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Article

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.

PloS one - 1 Jan 2014

Tørring Pernille M, Larsen Martin Jakob, Kjeldsen Anette D, Ousager Lilian Bomme, Tan Qihua, Brusgaard Klaus

Abstract excerpt

Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in visceral organs. HHT is predominantly caused by mutations in ENG and ACVRL1, which both belong to the TGF-β signalling pathway. The exact mechanism of how haploinsufficiency of ENG and ACVRL1 leads to HHT manifestations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24603890
DOI: 10.1371/journal.pone.0090272
PMCID: PMC3946172

Genes

ACVRL1
ENG

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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