Associated Papers
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
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
Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11.
Yoon JS et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P et al.
The Lancet. Diabetes & Endocrinology, 2018
Utilizing the KCNJ11 Gene Mutations in Spotting Egyptian Patients With Permanent Neonatal Diabetes Who Can Benefit From Treatment Shift.
Ahmed DM et al.
Laboratory Medicine, 2017
Psychiatric morbidity in children with KCNJ11 neonatal diabetes.
Bowman P et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2016
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
A Conserved Residue Cluster That Governs Kinetics of ATP-dependent Gating of Kir6.2 Potassium Channels.
Zhang RS et al.
The Journal of Biological Chemistry, 2015
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
KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life.
Rubio-Cabezas O et al.
Pediatric Diabetes, 2012
Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.
Pattnaik BR et al.
Molecular Genetics and Metabolism, 2012
Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
Russo L et al.
Diabetologia, 2011
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
Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.
Kim MS et al.
Journal of Korean Medical Science, 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
Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene.
Tonini G et al.
Diabetologia, 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
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
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Gloyn AL et al.
Human Molecular Genetics, 2005
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
Massa O et al.
Human Mutation, 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