Associated Papers
The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.
Jain V et al.
Clinical Genetics, 2025
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
Chang G et al.
Bmc Endocrine Disorders, 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
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism
Razzaghy-Azar M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
[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
Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism.
Hashemian S et al.
Case Reports in Endocrinology, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Efficacy and safety of octreotide treatment for diazoxide-unresponsive congenital hyperinsulinism in China.
Cao B et al.
Pediatric Investigation, 2020
Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures.
Martin GM et al.
Molecular and Cellular Endocrinology, 2020
Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism.
Hashemian S et al.
International Journal of Endocrinology, 2020
Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning.
Ni J et al.
European Journal of Pediatrics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
Xu ZD et al.
Endocrine Connections, 2018
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.
Bohnen MS et al.
Circulation. Genomic and Precision Medicine, 2018
Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years.
Wang WY et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.
Martin GM et al.
The Journal of Biological Chemistry, 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
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.
Jahnavi S et al.
Annals of Human Genetics, 2014
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR et al.
European Journal of Endocrinology, 2013
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.
Sogno Valin P et al.
Hormone Research in Paediatrics, 2013
Dysmyelination of the cerebral white matter with microdeletion at 6p25.
Kapoor S et al.
Indian Pediatrics, 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
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 2010
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
[18F-fluoro-L-DOPA PET-CT imaging combined with genetic analysis for optimal classification and treatment in a child with severe congenital hyperinsulinism].
Arbizu Lostao J et al.
Anales De Pediatria (barcelona, Spain : 2003), 2008
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
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Fernández-Marmiesse A et al.
Human Mutation, 2006
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
Tornovsky S et al.
The Journal of Clinical Endocrinology and Metabolism, 2004