Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1

We have previously reported rare variants in sarcoma (Src) homology 2 (SH2) B adaptor protein 1 (SH2B1) in individuals with obesity, insulin resistance, and maladaptive behavior. Here, we identify 4 additional SH2B1 variants by sequencing 500 individuals with severe early-onset obesity. SH2B1 has 4...

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Hauptverfasser: Pearce, Laura R., Joe, Ray, Doche, Michael E., Su, Hsiao-Wen, Keogh, Julia M., Henning, Elana, Argetsinger, Lawrence S., Bochukova, Elena G., Cline, Joel M., Garg, Sumedha, Saeed, Sadia, Shoelson, Steven, O'Rahilly, Stephen, Barroso, Inês, Rui, Liangyou, Farooqi, I. Sadaf, Carter-Su, Christin
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2014
Schlagworte:
Brief Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4138566/
https://ncbi.nlm.nih.gov/pubmed/24971614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/en.2014-1264
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