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1,123 results on '"Richard, Isabelle"'

7. Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Author

Cardone, Nastasia, Moula, Melissa, Baelde, Rianne J., Biquand, Ariane, Villanova, Marcello, Metay, Corinne, Fiorillo, Chiara, Baratto, Serena, Merlini, Luciano, Sabatelli, Patrizia, Romero, Norma B., Relaix, Frederic, Authier, François Jérôme, Taglietti, Valentina, Savarese, Marco, de Winter, Josine, Ottenheijm, Coen, Richard, Isabelle, and Malfatti, Edoardo

Published
2023
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12. Ancient genomes from present-day France unveil 7,000 years of its demographic history

Author

Brunel, Samantha, Bennett, E. Andrew, Cardin, Laurent, Garraud, Damien, Emam, Hélène Barrand, Beylier, Alexandre, Boulestin, Bruno, Chenal, Fanny, Ciesielski, Elsa, Convertini, Fabien, Dedet, Bernard, Desbrosse-Degobertiere, Stéphanie, Desenne, Sophie, Dubouloz, Jerôme, Duday, Henri, Escalon, Gilles, Fabre, Véronique, Gailledrat, Eric, Gandelin, Muriel, Gleize, Yves, Goepfert, Sébastien, Guilaine, Jean, Hachem, Lamys, Ilett, Michael, Lambach, François, Maziere, Florent, Perrin, Bertrand, Plouin, Suzanne, Pinard, Estelle, Praud, Ivan, Richard, Isabelle, Riquier, Vincent, Roure, Réjane, Sendra, Benoit, Thevenet, Corinne, Thiol, Sandrine, Vauquelin, Elisabeth, Vergnaud, Luc, Grange, Thierry, Geigl, Eva-Maria, and Pruvost, Melanie

Published
2020

17. In Silico Structural Prediction for the Generation of Novel Performant Midi-Dystrophins Based on Intein-Mediated Dual AAV Approach.

Author

Palmieri, Laura, Ferrand, Maxime, Vu Hong, Ai, Richard, Isabelle, and Albini, Sonia

Subjects
MACHINE learning, CYTOSKELETAL proteins, DUCHENNE muscular dystrophy, PROTEIN domains, DYSTROPHIN, DEEP learning
Abstract

Duchenne Muscular Dystrophy (DMD) is a pediatric disorder characterized by progressive muscle degeneration and premature death, and has no current cure. The current, most promising therapeutic avenue is based on gene replacement mediated by adeno-associated viruses (AAVs) using a shortened, but still functional, version of dystrophin, known as micro-dystrophin (µDys), to fit AAV capacity. The limited improvements observed in clinical trials suggest a sub-optimal performance of µDys in the human context that could be due to the lack of key domains in the protein. Therefore, expressing larger dystrophin proteins may be necessary for a more complete correction of the disease phenotype. In this study, we developed three novel midi-dystrophin constructs using a dual-AAV approach, leveraging split-intein-based protein trans-splicing. The midi-dystrophins include additional domains compared to µDys, such as the central cytoskeleton-binding domain, nNOS and Par1b interacting domains, and a complete C-terminal region. Given the limited capacity of each AAV vector, we strategically partially reduced hinge regions while ensuring that the structural stability of the protein remains intact. We predicted the interactions between the two halves of the split midi-Dys proteins thanks to the deep learning algorithm AphaFold3. We observed strong associations between the N- and C-termini in midi-Dys 1 and 2, while a weaker interaction in midi-Dys 3 was revealed. Our subsequent experiments confirmed the efficient protein trans-splicing both in vitro and in vivo in DBA2/mdx mice of the midi-Dys 1 and 2 and not in midi-Dys 3 as expected from the structural prediction. Additionally, we demonstrated that midi-Dys 1 and 2 exhibit significant therapeutic efficacy in DBA2/mdx mice, highlighting their potential as therapeutic agents for DMD. Overall, these findings highlight the potential of deep learning-based structural modeling for the generation of intein-based dystrophin versions and pose the basis for further investigation of these new midi-dystrophins versions for clinical studies. [ABSTRACT FROM AUTHOR]

Published
2024
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29. Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression

Author

Vidal, Patrice, Pagliarani, Serena, Colella, Pasqualina, Costa Verdera, Helena, Jauze, Louisa, Gjorgjieva, Monika, Puzzo, Francesco, Marmier, Solenne, Collaud, Fanny, Simon Sola, Marcelo, Charles, Severine, Lucchiari, Sabrina, van Wittenberghe, Laetitia, Vignaud, Alban, Gjata, Bernard, Richard, Isabelle, Laforet, Pascal, Malfatti, Edoardo, Mithieux, Gilles, Rajas, Fabienne, Comi, Giacomo Pietro, Ronzitti, Giuseppe, and Mingozzi, Federico

Published
2018
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31. The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

Author

Lange, Stephan, Xiang, Fengqing, Yakovenko, Andrey, Vihola, Anna, Hackman, Peter, Rostkova, Elena, Kristensen, Jakob, Brandmeier, Birgit, Franzen, Gereon, Hedberg, Birgitta, Gunnarsson, Lars Gunnar, Hughes, Simon M., Marchand, Sylvie, Sejersen, Thomas, Richard, Isabelle, Edström, Lars, Ehler, Elisabeth, Udd, Bjarne, and Gautel, Mathias

Published
2005

38. Modeling Sarcoglycanopathy in Danio rerio

Author

Dalla Barba, Francesco, primary, Soardi, Michela, additional, Mouhib, Leila, additional, Risato, Giovanni, additional, Akyürek, Eylem Emek, additional, Lucon-Xiccato, Tyrone, additional, Scano, Martina, additional, Benetollo, Alberto, additional, Sacchetto, Roberta, additional, Richard, Isabelle, additional, Argenton, Francesco, additional, Bertolucci, Cristiano, additional, Carotti, Marcello, additional, and Sandonà, Dorianna, additional

Published
2023
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44. Impact de facteurs non acoustiques lors de tests d'écoute en laboratoire sur bruit aéroportuaire

Author

Legriffon, Ingrid, Lebouc, Eloïse, Tardieu, Julien, Boullet, Isabelle, Lavandier, Catherine, Richard, Isabelle, Magnen, Cynthia, DAAA, ONERA, Université Paris-Saclay [Châtillon], ONERA-Université Paris-Saclay, Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA), Maison des Sciences de l'Homme et de la Société de Toulouse (MSHS-T), Centre National de la Recherche Scientifique (CNRS)-Université de Toulouse (UT), Laboratoire de Mécanique et d'Acoustique [Marseille] (LMA ), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), Equipes Traitement de l'Information et Systèmes (ETIS - UMR 8051), Ecole Nationale Supérieure de l'Electronique et de ses Applications (ENSEA)-Centre National de la Recherche Scientifique (CNRS)-CY Cergy Paris Université (CY), Environnons consulting, parent, and CRETIN, Dorine

Subjects
Laboratory test, [PHYS]Physics [physics], [SPI]Engineering Sciences [physics], Test ecoute, [SPI] Engineering Sciences [physics], Bruit avion, Non-acoustical factor, Aircraft noise, [PHYS] Physics [physics], Facteur non acoustique
Abstract

It is well known that acoustical factors explain only partly the human perception of aircraft noise. In order to truly understand annoyance ratings, acoustical and non-acoustical factors have to be taken into consideration, making it often complex to analyze studies that treat only one side of the issue. While field studies give a good insight of long-term annoyance in realistic living conditions, laboratory tests are commonly used as means to understand the impact of acoustic factors on noise annoyance and unpleasantness while usually smoothing inter individual differences. A French project (CIGALE) has set a goal of creating a frame of reference making it possible to include non-acoustical factors into laboratory studies. After an extensive field study and focus groups in the first part of the project resulting in six different profiles of residents, the second part comprises a vast laboratory test campaign in Toulouse and Paris region aiming at evaluating the impact of these profiles on the perception of two common acoustical factors in an ecological experimental setup. Overall more than 300 residents of the Toulouse Blagnac airport area and the Roissy Charles de Gaulle airport area participated in the CIGALE listening test. Participants were asked to read novels while seated in a listening room with a 3D audio simulation of an everyday soundscape. They were asked to rate their perception of four 15 minutes sequences randomly presented in which the number of aircraft flyovers and the maximum A-weighted sound level of each flyover were varied. Four different scales were used: task interference, mental effort, annoyance and comfort. The results support the hypothesis that profile type and noise sensitivity have an impact on annoyance ratings. The collected data also highlighted different response strategies regarding acoustical factors that need to be further investigated., Il est bien connu que les facteurs acoustiques n'expliquent qu'en partie la perception humaine du bruit des avions. Afin de bien comprendre une évaluation de gêne, les facteurs acoustiques et non acoustiques doivent être pris en compte, ce qui rend souvent complexe l'analyse d'études qui ne traitent qu'un aspect du problème. Alors que les études sur le terrain donnent un bon aperçu de la gêne à long terme dans des conditions de vie réalistes, les tests en laboratoire sont couramment utilisés pour comprendre l'impact des facteurs acoustiques sur la gêne et le désagrément liés au bruit, tout en atténuant généralement les différences interindividuelles. Un projet français (CIGALE) s'est fixé pour objectif de créer un référentiel permettant d'intégrer des facteurs non acoustiques dans les études en laboratoire. Après une vaste étude de terrain et des ateliers participatifs dans une première partie du projet aboutissant à six profils d'habitants différents, la seconde partie comprend une vaste campagne de tests en laboratoire à Toulouse et en région Parisienne visant à évaluer l'impact de ces profils sur la perception de deux facteurs acoustiques communs dans un montage expérimental écologique. Au total plus de 300 habitants de la région aéroportuaire de Toulouse Blagnac et de celle de Roissy Charles de Gaulle ont participé au test d'écoute CIGALE. Les participants ont été invités à lire des romans assis dans une salle d'écoute avec une simulation audio 3D d'un paysage sonore représentant une situation sonore rencontrée au quotidien. On leur a demandé d'évaluer leur perception de quatre séquences sonores de 15 minutes présentées au hasard dans lesquelles le nombre de survols d'aéronefs et le niveau sonore maximal de chaque survol étaient modifiés. Quatre échelles différentes ont été utilisées : l'interférence sur la tâche, l'effort mental, la gêne et le confort. Les résultats soutiennent l'hypothèse selon laquelle le type de profil et la sensibilité au bruit ont un impact sur les notations de gêne. Les données collectées ont également mis en évidence différentes stratégies de réponse concernant les facteurs acoustiques qui doivent être étudiées plus en détail.

Published
2023

48. Real world evidence : Perspectives from a European Society of Cardiology Cardiovascular Round Table with contribution from the European Medicines Agency

Author

Szymanski, Piotr, Weidinger, Franz, Lordereau-Richard, Isabelle, Himmelmann, Anders, Arca, Marcello, Chaves, Jose, Lee, Charles, Jonker, Carla, Kotecha, Dipak, O'Kelly, James, Plueschke, Kelly, Rys, Andrzej, Segec, Andrej, Wallentin, Lars, Veltrop, Rogier, James, Stefan, Szymanski, Piotr, Weidinger, Franz, Lordereau-Richard, Isabelle, Himmelmann, Anders, Arca, Marcello, Chaves, Jose, Lee, Charles, Jonker, Carla, Kotecha, Dipak, O'Kelly, James, Plueschke, Kelly, Rys, Andrzej, Segec, Andrej, Wallentin, Lars, Veltrop, Rogier, and James, Stefan

Abstract

Real world data (RWD) refers to healthcare information that is routinely collected in electronic healthcare records (EHR), hospital and pharmacy records, patient and disease registries, and health insurance databases. The collection and analysis of this vast amount of data is an important complement to that obtained from conventional randomised controlled trials (RCT). Real world data has been used for healthcare quality improvements, to conduct clinical trials, to support drug and device development, and to inform medical guidelines. The utility of RWD may be facilitated by common data models, which standardise format and content, and allow data from different health systems to be analysed together. The European Society of Cardiology (ESC) supports the use of RWD in collaboration with national cardiac societies, regulatory authorities, and industry to encourage continuous quality of care improvements at the hospital and country level, to conduct registry-based randomised clinical trials (R-RCT) and to facilitate safety surveillance of novel drugs and devices. The European Medicines Agency (EMA) is developing systems and processes to enable the use of RWD that can help in trial planning, defining clinical contexts, and enhancing outcome assessments. RWD can also contribute to the measurement of the impact of regulatory actions, such as contraindications or restriction of indications by looking at medicines use patterns over time across European Member States. A number of other initiatives from the European Commission and the EMA are underway to strengthen the EU's health security framework, and foster the collection and utilisation of RWD.

Published
2023
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