Associated Papers
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.
Tinker A et al.
Comprehensive Physiology, 2018
Mutational analysis of KCNJ11 in Chinese elderly essential hypertensive patients.
Li JY et al.
Journal of Geriatric Cardiology : Jgc, 2012
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
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
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
Persistent hyperinsulinemic hypoglycemia of infancy.
Cohen MM
American Journal of Medical Genetics. Part A, 2003
K(ATP) channels and insulin secretion disorders.
Huopio H et al.
American Journal of Physiology. Endocrinology and Metabolism, 2002
Channelopathies of inwardly rectifying potassium channels.
Abraham MR et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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 point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
Otonkoski T et al.
Diabetes, 1999
Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
Meissner T et al.
Human Mutation, 1999
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
Shyng SL et al.
Diabetes, 1998
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.
Nestorowicz A et al.
Diabetes, 1997
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.
Thomas P et al.
Human Molecular Genetics, 1996