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Article

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia.

Microvascular research - 1 May 2015

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

Abstract excerpt

UNLABELLED: Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is predominantly caused by mutations in ENG and ACVRL1, which are part of the transforming growth factor beta (TGF-β) signaling pathway. HHT is characterized by the presence of mucocutaneous telangiectases and arteriovenous malformations in visceral organs, primarily the lungs, brain and liver. The most common...

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Source

Identifiers

PMID: 25892364
DOI: 10.1016/j.mvr.2015.04.002

Genes

ENG
ACVRL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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