Associated Papers
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Structural Determinants of Insulin Release: Disordered N-Terminal Tail of Kir6.2 Affects Potassium Channel Dynamics through Interactions with Sulfonylurea Binding Region in a SUR1 Partner.
Walczewska-Szewc K et al.
The Journal of Physical Chemistry. B, 2020
The Structural Basis for the Binding of Repaglinide to the Pancreatic KATP Channel.
Ding D et al.
Cell Reports, 2019
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.
Galcheva S et al.
Frontiers in Endocrinology, 2019
Molecular mechanisms of congenital hyperinsulinism.
Rahman SA et al.
Journal of Molecular Endocrinology, 2015
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.
Martin GM et al.
Frontiers in Physiology, 2013
Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia.
Bennett K et al.
Reviews in Endocrine & Metabolic Disorders, 2010
Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.
Taneja TK et al.
Human Molecular Genetics, 2009
The genetic basis of congenital hyperinsulinism.
James C et al.
Journal of Medical Genetics, 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
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
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.
Marthinet E et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Assembly, maturation, and turnover of K(ATP) channel subunits.
Crane A et al.
The Journal of Biological Chemistry, 2004
K(ATP) channels and insulin secretion disorders.
Huopio H et al.
American Journal of Physiology. Endocrinology and Metabolism, 2002
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels.
Sharma N et al.
Kidney International, 2000
Molecular biology of adenosine triphosphate-sensitive potassium channels.
Aguilar-Bryan L et al.
Endocrine Reviews, 1999