Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension-Reference-Cited by-同舟云学术

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

Published:2019-11 Issue:11 Volume:25 Page:1733-1738
ISSN:1078-8956
Container-title:Nature Medicine
language:en
Short-container-title:Nat Med

Author:

Baron Morgane,Maillet Julie,Huyvaert Marlène,Dechaume Aurélie,Boutry Raphaël,Loiselle Hélène,Durand Emmanuelle,Toussaint Bénédicte,Vaillant Emmanuel,Philippe Julien,Thomas Jérémy,Ghulam Amjad,Franc Sylvia,Charpentier Guillaume,Borys Jean-Michel,Lévy-Marchal Claire,Tauber Maïthé,Scharfmann Raphaël,Weill Jacques,Aubert Cécile,Kerr-Conte Julie,Pattou François,Roussel Ronan,Balkau Beverley,Marre Michel,Boissel Mathilde^ORCID,Derhourhi Mehdi^ORCID,Gaget Stefan,Canouil Mickaël^ORCID,Froguel Philippe^ORCID,Bonnefond Amélie

Funder

Agence Nationale de la Recherche

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.nature.com/articles/s41591-019-0622-0.pdf

Reference34 articles.

1. Asai, M. et al. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science 341, 275–278 (2013).

2. Geets, E. et al. Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi-like patients. Mol. Genet. Metab. 117, 383–388 (2016).

3. Schonnop, L. et al. Decreased melanocortin-4 receptor function conferred by an infrequent variant at the human melanocortin receptor accessory protein 2 gene. Obesity 24, 1976–1982 (2016).