Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.
Velde CD et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
Demirbilek H et al.
European Journal of Endocrinology, 2014
K(ATP) channelopathies in the pancreas.
Remedi MS et al.
Pflugers Archiv : European Journal of Physiology, 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
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.
Ohkubo K et al.
Clinical Endocrinology, 2005
Hyperinsulinism in infancy: from basic science to clinical disease.
Dunne MJ et al.
Physiological Reviews, 2004
K(ATP) channels and insulin secretion disorders.
Huopio H et al.
American Journal of Physiology. Endocrinology and Metabolism, 2002
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
Taschenberger G et al.
The Journal of Biological Chemistry, 2002
Persistent hyperinsulinaemic hyperglycaemia of infancy-derived cells; implications for beta-cells that replicate in vitro.
Dunne MJ et al.
Journal of Molecular Endocrinology, 2000
Molecular biology of adenosine triphosphate-sensitive potassium channels.
Aguilar-Bryan L et al.
Endocrine Reviews, 1999
Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
Meissner T et al.
Human Mutation, 1999
Genetic heterogeneity in familial hyperinsulinism.
Nestorowicz A et al.
Human Molecular Genetics, 1998
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
Shyng SL et al.
Diabetes, 1998