Associated Papers
Long-Term Seizure and Neurodevelopmental Outcomes of Three Children with Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND) Syndrome after Early Initiation of Sulphonylurea.
Baby N et al.
Annals of Indian Academy of Neurology, 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
Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.
Chen Y et al.
Journal of Diabetes, 2024
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.
Costa-Riquetto AD et al.
Clinical Genetics, 2023
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
Structural Determinants of Insulin Release: Disordered N-Terminal Tail of Kir6.2 Affects Potassium Channel Dynamics through Interactions with Sulfonylurea Binding Region in a SUR1 Partner.
Walczewska-Szewc K et al.
The Journal of Physical Chemistry. B, 2020
Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China.
Cao L et al.
Endocrine, 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
Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR et al.
Current Diabetes Reports, 2019
Computational Identification of Novel Kir6 Channel Inhibitors.
Chen X et al.
Frontiers in Pharmacology, 2019
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation
Evliyaoğlu O et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.
Thurber BW et al.
Diabetologia, 2015
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
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
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
Molecular basis of neonatal diabetes in Japanese patients.
Suzuki S et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Molecular genetics goes to the diabetes clinic.
Hattersley AT
Clinical Medicine (london, England), 0