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Article

Essential role for TMEM100 in vascular integrity but limited contributions to the pathogenesis of hereditary haemorrhagic telangiectasia.

Cardiovascular research - 1 Mar 2015

Moon Eun-Hye, Kim Yoo Sung, Seo Jiyoung, Lee Sabin, Lee Young Jae, Oh Suk Paul

Abstract excerpt

AIMS: TMEM100 was previously identified as a downstream target of activin receptor-like kinase 1 (ALK1; ACVRL1) signalling. Mutations on ALK1 cause hereditary haemorrhagic telangiectasia (HHT), a vascular disorder characterized by mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs). The aims of this study are to investigate the in vivo role of TMEM100 at various developmental and adult...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25538155
DOI: 10.1093/cvr/cvu260
PMCID: PMC6279201

Genes

ACVRL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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