Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Jean‐François Deleuze"'
Autor:
Vincent Jonchère, Hugo Montémont, Enora Le Scanf, Aurélie Siret, Quentin Letourneur, Emmanuel Tubacher, Christophe Battail, Assane Fall, Karim Labreche, Victor Renault, Toky Ratovomanana, Olivier Buhard, Ariane Jolly, Philippe Le Rouzic, Cody Feys, Emmanuelle Despras, Habib Zouali, Rémy Nicolle, Pascale Cervera, Magali Svrcek, Pierre Bourgoin, Hélène Blanché, Anne Boland, Jérémie Lefèvre, Yann Parc, Mehdi Touat, Franck Bielle, Danielle Arzur, Gwennina Cueff, Catherine Le Jossic-Corcos, Gaël Quéré, Gwendal Dujardin, Marc Blondel, Cédric Le Maréchal, Romain Cohen, Thierry André, Florence Coulet, Pierre de la Grange, Aurélien de Reyniès, Jean-François Fléjou, Florence Renaud, Agusti Alentorn, Laurent Corcos, Jean-François Deleuze, Ada Collura, Alex Duval
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-26 (2024)
Abstract Background Microsatellite instability (MSI) due to mismatch repair deficiency (dMMR) is common in colorectal cancer (CRC). These cancers are associated with somatic coding events, but the noncoding pathophysiological impact of this genomic i
Externí odkaz:
https://doaj.org/article/87efc7be65b6480c8bf4509103a6aab4
Autor:
Isabel Alves, Joanna Giemza, Michael G. B. Blum, Carolina Bernhardsson, Stéphanie Chatel, Matilde Karakachoff, Aude Saint Pierre, Anthony F. Herzig, Robert Olaso, Martial Monteil, Véronique Gallien, Elodie Cabot, Emma Svensson, Delphine Bacq, Estelle Baron, Charlotte Berthelier, Céline Besse, Hélène Blanché, Ozvan Bocher, Anne Boland, Stéphanie Bonnaud, Eric Charpentier, Claire Dandine-Roulland, Claude Férec, Christine Fruchet, Simon Lecointe, Edith Le Floch, Thomas E. Ludwig, Gaëlle Marenne, Vincent Meyer, Elisabeth Quellery, Fernando Racimo, Karen Rouault, Florian Sandron, Jean-Jacques Schott, Lourdes Velo-Suarez, Jade Violleau, Eske Willerslev, Yves Coativy, Mael Jézéquel, Daniel Le Bris, Clément Nicolas, Yvan Pailler, Marcel Goldberg, Marie Zins, Hervé Le Marec, Mattias Jakobsson, Pierre Darlu, Emmanuelle Génin, Jean-François Deleuze, Richard Redon, Christian Dina
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract The demographical history of France remains largely understudied despite its central role toward understanding modern population structure across Western Europe. Here, by exploring publicly available Europe-wide genotype datasets together wi
Externí odkaz:
https://doaj.org/article/2cfe22713c9047a98436743628f16f58
Autor:
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical m
Externí odkaz:
https://doaj.org/article/2ecd19f0cda141cfa0923df68ca7b619
Autor:
Mathilde André, Nicolas Brucato, Georgi Hudjasov, Vasili Pankratov, Danat Yermakovich, Francesco Montinaro, Rita Kreevan, Jason Kariwiga, John Muke, Anne Boland, Jean-François Deleuze, Vincent Meyer, Nicholas Evans, Murray P. Cox, Matthew Leavesley, Michael Dannemann, Tõnis Org, Mait Metspalu, Mayukh Mondal, François-Xavier Ricaut
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Highlanders and lowlanders of Papua New Guinea have faced distinct environmental stress, such as hypoxia and environment-specific pathogen exposure, respectively. In this study, we explored the top genomics regions and the candidate driver S
Externí odkaz:
https://doaj.org/article/d5c9f645930e48fb9ecbef2fff72864e
Autor:
Benjamin Glemain, Xavier de Lamballerie, Marie Zins, Gianluca Severi, Mathilde Touvier, Jean-François Deleuze, SAPRIS-SERO study group, Nathanaël Lapidus, Fabrice Carrat
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract The individual results of SARS-CoV-2 serological tests measured after the first pandemic wave of 2020 cannot be directly interpreted as a probability of having been infected. Plus, these results are usually returned as a binary or ternary va
Externí odkaz:
https://doaj.org/article/47bfca899a434bb0b52001d0eec3932c
Autor:
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, Julien Barc
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
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 disea
Externí odkaz:
https://doaj.org/article/973ce46b9b9a4d84b5710238b42950a4
Autor:
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian
Externí odkaz:
https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661
Autor:
Marie Pouquet, Dorine Decarreaux, Laura Di Domenico, Chiara E. Sabbatini, Pol Prévot-Monsacre, Toscane Fourié, Paola Mariela Saba Villarroel, Stephane Priet, Hélène Blanché, Jean-Marc Sebaoun, Jean-François Deleuze, Clément Turbelin, Louise Rossignol, Andréas Werner, Fabienne Kochert, Brigitte Grosgogeat, Pascaline Rabiega, Julien Laupie, Nathalie Abraham, Harold Noël, Sylvie van der Werf, Vittoria Colizza, Fabrice Carrat, Remi Charrel, Xavier de Lamballerie, Thierry Blanchon, Alessandra Falchi
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Data on the SARS-CoV-2 infection among primary health care workers (PHCWs) are scarce but essential to reflect on policy regarding prevention and control measures. We assessed the prevalence of PHCWs who have been infected by SARS-CoV-2 in c
Externí odkaz:
https://doaj.org/article/0a4450228efb4701a48df8bfd7c15a4c
Autor:
Marcus C.B. Tan, Chelsea A. Isom, Yangzi Liu, David-Alexandre Trégouët, Lang Wu, Dan Zhou, Eric R. Gamazon, Sara Lindstrom, Lu Wang, Erin Smith, William Gordon, Astrid Van Hylckama Vlieg, Mariza De Andrade, Jennifer Brody, Jack Pattee, Jeffrey Haessler, Ben Brumpton, Daniel Chasman, Pierre Suchon, Ming-Huei Chen, Constance Turman, Marine Germain, Kerri Wiggins, James MacDonald, Sigrid Braekkan, Sebastian Armasu, Nathan Pankratz, Rabecca Jackson, Jonas Nielsen, Franco Giulianini, Marja Puurunen, Manal Ibrahim, Susan Heckbert, Theo Bammler, Kelly Frazer, Bryan McCauley, Kent Taylor, James Pankow, Alexander Reiner, Maiken Gabrielsen, Jean-François Deleuze, Chris O'Donnell, Jihye Kim, Barbara McKnight, Peter Kraft, John-Bjarne Hansen, Frits Rosendaal, John Heit, Bruce Psaty, Weihong Tang, Charles Kooperberg, Kristian Hveem, Paul Ridker, Pierre-Emmanuel Morange, Andrew Johnson, Christopher Kabrhel, Nicholas Smith
Publikováno v:
EBioMedicine, Vol 106, Iss , Pp 105233- (2024)
Summary: Background: Two important questions regarding the genetics of pancreatic adenocarcinoma (PDAC) are 1. Which germline genetic variants influence the incidence of this cancer; and 2. Whether PDAC causally predisposes to associated non-malignan
Externí odkaz:
https://doaj.org/article/3420f9e9c9f34b658ac5d3b0471a4072
Autor:
Anthony F. Herzig, Lourdes Velo‐Suárez, The FrEx Consortium, The FranceGenRef Consortium, Christian Dina, Richard Redon, Jean-François Deleuze, Emmanuelle Génin
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
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 importan
Externí odkaz:
https://doaj.org/article/accec295e7354bb3b126f58d7cdcf248