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
The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.
Su Y et al.
Plos One, 2025
Residue 39 of Kir6.2 drives a difference in ATP sensitivity in human and canine beta-cell KATP channels.
Vedovato N et al.
Frontiers in Physiology, 2025
Dynamic duo: Kir6 and SUR in KATP channel structure and function.
Patton BL et al.
Channels (austin, Tex.), 2024
Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.
Driggers CM et al.
Nature Communications, 2024
Structure of an open K ATP channel reveals tandem PIP 2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.
Driggers CM et al.
Biorxiv : the Preprint Server for Biology, 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
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
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
Development of IKATP Ion Channel Blockers Targeting Sulfonylurea Resistant Mutant KIR6.2 Based Channels for Treating DEND Syndrome.
Houtman MJC et al.
Frontiers in Pharmacology, 2021
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report.
Helmi MAM et al.
Journal of the Asean Federation of Endocrine Societies, 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
First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.
Ioacara S et al.
Journal of Diabetes Investigation, 2017
Cryo-EM structure of the ATP-sensitive potassium channel illuminates mechanisms of assembly and gating.
Martin GM et al.
Elife, 2017
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
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
O'Connell SM et al.
Clinical Case Reports, 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
Neonatal diabetes with intractable epilepsy: DEND syndrome.
Singh P et al.
Indian Journal of Pediatrics, 2014
Elucidation of the Inhibitory Effect of Phytochemicals with Kir6.2 Wild-Type and Mutant Models Associated in Type-1 Diabetes through Molecular Docking Approach.
Jagadeb M et al.
Genomics & Informatics, 2014
Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene.
Doneray H et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.
Martin GM et al.
Frontiers in Physiology, 2013
Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle.
Li A et al.
Journal of the American Heart Association, 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
Engineered interaction between SUR1 and Kir6.2 that enhances ATP sensitivity in KATP channels.
Pratt EB et al.
The Journal of General Physiology, 2012
Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population.
Gonen MS et al.
Archives of Medical Research, 2012
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
Inwardly rectifying potassium channels: their structure, function, and physiological roles.
Hibino H et al.
Physiological Reviews, 2010
ATP-sensitive potassium channels in health and disease.
Clark R et al.
Advances in Experimental Medicine and Biology, 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
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
Permanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure.
Shaw ND et al.
International Journal of Pediatric Endocrinology, 2009
Pharmacogenomics in type II diabetes mellitus management: Steps toward personalized medicine.
Avery P et al.
Pharmacogenomics and Personalized Medicine, 2009
DEND mutation in Kir6.2 (KCNJ11) reveals a flexible N-terminal region critical for ATP-sensing of the KATP channel.
Koster JC et al.
Biophysical Journal, 2008
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