Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.

Clinical endocrinology - 1 Sept 2009

Klupa Tomasz, Kowalska Irina, Wyka Krystyna, Skupien Jan, Patch Ann-Marie, Flanagan Sarah E, Noczynska Anna, Arciszewska Malgorzata, Ellard Sian, Hattersley Andrew T, Sieradzki Jacek, Mlynarski Wojciech, Malecki Maciej T

Abstract excerpt

OBJECTIVE: Mutations in the ABCC8 gene encoding the SUR1 subunits of the beta-cell K-ATP channel cause neonatal diabetes (ND) mellitus. We aimed to determine the contribution of ABCC8 gene to ND in Poland, to describe the clinical phenotype associated with its mutations and to examine potential m...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP-Binding Cassette Transporters
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Pedigree

Share to Poland

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 19021632
DOI: 10.1111/j.1365-2265.2008.03478.x

Genes

ABCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19021632-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.PMID 19021632Read ↗

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.Semantic proximity Read ↗

Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.Semantic proximity Read ↗

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.Semantic proximity Read ↗

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.Semantic proximity Read ↗

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.Semantic proximity Read ↗

A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation.Semantic proximity Read ↗

ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.Semantic proximity Read ↗

A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.Semantic proximity Read ↗

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.Semantic proximity Read ↗

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

The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.Semantic proximity Read ↗

Heterozygous ABCC8 mutations are a cause of MODY.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.