Associated Papers
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
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
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
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.
Li M et al.
Journal of Diabetes Research, 2021
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism.
Koufakis T et al.
Case Reports in Genetics, 2019
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Neonatal diabetes caused by activating mutations in the sulphonylurea receptor.
Proks P
Diabetes & Metabolism Journal, 2013
Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations.
Riveline JP et al.
Diabetes Care, 2012
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Edghill EL et al.
Reviews in Endocrine & Metabolic Disorders, 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
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
Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator.
Aittoniemi J et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009
A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.
Tarasov AI et al.
Diabetes, 2008
K(ATP) channel pharmacogenomics: from bench to bedside.
Sattiraju S et al.
Clinical Pharmacology and Therapeutics, 2008
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
Patch AM et al.
Diabetes, Obesity & Metabolism, 2007
Molecular cell biology of KATP channels: implications for neonatal diabetes.
Smith AJ et al.
Expert Reviews in Molecular Medicine, 2007
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Vaxillaire M et al.
Diabetes, 2007
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
Babenko AP et al.
The New England Journal of Medicine, 2006