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Article

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

The Journal of clinical endocrinology and metabolism - 1 May 2007

Edghill Emma L, Gloyn Anna L, Goriely Anne, Harries Lorna W, Flanagan Sarah E, Rankin Julia, Hattersley Andrew T, Ellard Sian

Abstract excerpt

CONTEXT: Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known. OBJECTIVE: Our objective was to determine the parental origin of de novo KCNJ11 mutations and investigate the possibility of...

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Share to Diabetes Mellitus
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

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Source

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Identifiers

PMID: 17327377
DOI: 10.1210/jc.2006-2817
PMCID: PMC7611879

Genes

KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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