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Truncation of POC1A associated with short stature and extreme insulin resistance.
Chen JH, Segni M, Payne F, Huang-Doran I, Sleigh A, Adams C; UK10K Consortium; Savage DB, O'Rahilly S, Semple RK, Barroso I. Chen JH, et al. Among authors: semple rk. J Mol Endocrinol. 2015 Oct;55(2):147-58. doi: 10.1530/JME-15-0090. J Mol Endocrinol. 2015. PMID: 26336158 Free PMC article.
PPAR gamma and human metabolic disease.
Semple RK, Chatterjee VK, O'Rahilly S. Semple RK, et al. J Clin Invest. 2006 Mar;116(3):581-9. doi: 10.1172/JCI28003. J Clin Invest. 2006. PMID: 16511590 Free PMC article. Review.
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.
Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple R, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais D, Schwabe J, Barroso I, Trembath R, Wareham N, Nagy L, Gurnell M, O'Rahilly S, Chatterjee K. Agostini M, et al. Cell Metab. 2006 Oct;4(4):303-11. doi: 10.1016/j.cmet.2006.09.003. Cell Metab. 2006. PMID: 17011503 Free PMC article.
225 results