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Article

A Nonsense Mutation in the Inward Rectifier Potassium Channel Gene, <i>Kir6.2</i>, Is Associated With Familial Hyperinsulinism

1 Nov 1997

Abstract excerpt

ATP-sensitive potassium (K[ATP]) channels are an essential component of glucose-dependent insulin secretion in pancreatic islet beta-cells. These channels comprise the sulfonylurea receptor (SUR1) and Kir6.2, a member of the inward rectifier K+ channel family. Mutations in the SUR1 subunit are associated with familial hyperinsulinism (HI) (MIM:256450), an inherited disorder characterized by hyperinsulinism in the...

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Identifiers

PMID: 9356020
DOI: 10.2337/diab.46.11.1743

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A Nonsense Mutation in the Inward Rectifier Potassium Channel Gene, <i>Kir6.2</i>, Is Associated With Familial HyperinsulinismPMID 9356020Read ↗

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.Semantic proximity Read ↗

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Identification of mutations in the Kir6.2 subunit of the K(ATP) channel.Semantic proximity Read ↗

Identification and Rescue of Congenital Hyperinsulinism-Associated <i>ABCC8</i> Mutations that Impair K <sub>ATP</sub> Channel TraffickingSemantic proximity Read ↗

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Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.Semantic proximity Read ↗

A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11.Semantic proximity Read ↗

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Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.Semantic proximity Read ↗

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.Semantic proximity Read ↗

Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels.Semantic proximity Read ↗

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