Associated Papers
Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.
Ba T et al.
Clinical Endocrinology, 2024
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Ankyrin-G mediates targeting of both Na+ and KATP channels to the rat cardiac intercalated disc.
Yang HQ et al.
Elife, 2020
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.
Galcheva S et al.
Frontiers in Endocrinology, 2019
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
Kalish JM et al.
Journal of Medical Genetics, 2016
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.
Nessa A et al.
Frontiers in Endocrinology, 2016
An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide.
Sherif EM et al.
Acta Diabetologica, 2013
Decomposition of slide helix contributions to ATP-dependent inhibition of Kir6.2 channels.
Li JB et al.
The Journal of Biological Chemistry, 2013
Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia.
Bennett K et al.
Reviews in Endocrine & Metabolic Disorders, 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
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