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338 results on '"Redon, A."'

1. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille

Published
2024
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2. Measurement of the 2νββ Decay Rate and Spectral Shape of Mo100 from the CUPID-Mo Experiment

Author

Augier, C, Barabash, AS, Bellini, F, Benato, G, Beretta, M, Bergé, L, Billard, J, Borovlev, Yu A, Cardani, L, Casali, N, Cazes, A, Celi, E, Chapellier, M, Chiesa, D, Dafinei, I, Danevich, FA, De Jesus, M, Dixon, T, Dumoulin, L, Eitel, K, Ferri, F, Fujikawa, BK, Gascon, J, Gironi, L, Giuliani, A, Grigorieva, VD, Gros, M, Helis, DL, Huang, HZ, Huang, R, Imbert, L, Johnston, J, Juillard, A, Khalife, H, Kleifges, M, Kobychev, VV, Kolomensky, Yu G, Konovalov, SI, Kotila, J, Loaiza, P, Ma, L, Makarov, EP, de Marcillac, P, Mariam, R, Marini, L, Marnieros, S, Navick, X-F, Nones, C, Norman, EB, Olivieri, E, Ouellet, JL, Pagnanini, L, Pattavina, L, Paul, B, Pavan, M, Peng, H, Pessina, G, Pirro, S, Poda, DV, Polischuk, OG, Pozzi, S, Previtali, E, Redon, Th, Rojas, A, Rozov, S, Sanglard, V, Scarpaci, JA, Schmidt, B, Shen, Y, Shlegel, VN, Šimkovic, F, Singh, V, Tomei, C, Tretyak, VI, Umatov, VI, Vagneron, L, Velázquez, M, Ware, B, Welliver, B, Winslow, L, Xue, M, Yakushev, E, Zarytskyy, M, and Zolotarova, AS

Subjects
Nuclear and Plasma Physics, Particle and High Energy Physics, Physical Sciences, Clinical Research, CUPID-Mo Collaboration, Mathematical Sciences, Engineering, General Physics, Mathematical sciences, Physical sciences
Abstract

Neutrinoless double beta decay (0νββ) is a yet unobserved nuclear process that would demonstrate Lepton number violation, a clear evidence of beyond standard model physics. The process two neutrino double beta decay (2νββ) is allowed by the standard model and has been measured in numerous experiments. In this Letter, we report a measurement of 2νββ decay half-life of ^{100}Mo to the ground state of ^{100}Ru of [7.07±0.02(stat)±0.11(syst)]×10^{18}  yr by the CUPID-Mo experiment. With a relative precision of ±1.6% this is the most precise measurement to date of a 2νββ decay rate in ^{100}Mo. In addition, we constrain higher-order corrections to the spectral shape, which provides complementary nuclear structure information. We report a novel measurement of the shape factor ξ_{3,1}=0.45±0.03(stat)±0.05(syst) based on a constraint on the ratio of higher-order terms from theory, which can be reliably calculated. This is compared to theoretical predictions for different nuclear models. We also extract the first value for the effective axial vector coupling constant obtained from a spectral shape study of 2νββ decay.

Published
2023

3. Adherence to clinical practice guidelines for using electroconvulsive therapy in elderly depressive patients

Author

Antoine Yrondi, Olivier Blanc, Loic Anguill, Christophe Arbus, Ludivine Boudieu, Marie-Camille Patoz, Adeline Arnould, Thomas Charpeaud, Jean-Baptiste Genty, Racan Abidine, Maximilien Redon, Romain Rey, Bruno Aouizerate, Djamila Bennabi, Wissam El-Hage, Bruno Etain, Jérôme Holtzmann, Marion Leboyer, Fanny Molière, Raphaelle Marie Richieri, Florian Stéphan, Guillaume Vaiva, Anne Sauvaget, Emmanuel Poulet, Emmanuel Haffen, Philippe Courtet, Philippe Fossati, Pierre-Michel Llorca, and Ludovic Samalin

Subjects
ECT, Mood disorder, Major depressive disorder, Bipolar disorder, Geriatric patients, Psychiatry, RC435-571
Abstract

Abstract Objectives Electroconvulsive therapy (ECT) is one of the most effective treatments in mood disorders, mainly in major depressive episode (MDE) in the context of either unipolar (MDD) or bipolar disorder (BD). However, ECT remains a neglected and underused treatment. Older people are at high risk patients for the development of adverse drug reactions. In this context, we sought to determine the duration of MDEs and the number of lines of treatment before the initiation of ECT in patients aged 65 years or over according to the presence or absence of first-line indications for using ECT from international guidelines. Methods In this multicenter, retrospective study including patients aged 65 years or over with MDEs in MDD or BD who have been treated with ECT for MDEs, data on the duration of MDEs and the number of lines of treatment received before ECT were collected. The reasons for using ECT, specifically first-line indications (suicidality, urgency, presence of catatonic and psychotic features, previous ECT response, patient preference) were recorded. Statistical comparisons between groups used standard statistical tests. Results We identified 335 patients. The mean duration of MDEs before ECT was about 9 months. It was significantly shorter in BD than in MDD- about 7 and 10 months, respectively. The co-occurrence of chronic medical disease increased the duration before ECT in the MDD group. The presence of first-line indications for using ECT from guidelines did not reduce the duration of MDEs before ECT, except where there was a previous response to ECT. The first-line indications reduced the number of lines of treatment before starting ECT. Conclusion Even if ECT seems to be a key treatment in the elderly population due to its efficacity and safety for MDEs, the delay before this treatment is still too long.

Published
2024
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4. 15 years of Big Data: a systematic literature review

Author

Davide Tosi, Redon Kokaj, and Marco Roccetti

Subjects
Big Data, Systematic literature review, SLR, Data analysis, Artificial intelligence, Computer engineering. Computer hardware, TK7885-7895, Information technology, T58.5-58.64, Electronic computers. Computer science, QA75.5-76.95
Abstract

Abstract Big Data is still gaining attention as a fundamental building block of the Artificial Intelligence and Machine Learning world. Therefore, a lot of effort has been pushed into Big Data research in the last 15 years. The objective of this Systematic Literature Review is to summarize the current state of the art of the previous 15 years of research about Big Data by providing answers to a set of research questions related to the main application domains for Big Data analytics; the significant challenges and limitations researchers have encountered in Big Data analysis, and emerging research trends and future directions in Big Data. The review follows a predefined procedure that automatically searches five well-known digital libraries. After applying the selection criteria to the results, 189 primary studies were identified as relevant, of which 32 were Systematic Literature Reviews. Required information was extracted from the 32 studies and summarized. Our Systematic Literature Review sketched the picture of 15 years of research in Big Data, identifying application domains, challenges, and future directions in this research field. We believe that a substantial amount of work remains to be done to align and seamlessly integrate Big Data into data-driven advanced software solutions of the future.

Published
2024
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5. TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

Author

Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E. van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean J. Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T. Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M. Christoffels, Vincent Probst, Jean-Jacques Schott, and Julien Barc

Subjects
Science
Abstract

Abstract While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial for tissue-specific gene regulation, the extent of their involvement in human Mendelian disease is largely unknown. Here, we identify 7 families presenting a new cardiac entity associated with a heterozygous deletion of 2 CTCF binding sites on 4q25, inducing TAD fusion and chromatin conformation remodeling. The CTCF binding sites are located in a gene desert at 1 Mb from the Paired-like homeodomain transcription factor 2 gene (PITX2). By introducing the ortholog of the human deletion in the mouse genome, we recapitulate the patient phenotype and characterize an opposite dysregulation of PITX2 expression in the sinoatrial node (ectopic activation) and ventricle (reduction), respectively. Chromatin conformation assay performed in human induced pluripotent stem cell-derived cardiomyocytes harboring the minimal deletion identified in family#1 reveals a conformation remodeling and fusion of TADs. We conclude that TAD remodeling mediated by deletion of CTCF binding sites causes a new autosomal dominant Mendelian cardiac disorder.

Published
2024
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6. New measurement of double-β decays of Mo100 to excited states of Ru100 with the CUPID-Mo experiment

Author

Augier, C, Barabash, AS, Bellini, F, Benato, G, Beretta, M, Bergé, L, Billard, J, Borovlev, Yu A, Cardani, L, Casali, N, Cazes, A, Chapellier, M, Chiesa, D, Dafinei, I, Danevich, FA, De Jesus, M, Dixon, T, Dumoulin, L, Eitel, K, Ferri, F, Fujikawa, BK, Gascon, J, Gironi, L, Giuliani, A, Grigorieva, VD, Gros, M, Helis, DL, Huang, HZ, Huang, R, Imbert, L, Johnston, J, Juillard, A, Khalife, H, Kleifges, M, Kobychev, VV, Kolomensky, Yu G, Konovalov, SI, Kotila, J, Loaiza, P, Ma, L, Makarov, EP, de Marcillac, P, Mariam, R, Marini, L, Marnieros, S, Navick, X-F, Nones, C, Norman, EB, Olivieri, E, Ouellet, JL, Pagnanini, L, Pattavina, L, Paul, B, Pavan, M, Peng, H, Pessina, G, Pirro, S, Poda, DV, Polischuk, OG, Pozzi, S, Previtali, E, Redon, Th, Rojas, A, Rozov, S, Sanglard, V, Scarpaci, JA, Schmidt, B, Shen, Y, Shlegel, VN, Singh, V, Tomei, C, Tretyak, VI, Umatov, VI, Vagneron, L, Velázquez, M, Welliver, B, Winslow, L, Xue, M, Yakushev, E, Zarytskyy, M, and Zolotarova, AS

Subjects
Nuclear and Plasma Physics, Particle and High Energy Physics, Physical Sciences, Nuclear and plasma physics
Abstract

The CUPID-Mo experiment, located at the Laboratoire Souterrain de Modane (France), was a demonstrator experiment for CUPID. It consisted of an array of 20Li2Mo100O4 (LMO) calorimeters, each equipped with a Ge light detector for particle identification. In this work, we present the result of a search for two-neutrino and neutrinoless double-β decays of Mo100 to the first 0+ and 2+ excited states of Ru100 using the full CUPID-Mo exposure (2.71kgyr of LMO). We measure the half-life of 2νββ decay to the 01+ state as T1/22ν→01+=(7.5±0.8(stat.)-0.3+0.4(syst.))×1020yr. The bolometric technique enables measurement of the electron energies as well as the γ rays from nuclear deexcitation and this allows us to set new limits on the two-neutrino decay to the 21+ state of T1/22ν→21+>4.4×1021yr(90% c.i.) and on the neutrinoless modes of T1/20ν→21+>2.1×1023yr(90% c.i.), T1/20ν→01+>1.2×1023yr(90% c.i.). Information on the electrons' spectral shape is obtained, which allows us to make the first comparison of the single and higher state dominance 2νββ decay models for the 01+ excited state of Ru100.

Published
2023

7. Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?

Author

Virginie Vignard, Alban-Elouen Baruteau, Bérénice Toutain, Sandra Mercier, Bertrand Isidor, Richard Redon, Jean-Jacques Schott, Sébastien Küry, Stéphane Bézieau, Anne H. Monsoro-Burq, and Frédéric Ebstein

Subjects
neurodevelopmental proteasomopathies, cardiac malformations, craniofacial anomalies, neural crest cells, protein homeostasis, compensatory pathways, Biology (General), QH301-705.5
Abstract

Neurodevelopmental proteasomopathies constitute a recently defined class of rare Mendelian disorders, arising from genomic alterations in proteasome-related genes. These alterations result in the dysfunction of proteasomes, which are multi-subunit protein complexes essential for maintaining cellular protein homeostasis. The clinical phenotype of these diseases manifests as a syndromic association involving impaired neural development and multisystem abnormalities, notably craniofacial anomalies and malformations of the cardiac outflow tract (OFT). These observations suggest that proteasome loss-of-function variants primarily affect specific embryonic cell types which serve as origins for both craniofacial structures and the conotruncal portion of the heart. In this hypothesis article, we propose that neural crest cells (NCCs), a highly multipotent cell population, which generates craniofacial skeleton, mesenchyme as well as the OFT of the heart, in addition to many other derivatives, would exhibit a distinctive vulnerability to protein homeostasis perturbations. Herein, we introduce the diverse cellular compensatory pathways activated in response to protein homeostasis disruption and explore their potential implications for NCC physiology. Altogether, the paper advocates for investigating proteasome biology within NCCs and their early cranial and cardiac derivatives, offering a rationale for future exploration and laying the initial groundwork for therapeutic considerations.

Published
2024
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8. Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line

Author

Michelle Geryk, Robin Canac, Virginie Forest, Pierre Lindenbaum, Aurore Girardeau, Manon Baudic, Estelle Baron, Anne Bibonne, Caroline Chariau, Florence Kyndt, Richard Redon, Jean-Jacques Schott, Jean-Baptiste Gourraud, Julien Barc, and Flavien Charpentier

Subjects
Biology (General), QH301-705.5
Abstract

Mutations in the DES gene, which encodes the intermediate filament desmin, lead to desminopathy, a rare disease characterized by skeletal muscle weakness and different forms of cardiomyopathies associated with cardiac conduction defects and arrhythmias. We generated human induced pluripotent stem cells (hiPSC) from a patient carrying the DES p.R406W mutation, and employed CRISPR/Cas9 to rectify the mutation in the patient's hiPSC line and introduced the mutation in an hiPSC line from a control individual unrelated to the patient. These hiPSC lines represent useful models for delving into the mechanisms of desminopathy and developing new therapeutic approaches.

Published
2024
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9. The background model of the CUPID-Mo 0νββ experiment

Author

Augier, C, Barabash, AS, Bellini, F, Benato, G, Beretta, M, Bergé, L, Billard, J, Borovlev, Yu A, Cardani, L, Casali, N, Cazes, A, Celi, E, Chapellier, M, Chiesa, D, Dafinei, I, Danevich, FA, De Jesus, M, de Marcillac, P, Dixon, T, Dumoulin, L, Eitel, K, Ferri, F, Fujikawa, BK, Gascon, J, Gironi, L, Giuliani, A, Grigorieva, VD, Gros, M, Helis, DL, Huang, HZ, Huang, R, Imbert, L, Johnston, J, Juillard, A, Khalife, H, Kleifges, M, Kobychev, VV, Kolomensky, Yu G, Konovalov, SI, Kotila, J, Loaiza, P, Ma, L, Makarov, EP, Mariam, R, Marini, L, Marnieros, S, Navick, X-F, Nones, C, Norman, EB, Olivieri, E, Ouellet, JL, Pagnanini, L, Pattavina, L, Paul, B, Pavan, M, Peng, H, Pessina, G, Pirro, S, Poda, DV, Polischuk, OG, Pozzi, S, Previtali, E, Redon, Th, Rojas, A, Rozov, S, Sanglard, V, Scarpaci, JA, Schmidt, B, Shen, Y, Shlegel, VN, Singh, V, Tomei, C, Tretyak, VI, Umatov, VI, Vagneron, L, Velázquez, M, Welliver, B, Winslow, L, Xue, M, Yakushev, E, Zarytskyy, M, and Zolotarova, AS

Subjects
Nuclear and Plasma Physics, Particle and High Energy Physics, Physical Sciences, Atomic, Molecular, Nuclear, Particle and Plasma Physics, Quantum Physics, Nuclear & Particles Physics, Astronomical sciences, Atomic, molecular and optical physics, Particle and high energy physics
Abstract

CUPID-Mo, located in the Laboratoire Souterrain de Modane (France), was a demonstrator for the next generation 0 νββ decay experiment, CUPID. It consisted of an array of 20 enriched Li 2100 MoO 4 bolometers and 20 Ge light detectors and has demonstrated that the technology of scintillating bolometers with particle identification capabilities is mature. Furthermore, CUPID-Mo can inform and validate the background prediction for CUPID. In this paper, we present a detailed model of the CUPID-Mo backgrounds. This model is able to describe well the features of the experimental data and enables studies of the 2 νββ decay and other processes with high precision. We also measure the radio-purity of the Li 2100 MoO 4 crystals which are found to be sufficient for the CUPID goals. Finally, we also obtain a background index in the region of interest of 3.7 -0.8+0.9 (stat) -0.7+1.5 (syst) ×10-3 counts/ Δ EFWHM/ mol iso/ year , the lowest in a bolometric 0 νββ decay experiment.

Published
2023

10. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Author

Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen GJ, Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J, Dols-Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W, Berr, Claudine, Bis, Joshua C, Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L, Farrer, Lindsay A, Fernández, Maria Victoria, Fox, Nick C, Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan JP, Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L, Holmes, Clive, Ikram, M Arfan, Ikram, M Kamran, Jansen, Iris E, Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W, Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel MAM, Marshall, Rachel, Martin, Eden R, Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O, Morgan, Kevin, Myers, Richard M, Nacmias, Benedetta, Naj, Adam C, Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A, Raybould, Rachel, Redon, Richard, Reinders, Marcel JT, Richard, Anne-Claire, Riedel-Heller, Steffi G, Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S, Saad, Salha, Sanchez-Juan, Pascual, Schellenberg, Gerard D, Scheltens, Philip, Schott, Jonathan M, Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A, Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo’, Tijms, Betty, Uitterlinden, André G, van der Lee, Sven J, Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimon, Jordi, van Swieten, John C, Greicius, Michael D, Yokoyama, Jennifer S, Cruchaga, Carlos, Hardy, John, and Ramirez, Alfredo

Subjects
Biological Sciences, Genetics, Dementia, Alzheimer's Disease, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Prevention, Acquired Cognitive Impairment, Neurodegenerative, Aging, Clinical Research, Biotechnology, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Adenosine Triphosphatases, Alzheimer Disease, ATP Binding Cassette Transporter 1, Genome-Wide Association Study, Risk Factors, Exosomes, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Alzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants2. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals-16,036 AD cases and 16,522 controls. Next to variants in TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Additionally, the rare-variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential drivers of respective AD-genome-wide association study loci. Variants associated with the strongest effect on AD risk, in particular loss-of-function variants, are enriched in early-onset AD cases. Our results provide additional evidence for a major role for amyloid-β precursor protein processing, amyloid-β aggregation, lipid metabolism and microglial function in AD.

Published
2022

11. Ricochet Progress and Status

Author

Augier, C., Beaulieu, G., Belov, V., Berge, L., Billard, J., Bres, G., Bret, J. -L., Broniatowski, A., Calvo, M., Cazes, A., Chaize, D., Chapellier, M., Chaplinsky, L., Chemin, G., Chen, R., Colas, J., de Jesus, M., de Marcillac, P., Dumoulin, L., Exshaw, O., Ferriol, S., Figueroa-Feliciano, E., Filippini, J. -B., Formaggio, J. A., Fuard, S., Gascon, J., Giuliani, A., Goupy, J., Goy, C., Guerin, C., Hirjibehedin, C. F., Harrington, P., Heine, S. T., Hertel, S. A., Heusch, M., Hoarau, C., Hong, Z., Ianigro, J. -C., Jin, Y., Johnston, J. P., Juillard, A., Kazarcev, S., Lamblin, J., Lattaud, H., Lubashevskiy, A., Mayer, D. W., Marnieros, S., Minet, J., Misiak, D., Monfardini, A., Mounier, F., Olivieri, E., Oriol, C., Patel, P. K., Perbet, E., Pinckney, H. D., Ponomarev, D., Poda, D., Rarbi, F., Real, J. -S., Ricol, J. -S., Redon, T., Robert, A., Rozov, S., Rozova, I., Salagnac, T., Sanglard, V., Schmidt, B., Shevchik, Ye., Sibille, V., Soldner, T., Stachurska, J., Stutz, A., Vagneron, L., van de Pontseele, W., Vezzu, F., Weber, S., Winslow, L., Yakushev, E., and Zinatulina, D.

Published
2023
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13. How local reference panels improve imputation in French populations

Author

Anthony F. Herzig, Lourdes Velo‐Suárez, The FrEx Consortium, The FranceGenRef Consortium, Christian Dina, Richard Redon, Jean-François Deleuze, and Emmanuelle Génin

Subjects
Medicine, Science
Abstract

Abstract Imputation servers offer the exclusive possibility to harness the largest public reference panels which have been shown to deliver very high precision in the imputation of European genomes. Many studies have nonetheless stressed the importance of ‘study specific panels’ (SSPs) as an alternative and have shown the benefits of combining public reference panels with SSPs. But such combined approaches are not attainable when using external imputation servers. To investigate how to confront this challenge, we imputed 550 French individuals using either the University of Michigan imputation server with the Haplotype Reference Consortium (HRC) panel or an in-house SSP of 850 whole-genome sequenced French individuals. With approximate geo-localization of both our target and SSP individuals we are able to pinpoint different scenarios where SSP-based imputation would be preferred over server-based imputation or vice-versa. This is achieved by showing to a high degree of resolution the importance of the proximity of the reference panel to target individuals; with a focus on the clear added value of SSPs for estimating haplotype phase and for the imputation of rare variants (minor allele-frequency below 0.01). Such benefits were most evident for individuals from the same geographical regions in France as the SSP individuals. Overall, only 42.3% of all 125,442 variants evaluated were better imputed with an SSP from France compared to an external reference panel, however this rises to 58.1% for individuals from geographic regions well covered by the SSP. By investigating haplotype sharing and population fine-structure in France, we show the importance of including SSP haplotypes for imputation but also that they should ideally be combined with large public panels. In the absence of the unattainable results from a combined panel of the HRC and our French SSP, we put forward a pragmatic solution where server-based and SSP-based imputation outcomes can be combined based on comparing posterior genotype probabilities. We show that such an approach can give a level of imputation accuracy in excess of what could be achieved with either strategy alone. The results presented provide detailed insights into the accuracy of imputation that should be expected from different strategies for European populations.

Published
2024
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14. Search for 22Na in novae supported by a novel method for measuring femtosecond nuclear lifetimes

Author

Fougères, Chloé, de Oliveira Santos, François, José, Jordi, Michelagnoli, Caterina, Clément, Emmanuel, Kim, Yung Hee, Lemasson, Antoine, Guimarães, Valdir, Barrientos, Diego, Bemmerer, Daniel, Benzoni, Giovanna, Boston, Andrew J., Böttger, Roman, Boulay, Florent, Bracco, Angela, Čeliković, Igor, Cederwall, Bo, Ciemala, Michał, Delafosse, Clément, Domingo-Pardo, César, Dudouet, Jérémie, Eberth, Jürgen, Fülöp, Zsolt, González, Vicente, Gottardo, Andrea, Goupil, Johan, Hess, Herbert, Jungclaus, Andrea, Kaşkaş, Ayşe, Korichi, Amel, Lenzi, Silvia M., Leoni, Silvia, Li, Hongjie, Ljungvall, Joa, Lopez-Martens, Araceli, Menegazzo, Roberto, Mengoni, Daniele, Million, Benedicte, Mrázek, Jaromír, Napoli, Daniel R., Navin, Alahari, Nyberg, Johan, Podolyák, Zsolt, Pullia, Alberto, Quintana, Begoña, Ralet, Damien, Redon, Nadine, Reiter, Peter, Rezynkina, Kseniia, Saillant, Frédéric, Salsac, Marie-Delphine, Sánchez-Benítez, Angel M., Sanchis, Enrique, Şenyiğit, Menekşe, Siciliano, Marco, Smirnova, Nadezda A., Sohler, Dorottya, Stanoiu, Mihai, Theisen, Christophe, Valiente-Dobón, Jose J., Ujić, Predrag, and Zielińska, Magdalena

Published
2023
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17. Enjeux d’hier dans les découpages territoriaux d’aujourd’hui : les Grimaldi de Monaco et le Carladez (Aveyron-Cantal)

Author

Géraud Cullier de Labadie and Marie Redon

Subjects
territorial entity, territorial carving, administrative boundaries, living area, inter-municipal level, tourist destination, Geography (General), G1-922
Abstract

The starting point of this article is Prince Albert II of Monaco's visit to the Carladez district on 14th and 15th May 2014, a district corresponding to the fief fallen to the Grimaldi family's share in 1643 and now straddling Cantal and Aveyron departments and thus the Auvergne and Midi-Pyrénées regions. Through a geo-historical approach, the intention is to understand the meaning of the historic link between the two territories, Monaco and the Carladez, both for the Principality and for the inhabitants of the communes concerned: does the former fief still make sense as a territorial entity despite its having been split up? What makes legitimate a territorial carving when the Republic's internal borders are being questioned (proposal of a territorial reform to redraw the map of regions in June 2014)? A comparison chart showing how marked the differences are between the two areas is followed by an analysis of the construction of the relations between the two territories in the course of their common history. The setting up of the administrative boundaries after the French Revolution leads to question the relativity of the idea of distance over time as well as the continued existence of the fief as a tourist destination. The article aims to show that the symbolic and memorial issues are all the greater in the Carladez because they set apart a territory of the Massif Central and establish it as a destination with an aura of princely prestige. As for the Principality of Monaco, it is emblematic of the spatial logic according to which the exception is worth more than territorial continuity.

Published
2024
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18. Influence of surfactant on conductivity, capacitance and doping of electrodeposited polyaniline films

Author

Aihemaiti Kayishaer, Claire Magnenet, Ileana-Alexandra Pavel, Hamdi Ben Halima, Virginie Moutarlier, Boris Lakard, Nathalie Redon, Caroline Duc, and Sophie Lakard

Subjects
electrodeposition, conducting polymers, polyaniline, surfactant, thin films, Technology
Abstract

The electrodeposition of polyaniline films is usually carried out in acid solutions such as hydrochloric acid, perchloric acid or sulfuric acid, and more rarely in organic acids such as camphorsulfonic acid (CSA). In this study, the impact of the presence of a surfactant in the electrolytic solution based on hydrochloric acid or CSA was evaluated by successively using anionic (sodium dodecyl sulfate, SDS), cationic (cetyltrimethylammonium bromide, CTAB), and non-ionic (Tritonx100) surfactants. Whatever the surfactant and the acid used, the electrochemical oxidation of aniline has successfully led to the formation of a thick polyaniline (PANI) film through a quasi-reversible reaction controlled by the diffusion of aniline monomers. The nature of the surfactant was shown to affect physico-chemical properties of the film, in particular its morphological features (morphology, thickness, roughness), electrochemical activity, specific capacitance, and conductivity. For example, PANI films containing SDS had a spongy morphology when PANI films containing Tritonx100 had a more fibrous and compact structure. Glow Discharge Optical Emission Spectroscopy (GDOES) experiments also highlighted differences depending on the acid used since chloride anions, from HCl, were present only on the top surface of the PANI films when camphorsulfonate anions were present everywhere throughout the polymer film, which impacts the doping process and electrochemical activity of the films. Moreover, the specific capacitance of the PANI/CSA films is higher and more sensitive to current density variation than the one of PANI/HCl films. Finally, electrochemical impedance experiments evidenced that the conductivity of PANI films electrodeposited from CSA solutions was much higher than the one of PANI films prepared from HCl solutions, and highly dependent on the nature of the surfactant, the most conductive films being obtained in the presence of SDS and Tritonx100. Therefore, the originality of this work comes from the possibility of modulating the conductivity, capacitance and electroactivity of electrodeposited polyaniline films using surfactants of different polarity, and from the determination of the distribution of ions in the films using the GDOES technique, which is rarely used to characterise organic films.

Published
2024
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21. Signaling-specific inhibition of the CB1 receptor for cannabis use disorder: phase 1 and phase 2a randomized trials

Author

Haney, Margaret, Vallée, Monique, Fabre, Sandy, Collins Reed, Stephanie, Zanese, Marion, Campistron, Ghislaine, Arout, Caroline A., Foltin, Richard W., Cooper, Ziva D., Kearney-Ramos, Tonisha, Metna, Mathilde, Justinova, Zuzana, Schindler, Charles, Hebert-Chatelain, Etienne, Bellocchio, Luigi, Cathala, Adeline, Bari, Andrea, Serrat, Roman, Finlay, David B., Caraci, Filippo, Redon, Bastien, Martín-García, Elena, Busquets-Garcia, Arnau, Matias, Isabelle, Levin, Frances R., Felpin, François-Xavier, Simon, Nicolas, Cota, Daniela, Spampinato, Umberto, Maldonado, Rafael, Shaham, Yavin, Glass, Michelle, Thomsen, Lars Lykke, Mengel, Helle, Marsicano, Giovanni, Monlezun, Stéphanie, Revest, Jean-Michel, and Piazza, Pier Vincenzo

Published
2023
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23. Search for 22Na in novae supported by a novel method for measuring femtosecond nuclear lifetimes

Author

Chloé Fougères, François de Oliveira Santos, Jordi José, Caterina Michelagnoli, Emmanuel Clément, Yung Hee Kim, Antoine Lemasson, Valdir Guimarães, Diego Barrientos, Daniel Bemmerer, Giovanna Benzoni, Andrew J. Boston, Roman Böttger, Florent Boulay, Angela Bracco, Igor Čeliković, Bo Cederwall, Michał Ciemala, Clément Delafosse, César Domingo-Pardo, Jérémie Dudouet, Jürgen Eberth, Zsolt Fülöp, Vicente González, Andrea Gottardo, Johan Goupil, Herbert Hess, Andrea Jungclaus, Ayşe Kaşkaş, Amel Korichi, Silvia M. Lenzi, Silvia Leoni, Hongjie Li, Joa Ljungvall, Araceli Lopez-Martens, Roberto Menegazzo, Daniele Mengoni, Benedicte Million, Jaromír Mrázek, Daniel R. Napoli, Alahari Navin, Johan Nyberg, Zsolt Podolyák, Alberto Pullia, Begoña Quintana, Damien Ralet, Nadine Redon, Peter Reiter, Kseniia Rezynkina, Frédéric Saillant, Marie-Delphine Salsac, Angel M. Sánchez-Benítez, Enrique Sanchis, Menekşe Şenyiğit, Marco Siciliano, Nadezda A. Smirnova, Dorottya Sohler, Mihai Stanoiu, Christophe Theisen, Jose J. Valiente-Dobón, Predrag Ujić, and Magdalena Zielińska

Subjects
Science
Abstract

Abstract Classical novae are thermonuclear explosions in stellar binary systems, and important sources of 26Al and 22Na. While γ rays from the decay of the former radioisotope have been observed throughout the Galaxy, 22Na remains untraceable. Its half-life (2.6 yr) would allow the observation of its 1.275 MeV γ-ray line from a cosmic source. However, the prediction of such an observation requires good knowledge of its nucleosynthesis. The 22Na(p, γ)23Mg reaction remains the only source of large uncertainty about the amount of 22Na ejected. Its rate is dominated by a single resonance on the short-lived state at 7785.0(7) keV in 23Mg. Here, we propose a combined analysis of particle-particle correlations and velocity-difference profiles to measure femtosecond nuclear lifetimes. The application of this method to the study of the 23Mg states, places strong limits on the amount of 22Na produced in novae and constrains its detectability with future space-borne observatories.

Published
2023
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24. Investigating the Role of Proximal Femoral Morphology in Noncontact ACL Injuries: A Comparative Study

Author

Dijon Musliu, Jeton Shatri, Sadi Bexheti, Ardita Kafexholli, Redon Jashari, Agron Mahmuti, Lavdim Berisha, Ardian Karakushi, and Qerim Kida

Subjects
anterior cruciate ligament, alpha angle, femoroacetabular impingement, Medicine
Abstract

Background: Non-contact anterior cruciate ligament (ACL) injury is a common and debilitating injury among athletes, with high recurrence rates and long-term consequences. Identifying individuals at risk of ACL injury can help prevent or reduce the severity of these injuries. The present study aimed to assess the alpha angle (AA) in ACL rupture patients in both the injured (ipsilateral) and non-affected (contralateral) extremities, compared to a control group. Methods and Results: This case-control study included 105 subjects (78.1% male and 21.9% female) aged between 15 and 45 years of both sexes involved in sports. The case group consisted of 54 patients with sport-related, noncontact ACL ruptures identified by MRI. Fifty-one patients, 10(19.6%) of whom were female, with no ACL rupture, were included in the study as a control group. Hip radiographs were taken in all the subjects using the modified Dunn View with the patient in the supine position, hip flexed 45o and abducted 20o. OsiriX software was used to obtain the measurements. Most injuries were caused by football (58.1%), followed by jumping sports (23.8%) and skiing (18.1%). The mean AA was 49.27 o (SD=4.93) for subjects without ACL rupture and 54.84o (SD=6.17) for subjects with ACL rupture, and the difference was statistically significant (P

Published
2023
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25. RepID represses megakaryocytic differentiation by recruiting CRL4A-JARID1A at DAB2 promoter

Author

Jae-Hyun Jo, Jong-Uk Park, Yeong-Mu Kim, Seon-Mi Ok, Dong-Kyu Kim, Dong-Hyun Jung, Hye-Ji Kim, Hyun-A Seong, Hyo Je Cho, Jihoon Nah, Sangjune Kim, Haiqing Fu, Christophe E. Redon, Mirit I. Aladjem, and Sang-Min Jang

Subjects
Megakaryocytic differentiation, RepID, CRL4A, JARID1A, Medicine, Cytology, QH573-671
Abstract

Abstract Background Megakaryocytes (MKs) are platelet precursors, which arise from hematopoietic stem cells (HSCs). While MK lineage commitment and differentiation are accompanied by changes in gene expression, many factors that modulate megakaryopoiesis remain to be uncovered. Replication initiation determinant protein (RepID) which has multiple histone-code reader including bromodomain, cryptic Tudor domain and WD40 domains and Cullin 4-RING E3 ubiquitin ligase complex (CRL4) recruited to chromatin mediated by RepID have potential roles in gene expression changes via epigenetic regulations. We aimed to investigate whether RepID-CRL4 participates in transcriptional changes required for MK differentiation. Methods The PCR array was performed using cDNAs derived from RepID-proficient or RepID-deficient K562 erythroleukemia cell lines. Correlation between RepID and DAB2 expression was examined in the Cancer Cell Line Encyclopedia (CCLE) through the CellMinerCDB portal. The acceleration of MK differentiation in RepID-deficient K562 cells was determined by estimating cell sizes as well as counting multinucleated cells known as MK phenotypes, and by qRT-PCR analysis to validate transcripts of MK markers using phorbol 12-myristate 13-acetate (PMA)-mediated MK differentiation condition. Interaction between CRL4 and histone methylation modifying enzymes were investigated using BioGRID database, immunoprecipitation and proximity ligation assay. Alterations of expression and chromatin binding affinities of RepID, CRL4 and histone methylation modifying enzymes were investigated using subcellular fractionation followed by immunoblotting. RepID-CRL4-JARID1A-based epigenetic changes on DAB2 promoter were analyzed by chromatin-immunoprecipitation and qPCR analysis. Results RepID-deficient K562 cells highly expressing MK markers showed accelerated MKs differentiation exhibiting increases in cell size, lobulated nuclei together with reaching maximum levels of MK marker expression earlier than RepID-proficient K562 cells. Recovery of WD40 domain-containing RepID constructs in RepID-deficient background repressed DAB2 expression. CRL4A formed complex with histone H3K4 demethylase JARID1A in soluble nucleus and loaded to the DAB2 promoter in a RepID-dependent manner during proliferation condition. RepID, CRL4A, and JARID1A were dissociated from the chromatin during MK differentiation, leading to euchromatinization of the DAB2 promoter. Conclusion This study uncovered a role for the RepID-CRL4A-JARID1A pathway in the regulation of gene expression for MK differentiation, which can form the basis for the new therapeutic approaches to induce platelet production. Video Abstract

Published
2023
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26. Final results on the $0νββ$ decay half-life limit of $^{100}$Mo from the CUPID-Mo experiment

Author

Augier, C, Barabash, AS, Bellini, F, Benato, G, Beretta, M, Bergé, L, Billard, J, Borovlev, Yu A, Cardani, L, Casali, N, Cazes, A, Chapellier, M, Chiesa, D, Dafinei, I, Danevich, FA, Jesus, M De, Marcillac, P de, Dixon, T, Dumoulin, L, Eitel, K, Ferri, F, Fujikawa, BK, Gascon, J, Gironi, L, Giuliani, A, Grigorieva, VD, Gros, M, Helis, DL, Huang, HZ Huang R, Imbert, L, Johnston, J, Juillard, A, Khalife, H, Kleifges, M, Kobychev, VV, Kolomensky, Yu G, Konovalov, SI, Loaiza, P, Ma, L, Makarov, EP, Mariam, R, Marini, L, Marnieros, S, Navick, X-F, Nones, C, Norman, EB, Olivieri, E, Ouellet, JL, Pagnanini, L, Pattavina, L, Paul, B, Pavan, M, Peng, H, Pessina, G, Pirro, S, Poda, DV, Polischuk, OG, Pozzi, S, Previtali, E, Redon, Th, Rojas, A, Rozov, S, Sanglard, V, Scarpaci, JA, Schmidt, B, Shen, Y, Shlegel, VN, Singh, V, Tomei, C, Tretyak, VI, Umatov, VI, Vagneron, L, Velázquez, M, Welliver, B, Winslow, L, Xue, M, Yakushev, E, Zarytskyy, M, and Zolotarova, AS

Subjects
nucl-ex, physics.ins-det
Abstract

The CUPID-Mo experiment to search for 0$u\beta\beta$ decay in $^{100}$Mohas been recently completed after about 1.5 years of operation at LaboratoireSouterrain de Modane (France). It served as a demonstrator for CUPID, a nextgeneration 0$u\beta\beta$ decay experiment. CUPID-Mo was comprised of 20enriched Li$_2$$^{100}$MoO$_4$ scintillating calorimeters, each with a mass of$\sim$ 0.2 kg, operated at $\sim$20 mK. We present here the final analysis withthe full exposure of CUPID-Mo ($^{100}$Mo exposure of 1.47 kg$\times$yr) usedto search for lepton number violation via 0$u\beta\beta$ decay. We report onvarious analysis improvements since the previous result on a subset of data,reprocessing all data with these new techniques. We observe zero events in theregion of interest and set a new limit on the $^{100}$Mo 0$u\beta\beta$ decayhalf-life of $T^{0u}_{1/2} > 1.8 \times 10^{24}$ year (stat.+syst.) at 90%CI. Under the light Majorana neutrino exchange mechanism this corresponds to aneffective Majorana neutrino mass of $\left <(0.28$--$0.49)$ eV, dependent upon the nuclear matrix element utilized.

Published
2022

28. Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults

Author

Phelps, Nowell H, Singleton, Rosie K, Zhou, Bin, Heap, Rachel A, Mishra, Anu, Bennett, James E, Paciorek, Christopher J, Lhoste, Victor PF, Carrillo-Larco, Rodrigo M, Stevens, Gretchen A, Rodriguez-Martinez, Andrea, Bixby, Honor, Bentham, James, Di Cesare, Mariachiara, Danaei, Goodarz, Rayner, Archie W, Barradas-Pires, Ana, Cowan, Melanie J, Savin, Stefan, Riley, Leanne M, Aguilar-Salinas, Carlos A, Baker, Jennifer L, Barkat, Amina, Bhutta, Zulfiqar A, Branca, Francesco, Caixeta, Roberta B, Cuschieri, Sarah, Farzadfar, Farshad, Ganapathy, Shubash, Ikeda, Nayu, Iotova, Violeta, Kengne, Andre P, Khang, Young-Ho, Laxmaiah, Avula, Lin, Hsien-Ho, Ma, Jun, Mbanya, Jean Claude N, Miranda, J Jaime, Pradeepa, Rajendra, Rodríguez-Artalejo, Fernando, Sorić, Maroje, Turley, Maria, Wang, Limin, Webster-Kerr, Karen, Aarestrup, Julie, Abarca-Gómez, Leandra, Abbasi-Kangevari, Mohsen, Abdeen, Ziad A, Abdrakhmanova, Shynar, Abdul Ghaffar, Suhaila, Abdul Rahim, Hanan F, Abdurrahmonova, Zulfiya, Abu-Rmeileh, Niveen M, Abubakar Garba, Jamila, Acosta-Cazares, Benjamin, Adam, Ishag, Adamczyk, Marzena, Adams, Robert J, Adu-Afarwuah, Seth, Aekplakorn, Wichai, Afsana, Kaosar, Afzal, Shoaib, Agbor, Valirie N, Agdeppa, Imelda A, Aghazadeh-Attari, Javad, Ågren, Åsa, Aguenaou, Hassan, Agyemang, Charles, Ahmad, Mohamad Hasnan, Ahmad, Noor Ani, Ahmadi, Ali, Ahmadi, Naser, Ahmadi, Nastaran, Ahmed, Imran, Ahmed, Soheir H, Ahrens, Wolfgang, Aitmurzaeva, Gulmira, Ajlouni, Kamel, Al-Hazzaa, Hazzaa M, Al-Hinai, Halima, Al-Lahou, Badreya, Al-Lawati, Jawad A, Al-Raddadi, Rajaa, Al Asfoor, Deena, Al Hourani, Huda M, Al Qaoud, Nawal M, Alarouj, Monira, AlBuhairan, Fadia, AlDhukair, Shahla, Aldwairji, Maryam A, Alexius, Sylvia, Ali, Mohamed M, Alieva, Anna V, Alkandari, Abdullah, Alkerwi, Ala'a, Alkhatib, Buthaina M, Allin, Kristine, Alomary, Shaker A, Alomirah, Husam F, Alshangiti, Arwa M, Alvarez-Pedrerol, Mar, Aly, Eman, Amarapurkar, Deepak N, Amiano Etxezarreta, Pilar, Amoah, John, Amougou, Norbert, Amouyel, Philippe, Andersen, Lars Bo, Anderssen, Sigmund A, Androutsos, Odysseas, Ängquist, Lars, Anjana, Ranjit Mohan, Ansari-Moghaddam, Alireza, Anufrieva, Elena, Aounallah-Skhiri, Hajer, Araújo, Joana, Ariansen, Inger, Aris, Tahir, Arku, Raphael E, Arlappa, Nimmathota, Aryal, Krishna K, Assefa, Nega, Aspelund, Thor, Assah, Felix K, Assembekov, Batyrbek, Assunção, Maria Cecília F, Aung, May Soe, Aurélio de Valois, Correia Júnior Marco, Auvinen, Juha, Avdičová, Mária, Avi, Shina, Azad, Kishwar, Azevedo, Ana, Azimi-Nezhad, Mohsen, Azizi, Fereidoun, Babu, Bontha V, Bacopoulou, Flora, Bæksgaard Jørgensen, Maja, Baharudin, Azli, Bahijri, Suhad, Bajramovic, Izet, Bakacs, Marta, Balakrishna, Nagalla, Balanova, Yulia, Bamoshmoosh, Mohamed, Banach, Maciej, Banegas, José R, Baran, Joanna, Baran, Rafał, Barbagallo, Carlo M, Barbosa Filho, Valter, Barceló, Alberto, Baretić, Maja, Barnoya, Joaquin, Barrera, Lena, Barreto, Marta, Barros, Aluisio JD, Barros, Mauro Virgílio Gomes, Bartosiewicz, Anna, Basit, Abdul, Bastos, Joao Luiz, Bata, Iqbal, Batieha, Anwar M, Batista, Aline P, Batista, Rosangela L, Battakova, Zhamilya, Baur, Louise A, Bayauli, Pascal M, Beaglehole, Robert, Bel-Serrat, Silvia, Belavendra, Antonisamy, Ben Romdhane, Habiba, Benedek, Theodora, Benedics, Judith, Benet, Mikhail, Benitez Rolandi, Gilda Estela, Benzeval, Michaela, Bere, Elling, Berger, Nicolas, Bergh, Ingunn Holden, Berhane, Yemane, Berkinbayev, Salim, Bernabe-Ortiz, Antonio, Bernotiene, Gailute, Berrios Carrasola, Ximena, Bettiol, Heloísa, Beutel, Manfred E, Beybey, Augustin F, Bezerra, Jorge, Bhagyalaxmi, Aroor, Bharadwaj, Sumit, Bhargava, Santosh K, Bi, Hongsheng, Bi, Yufang, Bia, Daniel, Biasch, Katia, Bika Lele, Elysée Claude, Bikbov, Mukharram M, Bista, Bihungum, Bjelica, Dusko J, Bjerregaard, Anne A, Bjerregaard, Peter, Bjertness, Espen, Bjertness, Marius B, Björkelund, Cecilia, Bloch, Katia V, Blokstra, Anneke, Blychfeld Magnazu, Moran, Bo, Simona, Bobak, Martin, Boddy, Lynne M, Boehm, Bernhard O, Boer, Jolanda MA, Boggia, Jose G, Bogova, Elena, Boissonnet, Carlos P, Bojesen, Stig E, Bonaccio, Marialaura, Bongard, Vanina, Bonilla-Vargas, Alice, Bopp, Matthias, Borghs, Herman, Botomba, Steve, Bourne, Rupert RA, Bovet, Pascal, Boymatova, Khadichamo, Braeckevelt, Lien, Braeckman, Lutgart, Bragt, Marjolijn CE, Braithwaite, Tasanee, Brajkovich, Imperia, Breckenkamp, Juergen, Breda, João, Brenner, Hermann, Brewster, Lizzy M, Brian, Garry R, Briceño, Yajaira, Brinduse, Lacramioara, Bringolf-Isler, Bettina, Brito, Miguel, Brophy, Sinead, Brug, Johannes, Bruno, Graziella, Bugge, Anna, Buoncristiano, Marta, Burazeri, Genc, Burns, Con, Cabrera de León, Antonio, Cacciottolo, Joseph, Cai, Hui, Cama, Tilema, Cameron, Christine, Camolas, José, Can, Günay, Cândido, Ana Paula c, Cañete, Felicia, Capanzana, Mario V, Čapková, Naděžda, Capuano, Eduardo, Capuano, Rocco, Capuano, Vincenzo, Cardol, Marloes, Cardoso, Viviane C, Carlsson, Axel C, Carmuega, Esteban, Carvalho, Joana, Casajús, José A, Casanueva, Felipe F, Casas, Maribel, Celikcan, Ertugrul, Censi, Laura, Cervantes-Loaiza, Marvin, Cesar, Juraci A, Chamnan, Parinya, Chamukuttan, Snehalatha, Chan, Angelique, Chan, Queenie, Charchar, Fadi J, Charles, Marie-Aline, Chaturvedi, Himanshu K, Chaturvedi, Nish, Che Abdul Rahim, Norsyamlina, Chee, Miao Li, Chen, Chien-Jen, Chen, Fangfang, Chen, Huashuai, Chen, Long-Sheng, Chen, Shuohua, Chen, Zhengming, Cheng, Ching-Yu, Cheng, Yiling J, Cheraghian, Bahman, Chetrit, Angela, Chikova-Iscener, Ekaterina, Chinapaw, Mai JM, Chinnock, Anne, Chiolero, Arnaud, Chiou, Shu-Ti, Chirita-Emandi, Adela, Chirlaque, María-Dolores, Cho, Belong, Christensen, Kaare, Christofaro, Diego G, Chudek, Jerzy, Cifkova, Renata, Cilia, Michelle, Cinteza, Eliza, Cirillo, Massimo, Claessens, Frank, Clare, Philip, Clarke, Janine, Clays, Els, Cohen, Emmanuel, Cojocaru, Cosmin R, Colorado-Yohar, Sandra, Compañ-Gabucio, Laura-María, Concin, Hans, Confortin, Susana C, Cooper, Cyrus, Coppinger, Tara C, Corpeleijn, Eva, Cortés, Lilia Yadira, Costanzo, Simona, Cottel, Dominique, Cowell, Chris, Craig, Cora L, Crampin, Amelia C, Cross, Amanda J, Crujeiras, Ana B, Cruz, Juan J, Csányi, Tamás, Csilla, Semánová, Cucu, Alexandra M, Cui, Liufu, Cureau, Felipe V, Czenczek-Lewandowska, Ewelina, D'Arrigo, Graziella, d'Orsi, Eleonora, da Silva, Alanna G, Dacica, Liliana, Dahm, Christina C, Dallongeville, Jean, Damasceno, Albertino, Damsgaard, Camilla T, Dankner, Rachel, Dantoft, Thomas M, Dasgupta, Parasmani, Dastgiri, Saeed, Dauchet, Luc, Davletov, Kairat, de Assis Guedes de Vasconcelos, Francisco, de Assis, Maria Alice Altenburg, De Backer, Guy, De Bacquer, Dirk, De Bacquer, Jaco, de Bont, Jeroen, De Curtis, Amalia, de Fragas Hinnig, Patrícia, de Gaetano, Giovanni, De Henauw, Stefaan, De Miguel-Etayo, Pilar, De Neve, Jan-Walter, Duarte de Oliveira, Paula, De Ridder, David, De Ridder, Karin, de Rooij, Susanne R, de Sá, Ana Carolina MGN, De Smedt, Delphine, Deepa, Mohan, Deev, Alexander D, DeGennaro, Vincent Jr, Delisle, Hélène, Delpeuch, Francis, Demarest, Stefaan, Dennison, Elaine, Dereń, Katarzyna, Deschamps, Valérie, Devrishov, Ruslan D, Dhimal, Meghnath, Di Castelnuovo, Augusto, Dias-da-Costa, Juvenal Soares, Díaz-Sánchez, María Elena, Diaz, Alejandro, Díaz Fernández, Pedro, Díez Ripollés, María Pilar, Dika, Zivka, Djalalinia, Shirin, Djordjic, Visnja, Do, Ha TP, Dobson, Annette J, Dominguez, Liria, Donati, Maria Benedetta, Donfrancesco, Chiara, Dong, Guanghui, Dong, Yanhui, Donoso, Silvana P, Döring, Angela, Dorobantu, Maria, Dorosty, Ahmad Reza, Dörr, Marcus, Doua, Kouamelan, Dragano, Nico, Drygas, Wojciech, Du, Shufa, Duan, Jia Li, Duante, Charmaine A, Duboz, Priscilla, Duleva, Vesselka L, Dulskiene, Virginija, Dumith, Samuel C, Dushpanova, Anar, Dwyer, Terence, Dyussupova, Azhar, Dzerve, Vilnis, Dziankowska-Zaborszczyk, Elzbieta, Ebrahimi, Narges, Echeverría, Guadalupe, Eddie, Ricky, Eftekhar, Ebrahim, Efthymiou, Vasiliki, Egbagbe, Eruke E, 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Rezaianzadeh, Abbas, Rho, Yeunsook, Ribas-Barba, Lourdes, Ribeiro, Robespierre, Riboli, Elio, Rigo, Fernando, Rigotti, Attilio, Rinaldo, Natascia, Rinke de Wit, Tobias F, Risérus, Ulf, Rito, Ana I, Ritti-Dias, Raphael M, Rivera, Juan A, Roa, Reina G, Robinson, Louise, Roccaldo, Romana, Rodrigues, Daniela, Rodriguez-Perez, María del Cristo, Rodríguez-Villamizar, Laura A, Rodríguez, Andrea Y, Roggenbuck, Ulla, Rohloff, Peter, Rohner, Fabian, Rojas-Martinez, Rosalba, Rojroongwasinkul, Nipa, Romaguera, Dora, Romeo, Elisabetta L, Rosario, Rafaela V, Rosengren, Annika, Rouse, Ian, Rouzier, Vanessa, Roy, Joel GR, Ruano, Maira H, Rubinstein, Adolfo, Rühli, Frank J, Ruidavets, Jean-Bernard, Ruiz-Betancourt, Blanca Sandra, Ruiz-Castell, Maria, Ruiz Moreno, Emma, Rusakova, Iuliia A, Rusek, Wojciech, Russell Jonsson, Kenisha, Russo, Paola, Rust, Petra, Rutkowski, Marcin, Saamel, Marge, Saar, Crizian G, Sabanayagam, Charumathi, Sabbaghi, Hamideh, Sacchini, Elena, Sachdev, Harshpal S, Sadjadi, Alireza, Safarpour, Ali Reza, Safi, Sare, Safiri, Saeid, Saghi, Mohammad Hossien, Saidi, Olfa, Saieva, Calogero, Sakata, Satoko, Saki, Nader, Šalaj, Sanja, Salanave, Benoit, Salazar Martinez, Eduardo, Salhanova, Akkumis, Salmerón, Diego, Salomaa, Veikko, Salonen, Jukka T, Salvetti, Massimo, Samoutian, Margarita, Sánchez-Abanto, Jose, Sánchez Rodríguez, Inés, Sandjaja, Sans, Susana, Santa-Marina, Loreto, Santacruz, Ethel, Santos, Diana A, Santos, Ina S, Santos, Lèlita C, Santos, Maria Paula, Santos, Osvaldo, Santos, Rute, Santos, Tamara R, Saramies, Jouko L, Sardinha, Luis B, Sarrafzadegan, Nizal, Sathish, Thirunavukkarasu, Saum, Kai-Uwe, Savva, Savvas, Savy, Mathilde, Sawada, Norie, Sbaraini, Mariana, Scazufca, Marcia, Schaan, Beatriz D, Schaffrath Rosario, Angelika, Schargrodsky, Herman, Schienkiewitz, Anja, Schindler, Karin, Schipf, Sabine, Schmidt, Börge, Schmidt, Carsten O, Schmidt, Ida Maria, Schneider, Andrea, Schnohr, Peter, Schöttker, Ben, Schramm, Sara, Schramm, Stine, Schröder, Helmut, Schultsz, Constance, Schultz, Gry, Schulze, Matthias B, Schutte, Aletta E, Sebert, Sylvain, Sedaghattalab, Moslem, Selamat, Rusidah, Sember, Vedrana, Sen, Abhijit, Senbanjo, Idowu O, Sepanlou, Sadaf G, Sequera, Guillermo, Serra-Majem, Luis, Servais, Jennifer, Ševčíková, Ľudmila, Sewpaul, Ronel, Shalnova, Svetlana, Shamah-Levy, Teresa, Shamshirgaran, Seyed Morteza, Shanthirani, Coimbatore Subramaniam, Sharafkhah, Maryam, Sharma, Sanjib K, Sharman, Almaz, Shaw, Jonathan E, Shayanrad, Amaneh, Shayesteh, Ali Akbar, Shengelia, Lela, Shi, Zumin, Shibuya, Kenji, Shimizu-Furusawa, Hana, Shimony, Tal, Shiri, Rahman, Shrestha, Namuna, Si-Ramlee, Khairil, Siani, Alfonso, Siantar, Rosalynn, Sibai, Abla M, Sidossis, Labros S, Silitrari, Natalia, Silva, Antonio M, Silva, Caroline Ramos de Moura, Silva, Diego Augusto Santos, Silva, Kelly Samara, Sim, Xueling, Simon, Mary, Simons, Judith, Simons, Leon A, Sjöberg, Agneta, Sjöström, Michael, Skoblina, Elena V, Skoblina, Natalia A, Slazhnyova, Tatyana, Slowikowska-Hilczer, Jolanta, Slusarczyk, Przemysław, Smeeth, Liam, So, Hung-Kwan, Soares, Fernanda Cunha, Sobek, Grzegorz, Sobngwi, Eugène, Sodemann, Morten, Söderberg, Stefan, Soekatri, Moesijanti YE, Soemantri, Agustinus, Sofat, Reecha, Solfrizzi, Vincenzo, Solovieva, Yuliya V, Somi, Mohammad Hossein, Sonestedt, Emily, Song, Yi, Soofi, Sajid, Sørensen, Thorkild IA, Sørgjerd, Elin P, Sossa Jérome, Charles, Soto-Rojas, Victoria E, Soumaré, Aïcha, Sousa-Poza, Alfonso, Sovic, Slavica, Sparboe-Nilsen, Bente, Sparrenberger, Karen, Spencer, Phoebe R, Spinelli, Angela, Spiroski, Igor, Staessen, Jan A, Stamm, Hanspeter, Stang, Andreas, Starc, Gregor, Staub, Kaspar, Stavreski, Bill, Steene-Johannessen, Jostein, Stehle, Peter, Stein, Aryeh D, Steinsbekk, Silje, Stergiou, George S, Stessman, Jochanan, Stevanović, Ranko, Stieber, Jutta, Stöckl, Doris, Stokwiszewski, Jakub, Stoyanova, Ekaterina, Stratton, Gareth, Stronks, Karien, Strufaldi, Maria Wany, Sturua, Lela, Suárez-Medina, Ramón, Suarez-Ortegón, Milton F, Suebsamran, Phalakorn, Sugiyama, Mindy, Suka, Machi, Sulo, Gerhard, Sun, Chien-An, Sun, Liang, Sund, Malin, Sundström, Johan, Sung, Yn-Tz, Sunyer, Jordi, Suriyawongpaisal, Paibul, Sweis, Nabil William G, Swinburn, Boyd A, Sy, Rody G, Sylva, René Charles, Szponar, Lucjan, Tabone, Lorraine, Tai, E Shyong, Takuro, Furusawa, Tambalis, Konstantinos D, Tammesoo, Mari-Liis, Tamosiunas, Abdonas, Tan, Eng Joo, Tang, Xun, Tanrygulyyeva, Maya, Tanser, Frank, Tao, Yong, Tarawneh, Mohammed Rasoul, Tarp, Jakob, Tarqui-Mamani, Carolina B, Taxová Braunerová, Radka, Taylor, Anne, Taylor, Julie, Tchibindat, Félicité, Te Velde, Saskia, Tebar, William R, Tell, Grethe S, Tello, Tania, Tessema, Masresha, Tham, Yih Chung, Thankappan, KR, Theobald, Holger, Theodoridis, Xenophon, Thomas, Nihal, Thorand, Barbara, Thrift, Amanda G, Tichá, Ľubica, Timmermans, Erik J, Tjandrarini, Dwi Hapsari, Tjonneland, Anne, Tolonen, Hanna K, Tolstrup, Janne S, Tomaszewski, Maciej, Topbas, Murat, Topór-Mądry, Roman, Torheim, Liv Elin, Tornaritis, Michael J, Torrent, Maties, Torres-Collado, Laura, Toselli, Stefania, Touloumi, Giota, Traissac, Pierre, Tran, Thi Tuyet-Hanh, Tremblay, Mark S, Triantafyllou, Areti, Trichopoulos, Dimitrios, Trichopoulou, Antonia, Trinh, Oanh TH, Trivedi, Atul, Tshepo, Lechaba, Tsigga, Maria, Tsintavis, Panagiotis, Tsugane, Shoichiro, Tuitele, John, Tuliakova, Azaliia M, Tulloch-Reid, Marshall K, Tullu, Fikru, Tuomainen, Tomi-Pekka, Tuomilehto, Jaakko, Twig, Gilad, Tynelius, Per, Tzala, Evangelia, Tzotzas, Themistoklis, Tzourio, Christophe, Udoji, Nwannedimma, Ueda, Peter, Ugel, Eunice, Ukoli, Flora AM, Ulmer, Hanno, Unal, Belgin, Usupova, Zhamyila, Uusitalo, Hannu MT, Uysal, Nalan, Vaitkeviciute, Justina, Valdivia, Gonzalo, Vale, Susana, Valvi, Damaskini, van Dam, Rob M, van den Born, Bert-Jan, Van der Heyden, Johan, van der Schouw, Yvonne T, Van Herck, Koen, Van Lippevelde, Wendy, Van Minh, Hoang, Van Schoor, Natasja M, van Valkengoed, Irene GM, Vanderschueren, Dirk, Vanuzzo, Diego, Varbo, Anette, Varela-Moreiras, Gregorio, Vargas, Luz Nayibe, Varona-Pérez, Patricia, Vasan, Senthil K, Vasques, Daniel G, Vatasescu, Radu, Vega, Tomas, Veidebaum, Toomas, Velasquez-Melendez, Gustavo, Velika, Biruta, Verloigne, Maïté, Veronesi, Giovanni, Verschuren, WM Monique, Victora, Cesar G, Viegi, Giovanni, Viet, Lucie, Vik, Frøydis N, Vilar, Monica, Villalpando, Salvador, Vioque, Jesus, Viriyautsahakul, Napaphan, Virtanen, Jyrki K, Visser, Marjolein, Visvikis-Siest, Sophie, Viswanathan, Bharathi, Vladulescu, Mihaela, Vlasoff, Tiina, Vocanec, Dorja, Vollenweider, Peter, Völzke, Henry, Vourli, Georgia, Voutilainen, Ari, Vrijheid, Martine, Vrijkotte, Tanja GM, Vuletić, Silvije, Wade, Alisha N, Waldhör, Thomas, Walton, Janette, Wambiya, Elvis OA, Wan Bebakar, Wan Mohamad, Wan Mohamud, Wan Nazaimoon, Wanderley Júnior, Rildo de Souza, Wang, Chongjian, Wang, Huijun, Wang, Ming-Dong, Wang, Ningli, Wang, Qian, Wang, Xiangjun, Wang, Ya Xing, Wang, Ying-Wei, Wannamethee, S Goya, Wareham, Nicholas, Wartha, Olivia, Weber, Adelheid, Wedderkopp, Niels, Weghuber, Daniel, Wei, Wenbin, Weres, Aneta, Werner, Bo, Westbury, Leo D, Whincup, Peter H, Wichstrøm, Lars, Wickramasinghe, Kremlin, Widhalm, Kurt, Widyahening, Indah S, Więcek, Andrzej, Wild, Philipp S, Wilks, Rainford J, Willeit, Johann, Willeit, Peter, Williams, Julianne, Wilsgaard, Tom, Wirth, James P, Wojtyniak, Bogdan, Woldeyohannes, Meseret, Wolf, Kathrin, Wong-McClure, Roy A, Wong, Andrew, Wong, Emily B, Wong, Jyh Eiin, Wong, Tien Yin, Woo, Jean, Woodward, Mark, Wu, Frederick C, Wu, Hon-Yen, Wu, Jianfeng, Wu, Li Juan, Wu, Shouling, Wyszyńska, Justyna, Xu, Haiquan, Xu, Liang, Yaacob, Nor Azwany, Yamborisut, Uruwan, Yan, Li, Yan, Weili, Yang, Ling, Yang, Xiaoguang, Yang, Yang, Yardim, Nazan, Yasuharu, Tabara, Yépez García, Martha, Yiallouros, Panayiotis K, Yngve, Agneta, Yoosefi, Moein, Yoshihara, Akihiro, Yotov, Yoto, You, Qi Sheng, You, San-Lin, Younger-Coleman, Novie O, Yu, Yu-Ling, Yu, Yunjiang, Yusof, Safiah Md, Yusoff, Ahmad Faudzi, Zaccagni, Luciana, Zafiropulos, Vassilis, Zainuddin, Ahmad A, Zakavi, Seyed Rasoul, Zamani, Farhad, Zambon, Sabina, Zampelas, Antonis, Zamrazilová, Hana, Zapata, Maria Elisa, Zargar, Abdul Hamid, Zaw, Ko Ko, Zayed, Ayman A, Zdrojewski, Tomasz, Żegleń, Magdalena, Zejglicova, Kristyna, Zeljkovic Vrkic, Tajana, Zeng, Yi, Zentai, Andrea, Zhang, Bing, Zhang, Luxia, Zhang, Zhen-Yu, Zhao, Dong, Zhao, Ming-Hui, Zhao, Wenhua, Zhecheva, Yanitsa V, Zhen, Shiqi, Zheng, Wei, Zheng, Yingfeng, Zholdin, Bekbolat, Zhou, Maigeng, Zhu, Dan, Zimmet, Paul, Zins, Marie, Zitt, Emanuel, Zocalo, Yanina, Zoghlami, Nada, Zuñiga Cisneros, Julio, Zuziak, Monika, and Ezzati, Majid

Published
2024
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31. Final results on the 0νββ decay half-life limit of 100Mo from the CUPID-Mo experiment

Author

Augier, C, Barabash, AS, Bellini, F, Benato, G, Beretta, M, Bergé, L, Billard, J, Borovlev, Yu A, Cardani, L, Casali, N, Cazes, A, Chapellier, M, Chiesa, D, Dafinei, I, Danevich, FA, De Jesus, M, de Marcillac, P, Dixon, T, Dumoulin, L, Eitel, K, Ferri, F, Fujikawa, BK, Gascon, J, Gironi, L, Giuliani, A, Grigorieva, VD, Gros, M, Helis, DL, Huang, HZ, Huang, R, Imbert, L, Johnston, J, Juillard, A, Khalife, H, Kleifges, M, Kobychev, VV, Kolomensky, Yu G, Konovalov, SI, Loaiza, P, Ma, L, Makarov, EP, Mariam, R, Marini, L, Marnieros, S, Navick, X-F, Nones, C, Norman, EB, Olivieri, E, Ouellet, JL, Pagnanini, L, Pattavina, L, Paul, B, Pavan, M, Peng, H, Pessina, G, Pirro, S, Poda, DV, Polischuk, OG, Pozzi, S, Previtali, E, Redon, Th, Rojas, A, Rozov, S, Sanglard, V, Scarpaci, JA, Schmidt, B, Shen, Y, Shlegel, VN, Singh, V, Tomei, C, Tretyak, VI, Umatov, VI, Vagneron, L, Velázquez, M, Welliver, B, Winslow, L, Xue, M, Yakushev, E, Zarytskyy, M, and Zolotarova, AS

Subjects
Nuclear and Plasma Physics, Particle and High Energy Physics, Physical Sciences, Affordable and Clean Energy, Atomic, Molecular, Nuclear, Particle and Plasma Physics, Quantum Physics, Nuclear & Particles Physics, Astronomical sciences, Atomic, molecular and optical physics, Particle and high energy physics
Abstract

The CUPID-Mo experiment to search for 0νββ decay in 100Mo has been recently completed after about 1.5 years of operation at Laboratoire Souterrain de Modane (France). It served as a demonstrator for CUPID, a next generation 0νββ decay experiment. CUPID-Mo was comprised of 20 enriched Li 2100MoO 4 scintillating calorimeters, each with a mass of ∼ 0.2 kg, operated at ∼ 20 mK. We present here the final analysis with the full exposure of CUPID-Mo (100Mo exposure of 1.47 kg × year) used to search for lepton number violation via 0νββ decay. We report on various analysis improvements since the previous result on a subset of data, reprocessing all data with these new techniques. We observe zero events in the region of interest and set a new limit on the 100Mo 0νββ decay half-life of T1/20ν> 1.8 × 10 24 year (stat. + syst.) at 90% CI. Under the light Majorana neutrino exchange mechanism this corresponds to an effective Majorana neutrino mass of 〈 mββ〉

Published
2022

33. 4-(5-Benzyl-3-((4-fluorophenyl)sulfonyl)-5-methyl-4,5-dihydrofuran-2-yl)-2-nitrobenzamide

Author

Oscar Leonardo Avendaño Leon, Christophe Curti, Hussein El-Kashef, Youssef Kabri, Sébastien Redon, and Patrice Vanelle

Subjects
amidoxime, amide, 4,5-dihydrofuran, nitro group, leishmania, Inorganic chemistry, QD146-197
Abstract

As part of our ongoing attempt to broaden the applications of the amidoxime moiety as a potential source of new antileishmanial agents, this study focuses on the product 4-(5-Benzyl-3-((4-fluorophenyl)sulfonyl)-5-methyl-4,5-dihydrofuran-2-yl)-2-nitrobenzamide. This unexpected amide was obtained in an 85% yield as the major product with a conventional amidoxime synthesis protocol (Ethanol/Na2CO3) involving the reaction of hydroxylamine and a nitrile group. The formation of this amide derivative instead of the expected amidoxime can be attributed to two complementary effects: the strong electron effect of the nitro group and the influence of ethanol, a polar protic solvent. Alternatively, the desired amidoxime derivative, 4-(5-benzyl-3-((4-fluorophenyl)sulfonyl)-5-methyl-4,5-dihydrofuran-2-yl)-N′-hydroxy-2-nitrobenzimidamide, was obtained in an 80% yield by an alternative protocol (DMSO/KOtBu). This original compound, featuring a nitro group in the ortho position to the amidoxime, will be further evaluated, both in the field of medicinal chemistry and in other relevant areas, highlighting an unusual method to access amidoximes from hindered substrates.

Published
2023
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34. Protection against oxygen in the vinification of the red grape Nerello Mascalese affects volatile organic compounds profile

Author

Isabella Taglieri, Lorenzo Landi, Claudio D'Onofrio, Fabrizio Onofrio Fiorino, Gabriele Figoli, Cecile Thibon, Pascaline Redon, Chiara Sanmartin, Philippe Darriet, Andrea Bellincontro, and Fabio Mencarelli

Subjects
winemaking, Nerello mascalese, VOCs, Thiols, Terpenes, C13-norisoprenoids, Agriculture, Botany, QK1-989
Abstract

We hypothesised that the protection against oxygen (PAO) of must and wine during vinification by avoiding contact with air can preserve the primary volatile organic compounds (VOCs) of Nerello Mascalese. PAO was performed in two seasons (2020 and 2021) using carbon dioxide pellets (CO2,s) and gas (CO2,g), inactivated yeasts and ascorbic acid during fermentation; the control wine was made via traditional vinification without adding the aforementioned components. During fermentation, the two winemaking processes mainly differed in terms of the application of aeration during maceration/fermentation in the pump-over and délestage activities, and the care taken to avoid contact with oxygen during racking. In both years, higher concentrations of polyphenols and total anthocyanins were found in the PAO wine (about 16 % and 20 % respectively). The concentrations of nerol, citronellol and geraniol were significantly higher in the PAO wine in both seasons, albeit with small differences which affected the sensory evaluation. The free/bound terpenes ratio was 0.35 (PAO) and 0.55 (Control). Bound C13-norisoprenoids contents were higher than the free ones; in the PAO wine, free 3-oxo-α-ionol and bound vomifoliol concentrations were slightly higher than in the control wine. Thiols were measured in Nerello for the first time. In 2020 in particular, sulfanylhexan-1-ol was present in larger amounts in the PAO wine. Applying PAO in the production of Nerello Mascalese modified certain VOCs, as well as the overall free/bound ratio due to the increase in bound VOCs, thus influencing the aroma of the wine.

Published
2023
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35. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Author

Padhi, Evin M, Hayeck, Tristan J, Cheng, Zhang, Chatterjee, Sumantra, Mannion, Brandon J, Byrska-Bishop, Marta, Willems, Marjolaine, Pinson, Lucile, Redon, Sylvia, Benech, Caroline, Uguen, Kevin, Audebert-Bellanger, Séverine, Le Marechal, Cédric, Férec, Claude, Efthymiou, Stephanie, Rahman, Fatima, Maqbool, Shazia, Maroofian, Reza, Houlden, Henry, Musunuri, Rajeeva, Narzisi, Giuseppe, Abhyankar, Avinash, Hunter, Riana D, Akiyama, Jennifer, Fries, Lauren E, Ng, Jeffrey K, Mehinovic, Elvisa, Stong, Nick, Allen, Andrew S, Dickel, Diane E, Bernier, Raphael A, Gorkin, David U, Pennacchio, Len A, Zody, Michael C, and Turner, Tychele N

Subjects
Biological Sciences, Genetics, Mental Health, Human Genome, Intellectual and Developmental Disabilities (IDD), Autism, Pediatric, Neurosciences, Clinical Research, Brain Disorders, 1.1 Normal biological development and functioning, Underpinning research, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Autistic Disorder, Enhancer Elements, Genetic, Exome, Female, Gene Regulatory Networks, Genetic Predisposition to Disease, Humans, Male, Muscle Hypotonia, Mutation, Neurodevelopmental Disorders, Neurons, Transcription Factors, Neurodevelopmental disorder, Enhancer, Gene regulatory network, EBF3, hs737, Genome, Variant, De novo, Genetics & Heredity, Biochemistry and cell biology
Abstract

BackgroundPrevious research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation has been observable as a general increase in genetic burden but has yet to be resolved to individual functional elements. In this study, we assessed whole-genome sequencing data in 2671 families with autism (discovery cohort of 516 families, replication cohort of 2155 families). We focused on DNVs in enhancers with characterized in vivo activity in the brain and identified an excess of DNVs in an enhancer named hs737.ResultsWe adapted the fitDNM statistical model to work in noncoding regions and tested enhancers for excess of DNVs in families with autism. We found only one enhancer (hs737) with nominal significance in the discovery (p = 0.0172), replication (p = 2.5 × 10-3), and combined dataset (p = 1.1 × 10-4). Each individual with a DNV in hs737 had shared phenotypes including being male, intact cognitive function, and hypotonia or motor delay. Our in vitro assessment of the DNVs showed they all reduce enhancer activity in a neuronal cell line. By epigenomic analyses, we found that hs737 is brain-specific and targets the transcription factor gene EBF3 in human fetal brain. EBF3 is genome-wide significant for coding DNVs in NDDs (missense p = 8.12 × 10-35, loss-of-function p = 2.26 × 10-13) and is widely expressed in the body. Through characterization of promoters bound by EBF3 in neuronal cells, we saw enrichment for binding to NDD genes (p = 7.43 × 10-6, OR = 1.87) involved in gene regulation. Individuals with coding DNVs have greater phenotypic severity (hypotonia, ataxia, and delayed development syndrome [HADDS]) in comparison to individuals with noncoding DNVs that have autism and hypotonia.ConclusionsIn this study, we identify DNVs in the hs737 enhancer in individuals with autism. Through multiple approaches, we find hs737 targets the gene EBF3 that is genome-wide significant in NDDs. By assessment of noncoding variation and the genes they affect, we are beginning to understand their impact on gene regulatory networks in NDDs.

Published
2021

36. The background model of the CUPID-Mo $$0\nu \beta \beta $$ 0 ν β β experiment

Author

C. Augier, A. S. Barabash, F. Bellini, G. Benato, M. Beretta, L. Bergé, J. Billard, Yu. A. Borovlev, L. Cardani, N. Casali, A. Cazes, E. Celi, M. Chapellier, D. Chiesa, I. Dafinei, F. A. Danevich, M. De Jesus, P. de Marcillac, T. Dixon, L. Dumoulin, K. Eitel, F. Ferri, B. K. Fujikawa, J. Gascon, L. Gironi, A. Giuliani, V. D. Grigorieva, M. Gros, D. L. Helis, H. Z. Huang, R. Huang, L. Imbert, J. Johnston, A. Juillard, H. Khalife, M. Kleifges, V. V. Kobychev, Yu. G. Kolomensky, S. I. Konovalov, J. Kotila, P. Loaiza, L. Ma, E. P. Makarov, R. Mariam, L. Marini, S. Marnieros, X.-F. Navick, C. Nones, E. B. Norman, E. Olivieri, J. L. Ouellet, L. Pagnanini, L. Pattavina, B. Paul, M. Pavan, H. Peng, G. Pessina, S. Pirro, D. V. Poda, O. G. Polischuk, S. Pozzi, E. Previtali, Th. Redon, A. Rojas, S. Rozov, V. Sanglard, J. A. Scarpaci, B. Schmidt, Y. Shen, V. N. Shlegel, V. Singh, C. Tomei, V. I. Tretyak, V. I. Umatov, L. Vagneron, M. Velázquez, B. Welliver, L. Winslow, M. Xue, E. Yakushev, M. Zarytskyy, and A. S. Zolotarova

Subjects
Astrophysics, QB460-466, Nuclear and particle physics. Atomic energy. Radioactivity, QC770-798
Abstract

Abstract CUPID-Mo, located in the Laboratoire Souterrain de Modane (France), was a demonstrator for the next generation $$0\nu \beta \beta $$ 0 ν β β decay experiment, CUPID. It consisted of an array of 20 enriched Li $$_{2}$$ 2 $$^{100}$$ 100 MoO $$_4$$ 4 bolometers and 20 Ge light detectors and has demonstrated that the technology of scintillating bolometers with particle identification capabilities is mature. Furthermore, CUPID-Mo can inform and validate the background prediction for CUPID. In this paper, we present a detailed model of the CUPID-Mo backgrounds. This model is able to describe well the features of the experimental data and enables studies of the $$2\nu \beta \beta $$ 2 ν β β decay and other processes with high precision. We also measure the radio-purity of the Li $$_{2}$$ 2 $$^{100}$$ 100 MoO $$_4$$ 4 crystals which are found to be sufficient for the CUPID goals. Finally, we also obtain a background index in the region of interest of 3.7 $$^{+0.9}_{-0.8}$$ - 0.8 + 0.9 (stat) $$^{+1.5}_{-0.7}$$ - 0.7 + 1.5 (syst) $$\times ~10 ^{-3}$$ × 10 - 3 counts/ $$\Delta E_{\text {FWHM}}/\text {mol}_{\text {iso}}/\text {year},$$ Δ E FWHM / mol iso / year , the lowest in a bolometric $$0\nu \beta \beta $$ 0 ν β β decay experiment.

Published
2023
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37. Assessment of the interactions between soil–biosphere–atmosphere (ISBA) land surface model soil hydrology, using four closed-form soil water relationships and several lysimeters

Author

A. Sobaga, B. Decharme, F. Habets, C. Delire, N. Enjelvin, P.-O. Redon, P. Faure-Catteloin, and P. Le Moigne

Subjects
Technology, Environmental technology. Sanitary engineering, TD1-1066, Geography. Anthropology. Recreation, Environmental sciences, GE1-350
Abstract

Soil water drainage is the main source of groundwater recharge and river flow. It is therefore a key process for water resource management. In this study, we evaluate the soil hydrology and the soil water drainage, simulated by the interactions between soil–biosphere–atmosphere (ISBA) land surface model currently used for hydrological applications from the watershed scale to the global scale, where parameters are generally not calibrated. This evaluation is done using seven lysimeters from two long-term model approach sites measuring hourly water dynamics between 2009 and 2019 in northeastern France. These 2 m depth lysimeters are filled with different soil types and are either maintained as bare soil or covered with vegetation. Four closed-form equations describing soil water retention and hydraulic conductivity functions are tested, namely the commonly used equations from Brooks and Corey (1966) and van Genuchten (1980), a combination of the van Genuchten (1980) soil water retention function with the Brooks and Corey (1966) unsaturated hydraulic conductivity function, and, for the very first time in a land surface model (LSM), a modified version of the van Genuchten (1980) equations, with a new hydraulic conductivity curve proposed by Iden et al. (2015). The results indicate good performance by ISBA with the different closure equations in terms of soil volumetric water content and water mass. The drained flow at the bottom of the lysimeter is well simulated, using Brooks and Corey (1966), while some weaknesses appear with van Genuchten (1980) due to the abrupt shape near the saturation of its hydraulic conductivity function. The mixed form or the new van Genuchten (1980) hydraulic conductivity function from Iden et al. (2015) allows the solving of this problem and even improves the simulation of the drainage dynamic, especially for intense drainage events. The study also highlights the importance of the vertical heterogeneity of the soil hydrodynamic parameters to correctly simulate the drainage dynamic, in addition to the primary influence of the parameters characterizing the shape of the soil water retention function.

Published
2023
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38. Pituitary Adenoma Presenting with True Bitemporal Hemianopsia: A Case Report

Author

Afrim Shabani, Flamur Mushica, Besim Latifaj, Jeton Shatri, Ardita Kafexholli, Dijon Musliu, Art Deva, Redon Jashari, and Premtim Rashiti

Subjects
pituitary adenoma, sellar mass, bitemporal hemianopsia, Medicine
Abstract

Pituitary adenomas grow from the anterior pituitary gland and can cause compression of surrounding structures, including the optic chiasm, leading to visual field defects such as bitemporal hemianopia, visual acuity or color perception reduction. In this case report, we present the case of a 45-year-old male patient who presented with long-lasting headaches and visual disturbances, including diplopia and a decline in visual acuity. Despite being initially diagnosed with migraine by a neurologist, a thorough ophthalmological examination revealed visual field defects consistent with true bitemporal hemianopsia. MRI results confirmed the presence of sellar mass, and the patient was referred to the neurosurgery department for immediate intervention. The patient underwent surgical removal of the mass, which was identified as a pituitary adenoma upon histological examination. Three months later, the patient experienced significant improvements in subjective and objective visual acuity, with no diplopia or scotomas in the visual field. In conclusion, this case report highlights the importance of considering pituitary adenoma as a potential cause of visual disturbances, even in the absence of bitemporal hemianopsia. Thorough ophthalmological examination, including visual field testing, can aid in the early detection of chiasmal involvement and prompt referral for further investigation. Early intervention, including surgical removal of the tumor, can prevent other complications and significantly improve visual acuity and overall quality of life for patients.

Published
2023
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39. Enhanced light signal for the suppression of pile-up events in Mo-based bolometers for the 0 $$\nu \beta \beta $$ ν β β decay search.

Author

A. Ahmine, A. Armatol, I. Bandac, L. Bergé, J. M. Calvo-Mozota, P. Carniti, M. Chapellier, T. Dixon, L. Dumoulin, A. Giuliani, Ph. Gras, F. Ferri, L. Imbert, H. Khalife, P. Loaiza, P. de Marcillac, S. Marnieros, C. A. Marrache-Kikuchi, C. Nones, E. Olivieri, A. Ortiz de Solórzano, G. Pessina, D. V. Poda, Th. Redon, J. A. Scarpaci, M. Velázquez, and A. Zolotarova

Subjects
Astrophysics, QB460-466, Nuclear and particle physics. Atomic energy. Radioactivity, QC770-798
Abstract

Abstract Random coincidences of events could be one of the main sources of background in the search for neutrino-less double-beta decay of $$^{100}$$ 100 Mo with macro-bolometers, due to their modest time resolution. Scintillating bolometers as those based on Li $$_2$$ 2 MoO $$_4$$ 4 crystals and employed in the CROSS and CUPID experiments can eventually exploit the coincident fast signal detected in a light detector to reduce this background. However, the scintillation provides a modest signal-to-noise ratio, making difficult a pile-up pulse-shape recognition and rejection at timescales shorter than a few ms. Neganov–Trofimov–Luke assisted light detectors (NTL-LDs) offer the possibility to effectively increase the signal-to-noise ratio, preserving a fast time-response, and enhance the capability of pile-up rejection via pulse shape analysis. In this article we present: (a) an experimental work performed with a Li $$_2$$ 2 MoO $$_4$$ 4 scintillating bolometer, studied in the framework of the CROSS experiment, and utilizing a NTL-LD; (b) a simulation method to reproduce, synthetically, randomly coincident two-neutrino double-beta decay events; (c) a new analysis method based on a pulse-shape discrimination algorithm capable of providing high pile-up rejection efficiencies. We finally show how the NTL-LDs offer a balanced solution between performance and complexity to reach background index $$\sim $$ ∼ $$10^{-4}$$ 10 - 4 counts/keV/kg/year with 280 g Li $$_2$$ 2 MoO $$_4$$ 4 ( $$^{100}$$ 100 Mo enriched) bolometers at 3034 keV, the Q $$_{\beta \beta }$$ β β of the double-beta decay, and target the goal of a next generation experiment like CUPID.

Published
2023
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43. BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and single-stranded gap formation after DNA damage.

Author

Kang, Zhihua, Fu, Pan, Alcivar, Allen L, Fu, Haiqing, Redon, Christophe, Foo, Tzeh Keong, Zuo, Yamei, Ye, Caiyong, Baxley, Ryan, Madireddy, Advaitha, Buisson, Remi, Bielinsky, Anja-Katrin, Zou, Lee, Shen, Zhiyuan, Aladjem, Mirit I, and Xia, Bing

Subjects
BRCA2 Protein, Cell Line, Tumor, Cell Survival, DNA Damage, DNA Helicases, DNA Primase, DNA Replication, DNA, Neoplasm, DNA, Single-Stranded, DNA-Binding Proteins, DNA-Directed DNA Polymerase, Gene Expression Regulation, Neoplastic, Genomic Instability, HEK293 Cells, HeLa Cells, Humans, Minichromosome Maintenance Proteins, Multifunctional Enzymes, Osteoblasts, RNA, Small Interfering, Recombinational DNA Repair, Signal Transduction, Transcription Factors, Breast Cancer, Genetics, Cancer, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning
Abstract

The BRCA2 tumor suppressor protects genome integrity by promoting homologous recombination-based repair of DNA breaks, stability of stalled DNA replication forks and DNA damage-induced cell cycle checkpoints. BRCA2 deficient cells display the radio-resistant DNA synthesis (RDS) phenotype, however the mechanism has remained elusive. Here we show that cells without BRCA2 are unable to sufficiently restrain DNA replication fork progression after DNA damage, and the underrestrained fork progression is due primarily to Primase-Polymerase (PRIMPOL)-mediated repriming of DNA synthesis downstream of lesions, leaving behind single-stranded DNA gaps. Moreover, we find that BRCA2 associates with the essential DNA replication factor MCM10 and this association suppresses PRIMPOL-mediated repriming and ssDNA gap formation, while having no impact on the stability of stalled replication forks. Our findings establish an important function for BRCA2, provide insights into replication fork control during the DNA damage response, and may have implications in tumor suppression and therapy response.

Published
2021

46. Results from a prototype TES detector for the Ricochet experiment

Author

Augier, C., Baulieu, G., Belov, V., Bergé, L., Billard, J., Bres, G., Bret, J-.L., Broniatowski, A., Calvo, M., Cazes, A., Chaize, D., Chala, M., Chang, C.L., Chapellier, M., Chaplinsky, L., Chemin, G., Chen, R., Colas, J., Cudmore, E., De Jesus, M., de Marcillac, P., Dumoulin, L., Exshaw, O., Ferriol, S., Figueroa-Feliciano, E., Filippini, J.-B., Formaggio, J.A., Fuard, S., Gannon, K., Gascon, J., Giuliani, A., Goupy, J., Goy, C., Guerin, C., Guy, E., Harrington, P., Hertel, S.A., Heusch, M., Hong, Z., Ianigro, J.-C., Jin, Y., Juillard, A., Karaivanov, D., Kazarcev, S., Lamblin, J., Lattaud, H., Li, M., Lisovenko, M., Lubashevskiy, A., Marnieros, S., Martini, N., Mayer, D.W., Minet, J., Monfardini, A., Mounier, F., Novati, V., Olivieri, E., Oriol, C., Ovalle Mateo, L., Palladino, K.J., Patel, P.K., Perbet, E., Pinckney, H.D., Poda, D.V., Ponomarev, D., Rarbi, F., Real, J.-S., Redon, T., Reyes, F.C., Ricol, J.-S., Robert, A., Rozov, S., Rozova, I., Salagnac, T., Schmidt, B., Scorza, S., Shevchik, Ye., Soldner, T., Stachurska, J., Stutz, A., Vagneron, L., Van De Pontseele, W., Veihmeyer, C., Vezzu, F., Wang, G., Winslow, L., Yakushev, E., Yefremenko, V.G., Zhang, J., and Zinatulina, D.

Published
2023
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48. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

Author

Mah-Som, Annelise Y., Daw, Jil, Huynh, Diana, Wu, Mengcheng, Creekmore, Benjamin C., Burns, William, Skinner, Steven A., Holla, Øystein L., Smeland, Marie F., Planes, Marc, Uguen, Kevin, Redon, Sylvia, Bierhals, Tatjana, Scholz, Tasja, Denecke, Jonas, Mensah, Martin A., Sczakiel, Henrike L., Tichy, Heidelis, Verheyen, Sarah, Blatterer, Jasmin, Schreiner, Elisabeth, Thies, Jenny, Lam, Christina, Spaeth, Christine G., Pena, Loren, Ramsey, Keri, Narayanan, Vinodh, Seaver, Laurie H., Rodriguez, Diana, Afenjar, Alexandra, Burglen, Lydie, Lee, Edward B., Chou, Tsui-Fen, Weihl, Conrad C., and Shinawi, Marwan S.

Published
2023
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50. Cardiovascular risk of metabolically healthy obesity in two european populations: Prevention potential from a metabolomic study

Author

Dongmei Wei, Vannina González-Marrachelli, Jesus D Melgarejo, Chia-Te Liao, Angie Hu, Stefan Janssens, Peter Verhamme, Lucas Van Aelst, Thomas Vanassche, Josep Redon, Maria Tellez-Plaza, Juan C Martin-Escudero, Daniel Monleon, and Zhen-Yu Zhang

Subjects
Cardiovascular risk, Diabetes, Obesity, Metabolically healthy obesity, Metabolomics, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Background A new definition of metabolically healthy obesity (MHO) has recently been proposed to stratify the heterogeneous mortality risk of obesity. Metabolomic profiling provides clues to metabolic alterations beyond clinical definition. We aimed to evaluate the association between MHO and cardiovascular events and assess its metabolomic pattern. Methods This prospective study included Europeans from two population-based studies, the FLEMENGHO and the Hortega study. A total of 2339 participants with follow-up were analyzed, including 2218 with metabolomic profiling. Metabolic health was developed from the third National Health and Nutrition Examination Survey and the UK biobank cohorts and defined as systolic blood pressure

Published
2023
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