Associated Papers
Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.
Cheng M et al.
Pediatric Diabetes, 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
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Synergistic gene editing in human iPS cells via cell cycle and DNA repair modulation.
Maurissen TL et al.
Nature Communications, 2020
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
Salomon-Estebanez M et al.
Orphanet Journal of Rare Diseases, 2016
Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.
Su C et al.
Hormone Research in Paediatrics, 2014
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR et al.
European Journal of Endocrinology, 2013
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
Bellanné-Chantelot C et al.
Journal of Medical Genetics, 2010
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Edghill EL et al.
Reviews in Endocrine & Metabolic Disorders, 2010
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.
Ilamaran V et al.
Indian Journal of Pediatrics, 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
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
Shimomura K et al.
Embo Molecular Medicine, 2009