Karen J Loechner Alejandro Akrouh Harley T Kurata Carlo Dionisi-Vici Arianna Maiorana Milena Pizzoferro Vittoria Rufini Jean de Ville de Goyet Carlo Colombo Fabrizio Barbetti Joseph C Koster Colin G Nichols
10.2337/db10-0731
Diabetes
2011 Jan;60(1):209-17.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/20980454/
Hyperinsulinism / congenital Polymorphism, Single Nucleotide Potassium Channels / genetics Potassium Channels, Inwardly Rectifying / genetics
Hyperinsulinism / congenital Polymorphism, Single Nucleotide Potassium Channels / genetics Potassium Channels, Inwardly Rectifying / genetics Case Reports Research Support, N.I.H., Extramural Adenosine Triphosphate / antagonists & inhibitors Carrier State Child DNA / blood DNA / genetics DNA / isolation & purification Gas Chromatography-Mass Spectrometry Gene Amplification Gene Silencing Glucose Tolerance Test Heterozygote Homozygote Humans Hyperinsulinism / therapy Immunoblotting Insulin / metabolism Insulin Secretion Ion Channel Gating / genetics Islets of Langerhans / metabolism Male Mutation Phenotype Polymerase Chain Reaction Potassium Channels / physiology Rubidium / metabolism Insulin Kir6.2 channel Potassium Channels Potassium Channels, Inwardly Rectifying mitochondrial K(ATP) channel Adenosine Triphosphate DNA Rubidium
PMC3012173
20980454
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management
2011