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Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.
Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK; Majewski Osteodysplastic Primordial Dwarfism Study Group. Huang-Doran I, et al. Among authors: semple rk. Diabetes. 2011 Mar;60(3):925-35. doi: 10.2337/db10-1334. Epub 2011 Jan 26. Diabetes. 2011. PMID: 21270239 Free PMC article.
Genetic syndromes of severe insulin resistance.
Semple RK, Savage DB, Cochran EK, Gorden P, O'Rahilly S. Semple RK, et al. Endocr Rev. 2011 Aug;32(4):498-514. doi: 10.1210/er.2010-0020. Epub 2011 May 2. Endocr Rev. 2011. PMID: 21536711 Review.
Metabolic insights from extreme human insulin resistance phenotypes.
Stears A, O'Rahilly S, Semple RK, Savage DB. Stears A, et al. Among authors: semple rk. Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):145-57. doi: 10.1016/j.beem.2011.09.003. Best Pract Res Clin Endocrinol Metab. 2012. PMID: 22498245 Review.
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.
225 results