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Article

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

American journal of human genetics - 1 Aug 2007

Ellard Sian, Flanagan Sarah E, Girard Christophe A, Patch Ann-Marie, Harries Lorna W, Parrish Andrew, Edghill Emma L, Mackay Deborah J G, Proks Peter, Shimomura Kenju, Haberland Holger, Carson Dennis J, Shield Julian P H, Hattersley Andrew T, Ashcroft Frances M

Abstract excerpt

Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes (PNDM). Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported. We studied a cohort of 59 patients with...

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Topics

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Share to ATP-Binding Cassette Transporters
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Insulin Secretion

Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Source

Open in PubMed Open full text

Identifiers

PMID: 17668386
DOI: 10.1086/519174
PMCID: PMC1950816

Genes

ABCC8
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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