Associated Papers
HLA-guided identification of monogenic diabetes in antibody-negative type 1 diabetes: frequency and characteristics.
Chen Y et al.
Diabetes & Metabolism, 2026
Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes.
Plengvidhya N et al.
Human Genetics, 2026
The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.
Su Y et al.
Plos One, 2025
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
A Cantú syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation.
Crespo-García T et al.
The Journal of General Physiology, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Mouler M et al.
Pediatric Diabetes, 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
Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes.
Devaraja J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2020
Kir6.2-D323 and SUR2A-Q1336: an intersubunit interaction pairing for allosteric information transfer in the KATP channel complex.
Brennan S et al.
The Biochemical Journal, 2020
Ankyrin-G mediates targeting of both Na+ and KATP channels to the rat cardiac intercalated disc.
Yang HQ et al.
Elife, 2020
Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.
Abali ZY et al.
Hormone Research in Paediatrics, 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
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.
Delvecchio M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
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
Defective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathies.
Kline CF et al.
Biochimica Et Biophysica Acta, 2014
Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.
McTaggart JS et al.
Plos One, 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
Coordinating electrical activity of the heart: ankyrin polypeptides in human cardiac disease.
Curran J et al.
Expert Opinion on Therapeutic Targets, 2011
Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
Russo L et al.
Diabetologia, 2011
Neonatal diabetes mellitus: description of two Puerto Rican children with KCNJ11 activating gene mutation.
Nieves-Rivera F et al.
Puerto Rico Health Sciences Journal, 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
[Long-term follow-up of permanent neonatal diabetes in Tunisian infant].
Ben Hamouda H et al.
Annales D'endocrinologie, 2010
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 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
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J et al.
Pediatric Diabetes, 2008
Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
Tarasov AI et al.
Diabetes, Obesity & Metabolism, 2007
Neonatal diabetes mellitus: a disease linked to multiple mechanisms.
Polak M et al.
Orphanet Journal of Rare Diseases, 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
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 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
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