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Article

Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.

Stroke - 1 Oct 2005

Pawlikowska Ludmila, Tran Mary N, Achrol Achal S, Ha Connie, Burchard Esteban, Choudhry Shweta, Zaroff Jonathan, Lawton Michael T, Castro Richard, McCulloch Charles E, Marchuk Douglas, Kwok Pui-Yan, Young William L

Abstract excerpt

BACKGROUND AND PURPOSE: Mutations in endoglin (ENG) and activin-like kinase (ALK1) cause hereditary hemorrhagic telangiectasias, disorders characterized by pulmonary and brain arteriovenous malformations (BAVMs). We investigated whether polymorphisms in these genes are also associated with sporadic BAVM. METHODS: A total of 177 sporadic BAVM patients and 129 controls (all subjects white) were genotyped for 2...

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Identifiers

PMID: 16179574
DOI: 10.1161/01.STR.0000182253.91167.fa

Genes

ENG

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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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Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.PMID 16179574Read ↗

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The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.Semantic proximity Read ↗

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