Associated Papers
Diagnosis and Phenotypes of Idiopathic Diabetes: A Systematic Review.
El Nahas R et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2025
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
Use of a long-term continuous glucose monitor for predicting sulfonylurea dose in patients with neonatal diabetes mellitus: a case series.
Tagawa K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.
McClenaghan C et al.
Hormone Research in Paediatrics, 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
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
Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.
Lin Y et al.
Bmj Open Diabetes Research & Care, 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
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
Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.
Letourneau LR et al.
Current Diabetes Reports, 2018
Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.
Carmody D et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 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
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
Regulation of cardiac ATP-sensitive potassium channel surface expression by calcium/calmodulin-dependent protein kinase II.
Sierra A et al.
The Journal of Biological Chemistry, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas.
Shah RP et al.
Diabetes Care, 2012
A role of the sulfonylurea receptor 1 in endocytic trafficking of ATP-sensitive potassium channels.
Bruederle CE et al.
Traffic (copenhagen, Denmark), 2011
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 2010
An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
Craig TJ et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J et al.
Pediatric Diabetes, 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
Trafficking of ATP-sensitive potassium channels in health and disease.
Sivaprasadarao A et al.
Biochemical Society Transactions, 2007
Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
Polak M et al.
Orphanet Journal of Rare Diseases, 2007
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
Masia R et al.
Diabetes, 2007
Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.
Flechtner I et al.
Endocrine Development, 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
Kir6.2 mutations causing neonatal diabetes prevent endocytosis of ATP-sensitive potassium channels.
Mankouri J et al.
The Embo Journal, 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
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
Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
Proks P et al.
Diabetes, 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
Diabetes and insulin secretion: the ATP-sensitive K+ channel (K ATP) connection.
Koster JC et al.
Diabetes, 2005
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
Hattersley AT et al.
Diabetes, 2005
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
Tammaro P et al.
The Embo Journal, 2005
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
Haider S et al.
Journal of Molecular and Cellular Cardiology, 2005
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Gloyn AL et al.
Human Molecular Genetics, 2005
Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.
Antcliff JF et al.
The Embo Journal, 2005
Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.
Slingerland AS et al.
Annals of Medicine, 2005
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Sagen JV et al.
Diabetes, 2004
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
Vaxillaire M et al.
Diabetes, 2004