CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

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

Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.

Autor: Stéphane Cauchi, David Meyre, Emmanuelle Durand, Christine Proença, Michel Marre, Samy Hadjadj, Hélène Choquet, Franck De Graeve, Stefan Gaget, Frederic Allegaert, Jérôme Delplanque, Marshall Alan Permutt, Jon Wasson, Ilana Blech, Guillaume Charpentier, Beverley Balkau, Anne-Claire Vergnaud, Sébastien Czernichow, Wolfgang Patsch, Mohamed Chikri, Benjamin Glaser, Robert Sladek, Philippe Froguel

Publikováno v: PLoS ONE, Vol 3, Iss 5, p e2031 (2008)

Recently, several Genome Wide Association (GWA) studies in populations of European descent have identified and validated novel single nucleotide polymorphisms (SNPs), highly associated with type 2 diabetes (T2D). Our aims were to validate these marke

Externí odkaz: https://doaj.org/article/4e7c6b6f070f4a8cadb0fec1a1e23371

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan

Autor: Emmanuel Vaillant, Taeed A. Butt, Philippe Froguel, Sadia M. Din, Mehdi Derhourhi, Emmanuelle Durand, Hina Ayesha, Souhila Amanzougarene, Laraib Inam, Qasim M. Janjua, Muhammad Arslan, Qura-tul Ain, Stéphane Lobbens, Alaa Badreddine, Stefan Gaget, Jaida Manzoor, Amélie Bonnefond, Waqas I. Khan, Sadia Saeed, Lionel Berberian

Publikováno v: Diabetes. 69:1424-1438

Monogenic forms of obesity have been identified in ≤10% of severely obese European patients. However, the overall spectrum of deleterious variants (point mutations and structural variants) responsible for childhood severe obesity remains elusive. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f268c1be90afddd68606594b9e08543f
https://doi.org/10.2337/db19-1238

Contribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications

Autor: Hamza Asif, Vincent Vatin, Marjolein Snippe, Arjuna Maharaj, Philippe Froguel, Edward J. Andress, Stefan Gaget, Kenneth J. Linton, Hélène Choquet, Tanmay Sharma, David Meyre, Philippe Besnard

Publikováno v: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)

We sequenced coding regions of the cluster of differentiation 36 (CD36) gene in 184 French individuals of European ancestry presenting simultaneously with type 2 diabetes (T2D), arterial hypertension, dyslipidemia, and coronary heart disease. We iden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acfe146ba0762f72dbcf558263b36755
https://doi.org/10.1038/s41598-019-53388-8

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes

Autor: Mark I. McCarthy, Torben Hansen, Anna L. Gloyn, Katharine R. Owen, Iwar Klimes, Helge Ræder, Oluf Pedersen, Daniela Gasperikova, Maciej T. Malecki, Magdalena Szopa, Erling Tjora, Gaya Thanabalasingham, Stefan Gaget, Tim James, Nida Shah, Bo Isomaa, Juraj Stanik, Leif Groop, Martine Vaxillaire, Pål R. Njølstad, Natalia Nowak, Tiinamaija Tuomi, P. Kokko, F. Loiseleur, Philippe Froguel, Ehm A. Andersson

Publikováno v: Diabetologia
Diabetologia; Vol 54
Thanabalasingham, G, Shah, N, Vaxillaire, M, Hansen, T, Tuomi, T, Gasperikova, D, Szopa, M, Tjora, E, James, T J, Kokko, P, Loiseleur, F, Andersson, E, Gaget, S, Isomaa, B, Nowak, N, Raeder, H, Stanik, J, Njolstad, P R, Malecki, M T, Klimes, I, Groop, L, Pedersen, O, Froguel, P, McCarthy, M I, Gloyn, A L & Owen, K R 2011, ' A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes ', Diabetologia, vol. 54, no. 11, pp. 2801-2810 .

An accurate molecular diagnosis of diabetes subtype confers clinical benefits; however, many individuals with monogenic diabetes remain undiagnosed. Biomarkers could help to prioritise patients for genetic investigation. We recently demonstrated that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::218045d35fbf75731fa74b040368e23a
https://ora.ox.ac.uk/objects/uuid:dd54992a-b495-4871-9803-b85cea46ea7c