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
Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.
Chen Y et al.
Journal of Diabetes, 2024
Personalized Therapeutics for KATP-Dependent Pathologies.
Nichols CG
Annual Review of Pharmacology and Toxicology, 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
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.
He B et al.
Journal of Diabetes, 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
Functional characterization of activating mutations in the sulfonylurea receptor 1 (ABCC8) causing neonatal diabetes mellitus in Asian Indian children.
Balamurugan K et al.
Pediatric Diabetes, 2019
Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.
Lo FS
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
A novel high-affinity inhibitor against the human ATP-sensitive Kir6.2 channel.
Ramu Y et al.
The Journal of General Physiology, 2018
Running out of time: the decline of channel activity and nucleotide activation in adenosine triphosphate-sensitive K-channels.
Proks P et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2016
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
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
Molecular action of sulphonylureas on KATP channels: a real partnership between drugs and nucleotides.
de Wet H et al.
Biochemical Society Transactions, 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
Structurally distinct ligands rescue biogenesis defects of the KATP channel complex via a converging mechanism.
Devaraneni PK et al.
The Journal of Biological Chemistry, 2015
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.
Martin GM et al.
Frontiers in Physiology, 2013
Molecular mechanism of sulphonylurea block of K(ATP) channels carrying mutations that impair ATP inhibition and cause neonatal diabetes.
Proks P et al.
Diabetes, 2013
ATP and sulfonylurea linkage in the K(ATP) channel solves a diabetes puzzler.
Drain P
Diabetes, 2013
Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report.
Heo JW et al.
Diabetes Research and Clinical Practice, 2013
A Kir6.2 pore mutation causes inactivation of ATP-sensitive potassium channels by disrupting PIP2-dependent gating.
Bushman JD et al.
Plos One, 2013
Forced gating motions by a substituted titratable side chain at the bundle crossing of a potassium channel.
Khurana A et al.
The Journal of Biological Chemistry, 2011
AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child.
Sang Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
K(ATP) channelopathies in the pancreas.
Remedi MS et al.
Pflugers Archiv : European Journal of Physiology, 2010
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
Inwardly rectifying potassium channels: their structure, function, and physiological roles.
Hibino H et al.
Physiological Reviews, 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
Kir6.2 variant E23K increases ATP-sensitive K+ channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance.
Villareal DT et al.
Diabetes, 2009
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
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
Shimomura K et al.
Embo Molecular Medicine, 2009
A cytosolic factor that inhibits KATP channels expressed in Xenopus oocytes by impairing Mg-nucleotide activation by SUR1.
Tammaro P et al.
The Journal of Physiology, 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
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 Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
Tammaro P et al.
Diabetologia, 2008
K(ATP) channel pharmacogenomics: from bench to bedside.
Sattiraju S et al.
Clinical Pharmacology and Therapeutics, 2008
A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
Tammaro P et al.
The Journal of Physiology, 2007
Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome).
Sumnik Z et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2007
Crystal structure of a Kir3.1-prokaryotic Kir channel chimera.
Nishida M et al.
The Embo Journal, 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
Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex.
Yan FF et al.
The Journal of Biological Chemistry, 2006
Defining the genetic aetiology of monogenic diabetes can improve treatment.
Gloyn AL et al.
Expert Opinion on Pharmacotherapy, 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
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
Gloyn AL et al.
European Journal of Human Genetics : Ejhg, 2006