Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.
Marassi M et al.
Current Diabetes Reports, 2024
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
KATP channel mutations in congenital hyperinsulinism: Progress and challenges towards mechanism-based therapies.
ElSheikh A et al.
Frontiers in Endocrinology, 2023
[Analysis of genetic variants in four children with congenital hyperinsulinemia].
Lin L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.
Li M et al.
Journal of Diabetes Research, 2021
Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures.
Martin GM et al.
Molecular and Cellular Endocrinology, 2020
Functional characterization of activating mutations in the sulfonylurea receptor 1 (ABCC8) causing neonatal diabetes mellitus in Asian Indian children.
Balamurugan K et al.
Pediatric Diabetes, 2019
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
Xu ZD et al.
Endocrine Connections, 2018
Cryo-electron microscopy structures and progress toward a dynamic understanding of KATP channels.
Puljung MC
The Journal of General Physiology, 2018
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.
Craigie RJ et al.
Frontiers in Endocrinology, 2018
An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.
Flanagan SE et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
Song J et al.
Bmc Medical Genetics, 2017
Modulation of Ionic Channels and Insulin Secretion by Drugs and Hormones in Pancreatic Beta Cells.
Velasco M et al.
Molecular Pharmacology, 2016
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease.
Han B et al.
American Journal of Clinical Pathology, 2016
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
Arya VB et al.
European Journal of Endocrinology, 2014
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.
Martin GM et al.
Frontiers in Physiology, 2013
Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism.
Chen PC et al.
The Journal of Biological Chemistry, 2013
Engineered interaction between SUR1 and Kir6.2 that enhances ATP sensitivity in KATP channels.
Pratt EB et al.
The Journal of General Physiology, 2012
Galactokinase deficiency in a patient with congenital hyperinsulinism.
Bayarchimeg M et al.
Jimd Reports, 2012
N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2.
Pratt EB et al.
The Journal of General Physiology, 2011
Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.
Yorifuji T et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Impact of disease-causing SUR1 mutations on the KATP channel subunit interface probed with a rhodamine protection assay.
Hosy E et al.
The Journal of Biological Chemistry, 2010
Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.
Pratt EB et al.
The Journal of Biological Chemistry, 2009
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
Yan FF et al.
Diabetes, 2007
[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases].
Mendre C et al.
Medecine Sciences : M/s, 0
ATP activates ATP-sensitive potassium channels composed of mutant sulfonylurea receptor 1 and Kir6.2 with diminished PIP2 sensitivity.
Pratt EB et al.
Channels (austin, Tex.), 0
Engineered Kir6.2 mutations that correct the trafficking defect of K(ATP) channels caused by specific SUR1 mutations.
Zhou Q et al.
Channels (austin, Tex.), 0