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Article

SMAD4 Deficiency Leads to Development of Arteriovenous Malformations in Neonatal and Adult Mice.

Journal of the American Heart Association - 6 Nov 2018

Kim Yong Hwan, Choe Se-Woon, Chae Min-Young, Hong Suntaek, Oh S Paul

Abstract excerpt

Background Hereditary hemorrhagic telangiectasia ( HHT ) is a rare genetic vascular disorder caused by mutations in endoglin ( ENG ), activin receptor-like kinase 1 ( ACVRL 1; ALK 1), or SMAD 4. Major clinical symptoms of HHT are arteriovenous malformations ( AVM s) found in the brain, lungs, visceral organs, and mucosal surface. Animal models harboring mutations in Eng or Alk1 recapitulate all of these HHT...

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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: 30571376
DOI: 10.1161/JAHA.118.009514
PMCID: PMC6404197

Genes

ALK
ENG
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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