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Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM. Ellard S, et al. Among authors: patch am. Am J Hum Genet. 2007 Aug;81(2):375-82. doi: 10.1086/519174. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17668386 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. Among authors: patch am. Diabetes. 2008 Apr;57(4):1034-42. doi: 10.2337/db07-1405. Epub 2007 Dec 27. Diabetes. 2008. PMID: 18162506 Free PMC article.
Insulin gene mutations as a cause of permanent neonatal diabetes.
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group. Støy J, et al. Among authors: patch am. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. doi: 10.1073/pnas.0707291104. Epub 2007 Sep 12. Proc Natl Acad Sci U S A. 2007. PMID: 17855560 Free PMC article.
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.
de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch AM, Flanagan SE, Ellard S, Hattersley AT, Sansom MS, Ashcroft FM. de Wet H, et al. Among authors: patch am. Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. doi: 10.1073/pnas.0707428104. Epub 2007 Nov 19. Proc Natl Acad Sci U S A. 2007. PMID: 18025464 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: patch am. 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
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group; Hattersley AT, Ellard S. Rubio-Cabezas O, et al. Among authors: patch am. J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. doi: 10.1210/jc.2009-1137. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837917 Free PMC article.
141 results