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5. Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels. Zhou Q; Garin I; Castaño L; Argente J; Muñoz-Calvo MT; Perez de Nanclares G; Shyng SL J Clin Endocrinol Metab; 2010 Dec; 95(12):E473-8. PubMed ID: 20810569 [TBL] [Abstract][Full Text] [Related]
6. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. Stanik J; Gasperikova D; Paskova M; Barak L; Javorkova J; Jancova E; Ciljakova M; Hlava P; Michalek J; Flanagan SE; Pearson E; Hattersley AT; Ellard S; Klimes I J Clin Endocrinol Metab; 2007 Apr; 92(4):1276-82. PubMed ID: 17213273 [TBL] [Abstract][Full Text] [Related]
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10. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Proks P; Arnold AL; Bruining J; Girard C; Flanagan SE; Larkin B; Colclough K; Hattersley AT; Ashcroft FM; Ellard S Hum Mol Genet; 2006 Jun; 15(11):1793-800. PubMed ID: 16613899 [TBL] [Abstract][Full Text] [Related]
11. An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1. Craig TJ; Shimomura K; Holl RW; Flanagan SE; Ellard S; Ashcroft FM J Clin Endocrinol Metab; 2009 Jul; 94(7):2551-7. PubMed ID: 19351728 [TBL] [Abstract][Full Text] [Related]
12. Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Shield JP; Flanagan SE; Mackay DJ; Harries LW; Proks P; Girard C; Ashcroft FM; Temple IK; Ellard S Diabetes; 2008 Jan; 57(1):255-8. PubMed ID: 17942821 [TBL] [Abstract][Full Text] [Related]
13. A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. de Wet H; Proks P; Lafond M; Aittoniemi J; Sansom MS; Flanagan SE; Pearson ER; Hattersley AT; Ashcroft FM EMBO Rep; 2008 Jul; 9(7):648-54. PubMed ID: 18497752 [TBL] [Abstract][Full Text] [Related]
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18. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Flanagan SE; Patch AM; Mackay DJ; Edghill EL; Gloyn AL; Robinson D; Shield JP; Temple K; Ellard S; Hattersley AT Diabetes; 2007 Jul; 56(7):1930-7. PubMed ID: 17446535 [TBL] [Abstract][Full Text] [Related]
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20. Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits. Lin YW; Akrouh A; Hsu Y; Hughes N; Nichols CG; De León DD Channels (Austin); 2012; 6(2):133-8. PubMed ID: 22562119 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]