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GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, Miedzybrodzka Z, Deja G, Wlodarska I, Mlynarski W, Ferrer J, Hattersley AT, Ellard S. Shaw-Smith C, et al. Among authors: mlynarski w. Diabetes. 2014 Aug;63(8):2888-94. doi: 10.2337/db14-0061. Epub 2014 Apr 2. Diabetes. 2014. PMID: 24696446 Free PMC article.
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group; Hattersley AT, Ellard S. Edghill EL, et al. Diabetes. 2008 Apr;57(4):1034-42. doi: 10.2337/db07-1405. Epub 2007 Dec 27. Diabetes. 2008. PMID: 18162506 Free PMC article.
Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.
Klupa T, Kowalska I, Wyka K, Skupien J, Patch AM, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, Sieradzki J, Mlynarski W, Malecki MT. Klupa T, et al. Among authors: mlynarski w. Clin Endocrinol (Oxf). 2009 Sep;71(3):358-62. doi: 10.1111/j.1365-2265.2008.03478.x. Epub 2008 Nov 18. Clin Endocrinol (Oxf). 2009. PMID: 19021632
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births.
Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, Ellard S. Slingerland AS, et al. Among authors: mlynarski w. Diabetologia. 2009 Aug;52(8):1683-5. doi: 10.1007/s00125-009-1416-6. Epub 2009 Jun 5. Diabetologia. 2009. PMID: 19499210 Free PMC article. No abstract available.
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, El Khattabi I, Kim SH, Marselli L, Rich SS, Krolewski AS, Bonner-Weir S, Sharma A, Sale M, Mychaleckyj JC, Kulkarni RN, Doria A. Borowiec M, et al. Among authors: mlynarski wm. Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14460-5. doi: 10.1073/pnas.0906474106. Epub 2009 Aug 10. Proc Natl Acad Sci U S A. 2009. PMID: 19667185 Free PMC article.
427 results