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Biallelic Mutations in P4HTM Cause Syndromic Obesity.
Saeed S, Ning L, Badreddine A, Mirza MU, Boissel M, Khanam R, Manzoor J, Janjua QM, Khan WI, Toussaint B, Vaillant E, Amanzougarene S, Derhourhi M, Trant JF, Siegert AM, Lam BYH, Yeo GSH, Chabraoui L, Touzani A, Kulkarni A, Farooqi IS, Bonnefond A, Arslan M, Froguel P. Saeed S, et al. Among authors: vaillant e. Diabetes. 2023 Sep 1;72(9):1228-1234. doi: 10.2337/db22-1017. Diabetes. 2023. PMID: 37083980
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
Bonnefond A, Lomberk G, Buttar N, Busiah K, Vaillant E, Lobbens S, Yengo L, Dechaume A, Mignot B, Simon A, Scharfmann R, Neve B, Tanyolaç S, Hodoglugil U, Pattou F, Cavé H, Iovanna J, Stein R, Polak M, Vaxillaire M, Froguel P, Urrutia R. Bonnefond A, et al. Among authors: vaillant e. J Biol Chem. 2011 Aug 12;286(32):28414-24. doi: 10.1074/jbc.M110.215822. Epub 2011 May 18. J Biol Chem. 2011. PMID: 21592955 Free PMC article.
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.
Bonnefond A, Clément N, Fawcett K, Yengo L, Vaillant E, Guillaume JL, Dechaume A, Payne F, Roussel R, Czernichow S, Hercberg S, Hadjadj S, Balkau B, Marre M, Lantieri O, Langenberg C, Bouatia-Naji N; Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC); Charpentier G, Vaxillaire M, Rocheleau G, Wareham NJ, Sladek R, McCarthy MI, Dina C, Barroso I, Jockers R, Froguel P. Bonnefond A, et al. Among authors: vaillant e. Nat Genet. 2012 Jan 29;44(3):297-301. doi: 10.1038/ng.1053. Nat Genet. 2012. PMID: 22286214 Free PMC article.
Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels.
Bonnefond A, Lamri A, Leloire A, Vaillant E, Roussel R, Lévy-Marchal C, Weill J, Galan P, Hercberg S, Ragot S, Hadjadj S, Charpentier G, Balkau B, Marre M, Fumeron F, Froguel P. Bonnefond A, et al. Among authors: vaillant e. J Med Genet. 2015 Sep;52(9):595-8. doi: 10.1136/jmedgenet-2015-103065. Epub 2015 May 29. J Med Genet. 2015. PMID: 26025001
Loss-of-function mutations in ADCY3 cause monogenic severe obesity.
Saeed S, Bonnefond A, Tamanini F, Mirza MU, Manzoor J, Janjua QM, Din SM, Gaitan J, Milochau A, Durand E, Vaillant E, Haseeb A, De Graeve F, Rabearivelo I, Sand O, Queniat G, Boutry R, Schott DA, Ayesha H, Ali M, Khan WI, Butt TA, Rinne T, Stumpel C, Abderrahmani A, Lang J, Arslan M, Froguel P. Saeed S, et al. Among authors: vaillant e. Nat Genet. 2018 Feb;50(2):175-179. doi: 10.1038/s41588-017-0023-6. Epub 2018 Jan 8. Nat Genet. 2018. PMID: 29311637 Free article.
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Montagne L, Derhourhi M, Piton A, Toussaint B, Durand E, Vaillant E, Thuillier D, Gaget S, De Graeve F, Rabearivelo I, Lansiaux A, Lenne B, Sukno S, Desailloud R, Cnop M, Nicolescu R, Cohen L, Zagury JF, Amouyal M, Weill J, Muller J, Sand O, Delobel B, Froguel P, Bonnefond A. Montagne L, et al. Among authors: vaillant e. Mol Metab. 2018 Jul;13:1-9. doi: 10.1016/j.molmet.2018.05.005. Epub 2018 May 16. Mol Metab. 2018. PMID: 29784605 Free PMC article.
67 results