Associated Papers
The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.
Su Y et al.
Plos One, 2025
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E et al.
Human Mutation, 2020
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.
Galcheva S et al.
Frontiers in Endocrinology, 2019
ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.
Tinker A et al.
Comprehensive Physiology, 2018
A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.
Shimomura K et al.
Diabetes, 2013
Mouse Models of β-cell KATP Channel Dysfunction.
Brereton MF et al.
Drug Discovery Today. Disease Models, 2013
Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.
Pattnaik BR et al.
Molecular Genetics and Metabolism, 2012
A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse.
Hugill A et al.
Diabetologia, 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
A K ATP channel-dependent pathway within alpha cells regulates glucagon release from both rodent and human islets of Langerhans.
MacDonald PE et al.
Plos Biology, 2007
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
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.
Marthinet E et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Hyperinsulinism in infancy: from basic science to clinical disease.
Dunne MJ et al.
Physiological Reviews, 2004
Genetics and pathophysiology of hyperinsulinism in infancy.
Cosgrove KE et al.
Hormone Research, 2004
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels.
Sharma N et al.
Kidney International, 2000
Channelopathies of inwardly rectifying potassium channels.
Abraham MR et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 1999
Genetic mutations as a cause of hyperinsulinemic hypoglycemia in children.
Thomas PM
Endocrinology and Metabolism Clinics of North America, 1999
The structure and function of the ATP-sensitive K+ channel in insulin-secreting pancreatic beta-cells.
Miki T et al.
Journal of Molecular Endocrinology, 1999
Molecular biology of adenosine triphosphate-sensitive potassium channels.
Aguilar-Bryan L et al.
Endocrine Reviews, 1999
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.
Nestorowicz A et al.
Diabetes, 1997