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
Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.
Driggers CM et al.
Nature Communications, 2024
Structure of an open K ATP channel reveals tandem PIP 2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.
Driggers CM et al.
Biorxiv : the Preprint Server for Biology, 2024
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.
Tikhonovich Y et al.
Acta Diabetologica, 2022
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC et al.
Diabetologia, 2022
Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?
Ali Khan I
Heliyon, 2021
Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.
Gopi S et al.
Pediatric Diabetes, 2021
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.
Li M et al.
Journal of Diabetes Research, 2021
The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene.
Qin X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
KATP Channel Mutations and Neonatal Diabetes.
Shimomura K et al.
Internal Medicine (tokyo, Japan), 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
Neonatal Diabetes and the KATP Channel: From Mutation to Therapy.
Ashcroft FM et al.
Trends in Endocrinology and Metabolism: Tem, 2017
Water intake disorder in a DEND syndrome afflicted patient with R50P mutation.
Maejima Y et al.
Endocrine Journal, 2015
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.
Martin GM et al.
Frontiers in Physiology, 2013
Neonatal diabetes caused by activating mutations in the sulphonylurea receptor.
Proks P
Diabetes & Metabolism Journal, 2013
A Kir6.2 pore mutation causes inactivation of ATP-sensitive potassium channels by disrupting PIP2-dependent gating.
Bushman JD et al.
Plos One, 2013
Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8).
Babenko AP et al.
Febs Letters, 2011
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
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Edghill EL et al.
Reviews in Endocrine & Metabolic Disorders, 2010
K(ATP) channelopathies in the pancreas.
Remedi MS et al.
Pflugers Archiv : European Journal of Physiology, 2010
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
ATP-sensitive potassium channels in health and disease.
Clark R et al.
Advances in Experimental Medicine and Biology, 2010
Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.
Klupa T et al.
Clinical Endocrinology, 2009
Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.
Pratt EB et al.
The Journal of Biological Chemistry, 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
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
Pharmacogenomics in type II diabetes mellitus management: Steps toward personalized medicine.
Avery P et al.
Pharmacogenomics and Personalized Medicine, 2009
Three C-terminal residues from the sulphonylurea receptor contribute to the functional coupling between the K(ATP) channel subunits SUR2A and Kir6.2.
Dupuis JP et al.
The Journal of Physiology, 2008
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
Rafiq M et al.
Diabetes Care, 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 basis of neonatal diabetes in Japanese patients.
Suzuki S et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.
Proks P et al.
Human Molecular Genetics, 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
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).
Masia R et al.
Diabetes, 2007
Defining the genetic aetiology of monogenic diabetes can improve treatment.
Gloyn AL et al.
Expert Opinion on Pharmacotherapy, 2006
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Proks P et al.
Human Molecular Genetics, 2006