Associated Papers
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
40225155 (PubMed )
Supplement: 8857940.f1.pdf
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.
Li M et al.
Journal of Diabetes Research, 2021
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
ATP and sulfonylurea linkage in the K(ATP) channel solves a diabetes puzzler.
Drain P
Diabetes, 2013
Neonatal diabetes caused by activating mutations in the sulphonylurea receptor.
Proks P
Diabetes & Metabolism Journal, 2013
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Edghill EL et al.
Reviews in Endocrine & Metabolic Disorders, 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
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
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
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