Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype
Flanagan SE, Edghill EL, Gloyn AL et al (2006) Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 49:1190–1197
Pearson ER, Flechtner I, Njølstad PR et al (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 355:467–477
Thurber BW, Carmody D, Tadie EC et al (2015) Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes. Diabetologia 58:1430–1435
WHO Child Growth Standards: length/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age: methods and development. Geneva: World Health Organization
World Health Organization, WHO Multicentre Growth Reference Study Group (2006) WHO Child Growth Standards: length/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age: methods and development. Geneva: World Health Organization. Acta Paediatr Suppl 450:76–85
Hattersley AT (2015) Transferring patients with diabetes due to a KIR6.2 mutation from insulin to sulphonylureas: providing information for patients and professionals on research and clinical care in genetic types of diabetes. Available from www.diabetesgenes.org/content/transferring-patients-diabetes-due-kir62-mutation-insulin-sulphonylureas, accessed 26 Jan 2015
Effects of sulfonamides on a metabolite-regulated ATPi-sensitive K+ channel in rat pancreatic B-cells
COI: 1:CAS:528:DyaK3cXmvFOltQ%3D%3D, PID: 2514595
Gillis KD, Gee WM, Hammoud A et al (1989) Effects of sulfonamides on a metabolite-regulated ATPi-sensitive K+ channel in rat pancreatic B-cells. Am J Physiol 257:C1119–C1127
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism
COI: 1:CAS:528:DC%2BD1MXhtVWrurfI, PID: 20049716
Shimomura K, Flanagan SE, Zadek B et al (2009) Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Mol Med 1:166–177. doi:10.1002/emmm.200900018
Brereton MF, Iberl M, Shimomura K et al (2014) Reversible changes in pancreatic islet structure and function produced by elevated blood glucose. Nat Commun 5:4639. doi:10.1038/ncomms5639
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11
COI: 1:CAS:528:DC%2BD2sXht1CnsrzJ, PID: 17982434
Mlynarski W, Tarasov AI, Gach A et al (2007) Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Nat Clin Pract Neurol 3:640–645. doi:10.1038/ncpneuro0640
Shimomura K, Girard CAJ, Proks P et al (2006) Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes 55:1705–1712. doi:10.2337/db05-1640
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation
PID: 26509030
O’Connell SM, Proks P, Kramer H et al (2015) The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation. Clin Case Rep 3:884–887. doi:10.1002/ccr3.370