Associated Papers
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A Japanese school urine screening program led to the diagnosis of KCNJ11-MODY: A case report.
Hattori A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
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
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
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
ATP-dependent potassium channels and type 2 diabetes mellitus.
Bonfanti DH et al.
Clinical Biochemistry, 2015
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
Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.
Fraser CS et al.
European Journal of Endocrinology, 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
Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant.
Siklar Z et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes.
Khadilkar VV et al.
Indian Journal of Pediatrics, 2010
Transient Neonatal Diabetes due to Kcnj11 Mutation.
Kochar IP et al.
Indian Pediatrics, 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
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
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
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J et al.
Pediatric Diabetes, 2008
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
Koster JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
K(ATP) channel pharmacogenomics: from bench to bedside.
Sattiraju S et al.
Clinical Pharmacology and Therapeutics, 2008
Permanent neonatal diabetes due to KCNJ11 gene mutation.
Letha S et al.
Indian Journal of Pediatrics, 2007
Molecular cell biology of KATP channels: implications for neonatal diabetes.
Smith AJ et al.
Expert Reviews in Molecular Medicine, 2007
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Flanagan SE et al.
Diabetes, 2007
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
Edghill EL et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes.
Slingerland AS et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
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
Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.
Proks P et al.
Human Molecular Genetics, 2005
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
Hattersley AT et al.
Diabetes, 2005
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Gloyn AL et al.
Human Molecular Genetics, 2005
Molecular genetics goes to the diabetes clinic.
Hattersley AT
Clinical Medicine (london, England), 0