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
Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
Elangeeb ME et al.
Molecules (basel, Switzerland), 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
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
Simulating PIP2-Induced Gating Transitions in Kir6.2 Channels.
Bründl M et al.
Frontiers in Molecular Biosciences, 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
Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.
Bowman P et al.
Diabetes Care, 2019
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
Hashimoto Y et al.
Pediatric Diabetes, 2017
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
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
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
KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life.
Rubio-Cabezas O et al.
Pediatric Diabetes, 2012
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Edghill EL et al.
Reviews in Endocrine & Metabolic Disorders, 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
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
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
Modeling K(ATP) channel gating and its regulation.
Proks P et al.
Progress in Biophysics and Molecular Biology, 2009
Pharmacogenomics in type II diabetes mellitus management: Steps toward personalized medicine.
Avery P et al.
Pharmacogenomics and Personalized Medicine, 2009
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
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
Stanik J et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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
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
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Flanagan SE et al.
Diabetologia, 2006
[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2].
Ille J et al.
Lijecnicki Vjesnik, 0