Ontology highlight
ABSTRACT:
SUBMITTER: van der Klaauw AA
PROVIDER: S-EPMC6370916 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
van der Klaauw Agatha A AA Croizier Sophie S Mendes de Oliveira Edson E Stadler Lukas K J LKJ Park Soyoung S Kong Youxin Y Banton Matthew C MC Tandon Panna P Hendricks Audrey E AE Keogh Julia M JM Riley Susanna E SE Papadia Sofia S Henning Elana E Bounds Rebecca R Bochukova Elena G EG Mistry Vanisha V O'Rahilly Stephen S Simerly Richard B RB Minchin James E N JEN Barroso Inês I Jones E Yvonne EY Bouret Sebastien G SG Farooqi I Sadaf IS
Cell 20190117 4
Hypothalamic melanocortin neurons play a pivotal role in weight regulation. Here, we examined the contribution of Semaphorin 3 (SEMA3) signaling to the development of these circuits. In genetic studies, we found 40 rare variants in SEMA3A-G and their receptors (PLXNA1-4; NRP1-2) in 573 severely obese individuals; variants disrupted secretion and/or signaling through multiple molecular mechanisms. Rare variants in this set of genes were significantly enriched in 982 severely obese cases compared ...[more]