfaces as well as the measurement of optical properties. Characterization of exfoliated materials is essential to improve the GRM metrology for applications and quality control. For grown GRMs, SPM can be used to probe morphological properties, as well as to study growth mechanisms and quality of transfer. More generally, SPM combined with smart measurement protocols in various modes allows one to get obtain information on mechanical properties, surface potential, work functions, electrical properties, or effectiveness of functionalization. Some of the techniques described are suitable for 'in situ' characterization, and can be hosted within the growth chambers. If the diagnosis is made 'ex situ', consideration should be given to the preparation of the samples to avoid contamination. Occasionally cleaning methods have to be used prior to measurement., We acknowledge funding from the European Commission Graphene Flagship Core1 (grant agreement 696656) and Core2 (grant agreement 785219).

Published
2020
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30. Challenges of Inequality to Democracy

Author

Thamy Pogrebinschi, Graham Smith, Richard Bellamy, Rajeev Bhargava, Ulrike Felt, Colin Hay, Lily Lamboy, Juliana Bidadanure, Wolfgang Merkel, Mieke Verloo, Gayil Talshir, Nadia Urbinati, Thomas Christiano, Centre d'études européennes et de politique comparée (Sciences Po, CNRS) (CEE), Sciences Po (Sciences Po)-Centre National de la Recherche Scientifique (CNRS), Abteilung Quantenphysik, Universität Ulm - Ulm University [Ulm, Allemagne], Institut für Quantenphysik, Universität Ulm, Radboud university [Nijmegen], International Panel on Social Progress (IPSP), and Centre d'études européennes et de politique comparée (CEE)

Subjects
media_common.quotation_subject, 05 social sciences, 06 humanities and the arts, 16. Peace & justice, 0603 philosophy, ethics and religion, Pluralism (political philosophy), Interconnectedness, Democracy, [SHS.SCIPO]Humanities and Social Sciences/Political science, 0506 political science, Politics, Economic inequality, Sovereignty, Political science, 060302 philosophy, 050602 political science & public administration, Normative, Global citizenship, 10. No inequality, media_common, Law and economics
Abstract

Democracy, as we understand it, is a process of collective decision- making among persons, which issues in collectively binding norms for the society of those persons. It is a process of decision- making in which persons participate as equals in determining the legal and conventional norms that bind them and in which the group of persons, taken collectively, are sovereign. Democracy can be understood as a descriptive term, referring to political societies that actually exist, or as a normative ideal for the evaluation of political societies. Our focus in this chapter is primarily on the basic moral principles that can justify this egalitarian process of collective decision- making and on the challenges to understanding and realizing this ideal in the modern world. After an initial account of the basic principle and the social and institutional realization of this principle, we address the challenges to articulating and implementing this principle that arise due to the reality of economic inequality and the religious, ethnic, gender, and racial pluralism of modern societies, and to the fact that state- based democratic systems operate within a larger global society. We then discuss and evaluate the appropriateness of democratic institutions, procedures, and organizations to translate the moral principles into the structural grammar of present- day democracies and to what extent they can guarantee the fundamental principles and normative promises of democracy. As we will see, the ideas of equality and sovereignty at the base of democracy cannot be fully appreciated without a grasp of the pluralism, complexity and global interconnectedness of modern societies.

Published
2018

31. Prognosis for patients with amyotrophic lateral sclerosis : development and validation of a personalised prediction model

Author

Christopher J McDermott, Philip Van Damme, Beatrice Stubendorff, Markus Weber, Sonja Körner, Andrea Calvo, Christopher Shaw, Martin R Turner, Mark Heverin, Annelien L. Bredenoord, Orla Hardiman, Susanne Petri, Karel G.M. Moons, Bas M. Middelkoop, Philippe Couratier, Angela Rosenbohm, Mamede de Carvalho, Albert C. Ludolph, Wouter van Rheenen, Ruben P A van Eijk, Hannah Hollinger, Leonard H. van den Berg, Alexander G. Thompson, Mbombe Kazoka, Adriano Chiò, Anne E. Visser, A. Rödiger, A. Gunkel, Sarah Martin, Philippe Corcia, Joke van Vugt, Xenia Kobeleva, Thomas P. A. Debray, James Rooney, Pamela J. Shaw, Annelot M. Dekker, Ammar Al-Chalabi, Marta Gromicho, Alice Vajda, Kevin Talbot, Thomas M. Ringer, Helma Sommer, Julian Grosskreutz, Susana Pinto, Michael A van Es, Henk Jan Westeneng, Jan H. Veldink, Università degli studi di Torino ( UNITO ), Universidade de Lisboa, Faculdade de Ciências, Departamento de Geologia e Instituto Dom Luiz (IDL), Campo Grande, C6-4º, 1749-016 Lisboa (Portugal)., Universidade de Lisboa ( ULISBOA ), University Medical Center Utrecht, Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale ( NET ), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique ( GEIST ), Université de Limoges ( UNILIM ) -Université de Limoges ( UNILIM ) -CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale ( INSERM ), German Research Center for Artificial Intelligence ( DFKI ), DFKI, Service de Neurologie, Universität Ulm, Hannover Medical School [Hannover] ( MHH ), Department of Neurology, Hospital de Santa Maria, Catholic University of Leuven ( KU Leuven ), Institute of Psychiatry, Institute of psychiatry, Trinity College Dublin, Università degli studi di Torino (UNITO), Centro de Geologia [Lisboa], Universidade de Lisboa (ULISBOA), University Medical Center [Utrecht], Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Deutsches Forschungszentrum für Künstliche Intelligenz GmbH (DFKI), Universität Ulm - Ulm University [Ulm, Allemagne], Hannover Medical School [Hannover] (MHH), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), and Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI)

Subjects
Male, medicine.medical_specialty, Concordance, Models, Neurological, Population, Clinical Neurology, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Severity of illness, Humans, Medicine, 030212 general & internal medicine, Precision Medicine, Amyotrophic lateral sclerosis, 10. No inequality, education, Survival analysis, Aged, education.field_of_study, Receiver operating characteristic, business.industry, Amyotrophic Lateral Sclerosis, Hazard ratio, Reproducibility of Results, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, Middle Aged, Prognosis, medicine.disease, Survival Analysis, Europe, Cohort, Disease Progression, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

Summary\ud Background\ud Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, fatal motor neuron disease with a variable natural history. There are no accurate models that predict the disease course and outcomes, which complicates risk assessment and counselling for individual patients, stratification of patients for trials, and timing of interventions. We therefore aimed to develop and validate a model for predicting a composite survival endpoint for individual patients with ALS.\ud \ud Methods\ud We obtained data for patients from 14 specialised ALS centres (each one designated as a cohort) in Belgium, France, the Netherlands, Germany, Ireland, Italy, Portugal, Switzerland, and the UK. All patients were diagnosed in the centres after excluding other diagnoses and classified according to revised El Escorial criteria. We assessed 16 patient characteristics as potential predictors of a composite survival outcome (time between onset of symptoms and non-invasive ventilation for more than 23 h per day, tracheostomy, or death) and applied backward elimination with bootstrapping in the largest population-based dataset for predictor selection. Data were gathered on the day of diagnosis or as soon as possible thereafter. Predictors that were selected in more than 70% of the bootstrap resamples were used to develop a multivariable Royston-Parmar model for predicting the composite survival outcome in individual patients. We assessed the generalisability of the model by estimating heterogeneity of predictive accuracy across external populations (ie, populations not used to develop the model) using internal–external cross-validation, and quantified the discrimination using the concordance (c) statistic (area under the receiver operator characteristic curve) and calibration using a calibration slope.\ud \ud Findings\ud Data were collected between Jan 1, 1992, and Sept 22, 2016 (the largest data-set included data from 1936 patients). The median follow-up time was 97·5 months (IQR 52·9–168·5). Eight candidate predictors entered the prediction model: bulbar versus non-bulbar onset (univariable hazard ratio [HR] 1·71, 95% CI 1·63–1·79), age at onset (1·03, 1·03–1·03), definite versus probable or possible ALS (1·47, 1·39–1·55), diagnostic delay (0·52, 0·51–0·53), forced vital capacity (HR 0·99, 0·99–0·99), progression rate (6·33, 5·92–6·76), frontotemporal dementia (1·34, 1·20–1·50), and presence of a C9orf72 repeat expansion (1·45, 1·31–1·61), all p

Published
2018
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32. Evolutionary history of transformation from chronic lymphocytic leukemia to Richter syndrome

Author

Erin M. Parry, Ignaty Leshchiner, Romain Guièze, Connor Johnson, Eugen Tausch, Sameer A. Parikh, Camilla Lemvigh, Julien Broséus, Sébastien Hergalant, Conor Messer, Filippo Utro, Chaya Levovitz, Kahn Rhrissorrakrai, Liang Li, Daniel Rosebrock, Shanye Yin, Stephanie Deng, Kara Slowik, Raquel Jacobs, Teddy Huang, Shuqiang Li, Geoff Fell, Robert Redd, Ziao Lin, Binyamin A. Knisbacher, Dimitri Livitz, Christof Schneider, Neil Ruthen, Liudmila Elagina, Amaro Taylor-Weiner, Bria Persaud, Aina Martinez, Stacey M. Fernandes, Noelia Purroy, Annabelle J. Anandappa, Jialin Ma, Julian Hess, Laura Z. Rassenti, Thomas J. Kipps, Nitin Jain, William Wierda, Florence Cymbalista, Pierre Feugier, Neil E. Kay, Kenneth J. Livak, Brian P. Danysh, Chip Stewart, Donna Neuberg, Matthew S. Davids, Jennifer R. Brown, Laxmi Parida, Stephan Stilgenbauer, Gad Getz, Catherine J. Wu, Dana-Farber Cancer Institute [Boston], Broad Institute [Cambridge], Harvard University-Massachusetts Institute of Technology (MIT), Harvard Medical School [Boston] (HMS), Boston University School of Medicine (BUSM), Boston University [Boston] (BU), CHU Clermont-Ferrand, Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias (CHELTER), Université Clermont Auvergne (UCA), Universität Ulm - Ulm University [Ulm, Allemagne], Mayo Clinic [Rochester], Danmarks Tekniske Universitet = Technical University of Denmark (DTU), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), IBM Thomas J. Watson Research Center, IBM, Moores Cancer Center [La Jolla], School of Medicine [Univ California San Diego] (UC San Diego), University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC)-University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC), MD Anderson Cancer Center [Houston], The University of Texas Health Science Center at Houston (UTHealth), Adaptateurs de signalisation en hématologie (ASIH), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Nord, Service d'Hématologie [CHRU Nancy], Massachusetts General Hospital [Boston], and Brigham and Women's Hospital [Boston]

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], General Biochemistry, Genetics and Molecular Biology
Abstract

International audience

Published
2023
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33. Uniquely Restricted Matchings and Edge Colorings

Author

Ignasi Sau, Julien Baste, Dieter Rautenbach, Algorithmes, Graphes et Combinatoire ( ALGCO ), Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier ( LIRMM ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut für Optimierung und Operations Research, Universität Ulm, Algorithmes, Graphes et Combinatoire (ALGCO), Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier (LIRMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), and Universität Ulm - Ulm University [Ulm, Allemagne]

Subjects
FOS: Computer and information sciences, [ MATH ] Mathematics [math], [ INFO ] Computer Science [cs], Discrete Mathematics (cs.DM), G.2.2, 0102 computer and information sciences, Mathematical proof, 01 natural sciences, Constructive, Combinatorics, Computer Science - Data Structures and Algorithms, FOS: Mathematics, Mathematics - Combinatorics, Data Structures and Algorithms (cs.DS), [INFO]Computer Science [cs], Maximum size, [MATH]Mathematics [math], 0101 mathematics, Blossom algorithm, ComputingMilieux_MISCELLANEOUS, Mathematics, Discrete mathematics, Efficient algorithm, 05C70, 010102 general mathematics, Approximation algorithm, Edge coloring, 010201 computation theory & mathematics, Bipartite graph, Combinatorics (math.CO), Computer Science - Discrete Mathematics, MathematicsofComputing_DISCRETEMATHEMATICS
Abstract

A matching in a graph is uniquely restricted if no other matching covers exactly the same set of vertices. This notion was defined by Golumbic, Hirst, and Lewenstein and studied in a number of articles. Our contribution is twofold. We provide approximation algorithms for computing a uniquely restricted matching of maximum size in some bipartite graphs. In particular, we achieve a ratio of $9/5$ for subcubic bipartite graphs, improving over a $2$-approximation algorithm proposed by Mishra. Furthermore, we study the uniquely restricted chromatic index of a graph, defined as the minimum number of uniquely restricted matchings into which its edge set can be partitioned. We provide tight upper bounds in terms of the maximum degree and characterize all extremal graphs. Our constructive proofs yield efficient algorithms to determine the corresponding edge colorings., 23 pages, 11 figures

Published
2017
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34. Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors

Author

Jeanette E. Eckel-Passow, Mark Lathrop, Stefan Schreiber, Ulrika Andersson, Jonine L. Bernstein, John K. Wiencke, Matthias Simon, Matthew L. Kosel, Marianne Labussière, Elizabeth B. Claus, Faith G. Davis, Francis Ali-Osman, Hugues Sicotte, Rose Lai, Lucie McCoy, Melissa L. Bondy, Preetha Rajaraman, Heinz-Erich Wichmann, Markus M. Nöthen, Margaret Wrensch, Richard S. Houlston, Meredith Yeager, Sarah Fleming, Ben Kinnersley, Georgina Armstrong, Zhaoming Wang, Siegal Sadetzki, Khê Hoang-Xuan, Jean-Yves Delattre, Karim Labreche, Paul A. Decker, Stefanie Heilmann, Karima Mokhtari, Anthony J. Swerdlow, Yanhong Liu, Beatrice Melin, Ahmed Idbaih, Jill S. Barnholtz-Sloan, Christoffer Johansen, Marc Sanson, Terri Rice, Ryan Merrell, Peter Broderick, Joellen Shildkraut, Pilar Galan, Stephen J. Chanock, Christopher I. Amos, Robert B. Jenkins, Ching C. Lau, Sanjay Shete, Yanwen Chen, Sara H. Olson, Dora Il'yasova, Anna Luisa Di Stefano, Martha S. Linet, Quinn T. Ostrom, Minouk J. Schoemaker, Helen M. Hansen, Stefan Herms, Johannes Schramm, Konstantinos Gousias, Dan Lachance, Michael E. Scheurer, Department of Radiation Sciences [Umeå], Umeå University, Case Comprehensive Cancer Center, School of Medicine, Case Western Reserve University [Cleveland], Department of Neurological Surgery, School of Medicine, University of California, Institute of Human Genetics, Universität Ulm - Ulm University [Ulm, Allemagne], Institute of Cancer Epidemiology, The Danish Cancer Society, Rigshospitalet [Copenhagen], Copenhagen University Hospital, Duke Cancer Institute Durham, North Carolina, USA., Duke University Medical Center, School of Public Health [Teheran], University of Tehran, Division of Genetics and Epidemiology, Institute of Cancer Research (ICR), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Department of Medicine, Dan L. Duncan Comprehensive Cancer Center, Baylor College of Medecine, Division of Biomedical Statistics anInformatics, Mayo Clinic School Medicine, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA), Department of Neurosurger, Rheinische Friedrich-Wilhelms-Universität Bonn, Centre for Epidemiology and Biostatistics, Faculty of Medicine and Health Leeds, University of Leeds, Institute of Epidemiology, Helmholtz Centre Munich, Institute of Medical Statistics and Epidemiology Munich, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), 1st Medical Department, University Clinic Schleswig–Holstein, Division of Breast Cancer Research London, Department of Human Genetics Montreal, McGill University Health Center [Montreal] (MUHC), Genome Québec, Department of Neurosurgery, Institut of Clinical Medicine, Division of Cancer Epidemiology and Genetics, National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH)-National Institutes of Health [Bethesda] (NIH), University of California [San Francisco] (UCSF), University of California-University of California, Department of Biomedical Data Science, Geisel School of Medicine at Dartmouth, Geisel School of Medicine at Dartmouth, Department of Epidemiology and Biostatistics, School of Health, Shahrekord University of Medical Sciences, School of Public Health, Imperial College London, Department of Neurology, Mayo Clinic Comprehensive Cancer Center, Mayo Clinic, Department of Pediatrics, Dan L. Duncan Comprehensive Cancer Center, Department of Neurology Evanston, Illinois, USA., NorthShore University HealthSystem, Duke Cancer Institute Durham, Cancer Control and Prevention Program, Department of Community and Family Medicine Durham, Department of Surgery Durham, North, Cancer and Radiation Epidemiology Unit, Gertner Institute, Chaim Sheba Medical Center, Department of Epidemiology and Preventive Medicine, School of Public Health, Sackler Faculty of Medicine, Tel Aviv University [Tel Aviv], Department of Biostatistics [Oslo], Institute of Basic Medical Sciences [Oslo], Faculty of Medicine [Oslo], University of Oslo (UiO)-University of Oslo (UiO)-Faculty of Medicine [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Departments of Neurology and Preventive Medicine Keck School of Medicine, University of Southern California (USC), School of Public Health New Haven, Yale University [New Haven], Department of Neurosurgery Boston, Brigham and Women's Hospital [Boston], Department of Laboratory Medicine and Pathology, University of Alberta, Division of Molecular Pathology, Tottori University, Department of Medicine, Dan L. Duncan Comprehensive Cancer Center Baylor Houston, US National Institutes of Health (NIH) [R01CA139020, R01CA52689, P30CA125123], McNair Medical Institute, Population Sciences Biorepository at Baylor College of Medicine, Acta Oncologica through the Royal Swedish Academy of Science, Swedish Research Council, Swedish Cancer Foundation, Cancer Research UK - Bobby Moore Fund [C1298/A8362], Wellcome Trust, DJ Fielding Medical Research Trust, National Cancer Research Network, European Union [QLK4-CT-1999-01563], International Union against Cancer (UICC), Mobile Manufacturers' Forum, GSM Association, UICC, Mobile Telecommunications and Health Research (MTHR) Programme, Health and Safety Executive, Department of Health and Safety Executive, UK Network Operators, Ligue Nationale Contre le Cancer, Fondation ARC, Institut National du Cancer (INCa) [PL046], French Ministry of Higher Education and Research, program 'Investissements d'avenir' [ANR-10-IAIHU-06], Genome Quebec, le Ministere de l'Enseignement superieur, de la Recherche, de la Science et de la Technologie (MESRST) Quebec, McGill University, Deutsche Forschungsgemeinschaft [Si552, Schr285], Deutsche Krebshilfe [70-2385-Wi2, 70-3163-Wi3, 10-6262], BONFOR, Wellcome Trust [076113, 085475], German Federal Ministry of Education and Research (BMBF), Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, German National Genome Research Network (NGFN), Munich Center of Health Sciences (MC Health) as part of LMUinnovativ, German Federal Ministry of Education and Research (BMBF) through the Integrated Network IntegraMent (Integrated Understanding of Causes and Mechanisms in Mental Disorders) - e:Med research and funding concept [01ZX1314A], DFG, Alfried Krupp von Bohlen und Halbach-Stiftung, BONFOR Programme of the University of Bonn, Germany, NIH [R01CA139020, R01CA52689, P50CA097257, R01CA126831, P50CA108961, P30CA15083], Loglio Collective, National Brain Tumor Foundation, Stanley D. Lewis and Virginia S. Lewis Endowed Chair in Brain Tumor Research, Robert Magnin Newman Endowed Chair in Neuro-oncology, National Center for Research Resources, National Center for Advancing Translational Sciences, NIH, through UCSF-CTSI [UL1 RR024131], National Cancer Institute's Surveillance, Epidemiology and End Results Program [HHSN261201000140C, HHSN261201000035C, HHSN261201000034C], Centers for Disease Control and Prevention's National Program of Cancer Registries [U58DP003862-01], National Institute of Neurological Disorders and Stroke [RC1NS068222Z], Bernie and Edith Waterman Foundation, Ting Tsung and Wei Fong Chao Family Foundation, Department of Radiation Sciences, University of Umeå, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Sorbonne Universités, Université Pierre et Marie Curie (Paris 6), Groupe Hospitalier Pitié-Salpêtrière, Service de neurologie 2-Mazarin, Assistance Publique - Hôpitaux de Paris, Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technical University of Munich (TUM), Case Western Reserve University, Universität Ulm, Denmark and Rigshospitalet, University of Copenhagen, Department of Epidemiology and Biostatistics, School of Public Health, University of Medical Sciences, Tehran, Université Pierre et Marie Curie - Paris 6 (UPMC) - Institut National de la Santé et de la Recherche Médicale (INSERM) - CHU Pitié-Salpêtrière [APHP] - Centre National de la Recherche Scientifique (CNRS), Baylor College of Medicine, Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS), Institut National de la Recherche Agronomique (INRA) - Université Paris Diderot - Paris 7 (UPD7) - Université Paris Descartes - Paris 5 (UPD5) - Université Paris 13 - Institut National de la Santé et de la Recherche Médicale (INSERM), University of Bonn (Rheinische Friedrich-Wilhelms), Technical University of Munich, Research Institute of the McGill University Health Center, National Cancer Institute (NIH), University of California San Francisco (UCSF), Tel-Aviv University, Department of Biostatistics, University of Oslo (UiO), University of Southern California, Yale University, Brigham and Women's Hospital, University of Alberta [Edmonton], University of California (UC), University of California [San Francisco] (UC San Francisco), University of California (UC)-University of California (UC), Tel Aviv University (TAU), and Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP]

Subjects
0301 basic medicine, Genotype, [SDV]Life Sciences [q-bio], Quantitative Trait Loci, Genome-wide association study, Quantitative trait locus, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Meta-Analysis as Topic, Polymorphism (computer science), Glioma, Genetics, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic association, Brain Neoplasms, medicine.disease, Molecular biology, 3. Good health, Gene Expression Regulation, Neoplastic, [SDV] Life Sciences [q-bio], 030104 developmental biology, 030220 oncology & carcinogenesis, Glioblastoma, Genome-Wide Association Study
Abstract

Genome-wide association studies (GWAS) have transformed our understanding of glioma susceptibility, but individual studies have had limited power to identify risk loci. We performed a meta-analysis of existing GWAS and two new GWAS, which totaled 12,496 cases and 18,190 controls. We identified five new loci for glioblastoma (GBM) at 1p31.3 (rs12752552; P = 2.04 x 10(-9), odds ratio (OR) = 1.22), 11q14.1 (rs11233250; P = 9.95 x 10(-10), OR = 1.24), 16p13.3 (rs2562152; P = 1.93 x 10-8, OR = 1.21), 16q12.1 (rs10852606; P = 1.29 x 10(-11), OR = 1.18) and 22q13.1 (rs2235573; P = 1.76 x 10(-10), OR = 1.15), as well as eight loci for non-GBM tumors at 1q32.1 (rs4252707; P = 3.34 x 10(-9), OR = 1.19), 1q44 (rs12076373; P = 2.63 x 10(-10), OR = 1.23), 2q33.3 (rs7572263; P = 2.18 x 10(-10), OR = 1.20), 3p14.1 (rs11706832; P = 7.66 x 10(-9), OR = 1.15), 10q24.33 (rs11598018; P = 3.39 x 10-8, OR = 1.14), 11q21 (rs7107785; P = 3.87 x 10(-10), OR = 1.16), 14q12 (rs10131032; P = 5.07 x 10(-11), OR = 1.33) and 16p13.3 (rs3751667; P = 2.61 x 10(-9), OR = 1.18). These data substantiate that genetic susceptibility to GBM and non-GBM tumors are highly distinct, which likely reflects different etiology.

Published
2017
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35. Report on INEX 2013

Author

Xavier Tannier, Josiane Mothe, E. SanJuan, Patrice Bellot, Arunav Mishra, Ralf Schenkel, Matthew Trappett, Marijn Koolen, Michael Preminger, Véronique Moriceau, Martin Theobald, Qiuyue Wang, Falk Scholer, Shlomo Geva, Jaap Kamps, Gabriella Kazai, Mark Sanderson, Antoine Doucet, Sairam Gurajada, Andrew Trotman, Aix-Marseille Université - AMU (FRANCE), Centre National de la Recherche Scientifique - CNRS (FRANCE), Institut National Polytechnique de Toulouse - INPT (FRANCE), Université Toulouse III - Paul Sabatier - UT3 (FRANCE), Université Toulouse - Jean Jaurès - UT2J (FRANCE), Université Toulouse 1 Capitole - UT1 (FRANCE), Universität Ulm (GERMANY), Max-Planck-Institut für Informatik - MPII (GERMANY), Oslo and Akershus University College of Applied Sciences - HiOA (NORWAY), Queensland University of Technology - QUT (AUSTRALIA), Renmin University of China - RUC (CHINA), Royal Melbourne Institute of Technology - RMIT (AUSTRALIA), University of Amsterdam - UvA (NETHERLANDS), Université d'Avignon et des Pays de Vaucluse (FRANCE), University of Otago (NEW ZEALAND), Université de La Rochelle (FRANCE), Universität Trier (GERMANY), Université Paris-Sud 11 (FRANCE), Institut de Recherche en Informatique de Toulouse - IRIT (Toulouse, France), Institute of Databases and Information Systems - DBIS (Ulm, Allemagne), Language and Computation (ILLC, FNWI/FGw), ILLC (FGw), Cultural Heritage and Identity, Faculteit der Geesteswetenschappen, Laboratoire des Sciences de l'Information et des Systèmes (LSIS), Aix Marseille Université (AMU)-Université de Toulon (UTLN)-Arts et Métiers Paristech ENSAM Aix-en-Provence-Centre National de la Recherche Scientifique (CNRS), Equipe Hultech - Laboratoire GREYC - UMR6072, Groupe de Recherche en Informatique, Image, Automatique et Instrumentation de Caen (GREYC), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École Nationale Supérieure d'Ingénieurs de Caen (ENSICAEN), Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS), Queensland University of Technology [Brisbane] (QUT), University of Amsterdam [Amsterdam] (UvA), Microsoft Research [Cambridge] (Microsoft), Microsoft Research, Center for Visual Information Technology [Hyderabad] (CVIT), International Institute of Information Technology, Hyderabad [Hyderabad] (IIIT-H), Laboratoire d'Informatique pour la Mécanique et les Sciences de l'Ingénieur (LIMSI), Université Paris Saclay (COmUE)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université - UFR d'Ingénierie (UFR 919), Sorbonne Université (SU)-Sorbonne Université (SU)-Université Paris-Saclay-Université Paris-Sud - Paris 11 (UP11), Systèmes d’Informations Généralisées (IRIT-SIG), Institut de recherche en informatique de Toulouse (IRIT), Université Toulouse 1 Capitole (UT1)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse 1 Capitole (UT1)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Oslo and Akershus University College of Applied Sciences [Oslo] (HiOA), Laboratoire Informatique d'Avignon (LIA), Avignon Université (AU)-Centre d'Enseignement et de Recherche en Informatique - CERI, Saarland University [Saarbrücken], Max-Planck-Institut für Informatik (MPII), Max-Planck-Gesellschaft, The Wellcome Trust Sanger Institute [Cambridge], Centre National de la Recherche Scientifique (CNRS)-Arts et Métiers Paristech ENSAM Aix-en-Provence-Université de Toulon (UTLN)-Aix Marseille Université (AMU), Université de La Rochelle (ULR), Semion Ltd (London, UK), MEthodes et ingénierie des Langues, des Ontologies et du DIscours (IRIT-MELODI), Université Toulouse 1 Capitole (UT1), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse 1 Capitole (UT1), Université Toulouse - Jean Jaurès (UT2J), Avignon Université (AU), Universität Trier, Université Paris-Sud - Paris 11 (UP11), Universität Ulm - Ulm University [Ulm, Allemagne], University of Otago [Dunedin, Nouvelle-Zélande], Royal Melbourne Institute of Technology University (RMIT University), Renmin University of China, Beijing, Institut National Polytechnique de Toulouse - Toulouse INP (FRANCE), Université Paris-Sud - Paris 11 (UP11)-Sorbonne Université - UFR d'Ingénierie (UFR 919), Sorbonne Université (SU)-Sorbonne Université (SU)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Université Paris Saclay (COmUE), La Rochelle Université (ULR), Université Toulouse Capitole (UT Capitole), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Toulouse Mind & Brain Institut (TMBI), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université Toulouse Capitole (UT Capitole), Université de Toulouse (UT), and Trier University

Subjects
Théorie de l'information, Contextualization, Information retrieval, Computer science, InformationSystems_INFORMATIONSTORAGEANDRETRIEVAL, Recherche d'information, 02 engineering and technology, Linked data, Snippet, Semantic data model, SIGEVI, Management Information Systems, Task (project management), [INFO.INFO-TT]Computer Science [cs]/Document and Text Processing, [INFO.INFO-IT]Computer Science [cs]/Information Theory [cs.IT], Hardware and Architecture, [INFO.INFO-IR]Computer Science [cs]/Information Retrieval [cs.IR], 020204 information systems, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, 0202 electrical engineering, electronic engineering, information engineering, 020201 artificial intelligence & image processing, Knowledge transfer
Abstract

INEX investigates focused retrieval from structured documents by providing large test collections of structured documents, uniform evaluation measures, and a forum for organizations to compare their results. This paper reports on the INEX 2013 evaluation campaign, which consisted of four activities addressing three themes: searching professional and user generated data (Social Book Search track); searching structured or semantic data (Linked Data track); and focused retrieval (Snippet Retrieval and Tweet Contextualization tracks). INEX 2013 was an exciting year for INEX in which we consolidated the collaboration with (other activities in) CLEF and for the second time ran our workshop as part of the CLEF labs in order to facilitate knowledge transfer between the evaluation forums. This paper gives an overview of all the INEX 2013 tracks, their aims and task, the built test-collections, and gives an initial analysis of the results.

Published
2013
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36. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

Author

Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij-Arts, Raoul C. Hennekam, General Paediatrics, APH - Quality of Care, Universität Ulm - Ulm University [Ulm, Allemagne], Hospital Universitario La Paz, CIBER de Enfermedades Raras (CIBERER), University of Catania [Italy], Linköping University (LIU), University of Pecs, Istituto di Neuroscienze - Institute of Neuroscience [Milan, Italy] (CNR), Università degli Studi di Milano = University of Milan (UNIMI)-Consiglio Nazionale delle Ricerche [Milano] (CNR), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Deutsches Zentrum für Neurodegenerative Erkrankungen [Ulm] (DZNE), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), University of Groningen [Groningen], VU University Medical Center [Amsterdam], This study has been supported by the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) represented by Klea Vyshka. Funding was also obtained from the European Union’s Horizon 2020 research and innovation program under the EJP RD COFUND-EJP N° 825575., and This publication has been supported by the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA). ERN-ITHACA is partly co-funded by the Health Program of the European Union. We thank for the comprehensive help of Klea Vyshka from ERN-ITHACA. We thank the American guideline consortium for discussions and support.

Subjects
Genotype-phenotype correlation, 22q13 deletion syndrome, Clinical trials, SHANK3, Genetics, Natural history, Phelan-McDermid syndrome, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], PMS, General Medicine, Genetics (clinical)
Abstract

International audience; Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of European medical guidelines we studied the definition, phenotype, genotype-phenotype characteristics, and natural history of the syndrome. The number of confirmed diagnoses of PMS in different European countries was also assessed and it could be concluded that PMS is underdiagnosed. The incidence of PMS in European countries is estimated to be at least 1 in 30,000. Next generation sequencing, including analysis of copy number variations, as first tier in diagnostics of individuals with intellectual disability will likely yield a larger number of individuals with PMS than presently known. A definition of PMS by its phenotype is at the present not possible, and therefore PMS-SHANK3 related is defined by the presence of SHANK3 haploinsufficiency, either by a deletion involving region 22q13.2–33 or a pathogenic/likely pathogenic variant in SHANK3. In summarizing the phenotype, we subdivided it into that of individuals with a 22q13 deletion and that of those with a pathogenic/likely pathogenic SHANK3 variant. The phenotype of individuals with PMS is variable, depending in part on the deletion size or whether only a variant of SHANK3 is present. The core phenotype in the domains development, neurology, and senses are similar in those with deletions and SHANK3 variants, but individuals with a SHANK3 variant more often are reported to have behavioural disorders and less often urogenital malformations and lymphedema. The behavioural disorders may, however, be a less outstanding feature in individuals with deletions accompanied by more severe intellectual disability. Data available on the natural history are limited. Results of clinical trials using IGF-1, intranasal insulin, and oxytocin are available, other trials are in progress. The present guidelines for PMS aim at offering tools to caregivers and families to provide optimal care to individuals with PMS.

Published
2023
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37. Reconstructing plane quartics from their invariants

Author

Christophe Ritzenthaler, Jeroen Sijsling, Reynald Lercier, Institut de Recherche Mathématique de Rennes ( IRMAR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -AGROCAMPUS OUEST-École normale supérieure - Rennes ( ENS Rennes ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National des Sciences Appliquées ( INSA ) -Université de Rennes 2 ( UR2 ), Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ), Universität Ulm, Institut de Recherche Mathématique de Rennes (IRMAR), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-École normale supérieure - Rennes (ENS Rennes)-Université de Rennes 2 (UR2)-Centre National de la Recherche Scientifique (CNRS)-INSTITUT AGRO Agrocampus Ouest, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Universität Ulm - Ulm University [Ulm, Allemagne], CysMoLog 'défi scientifique émergent', Université de Rennes 1, AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), and Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)

Subjects
050101 languages & linguistics, reconstruction, Mathematics::Number Theory, Dixmier–Ohno invariants, 02 engineering and technology, Theoretical Computer Science, Moduli, Combinatorics, Mathematics - Algebraic Geometry, Quartic function, 13A50, 14L24, 14H10, 14H25, 0202 electrical engineering, electronic engineering, information engineering, FOS: Mathematics, Discrete Mathematics and Combinatorics, 0501 psychology and cognitive sciences, Number Theory (math.NT), plane quartic curves, Algebraic Geometry (math.AG), Mathematics, Ring (mathematics), Mathematics - Number Theory, Plane (geometry), Mathematics::Operator Algebras, 05 social sciences, Explicit method, 16. Peace & justice, Invariant theory, Moduli space, invariant theory, [ MATH.MATH-AG ] Mathematics [math]/Algebraic Geometry [math.AG], Computational Theory and Mathematics, moduli spaces, 020201 artificial intelligence & image processing, Geometry and Topology, [MATH.MATH-AG]Mathematics [math]/Algebraic Geometry [math.AG], Tuple
Abstract

We present an explicit method that, given a generic tuple of Dixmier-Ohno invariants, reconstructs a corresponding plane quartic curve., Comment: 36 pages

Published
2016
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38. A systematic review of determinants of sedentary behaviour in youth: a DEDIPAC-study

Author

Stierlin, Annabel, de Lepeleere, Sara, Cardon, Greet, Dargent-Molina, Patricia, Hoffmann, Belinda, Murphy, Marie, Kennedy, Aileen, O’donoghue, Grainne, Chastin, Sebastien, de Craemer, Marieke, Institute of Epidemiology and Medical Biometry, Universität Ulm - Ulm University [Ulm, Allemagne], Section Health Economics and Health Services Research, Department of Psychiatry II, Bezirkskrankenhaus Günzburg Neurochirurgische Klinik-Bezirkskrankenhaus Günzburg Neurochirurgische Klinik, Department of Movement and Sports Sciences, Ghent University [Belgium] (UGENT), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Division of Sports and Rehabilitation Medicine, Sport and Exercise Sciences Research Institute, University of Ulster, Centre for Preventive Medicine, School of Health and Human Performance, Dublin City University [Dublin] (DCU), Institute of Applied Health Research, School of Health and Life Science, Glasgow Caledonian University-Glasgow Caledonian University, The preparation of this paper was supported by the DEterminants of DIetand Physical ACtivity (DEDIPAC) knowledge hub. This work is supported bythe Joint Programming Initiative‘Healthy Diet for a Healthy Life’. The funding agencies supporting this work are (on alphabetical order of participating Member State): Belgium: Research Foundation–Flanders, France: InstitutNational de la Recherche Agronomique (INRA), Germany: Federal Ministry of Education and Research (BMBF), Ireland: The Health Research Board (HRB), The United Kingdom: The Medical Research Council (MRC).Sara De Lepeleere is a recipient of a PhD-scholarship from the Flemish Agency for Care and Health (B/12732/01) and is supported by the Research Foundation Flanders (FWO) (FWO14/ASP/066). Marieke De Craemer is supported by the Research Foundation Flanders (FWO) (FWO.OPR.2013.0366.01), Ulm University, Bezirkskrankenhaus Günzburg Neurochirurgische Klinik - Bezirkskrankenhaus Günzburg Neurochirurgische Klinik, Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS), Institut National de la Recherche Agronomique (INRA) - Université Paris Diderot - Paris 7 (UPD7) - Université Paris Descartes - Paris 5 (UPD5) - Université Paris 13 - Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Ulm, Glasgow Caledonian University - Glasgow Caledonian University, Universiteit Gent = Ghent University [Belgium] (UGENT), Universiteit Gent = Ghent University (UGENT), and BMC, BMC

Subjects
TELEVISION, Nutrition and Dietetics, Youth, [SDV]Life Sciences [q-bio], Determinant, IOWA BONE-DEVELOPMENT, YOUNG-PEOPLE, ADOLESCENT GIRLS, Medicine (miscellaneous), PHYSICAL-ACTIVITY LEVELS, CHILDREN, Sedentary behaviour, Adolescents, HEALTH INDICATORS, Screen time, [SDV] Life Sciences [q-bio], OBESITY, Medicine and Health Sciences, PRIMARY-SCHOOL, Children, Sitting, SCREEN-TIME
Abstract

International audience; AbstractSedentary behaviour (SB) has emerged as a potential risk factor for metabolic health in youth. Knowledge on the determinants of SB in youth is necessary to inform future intervention development to reduce SB. A systematic review was conducted to identify predictors and determinants of SB in youth. Pubmed, Embase, CINAHL, PsycINFO and Web of Science were searched, limiting to articles in English, published between January 2000 and May 2014. The search strategy was based on four key elements and their synonyms: (a) sedentary behaviour, (b) determinants, (c) types of sedentary behaviours, (d) types of determinants. The full protocol is available from PROSPERO (PROSPERO 2014:CRD42014009823). Cross-sectional studies were excluded. The analysis was guided by the socio-ecological model. 37 studies were selected out of 2654 identified papers from the systematic literature search. Most studies were conducted in Europe (n = 13), USA (n = 11), and Australia (n = 10). The study quality, using the Qualsyst tool, was high with a median of 82 % (IQR: 74–91 %). Multiple potential determinants were studied in only one or two studies. Determinants were found at the individual, interpersonal, environmental and policy level but few studies examined a comprehensive set of factors at different levels of influences. Evidence was found for age being positively associated with total SB, and weight status and baseline assessment of screen time being positively associated with screen time (at follow-up). A higher playground density and a higher availability of play and sports equipment at school were consistently related to an increased total SB, although these consistent findings come from single studies. Evidence was also reported for the presence of safe places to cross roads and lengthening morning and lunch breaks being associated with less total SB. Future interventions to decrease SB levels should especially target children with overweight or obesity and should start at a young age. However, since the relationship of many determinants with SB remains inconsistent, there is still a need for more longitudinal research on determinants of SB in youth.

Published
2015
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39. Macroscopic quantum resonators (MAQRO): 2015 Update

Author

Keith Schwab, Sougato Bose, Peter Barker, Ulrich Johann, Norman Gürlebeck, Claus Braxmaier, Časlav Brukner, Sabine Hossenfelder, Antoine Heidmann, Astrid Lambrecht, Gerald Hechenblaikner, Catalina Curceanu, Rupert Ursin, Gerard J. Milburn, Guglielmo M. Tino, Holger Müller, Myungshik Kim, Nikolai Kiesel, Klaus Döringshoff, Claus Lämmerzahl, Kai Bongs, Albert Roura, Markus Aspelmeyer, Jan Gieseler, Martin Tajmar, Markus Arndt, Wolfgang P. Schleich, Sven Herrmann, Serge Reynaud, Bruno Christophe, Jörg Schmiedmayer, Wolfgang Ertmer, Manuel Rodrigues, Rainer Kaltenbaek, André Pilan-Zanoni, M. Chwalla, Hendrik Ulbricht, Michael Mazilu, C. Jess Riedel, Kishan Dholakia, James Bateman, Pierre-François Cohadon, Igor Pikovski, Ernst M. Rasel, Thilo Schuldt, A. M. Cruise, Lukas Novotny, Achim Peters, Angelo Bassi, Loïc Rondin, Vlatko Vedral, Mauro Paternostro, Vienna Center for Quantum Science and Technology, TU Vienna, Department of Physics and Astronomy [UCL London], University College of London [London] ( UCL ), Istituto Nazionale di Fisica Nucleare, Sezione di Trieste ( INFN, Sezione di Trieste ), National Institute for Nuclear Physics ( INFN ), Department of Physics, University of Trieste, Trieste, Department of Physics, College of Science, Swansea University, School of Physics and Astronomy [Birmingham], University of Birmingham [Birmingham], German Aerospace Center ( DLR ), ZARM, University of Bremen, Institute of Quantum Optics and Quantum Information ( IQOQI ), Austrian Academy of Sciences ( OeAW ), ONERA - The French Aerospace Lab ( Chatillon ), ONERA, Airbus Defence and Space Germany, Laboratoire Kastler Brossel ( LKB (Jussieu) ), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris ( FRDPENS ), Centre National de la Recherche Scientifique ( CNRS ) -École normale supérieure - Paris ( ENS Paris ) -Centre National de la Recherche Scientifique ( CNRS ) -École normale supérieure - Paris ( ENS Paris ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratori Nazionali di Frascati dell’INFN, School of Physics and Astronomy, University of St Andrews, Wigner Research Center for Physics [Budapest], Hungarian Academy of Sciences [Budapest], Institut fur Physik, Humboldt Universitat zu Berlin, Humboldt Universität zu Berlin, Institut für Quantenoptik, Leibniz Universität Hannover [Hannover] ( LUH ), Photonics Laboratory, Eidgenössische Technische Hochschule [Zürich] ( ETH Zürich ), European Southern Observatory ( ESO ), Nordita, Royal Institute of Technology [Stockholm] ( KTH ), Quantum Optics and Laser Science, Blackett Laboratory, Blackett Laboratory, Imperial College London-Imperial College London, ARC Centre for Engineered Quantum Systems, University of Queensland [Brisbane], Department of Physics [Berkeley], University of California [Berkeley], Centre for Theoretical Atomic, Molecular and Optical Physics, Queen's University [Belfast] ( QUB ), Harvard-Smithsonian Center for Astrophysics ( CfA ), Harvard University [Cambridge]-Smithsonian Institution, EN-STI-TCD, CERN [Genève], Perimeter Institute for Theoretical Physics [Waterloo], Institut für Quantenphysik, Universität Ulm, Texas A & M University Institute for Advanced Study, Institute for Quantum Science and Engineering, Applied Physics, California Institute of Technology ( CALTECH ), Institut für Luft -und Raumfahrttechnik, Technische Universität Dresden ( TUD ), Dipartimento di Fisica e Astronomia and LENS, Università degli Studi di Firenze [Firenze], School of Physics and Astronomy [Southampton], University of Southampton [Southampton], Clarendon Laboratory, University of Oxford [Oxford], Center for Quantum Technologies, National University of Singapore ( NUS ), University College of London [London] (UCL), Istituto Nazionale di Fisica Nucleare, Sezione di Trieste (INFN, Sezione di Trieste), Istituto Nazionale di Fisica Nucleare (INFN), Department of Physics [Swansea], College of Science [Swansea], Swansea University-Swansea University, German Aerospace Center (DLR), Center of Applied Space Technology and Microgravity (ZARM), Universität Bremen, Institute of Quantum Optics and Quantum Information (IQOQI), Austrian Academy of Sciences (OeAW), ONERA - The French Aerospace Lab [Châtillon], ONERA-Université Paris Saclay (COmUE), Laboratoire Kastler Brossel (LKB (Jussieu)), Université Pierre et Marie Curie - Paris 6 (UPMC)-Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), SUPA School of Physics and Astronomy [University of St Andrews], University of St Andrews [Scotland]-Scottish Universities Physics Alliance (SUPA), Wigner Research Centre for Physics [Budapest], Hungarian Academy of Sciences (MTA), Humboldt-Universität zu Berlin, Leibniz Universität Hannover [Hannover] (LUH), Photonics Laboratory [ETH Zürich], Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), European Southern Observatory (ESO), Nordic Institute for Theoretical Physics (NORDITA), University of California-University of California, Queen's University [Belfast] (QUB), Harvard-Smithsonian Center for Astrophysics (CfA), Smithsonian Institution-Harvard University [Cambridge], Universität Ulm - Ulm University [Ulm, Allemagne], California Institute of Technology (CALTECH), Technische Universität Dresden = Dresden University of Technology (TU Dresden), Dipartimento di Fisica e Astronomia [Firenze], Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), University of Southampton, Clarendon Laboratory [Oxford], Centre for Quantum Technologies [Singapore] (CQT), National University of Singapore (NUS), Kaltenbaek, Rainer, Aspelmeyer, Marku, Barker, Peter F, Bassi, Angelo, Bateman, Jame, Bongs, Kai, Bose, Sougato, Braxmaier, Clau, Brukner, Časlav, Christophe, Bruno, Chwalla, Michael, Cohadon, Pierre-Françoi, Cruise, Adrian Michael, Curceanu, Catalina, Dholakia, Kishan, Diósi, Lajo, Döringshoff, Klau, Ertmer, Wolfgang, Gieseler, Jan, Gürlebeck, Norman, Hechenblaikner, Gerald, Heidmann, Antoine, Herrmann, Sven, Hossenfelder, Sabine, Johann, Ulrich, Kiesel, Nikolai, Kim, Myungshik, Lämmerzahl, Clau, Lambrecht, Astrid, Mazilu, Michael, Milburn, Gerard J, Müller, Holger, Novotny, Luka, Paternostro, Mauro, Peters, Achim, Pikovski, Igor, Zanoni, André Pilan, Rasel, Ernst M, Reynaud, Serge, Riedel, Charles Je, Rodrigues, Manuel, Rondin, Loïc, Roura, Albert, Schleich, Wolfgang P, Schmiedmayer, Jörg, Schuldt, Thilo, Schwab, Keith C, Tajmar, Martin, Tino, Guglielmo M, Ulbricht, Hendrik, Ursin, Rupert, Vedral, Vlatko, Università degli studi di Trieste = University of Trieste, Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Humboldt University Of Berlin, Leibniz Universität Hannover=Leibniz University Hannover, University of California [Berkeley] (UC Berkeley), University of California (UC)-University of California (UC), Harvard University-Smithsonian Institution, Università degli Studi di Firenze = University of Florence (UniFI), and University of Oxford

Subjects
DECOHERENCE, Matter waves, Atomic and Molecular Physics, and Optic, Computer science, Quantum physics, SPONTANEOUS LOCALIZATION, Space, Physics, Atomic, Molecular & Chemical, Space (mathematics), 7. Clean energy, 01 natural sciences, 010305 fluids & plasmas, Gravitation, quant-ph, Atomic and Molecular Physics, Quantum optomechanic, PHOTONIC CRYSTAL FIBER, Matter wave, WAVE-FUNCTION COLLAPSE, Quantum, Optical trapping, Quantum Science & Technology, Physics, Condensed Matter Physics, Atomic and Molecular Physics, and Optics, GROUND-STATE, Physical Sciences, symbols, LEVITATED NANOSPHERE, Quantum physic, [ PHYS.QPHY ] Physics [physics]/Quantum Physics [quant-ph], FOS: Physical sciences, Condensed Matter Physic, Quantum optomechanics, symbols.namesake, Theoretical physics, [PHYS.QPHY]Physics [physics]/Quantum Physics [quant-ph], 0103 physical sciences, Quality (philosophy), MAQRO, Electrical and Electronic Engineering, 010306 general physics, NANOMECHANICAL OSCILLATOR, Science & Technology, Optics, Control and Systems Engineering, Quantum technology, RANDOM-WALK, REDUCTION, CAVITY, and Optics, Quantum Physics (quant-ph), Schrödinger's cat
Abstract

Do the laws of quantum physics still hold for macroscopic objects - this is at the heart of Schr\"odinger's cat paradox - or do gravitation or yet unknown effects set a limit for massive particles? What is the fundamental relation between quantum physics and gravity? Ground-based experiments addressing these questions may soon face limitations due to limited free-fall times and the quality of vacuum and microgravity. The proposed mission MAQRO may overcome these limitations and allow addressing those fundamental questions. MAQRO harnesses recent developments in quantum optomechanics, high-mass matter-wave interferometry as well as state-of-the-art space technology to push macroscopic quantum experiments towards their ultimate performance limits and to open new horizons for applying quantum technology in space. The main scientific goal of MAQRO is to probe the vastly unexplored "quantum-classical" transition for increasingly massive objects, testing the predictions of quantum theory for truly macroscopic objects in a size and mass regime unachievable in ground-based experiments. The hardware for the mission will largely be based on available space technology. Here, we present the MAQRO proposal submitted in response to the (M4) Cosmic Vision call of the European Space Agency for a medium-size mission opportunity with a possible launch in 2025., Comment: 38 pages, 10 tables, 23 figures

Published
2015
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40. Thresholds for persistent leaf photochemical damage predict plant drought resilience in a tropical rainforest

Author

Claire Fortunel, Clément Stahl, Sabrina Coste, Camille Ziegler, Géraldine Derroire, Sébastien Levionnois, Isabelle Maréchaux, Damien Bonal, Bruno Hérault, Fabien H. Wagner, Lawren Sack, Jérôme Chave, Patrick Heuret, Steven Jansen, Grace John, Christine Scoffoni, Santiago Trueba, Megan K. Bartlett, Botanique et Modélisation de l'Architecture des Plantes et des Végétations (UMR AMAP), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université de Montpellier (UM), Ecologie des forêts de Guyane (UMR ECOFOG), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-AgroParisTech-Université de Guyane (UG)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles (UA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), SILVA (SILVA), AgroParisTech-Université de Lorraine (UL)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Forêts et Sociétés (UPR Forêts et Sociétés), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad), Institut National Polytechnique Félix Houphouët-Boigny, University of California (UC), Evolution et Diversité Biologique (EDB), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Universität Ulm - Ulm University [Ulm, Allemagne], University of Florida [Gainesville] (UF), California State University [Los Angeles] (CAL STATE LA), Biodiversité, Gènes & Communautés (BioGeCo), Université de Bordeaux (UB)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and ANR-10-LABX-0025,CEBA,CEnter of the study of Biodiversity in Amazonia(2010)

Subjects
Embolism resistance, Tropical, Drought, Photochemistry, Recovery, Physiology, [SDE]Environmental Sciences, Hydraulics, Plant Science, Rehydration
Abstract

International audience; Water stress can cause declines in plant function that persist after rehydration. Recent work has defined ‘resilience’ traits characterizing leaf resistance to persistent damage from drought, but whether these traits predict resilience in whole-plant function is unknown. It is also unknown whether the coordination between resilience and ‘resistance’ – the ability to maintain function during drought – observed globally occurs within ecosystems. For eight rainforest species, we dehydrated and subsequently rehydrated leaves, and measured water stress thresholds for declines in rehydration capacity and maximum quantum yield of photosystem II (Fv/Fm). We tested correlations with embolism resistance and dry season water potentials (ΨMD), and calculated safety margins for damage (ΨMD – thresholds) and tested correlations with drought resilience in sap flow and growth. Ψ thresholds for persistent declines in Fv/Fm, indicating resilience, were positively correlated with ΨMD and thresholds for leaf vein embolism. Safety margins for persistent declines in Fv/Fm, but not rehydration capacity, were positively correlated with drought resilience in sap flow.Correlations between resistance and resilience suggest that species' differences in performance during drought are perpetuated after drought, potentially accelerating shifts in forest composition. Resilience to photochemical damage emerged as a promising functional trait to characterize whole-plant drought resilience.

Published
2023
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41. Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

Author

Aline Vitrac, Claire S. Leblond, Thomas Rolland, Freddy Cliquet, Alexandre Mathieu, Anna Maruani, Richard Delorme, Michael Schön, Andreas M. Grabrucker, Conny van Ravenswaaij-Arts, Katy Phelan, Anne-Claude Tabet, Thomas Bourgeron, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Ulm - Ulm University [Ulm, Allemagne], University of Limerick (UL), University of Groningen [Groningen], Florida Hospital Cancer Institute, This study has been supported by the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA). ERN-ITHACA is partly co-funded by the Health Programme of the European Union. Funding was also obtained from the European Union's Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575. This work was also funded by Institut Pasteur, the Bettencourt-Schueller Foundation, Université de Paris Cité, the Eranet-Neuron (ALTRUISM), the Association Française du Syndrome Phelan-mcDermid and the Association Téhani et les enfants Phelan-McDermid, the GenMed Labex, AIMS-2-TRIALS which received support from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement N° 777394 and the INCEPTION program (Investissement d’Avenir grant ANR-16-CONV-0005). This project has received funding from the European Union's Horizon 2020 research and innovative program CANDY under grant agreement N° 847818., ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-16-CONV-0005,INCEPTION,Institut Convergences pour l'étude de l'Emergence des Pathologies au Travers des Individus et des populatiONs(2016), European Project: 825575,COFUND-EJP, European Project: 777394,H2020-JTI-IMI2-2016-10-two-stage,AIMS-2-TRIALS(2018), and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Subjects
Epilepsy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, Neurodevelopmental disorders, Genetics, Phelan-McDermid syndrome, General Medicine, Brain development, SHANK3, Genetics (clinical)
Abstract

International audience; SHANK3-related Phelan-McDermid syndrome (PMS) is caused by a loss of the distal part of chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an important genetic and phenotypic diversity among patients who can present with developmental delay, language impairments, autism, epilepsy, and other symptoms. SHANK3, encoding a synaptic scaffolding protein, is deleted in the majority of patients with PMS and is considered a major gene involved in the neurological impairments of the patients. However, differences in deletion size can influence clinical features, and in some rare cases, deletions at the 22q13 locus in individuals with SHANK3-unrelated PMS do not encompass SHANK3. These individuals with SHANK3-unrelated PMS still display a PMS-like phenotype. This suggests the participation of other 22q13 genes in the pathogenesis of PMS. Here, we review the biological function and potential implication in PMS symptoms of 110 genes located in the 22q13 region, focusing on 35 genes with evidence for association with neurodevelopmental disorders, including 13 genes for epilepsy and 11 genes for microcephaly and/or macrocephaly. Our review is restricted to the 22q13 region, but future large-scale studies using whole genome sequencing and deep-phenotyping are warranted to develop predictive models of clinical trajectories and to target specific medical and educational care for each individual with PMS.

Published
2023
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42. Higher-dimensional 3-adic CM construction

Author

David Kohel, David Lubicz, Robert Carls, Institute of Mathematics, Universität Ulm - Ulm University [Ulm, Allemagne], School of Mathematics and statistics [Sydney], The University of Sydney, Centre Electronique de l'Armement [Bruz] (CELAR / DGA), Ministère de la Défense, Institut de Recherche Mathématique de Rennes (IRMAR), AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA), Universität Ulm, The University of Sydney [Sydney], Centre Electronique de l'Armement [Bruz] ( CELAR / DGA ), Institut de Recherche Mathématique de Rennes ( IRMAR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -AGROCAMPUS OUEST-École normale supérieure - Rennes ( ENS Rennes ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National des Sciences Appliquées ( INSA ) -Université de Rennes 2 ( UR2 ), Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-École normale supérieure - Rennes (ENS Rennes)-Université de Rennes 2 (UR2)-Centre National de la Recherche Scientifique (CNRS)-INSTITUT AGRO Agrocampus Ouest, and Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)

Subjects
Discrete mathematics, Algebra and Number Theory, j-invariant, Modular equations, 14Kxx, 010102 general mathematics, Modular form, Theta function, CM-methods, 010103 numerical & computational mathematics, Algebraic number field, 01 natural sciences, Modular curve, [ MATH.MATH-AG ] Mathematics [math]/Algebraic Geometry [math.AG], Mathematics::Algebraic Geometry, Classical modular curve, Canonical lift, Hyperelliptic curve cryptography, [MATH.MATH-AG]Mathematics [math]/Algebraic Geometry [math.AG], 0101 mathematics, Hyperelliptic curve, Theta functions, Mathematics
Abstract

We find equations for the higher-dimensional analogue of the modular curve X 0 ( 3 ) using Mumford's algebraic formalism of algebraic theta functions. As a consequence, we derive a method for the construction of genus 2 hyperelliptic curves over small degree number fields whose Jacobian has complex multiplication and good ordinary reduction at the prime 3. We prove the existence of a quasi-quadratic time algorithm for computing a canonical lift in characteristic 3 based on these equations, with a detailed description of our method in genus 1 and 2.

Published
2008
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43. The Early Development of Wheeze: Environmental Determinants and Genetic Susceptibility at 17q21

Author

Loss , Georg J, Depner , Martin, Hose , Alexander J, Genuneit , Jon, Karvonen , Anne M, Hyvärinen , Anne, Roduit , Caroline, Kabesch , Michael, Lauener , Roger, Pfefferle , Petra Ina, Pekkanen , Juha, Dalphin , Jean-Charles, Riedler , Josef, Braun-Fahrländer , Charlotte, Von Mutius , Erika, Ege , Markus J, Swiss Tropical and Public Health Institute [Basel], Ludwig-Maximilians-Universität München, University of Basel ( Unibas ), Institute of Epidemiology, Universität Ulm, Department of Environmental Health, National Institute for Health and Welfare, Department of Health Protection, National Institute for Health and Welfare [Helsinki], Children's Hospital, University hospital of Zurich [Zurich], Christine Kühne – Centre for Allergy Research and Education ( CK-CARE ), Laboratoire Chrono-environnement ( LCE ), Université Bourgogne Franche-Comté ( UBFC ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Franche-Comté ( UFC ), Université de Franche-Comté ( UFC ), Kardinal Schwarzenberg’sches Krankenhaus, University of Munich, Ludwig-Maximilians-Universität München (LMU), University of Basel (Unibas), Universität Ulm - Ulm University [Ulm, Allemagne], Christine Kühne – Centre for Allergy Research and Education (CK-CARE), Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Université de Franche-Comté (UFC), and Université Bourgogne Franche-Comté [COMUE] (UBFC)

Subjects
[SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, ComputingMilieux_MISCELLANEOUS, [ SDV.EE.SANT ] Life Sciences [q-bio]/Ecology, environment/Health
Abstract

International audience

Published
2015

44. Further delineation of the KAT6B molecular and phenotypic spectrum

Author

DDD study, Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill, Regional Genetic Service, St Mary's Hospital, Manchester, Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Haukeland University Hospital, Royal Brsibane and Womens' Hospital, The University of Queensland, Department of Clinical Genetics, Children’s Hospital at Westmead, Service de génétique médicale, AP-HP Hôpital Necker - Enfants Malades [Paris], Institute of Human Genetics, Universität Ulm, Institut für Humangenetik [Essen], Universitätsklinikum Essen, Karolinska University Hospital, Karolinska University Hospital [Stockholm], University Hospitals Bristol, University of Birmingham [Birmingham], Hacettepe University Children's Hospital, Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Division of Genetics, Birth Defects and Metabolism, Children's hospital of Chicago, Clinical Genetics, Guy's Hospital [London], North West london hospitals NHS Trust, Department of Clinical Genetics, Northampton General Hospital, Northampton, Barzilai Medical Center, Cliniques Universitaires St Luc, Université Catholique de Louvain (UCL), Service de génétique [Tours], Hôpital Bretonneau - CHRU Tours, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1) - Centre National de la Recherche Scientifique (CNRS) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique clinique [Rennes], Université de Rennes 1 (UR1) - CHU Pontchaillou [Rennes] - Hôpital Sud, Pediatrics, Istanbul University Cerrahpasa, Birmingham Women’s Hospital, University of Groningen [Groningen], Belfast City Hospital, Centre For Medical Genetics, Clinical Genetic Service, Department of Health, Institute of Medical Genetics, Heath Park, Cardiff, National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin OLCHC, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Dipartimento di Medicina Molecolare, University of Pavia, UZ Leuven - campus Gasthuisberg, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Sheffield Children’s Hospital, Service de Génétique, CHU Reims - Hôpital Maison Blanche - IFR 53, Leiden University Medical Center, Service de Génétique humaine, Université de Lausanne (UNIL), Çocuk Sağlığı ve Hastalıkları, University of Bergen (UiB), Westmead Hospital [Sydney], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Ulm - Ulm University [Ulm, Allemagne], Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Cliniques Universitaires Saint-Luc [Bruxelles], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Sheffield Children's NHS Foundation Trust, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Leiden University Medical Center (LUMC), UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Nottingham University Hospitals NHS Trust (NUH), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Università degli Studi di Pavia = University of Pavia (UNIPV), Universiteit Leiden-Universiteit Leiden, Université de Lausanne = University of Lausanne (UNIL), DDD study, and Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)

Subjects
Male, DNA Mutational Analysis, Medizin, Gene Expression, Kidney, Severity of Illness Index, Craniofacial Abnormalities, Missense mutation, Exome, Genetics (clinical), Histone Acetyltransferases, Genetics, OHDO SYNDROME, Patella, Exons, Hypotonia, 3. Good health, Blepharophimosis/diagnosis, Blepharophimosis/genetics, Child, Preschool, Congenital Hypothyroidism/diagnosis, Congenital Hypothyroidism/genetics, Craniofacial Abnormalities/diagnosis, Craniofacial Abnormalities/genetics, Diagnosis, Differential, Facies, Female, Genetic Association Studies, Genotype, Heart Defects, Congenital/diagnosis, Heart Defects, Congenital/genetics, Histone Acetyltransferases/genetics, Humans, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Joint Instability/diagnosis, Joint Instability/genetics, Kidney/abnormalities, Kidney/pathology, Mutation, Patella/abnormalities, Patella/pathology, Phenotype, Psychomotor Disorders/diagnosis, Psychomotor Disorders/genetics, Scrotum/abnormalities, Scrotum/pathology, Urogenital Abnormalities/diagnosis, Urogenital Abnormalities/genetics, Scrotum, Medical genetics, genitopatellar, Say-Barber-Biesecker, medicine.symptom, Psychomotor disorder, Haploinsufficiency, Heart Defects, Congenital, Joint Instability, medicine.medical_specialty, Biology, Blepharophimosis, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, KAT6B, Article, Intellectual Disability, medicine, Congenital Hypothyroidism, CAUSE GENITOPATELLAR SYNDROME, medicine.disease, blepharophimosis, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Urogenital Abnormalities, Genitopatellar syndrome, HISTONE ACETYLTRANSFERASE KAT6B, Psychomotor Disorders, MENTAL-RETARDATION
Abstract

International audience; KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.

Published
2015
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45. Training Schr\'odinger's cat: quantum optimal control

Author

Glaser, Stefffen J., Boscain, Ugo, Calarco, Tommaso, Koch, Christiane P., Köckenberger, Walter, Kosloff, Ronnie, Kuprov, Ilya, Luy, Burkard, Schirmer, Sophie, Schulte-Herbrüggen, Thomas, Sugny, Dominique, Wilhelm, Frank K., Sigalotti, Mario, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Centre de Mathématiques Appliquées - Ecole Polytechnique (CMAP), École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS), Geometric Control Design (GECO), École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS)-Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Centre National de la Recherche Scientifique (CNRS), Institute for Quantum Information Processing, Universität Ulm - Ulm University [Ulm, Allemagne], Department of Biology, Division of Biochemistry, Friedrich-Alexander, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Sir Peter Mansfield Magnetic Resonance Centre [Nottingham], University of Nottingham, UK (UON), The Fritz Haber Research Center for Molecular Dynamics [Jerusalem], The Hebrew University of Jerusalem (HUJ), University of Southampton, Karlsruher Institut für Technologie (KIT), Institut de Recherche en Immunologie et en Cancérologie [UdeM-Montréal] (IRIC), Université de Montréal (UdeM), Laboratoire Interdisciplinaire Carnot de Bourgogne (LICB), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), European Synchrotron Radiation Facility (ESRF), Technische Universität München [München] ( TUM ), Centre de Mathématiques Appliquées - Ecole Polytechnique ( CMAP ), École polytechnique ( X ) -Centre National de la Recherche Scientifique ( CNRS ), Geometric Control Design ( GECO ), Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique ( Inria ) -Institut National de Recherche en Informatique et en Automatique ( Inria ) -École polytechnique ( X ) -Centre National de la Recherche Scientifique ( CNRS ), Centre National de la Recherche Scientifique ( CNRS ), Universität Ulm, Friedrich-Alexander Universität Erlangen-Nürnberg ( FAU ), University of Nottingham, UK ( UON ), The Hebrew University of Jerusalem ( HUJ ), University of Southampton [Southampton], Karlsruher Institut für Technologie ( KIT ), Institut de Recherche en Immunologie et en Cancérologie ( IRIC ), Université de Montréal, Laboratoire Interdisciplinaire Carnot de Bourgogne ( LICB ), Université de Bourgogne ( UB ) -Centre National de la Recherche Scientifique ( CNRS ), European Synchrotron Radiation Facility ( ESRF ), and Laboratoire Interdisciplinaire Carnot de Bourgogne (ICB)

Subjects
Quantum Physics, [ PHYS.QPHY ] Physics [physics]/Quantum Physics [quant-ph], [PHYS.QPHY]Physics [physics]/Quantum Physics [quant-ph], [PHYS.QPHY] Physics [physics]/Quantum Physics [quant-ph]
Abstract

It is control that turns scientific knowledge into useful technology: in physics and engineering it provides a systematic way for driving a system from a given initial state into a desired target state with minimized expenditure of energy and resources -- as famously applied in the Apollo programme. As one of the cornerstones for enabling quantum technologies, optimal quantum control keeps evolving and expanding into areas as diverse as quantum-enhanced sensing, manipulation of single spins, photons, or atoms, optical spectroscopy, photochemistry, magnetic resonance (spectroscopy as well as medical imaging), quantum information processing and quantum simulation. --- Here state-of-the-art quantum control techniques are reviewed and put into perspective by a consortium uniting expertise in optimal control theory and applications to spectroscopy, imaging, quantum dynamics of closed and open systems. We address key challenges and sketch a roadmap to future developments., Comment: 31 pages; this is the starting point for a living document - we welcome feedback and discussion

Published
2015

46. Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6

Author

Jacobi, Heike, Schaprian, Tamara, Beyersmann, Jan, Tezenas du Montcel, Sophie, Schmid, Matthias, Klockgether, Thomas, EUROSCA, Groups, RISCA Study, Heidelberg University Hospital [Heidelberg], Dendrite Differenciation Group [DZNE - Bonn], German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Institute of Communications Engineering [Ulm] (INT - University of Ulm.), Universität Ulm - Ulm University [Ulm, Allemagne], Sorbonne Université (SU), Algorithms, models and methods for images and signals of the human brain (ARAMIS), Sorbonne Université (SU)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Bonn, Tezenas du Montcel, Sophie, and Universität Bonn = University of Bonn

Subjects
General Neuroscience, Disease Progression, Humans, Spinocerebellar Ataxias, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], ddc:610, genetics [Spinocerebellar Ataxias], Neurology (clinical)
Abstract

International audience; Objective: The aim was to study the evolution of disability in spinocerebellar ataxias (SCAs) type 1, 2, 3, and 6 (SCA1, 2, 3, 6). Methods: We analyzed data of two longitudinal cohorts (RISCA, EUROSCA) which recruited ataxic and non-ataxic SCA1, SCA2, SCA3, and SCA6 mutation carriers. To study disability, we used a five-stage system for ataxia defined by walking ability (stages 0-3) and death (stage 4). Transitions were analyzed using a multi-state model with proportional transition hazards. Based on the hazard estimates, transition probabilities and the expected lengths of stay in each stage were calculated. We further studied the effect of sex and CAG repeat length on progression. Results: Data of 3138 visits in 677 participants were analyzed. Median SARA scores for SCA1, SCA2, SCA3, and SCA6 ranged from 1.5 (interquartile range [IQR] = 0.0-3.5) to 3.5 (IQR = 1.4-6.1) in stage 0, 11.5 (IQR = 9.6-14.0) to 13.8 (IQR = 11.0-16.0) in stage 1, 19.0 (IQR = 17.0-21.0) to 23.8 (IQR = 19.5-27.0) in stage 2, and 28.5 (IQR = 26.0-32.5) to 34.0 (IQR = 32.6-37.1) in stage 3. Modeling allowed to calculate the subtype-specific probability to be in a certain stage at a given age and duration of each stage. CAG repeat length was associated with faster progression in SCA1 (HR, 95% CI: 1.1, 1.1-1.2), SCA2 (1.2, 1.1-1.3), and SCA3 (1.1, 1.0-1.2). In SCA6, female sex was associated with faster progression (1.7, 1.1-2.6). Interpretation: Our data are important for counselling of patients, assessment of the relevance of outcome markers, and design of clinical trials.

Published
2022
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47. Fear and cultural background drive sexual prejudice in France – a sentiment analysis approach

Author

Fronhofer, N.-M., Herbert, C., Durand, V., Alvergne, A., Raymond, M., Barkat-Defradas, M., Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut de recherche pour le développement [IRD] : UR226-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Universität Ulm - Ulm University [Ulm, Allemagne], University of Oxford, and HomoVox project, Appel à projet CNRS 'Défi Genre' 2016

Subjects
sexual prejudice, [SHS.PSY]Humanities and Social Sciences/Psychology, France, General Medicine, homonegativity
Abstract

Sexual prejudice and its negative consequences remain major issues in Western societies, and numerous studies have tried to pinpoint its sociocultural underpinnings. However, most research has operationalized sexual prejudice via self-report measures or via implicit association tests (IATs), although it surfaces in language use and can be traced in spontaneous speech. Here, we report results from an experimental study investigating sexual prejudice in a corpus of spontaneous speech samples. Specifically, we tested in a context-sensitive sentiment analysis approach which attitudes (negative vs. positive) and emotions (joy, sadness, anger, fear, disgust) were voiced by the participants in response to picture prompts displaying homosexual couples. We also considered the sociocultural basis of prejudicial attitudes, in particular the effects of the participants’ cultural background (France vs. Maghreb), age and gender. We find strong effects of cultural background and gender both on the frequency of negative vs. positive attitudes expressed, and on discrete emotion categories, namely that male Maghrebian participants were more negative and conveyed more fear. The results are discussed in the context of current diversity approaches in France and their implications for potential prejudice regulation strategies. We further discuss in how far our context-sensitive sentiment analysis approach advances research on sexual prejudice.

Published
2022
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48. Plant hydraulic modelling of leaf and canopy fuel moisture content reveals increasing vulnerability of a Mediterranean forest to wildfires under extreme drought

Author

Julien Ruffault, Jean‐Marc Limousin, François Pimont, Jean‐Luc Dupuy, Miquel De Càceres, Hervé Cochard, Florent Mouillot, Chris J. Blackman, José M. Torres‐Ruiz, Russell A. Parsons, Myriam Moreno, Sylvain Delzon, Steven Jansen, Albert Olioso, Brendan Choat, Nicolas Martin‐StPaul, Ecologie des Forêts Méditerranéennes (URFM), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Montpellier (UM), Centre d’Ecologie Fonctionnelle et Evolutive (CEFE), Université Paul-Valéry - Montpellier 3 (UPVM)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro Montpellier, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Montpellier (UM), CREAF - Centre for Ecological Research and Applied Forestries, Laboratoire de Physique et Physiologie Intégratives de l’Arbre en environnement Fluctuant (PIAF), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Clermont Auvergne (UCA), University of Tasmania [Hobart, Australia] (UTAS), US Forest Service, Biodiversité, Gènes & Communautés (BioGeCo), Université de Bordeaux (UB)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Universität Ulm - Ulm University [Ulm, Allemagne], and Western Sydney University

Subjects
Physiology, rought, [SDE]Environmental Sciences, tree mortality, plant hydraulics, process-based modelling, Plant Science, live fuel moisture content, forest flammability, climate changed, wildfire
Abstract

Fuel moisture content (FMC) is a crucial driver of forest fires in many regions world-wide. Yet, the dynamics of FMC in forest canopies as well as their physiological and environmental determinants remain poorly understood, especially under extreme drought.We embedded a FMC module in the trait-based, plant-hydraulic SurEau-Ecos model to provide innovative process-based predictions of leaf live fuel moisture content (LFMC) and canopy fuel moisture content (CFMC) based on leaf water potential (psi Leaf$$ {\psi}_{\mathrm{Leaf}} $$). SurEau-Ecos-FMC relies on pressure-volume (p-v) curves to simulate LFMC and vulnerability curves to cavitation to simulate foliage mortality.SurEau-Ecos-FMC accurately reproduced psi Leaf$$ {\psi}_{\mathrm{Leaf}} $$ and LFMC dynamics as well as the occurrence of foliage mortality in a Mediterranean Quercus ilex forest. Several traits related to water use (leaf area index, available soil water, and transpiration regulation), vulnerability to cavitation, and p-v curves (full turgor osmotic potential) had the greatest influence on LFMC and CFMC dynamics. As the climate gets drier, our results showed that drought-induced foliage mortality is expected to increase, thereby significantly decreasing CFMC.Our results represent an important advance in our capacity to understand and predict the sensitivity of forests to wildfires.

Published
2023
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49. Molecular characterization of Richter syndrome identifies de novo diffuse large B-cell lymphomas with poor prognosis

Author

Broséus, Julien, Hergalant, Sébastien, Vogt, Julia, Tausch, Eugen, Kreuz, Markus, Dartigeas, Caroline, Schneider, Christof, Mottok, Anja, Roos-Weil, Damien, Quinquenel, Anne, Moulin, Charline, Ott, German, Blanchet, Odile, Tomowiak, Cécile, Lazarian, Grégory, Rouyer, Pierre, Tournilhac, Olivier, Bernhart, Stephan H., Chteinberg, Emil, Gauchotte, Guillaume, Lomazzi, Sandra, Chapiro, Elise, Nguyen-Khac, Florence, Chery, Céline, Davi, Frédéric, Hunault, Mathilde, Houlgatte, Rémi, Rosenwald, Andreas, Delmer, Alain, Meyre, David, Béné, Marie-Christine, Thieblemont, Catherine, Lichter, Peter, Guéant, Jean-Louis, Guièze, Romain, Martin-Subero, José Ignacio, Ammerpohl, Ole, Cymbalista, Florence, Feugier, Pierre, Siebert, Reiner, Stilgenbauer, Stephan, Publica, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Universität Ulm - Ulm University [Ulm, Allemagne], Universitätsklinikum Ulm - University Hospital of Ulm, Fraunhofer Institute for Cell Therapy and Immunology (Fraunhofer IZI), Fraunhofer (Fraunhofer-Gesellschaft), Service d'hématologie [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service d'Hématologie Biologique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Immuno-Régulation dans les Maladies Auto-Immunes Inflammatoires et le Cancer - EA 7509 (IRMAIC), Université de Reims Champagne-Ardenne (URCA), Service d'Hématologie [CHRU Nancy], Centre d'investigation clinique - Epidémiologie clinique [Nancy] (CIC-EC), Centre d'investigation clinique [Nancy] (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Robert-Bosch-Krankenhaus, Dr. Margarete Fischer-Bosch Institute for Clinical Pharmacology [Stuttgart], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'hématologie biologique [Avicenne], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Sorbonne Paris Nord, Interdisciplinary Centre for Bioinformatics [Leipzig] (IZBI), Universität Leipzig [Leipzig], Service d’Hématologie Biologique [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Centre de Ressources Biologiques - [Nancy] (CRB Nancy), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Biochimie – Biologie moléculaire et Nutrition [CHRU Nancy], Service d'hématologie [Angers], PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Institute of pathology [Würzburg], Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'Hémato-oncologie [CHU Saint-Louis], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany, Cancer Epigenetics Group, Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, Barcelona, Spain, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), and Hergalant, Sébastien

Subjects
[SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Epigenomics, Chronic lymphocytic leukaemia, Lymphoma, B-Cell, B-Zell-Lymphom, biostatistics, General Physics and Astronomy, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.GEN] Life Sciences [q-bio]/Genetics, General Biochemistry, Genetics and Molecular Biology, integrative genomics, DDC 570 / Life sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], ddc:570, ddc:610, Transcriptomics, Epigenetik, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Multidisciplinary, B-cell lymphoma, Gene Expression Profiling, Computational Biology, classifiers, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, bioinformatics, General Chemistry, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Computational biology and bioinformatics, DLBCL, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Chronic lymphocytic leukemia, Epigenetics, Richter syndrome, DDC 610 / Medicine & health, CLL
Abstract

Richter syndrome (RS) is the transformation of chronic lymphocytic leukemia (CLL) into aggressive lymphoma, most commonly diffuse large B-cell lymphoma (DLBCL). We characterize 58 primary human RS samples by genome-wide DNA methylation and whole-transcriptome profiling. Our comprehensive approach determines RS DNA methylation profile and unravels a CLL epigenetic imprint, allowing CLL-RS clonal relationship assessment without the need of the initial CLL tumor DNA. DNA methylation- and transcriptomic-based classifiers were developed, and testing on landmark DLBCL datasets identifies a poor-prognosis, activated B-cell-like DLBCL subset in 111/1772 samples. The classification robustly identifies phenotypes very similar to RS with a specific genomic profile, accounting for 4.3-8.3% of de novo DLBCLs. In this work, RS multi-omics characterization determines oncogenic mechanisms, establishes a surrogate marker for CLL-RS clonal relationship, and provides a clinically relevant classifier for a subset of primary “RS-type DLBCL” with unfavorable prognosis., publishedVersion

Published
2023
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50. Long-term air pollution exposure and Parkinson's disease mortality in a large pooled European cohort: An ELAPSE study

Author

Cole-Hunter, Thomas, Zhang, Jiawei, So, Rina, Samoli, Evangelia, Liu, Shuo, Chen, Jie, Strak, Maciej, Wolf, Kathrin, Weinmayr, Gudrun, Rodopolou, Sophia, Remfry, Elizabeth, de Hoogh, Kees, Bellander, Tom, Brandt, Jørgen, Concin, Hans, Zitt, Emanuel, Fecht, Daniela, Forastiere, Francesco, Gulliver, John, Hoffmann, Barbara, Hvidtfeldt, Ulla A, Jöckel, Karl-Heinz, Mortensen, Laust H, Ketzel, Matthias, Yacamán Méndez, Diego, Leander, Karin, Ljungman, Petter, Faure, Elodie, Lee, Pei-Chen, Elbaz, Alexis, Magnusson, Patrik K E, Nagel, Gabriele, Pershagen, Göran, Peters, Annette, Rizzuto, Debora, Vermeulen, Roel C H, Schramm, Sara, Stafoggia, Massimo, Katsouyanni, Klea, Brunekreef, Bert, Hoek, Gerard, Lim, Youn-Hee, Andersen, Zorana J, IRAS OH Epidemiology Chemical Agents, University of Copenhagen = Københavns Universitet (UCPH), National and Kapodistrian University of Athens (NKUA), Utrecht University [Utrecht], Helmholtz Zentrum München = German Research Center for Environmental Health, Universität Ulm - Ulm University [Ulm, Allemagne], Queen Mary University of London (QMUL), University of Basel (Unibas), Karolinska Institutet [Stockholm], Aarhus University [Aarhus], Medizinische Universität Wien = Medical University of Vienna, Imperial College London, University of Leicester, Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Danish Cancer Society Research Center [Copenhagen, Denmark] (DCSRC), University of Duisburg-Essen, University of Surrey (UNIS), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Institut Gustave Roussy (IGR), National Cheng Kung University (NCKU), Ludwig-Maximilians-Universität München (LMU), Lazio Regional Health Service [Rome], NNF17OC0027812, U.S. Environmental Protection Agency, EPA: R-82811201, Health Effects Institute, HEI: 4954-RFA14-3/16-5-3, Bundesministerium für Bildung und Forschung, BMBF, Karolinska Institutet, KI, Vetenskapsrådet, VR: 2017-00641, Rijksinstituut voor Volksgezondheid en Milieu, RIVM, Novo Nordisk Fonden, NNF, Deutsches Forschungszentrum für Gesundheit und Umwelt, Helmholtz Zentrum München, This study was supported by the Health Effects Institute (HEI) (#4954-RFA14-3/16-5-3) and the Novo Nordisk Foundation Challenge Programme [NNF17OC0027812]. The HEI is an organization jointly funded by the United States Environmental Protection Agency (EPA) (Assistance Award No. R-82811201) and certain motor vehicle and engine manufacturers. The contents of this article do not necessarily reflect the views of HEI, or its sponsors, nor do they necessarily reflect the views and policies of the EPA or motor vehicle and engine manufacturers. While HEI has reviewed and approved the study design, it was not involved in data collection and analysis, decision to publish, or preparation of the manuscript. We give thanks to all participants in the pooled cohort studies and the respective study teams of the ELAPSE project for their hard work and effort. Accordingly, we especially thank Marjan Tewis for conducting data management tasks when creating the pooled cohort database. In addition, we specifically thank the National Institute for Public Health and the Environment (RIVM), Bilthoven, the Netherlands, for their contribution to the ELAPSE project. SALT and TwinGene are sub-studies of The Swedish Twin Registry (STR), which is managed by Karolinska Institutet and receives additional funding through the Swedish Research Council (No. 2017-00641). The KORA study was initiated and financed by the Helmholtz Zentrum München – German Research Center for Environmental Health, which is funded by the German Federal Ministry of Education and Research (BMBF) and by the State of Bavaria. The Novo Nordisk Foundation, the Swedish Research Council, the German Federal Ministry of Education and Research, and the State of Bavaria were not involved in the study design, data collection and analysis, decision to publish, or preparation of the manuscript., HAL UVSQ, Équipe, and IRAS OH Epidemiology Chemical Agents

Subjects
Parkinson’s Disease, [SDV] Life Sciences [q-bio], Parkinson's Disease, Environmental Science(all), [SDV]Life Sciences [q-bio], Long-term exposure, Medizin, Air pollution, Adults, Low-level exposure, Pooled-cohort study, General Environmental Science
Abstract

Background: The link between exposure to ambient air pollution and mortality from cardiorespiratory diseases is well established, while evidence on neurodegenerative disorders including Parkinson's Disease (PD) remains limited. Objective: We examined the association between long-term exposure to ambient air pollution and PD mortality in seven European cohorts. Methods: Within the project ‘Effects of Low-Level Air Pollution: A Study in Europe’ (ELAPSE), we pooled data from seven cohorts among six European countries. Annual mean residential concentrations of fine particulate matter (PM2.5), nitrogen dioxide (NO2), black carbon (BC), and ozone (O3), as well as 8 PM2.5 components (copper, iron, potassium, nickel, sulphur, silicon, vanadium, zinc), for 2010 were estimated using Europe-wide hybrid land use regression models. PD mortality was defined as underlying cause of death being either PD, secondary Parkinsonism, or dementia in PD. We applied Cox proportional hazard models to investigate the associations between air pollution and PD mortality, adjusting for potential confounders. Results: Of 271,720 cohort participants, 381 died from PD during 19.7 years of follow-up. In single-pollutant analyses, we observed positive associations between PD mortality and PM2.5 (hazard ratio per 5 µg/m3: 1.25; 95% confidence interval: 1.01–1.55), NO2 (1.13; 0.95–1.34 per 10 µg/m3), and BC (1.12; 0.94–1.34 per 0.5 × 10-5m-1), and a negative association with O3 (0.74; 0.58–0.94 per 10 µg/m3). Associations of PM2.5, NO2, and BC with PD mortality were linear without apparent lower thresholds. In two-pollutant models, associations with PM2.5 remained robust when adjusted for NO2 (1.24; 0.95–1.62) or BC (1.28; 0.96–1.71), whereas associations with NO2 or BC attenuated to null. O3 associations remained negative, but no longer statistically significant in models with PM2.5. We detected suggestive positive associations with the potassium component of PM2.5. Conclusion: Long-term exposure to PM2.5, at levels well below current EU air pollution limit values, may contribute to PD mortality.

Published
2023
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