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Article

Analysis of ACTA2 in European Moyamoya disease patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2011

Roder Constantin, Peters Vera, Kasuya Hidetoshi, Nishizawa Tsutomu, Wakita Sho, Berg Daniela, Schulte Claudia, Khan Nadia, Tatagiba Marcos, Krischek Boris

Abstract excerpt

The discovery of common genetic patterns in different system vascular diseases may provide important insights into the pathogenesis of these severe medical conditions. Recently, the coincidence of mutations in ACTA2 (vascular smooth muscle cell specific isoform of α-actin) in families with thorac...

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Source

Identifiers

PMID: 20970362
DOI: 10.1016/j.ejpn.2010.09.002

Genes

ACTA2
MMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20970362-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Analysis of ACTA2 in European Moyamoya disease patients.PMID 20970362Read ↗

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.Semantic proximity Read ↗

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.Semantic proximity Read ↗

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.Semantic proximity Read ↗

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.Semantic proximity Read ↗

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.Semantic proximity Read ↗

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).Semantic proximity Read ↗

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.Semantic proximity Read ↗

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.Semantic proximity Read ↗

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.Semantic proximity Read ↗

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The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.Semantic proximity Read ↗

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