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Article

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

The Journal of clinical investigation - 1 Aug 2008

Pinney Sara E, MacMullen Courtney, Becker Susan, Lin Yu-Wen, Hanna Cheryl, Thornton Paul, Ganguly Arupa, Shyng Show-Ling, Stanley Charles A

Abstract excerpt

Congenital hyperinsulinism is a condition of dysregulated insulin secretion often caused by inactivating mutations of the ATP-sensitive K+ (KATP) channel in the pancreatic beta cell. Though most disease-causing mutations of the 2 genes encoding KATP subunits, ABCC8 (SUR1) and KCNJ11 (Kir6.2), are recessively inherited, some cases of dominantly inherited inactivating mutations have been reported. To better...

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Source

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Identifiers

PMID: 18596924
DOI: 10.1172/JCI35414
PMCID: PMC2441858

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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