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Article

Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume.

PloS one - 1 Jan 2014

Bernelot Moens Sophie J, Mooij Hans L, Hassing H Carlijne, Kruit Janine K, Witjes Julia J, van de Sande Michiel A J, Nederveen Aart J, Xu Ding, Dallinga-Thie Geesje M, Esko Jeffrey D, Stroes Erik S G, Nieuwdorp Max

Abstract excerpt

Exotosin (EXT) proteins are involved in the chain elongation step of heparan sulfate (HS) biosynthesis, which is intricately involved in organ development. Loss of function mutations (LOF) in EXT1 and EXT2 result in hereditary exostoses (HME). Interestingly, HS plays a role in pancreas development and beta-cell function, and genetic variations in EXT2 are associated with an increased risk for type 2 diabetes...

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Share to Exostoses, Multiple Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25541963
DOI: 10.1371/journal.pone.0115662
PMCID: PMC4277348

Genes

EXT2
EXT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume.PMID 25541963Read ↗

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