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
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
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.
Laimon W et al.
Acta Diabetologica, 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
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
Ngoc CTB et al.
Frontiers in Endocrinology, 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
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
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
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China.
Cao B et al.
Journal of Diabetes Research, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 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
[Pharmacogenetics of insulin secretagogue antidiabetics].
Winkler G et al.
Orvosi Hetilap, 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
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
Permanent neonatal diabetes due to KCNJ11 gene mutation.
Letha S et al.
Indian Journal of Pediatrics, 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
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
Defining the genetic aetiology of monogenic diabetes can improve treatment.
Gloyn AL et al.
Expert Opinion on Pharmacotherapy, 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
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Proks P et al.
Human Molecular Genetics, 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