학술논문
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi--like features
Document Type
Report
Author
Bonnefond, Amelie; Raimondo, Anne; Stutzmann, Fanny; Ghoussaini, Maya; Ramachandrappa, Shwetha; Bersten, David C.; Durand, Emmanuelle; Vatin, Vincent; Balkau, Beverley; Lantieri, Olivier; Raverdy, Violeta; Pattou, Francois; Van Hul, Wim; Van Gaal, Luc; Peet, Daniel J.; Weill, Jacques; Miller, Jennifer L.; Horber, Fritz; Goldstone, Anthony P.; Driscoll, Daniel J.; Bruning, John B.; Meyre, David; Whitelaw, Murray L.; Froguel, Philippe
Source
Journal of Clinical Investigation. July 1, 2013, Vol. 123 Issue 7, p3037, 5 p.
Subject
Language
English
ISSN
0021-9738
Abstract
Sim1 haploinsufficiency in mice induces hyperphagic obesity and developmental abnormalities of the brain. In humans, abnormalities in chromosome 6q16, a region that includes SIM1, were reported in obese children with [...]