Gene-Specific Endothelial Programs Drive AVM Pathogenesis in SMAD4 and ALK1 Loss-of-Function.

doi:10.1161/ATVBAHA.125.323908

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Article

Gene-Specific Endothelial Programs Drive AVM Pathogenesis in SMAD4 and ALK1 Loss-of-Function.

Arteriosclerosis, thrombosis, and vascular biology - 1 Sept 2026

Oppenheim Olya, Giese Wolfgang, Park Hyojin, Baumann Elisabeth, Ivanov Andranik, Beule Dieter, Eichmann Anne, Gerhardt Holger

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia is a genetic disorder caused by loss-of-function mutations in components of the bone morphogenetic protein signaling pathway, leading to arteriovenous malformations. Most prior work has treated BMP (bone morphogenetic protein) component depletion as mechanistically interchangeable, yet whether distinct genes converge on a shared mechanism remains unclear. We aimed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42460472
DOI: 10.1161/ATVBAHA.125.323908
PMCID: PMC13506206

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.