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2004 1
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Page 1
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. Lindhurst MJ, et al. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Nat Genet. 2012. PMID: 22729222 Free PMC article.
An activating mutation of AKT2 and human hypoglycemia.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK. Hussain K, et al. Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6. Science. 2011. PMID: 21979934 Free PMC article.
IRS2 variants and syndromes of severe insulin resistance.
Bottomley WE, Soos MA, Adams C, Guran T, Howlett TA, Mackie A, Miell J, Monson JP, Temple R, Tenenbaum-Rakover Y, Tymms J, Savage DB, Semple RK, O'Rahilly S, Barroso I. Bottomley WE, et al. Diabetologia. 2009 Jun;52(6):1208-11. doi: 10.1007/s00125-009-1345-4. Epub 2009 Apr 18. Diabetologia. 2009. PMID: 19377890 Free PMC article. No abstract available.
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. Science. 2004 May 28;304(5675):1325-8. doi: 10.1126/science.1096706. Science. 2004. PMID: 15166380 Free PMC article.
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. Diabetes. 2011 Mar;60(3):925-35. doi: 10.2337/db10-1334. Epub 2011 Jan 26. Diabetes. 2011. PMID: 21270239 Free PMC article.