Associated Papers
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Intellectual Disability in KATP Channel Neonatal Diabetes.
Svalastoga P et al.
Diabetes Care, 2020
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Vedovato N et al.
Diabetologia, 2016
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
O'Connell SM et al.
Clinical Case Reports, 2015
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.
Ahn SY et al.
Korean Journal of Pediatrics, 2015
K(ATP) channelopathies in the pancreas.
Remedi MS et al.
Pflugers Archiv : European Journal of Physiology, 2010
Transient Neonatal Diabetes due to Kcnj11 Mutation.
Kochar IP et al.
Indian Pediatrics, 2010
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus.
Ting WH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Flanagan SE et al.
Human Mutation, 2009
Pharmacogenomics in type II diabetes mellitus management: Steps toward personalized medicine.
Avery P et al.
Pharmacogenomics and Personalized Medicine, 2009
K(ATP) channel pharmacogenomics: from bench to bedside.
Sattiraju S et al.
Clinical Pharmacology and Therapeutics, 2008
Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
Tarasov AI et al.
Diabetes, Obesity & Metabolism, 2007
Permanent neonatal diabetes due to KCNJ11 gene mutation.
Letha S et al.
Indian Journal of Pediatrics, 2007
Molecular cell biology of KATP channels: implications for neonatal diabetes.
Smith AJ et al.
Expert Reviews in Molecular Medicine, 2007
Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.
Flechtner I et al.
Endocrine Development, 2007
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
Girard CA et al.
Pflugers Archiv : European Journal of Physiology, 2006
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.
Flechtner I et al.
Diabetes & Metabolism, 2006
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
Pearson ER et al.
The New England Journal of Medicine, 2006
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes.
Slingerland AS et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
Proks P et al.
Diabetes, 2006
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Gloyn AL et al.
Human Mutation, 2006
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
Hattersley AT et al.
Diabetes, 2005
Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.
Slingerland AS et al.
Annals of Medicine, 2005
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Sagen JV et al.
Diabetes, 2004