Associated Papers
Kir6.2 channel activity is regulated by interaction of transmembrane domains 1 and 2 through I167 in the bundle-crossing gate.
Kawashima R et al.
Physiological Reports, 2025
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.
de Gouveia Buff Passone C et al.
Pediatric Diabetes, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Integrative Study of the Structural and Dynamical Properties of a KirBac3.1 Mutant: Functional Implication of a Highly Conserved Tryptophan in the Transmembrane Domain.
Fagnen C et al.
International Journal of Molecular Sciences, 2021
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
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
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 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
A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.
Chang WL et al.
Diabetes Research and Clinical Practice, 2014
Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.
Pattnaik BR et al.
Molecular Genetics and Metabolism, 2012
A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
Männikkö R et al.
The Journal of Physiology, 2011
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
Männikkö R et al.
Human Molecular Genetics, 2010
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 2010
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
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.
Della Manna T et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
Shimomura K et al.
Neurology, 2007