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Page 1
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.
Dash S, Sano H, Rochford JJ, Semple RK, Yeo G, Hyden CS, Soos MA, Clark J, Rodin A, Langenberg C, Druet C, Fawcett KA, Tung YC, Wareham NJ, Barroso I, Lienhard GE, O'Rahilly S, Savage DB. Dash S, et al. Among authors: soos ma. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9350-5. doi: 10.1073/pnas.0900909106. Epub 2009 May 22. Proc Natl Acad Sci U S A. 2009. PMID: 19470471 Free PMC article.
A family with severe insulin resistance and diabetes due to a mutation in AKT2.
George S, Rochford JJ, Wolfrum C, Gray SL, Schinner S, Wilson JC, Soos MA, Murgatroyd PR, Williams RM, Acerini CL, Dunger DB, Barford D, Umpleby AM, Wareham NJ, Davies HA, Schafer AJ, Stoffel M, O'Rahilly S, Barroso I. George S, et al. Among authors: soos ma. Science. 2004 May 28;304(5675):1325-8. doi: 10.1126/science.1096706. Science. 2004. PMID: 15166380 Free PMC article.
Elevated plasma adiponectin in humans with genetically defective insulin receptors.
Semple RK, Soos MA, Luan J, Mitchell CS, Wilson JC, Gurnell M, Cochran EK, Gorden P, Chatterjee VK, Wareham NJ, O'Rahilly S. Semple RK, et al. Among authors: soos ma. J Clin Endocrinol Metab. 2006 Aug;91(8):3219-23. doi: 10.1210/jc.2006-0166. Epub 2006 May 16. J Clin Endocrinol Metab. 2006. PMID: 16705075
Digenic inheritance of severe insulin resistance in a human pedigree.
Savage DB, Agostini M, Barroso I, Gurnell M, Luan J, Meirhaeghe A, Harding AH, Ihrke G, Rajanayagam O, Soos MA, George S, Berger D, Thomas EL, Bell JD, Meeran K, Ross RJ, Vidal-Puig A, Wareham NJ, O'Rahilly S, Chatterjee VK, Schafer AJ. Savage DB, et al. Among authors: soos ma. Nat Genet. 2002 Aug;31(4):379-84. doi: 10.1038/ng926. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118251
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.
Semple RK, Sleigh A, Murgatroyd PR, Adams CA, Bluck L, Jackson S, Vottero A, Kanabar D, Charlton-Menys V, Durrington P, Soos MA, Carpenter TA, Lomas DJ, Cochran EK, Gorden P, O'Rahilly S, Savage DB. Semple RK, et al. Among authors: soos ma. J Clin Invest. 2009 Feb;119(2):315-22. doi: 10.1172/JCI37432. Epub 2009 Jan 26. J Clin Invest. 2009. PMID: 19164855 Free PMC article.
Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.
Raffan E, Soos MA, Rocha N, Tuthill A, Thomsen AR, Hyden CS, Gregory JW, Hindmarsh P, Dattani M, Cochran E, Al Kaabi J, Gorden P, Barroso I, Morling N, O'Rahilly S, Semple RK. Raffan E, et al. Among authors: soos ma. Diabetologia. 2011 May;54(5):1057-65. doi: 10.1007/s00125-011-2066-z. Epub 2011 Feb 12. Diabetologia. 2011. PMID: 21318406 Free PMC article.
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