Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Emmanuel Vaillant"'
Autor:
Sarah Meulebrouck, Judith Merrheim, Gurvan Queniat, Cyril Bourouh, Mehdi Derhourhi, Mathilde Boissel, Xiaoyan Yi, Alaa Badreddine, Raphaël Boutry, Audrey Leloire, Bénédicte Toussaint, Souhila Amanzougarene, Emmanuel Vaillant, Emmanuelle Durand, Hélène Loiselle, Marlène Huyvaert, Aurélie Dechaume, Victoria Scherrer, Piero Marchetti, Beverley Balkau, Guillaume Charpentier, Sylvia Franc, Michel Marre, Ronan Roussel, Raphaël Scharfmann, Miriam Cnop, Mickaël Canouil, Morgane Baron, Philippe Froguel, Amélie Bonnefond
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract Functional genetics has identified drug targets for metabolic disorders. Opioid use impacts metabolic homeostasis, although mechanisms remain elusive. Here, we explore the OPRD1 gene (encoding delta opioid receptor, DOP) to understand its im
Externí odkaz:
https://doaj.org/article/78b374b3ff9b43728d9fb6ee8aab174e
Autor:
Arnaud Dance, Justine Fernandes, Bénédicte Toussaint, Emmanuel Vaillant, Raphaël Boutry, Morgane Baron, Hélène Loiselle, Beverley Balkau, Guillaume Charpentier, Sylvia Franc, Mark Ibberson, Michel Marre, Marie Gernay, Marjorie Fadeur, Nicolas Paquot, Martine Vaxillaire, Mathilde Boissel, Souhila Amanzougarene, Mehdi Derhourhi, Amna Khamis, Philippe Froguel, Amélie Bonnefond
Publikováno v:
Molecular Metabolism, Vol 79, Iss , Pp 101867- (2024)
Objective: Human functional genomics has proven powerful in discovering drug targets for common metabolic disorders. Through this approach, we investigated the involvement of the purinergic receptor P2RY1 in type 2 diabetes (T2D). Methods: P2RY1 was
Externí odkaz:
https://doaj.org/article/f86705b80e164285981d1a94e006f43d
Autor:
Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify
Externí odkaz:
https://doaj.org/article/dd5da5cd92584eff962e351fadeb6a4e
Autor:
Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
Publikováno v:
Molecular Metabolism, Vol 13, Iss , Pp 1-9 (2018)
Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exo
Externí odkaz:
https://doaj.org/article/31587e1c7e5942a9a6d20496894a49c3
Autor:
Vikash Chandra, Olivier Albagli-Curiel, Benoit Hastoy, Julie Piccand, Clotilde Randriamampita, Emmanuel Vaillant, Hélène Cavé, Kanetee Busiah, Philippe Froguel, Martine Vaxillaire, Patrik Rorsman, Michel Polak, Raphael Scharfmann
Publikováno v:
Cell Reports, Vol 9, Iss 6, Pp 2206-2218 (2014)
Development and function of pancreatic β cells involve the regulated activity of specific transcription factors. RFX6 is a transcription factor essential for mouse β cell differentiation that is mutated in monogenic forms of neonatal diabetes. Howe
Externí odkaz:
https://doaj.org/article/2fdf65cdd70d45a48f5c01bc542aa44a
Autor:
Sara Frade-Proud’Hon-Clerc, Thomas Smol, Frédéric Frenois, Olivier Sand, Emmanuel Vaillant, Véronique Dhennin, Amélie Bonnefond, Philippe Froguel, Mathurin Fumery, Nathalie Guillon-Dellac, Corinne Gower-Rousseau, Francis Vasseur
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 4, p 835 (2019)
The NOD2 gene, involved in innate immune responses to bacterial peptidoglycan, has been found to be closely associated with Crohn’s Disease (CD), with an Odds Ratio ranging from 3⁻36. Families with three or more CD-affected members were related t
Externí odkaz:
https://doaj.org/article/a0a5be2a2cf3461b9400af1318608dc0
Autor:
Julien Philippe, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Aurélie Dechaume, Iandry Rabearivelo, Véronique Dhennin, Martine Vaxillaire, Franck De Graeve, Olivier Sand, Philippe Froguel, Amélie Bonnefond
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0143373 (2015)
Molecular diagnosis of monogenic diabetes and obesity is of paramount importance for both the patient and society, as it can result in personalized medicine associated with a better life and it eventually saves health care spending. Genetic clinical
Externí odkaz:
https://doaj.org/article/2b0b009e644741e28638de85dfe3711c
Autor:
Marie Boutant, Oscar Henrique Pereira Ramos, Cécile Lecoeur, Emmanuel Vaillant, Julien Philippe, Pili Zhang, Anaïs Perilhou, Beatriz Valcarcel, Sylvain Sebert, Mario-Ritta Jarvelin, Beverley Balkau, Donald Scott, Philippe Froguel, Martine Vaxillaire, Mireille Vasseur-Cognet
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e35810 (2012)
The Nuclear Receptor 2F2 (NR2F2/COUP-TFII) heterozygous knockout mice display low basal insulinemia and enhanced insulin sensitivity. We previously established that insulin represses NR2F2 gene expression in pancreatic β-cells. The cis-regulatory re
Externí odkaz:
https://doaj.org/article/bdc908c6a0ef46f38c8b8cd7b37a064f
Autor:
Lise Folon, Morgane Baron, Bénédicte Toussaint, Emmanuel Vaillant, Mathilde Boissel, Victoria Scherrer, Hélène Loiselle, Audrey Leloire, Alaa Badreddine, Beverley Balkau, Guillaume Charpentier, Sylvia Franc, Michel Marre, Soulaimane Aboulouard, Michel Salzet, Mickaël Canouil, Mehdi Derhourhi, Philippe Froguel, Amélie Bonnefond
Publikováno v:
The Lancet Diabetes & Endocrinology. 11:182-190
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ff1e642d1cfc1f42df82ce93969d4eb
https://doi.org/10.1016/s2213-8587(22)00392-8
https://doi.org/10.1016/s2213-8587(22)00392-8
Autor:
Sadia Saeed, Lijiao Ning, Alaa Badreddine, Muhammad Usman Mirza, Mathilde Boissel, Roohia Khanam, Jaida Manzoor, Qasim M Janjua, Waqas I. Khan, Bénédicte Toussaint, Emmanuel Vaillant, Souhila Amanzougarene, Mehdi Derhourhi, John F Trant, Anna-Maria Siegert, Brian Y. H. Lam, Giles S.H. Yeo, Layachi Chabraoui, Asmae Touzani, Abhishek Kulkarni, I. Sadaf Farooqi, Amélie Bonnefond, Muhammad Arslan, Philippe Froguel
Publikováno v:
Diabetes.
We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carried pathogenic variants in known monogenic obesity genes. Here, we have discovered a novel monogenetic recessive form of severe childhood obes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af9660c24c88e25870fda43b98904f4a
https://doi.org/10.2337/db22-1017
https://doi.org/10.2337/db22-1017