Zobrazeno 1 - 10
of 8 250
pro vyhledávání: '"[ SDV.GEN ] Life Sciences [q-bio]/Genetics"'
Publikováno v:
Trends in Genetics
Trends in Genetics, 2022, ⟨10.1016/j.tig.2022.10.002⟩
Trends in Genetics, 2022, ⟨10.1016/j.tig.2022.10.002⟩
International audience; Although the impact of telomeres on physiology stands well established, a question remains: how do telomeres impact cellular functions at a molecular level? This is because current understanding limits the influence of telomer
Autor:
Soilly, Al, Robert-Viard, C, Besse, C, Bruel, Al, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, Ml, Deleuze, Jf, Binquet, C, Thauvin-Robinet, C, Lejeune, C, Arpin, S, Blanchet, P, Blesson, S, Boute-Benejean, O, Busa, T, Colin, E, Coubes, C, Devillard, F, Edery, P, El Chehadeh, S, Fradin, M, Goldenberg, A, Guerrot, A-M, Herenger, Y, Houcinat, N, Jean-Marcais, N, Jouk, P., Lambert, L, Lavillaureix, A, Legendre, M, Leheup, B, Manouvrier, S, Mercier, S, Moutton, S, Nizon, M, Pasquier, L, Petit, F, Pinson, L, Poirsier, C, Pons, L, Putoux, A, Quelin, C, Renaud, M, Rossi, M, Sorlin, A, Spodenkiewicz, M, Thevenon, J, Toutain, A, Van-Gils, J, Vanlerberghe, C, Verloes, A, Vincent, M, Vincent-Delorme, C, Willems, M, Ziegler, A
Publikováno v:
BMC Health Services Research
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
Background: With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c32699af80841f12baa0810b47fab1ea
https://univ-rennes.hal.science/hal-04164227
https://univ-rennes.hal.science/hal-04164227
Autor:
Rebecca Smith, Siham Zentout, Magdalena Rother, Nicolas Bigot, Catherine Chapuis, Alexandra Mihuț, Florian Franz Zobel, Ivan Ahel, Haico van Attikum, Gyula Timinszky, Sébastien Huet
Publikováno v:
Nature Structural and Molecular Biology
Nature Structural and Molecular Biology, 2023, ⟨10.1038/s41594-023-00977-x⟩
Nature Structural and Molecular Biology, 2023, ⟨10.1038/s41594-023-00977-x⟩
International audience; Poly(ADP-ribose) polymerase 1 (PARP1) activity is regulated by its co-factor histone poly(ADP-ribosylation) factor 1 (HPF1). The complex formed by HPF1 and PARP1 catalyzes ADP-ribosylation of serine residues of proteins near D
Autor:
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
Publikováno v:
Journal of medical genetics
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
BackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants inGRIN1orGRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this stu
Autor:
Sofie Marijke Braet, Agathe Jouet, Alexandra Aubry, Magalie Van Dyck-Lippens, Esteban Lenoir, Younoussa Assoumani, Abdallah Baco, Aboubacar Mzembaba, Emmanuelle Cambau, Sidra Ezidio Gonçalves Vasconcellos, Leen Rigouts, Philip Noel Suffys, Epco Hasker, Philip Supply, Bouke Catherine de Jong
Publikováno v:
The Lancet Microbe
The Lancet Microbe, 2022, 3 (9), pp.e693-e700. ⟨10.1016/S2666-5247(22)00117-3⟩
Lancet microbe
The Lancet Microbe, 2022, 3 (9), pp.e693-e700. ⟨10.1016/S2666-5247(22)00117-3⟩
Lancet microbe
Despite strong leprosy control measures, including effective treatment, leprosy persists in the Comoros. As of May, 2022, no resistance to anti-leprosy drugs had been reported, but there are no nationally representative data. Post-exposure prophylaxi
Autor:
Erin M. Parry, Ignaty Leshchiner, Romain Guièze, Connor Johnson, Eugen Tausch, Sameer A. Parikh, Camilla Lemvigh, Julien Broséus, Sébastien Hergalant, Conor Messer, Filippo Utro, Chaya Levovitz, Kahn Rhrissorrakrai, Liang Li, Daniel Rosebrock, Shanye Yin, Stephanie Deng, Kara Slowik, Raquel Jacobs, Teddy Huang, Shuqiang Li, Geoff Fell, Robert Redd, Ziao Lin, Binyamin A. Knisbacher, Dimitri Livitz, Christof Schneider, Neil Ruthen, Liudmila Elagina, Amaro Taylor-Weiner, Bria Persaud, Aina Martinez, Stacey M. Fernandes, Noelia Purroy, Annabelle J. Anandappa, Jialin Ma, Julian Hess, Laura Z. Rassenti, Thomas J. Kipps, Nitin Jain, William Wierda, Florence Cymbalista, Pierre Feugier, Neil E. Kay, Kenneth J. Livak, Brian P. Danysh, Chip Stewart, Donna Neuberg, Matthew S. Davids, Jennifer R. Brown, Laxmi Parida, Stephan Stilgenbauer, Gad Getz, Catherine J. Wu
Publikováno v:
Nature Medicine
Nature Medicine, 2023, 29 (1), pp.158-169. ⟨10.1038/s41591-022-02113-6⟩
Nature Medicine, 2023, 29 (1), pp.158-169. ⟨10.1038/s41591-022-02113-6⟩
International audience
Autor:
Anne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, Lisa G. Riley, Maud Bidet, Linda Akloul, Andrea Simpson, David Gilot, John Christodoulou, Célia Ravel, Andrew H. Sinclair, Marc-Antoine Belaud-Rotureau, Elena J. Tucker, Sylvie Jaillard
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2023, 31 (4), pp.453-460. ⟨10.1038/s41431-022-01252-1⟩
European Journal of Human Genetics, 2023, 31 (4), pp.453-460. ⟨10.1038/s41431-022-01252-1⟩
International audience; Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these explaining only a minority of cases. Whole exome se
Autor:
Rachel Fourneaux, Rachel Reynaud, Gregory Mougel, Sarah Castets, Patricia Bretones, Benjamin Dauriat, Thomas Edouard, Gerald Raverot, Anne Barlier, Thierry Brue, Frederic Castinetti, Alexandru Saveanu
Publikováno v:
European Journal of Endocrinology
European Journal of Endocrinology, 2022, 187 (6), pp.787-795. ⟨10.1530/EJE-22-0520⟩
European Journal of Endocrinology, 2022, 187 (6), pp.787-795. ⟨10.1530/EJE-22-0520⟩
Design Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may be isolated, secondary to abnormalities of genes involved in TSH biosynthesis, or associated with other pituitary deficits or abnormalities of genes involved in pituitary
Publikováno v:
Archives de Pédiatrie
Archives de Pédiatrie, 2022, 29 (8), pp.599-603. ⟨10.1016/j.arcped.2022.08.005⟩
Archives de Pédiatrie, 2022, 29 (8), pp.599-603. ⟨10.1016/j.arcped.2022.08.005⟩
Background: There are currently three known congenital disaccharidase deficiencies: congenital lactase deficiency (CLD), congenital sucrase-isomaltase deficiency (CSD), and congenital trehalase deficiency (CTD). No congenital deficiency has been desc
Autor:
Hager Jaouadi, Chris Jopling, Fanny Bajolle, Alexis Théron, Adèle Faucherre, Hilla Gerard, Sarab Al Dybiat, Caroline Ovaert, Damien Bonnet, Jean-François Avierinos, Stéphane Zaffran
Publikováno v:
Journal of Translational Medicine
Journal of Translational Medicine, 2023, 21 (1), pp.160. ⟨10.1186/s12967-023-03994-y⟩
Journal of Translational Medicine, 2023, 21 (1), pp.160. ⟨10.1186/s12967-023-03994-y⟩
Background Recent studies have shown the implication of the ROBO-SLIT pathway in heart development. Within this study, we aimed to further assess the implication of the ROBO and SLIT genes mainly in bicuspid aortic valve (BAV) and other human congeni