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Human SH2B1 mutations are associated with maladaptive behaviors and obesity.
Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C, Farooqi IS. Doche ME, et al. J Clin Invest. 2012 Dec;122(12):4732-6. doi: 10.1172/JCI62696. Epub 2012 Nov 19. J Clin Invest. 2012. PMID: 23160192 Free PMC article.
Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1.
Pearce LR, Joe R, Doche ME, Su HW, Keogh JM, Henning E, Argetsinger LS, Bochukova EG, Cline JM, Garg S, Saeed S, Shoelson S, O'Rahilly S, Barroso I, Rui L, Farooqi IS, Carter-Su C. Pearce LR, et al. Among authors: doche me. Endocrinology. 2014 Sep;155(9):3219-26. doi: 10.1210/en.2014-1264. Epub 2014 Jun 27. Endocrinology. 2014. PMID: 24971614 Free PMC article.
Hepatic Tm6sf2 overexpression affects cellular ApoB-trafficking, plasma lipid levels, hepatic steatosis and atherosclerosis.
Ehrhardt N, Doche ME, Chen S, Mao HZ, Walsh MT, Bedoya C, Guindi M, Xiong W, Ignatius Irudayam J, Iqbal J, Fuchs S, French SW, Mahmood Hussain M, Arditi M, Arumugaswami V, Péterfy M. Ehrhardt N, et al. Among authors: doche me. Hum Mol Genet. 2017 Jul 15;26(14):2719-2731. doi: 10.1093/hmg/ddx159. Hum Mol Genet. 2017. PMID: 28449094 Free PMC article.