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Article

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

Acta neuropathologica communications - 4 Dec 2015

Georgescu Maria-Magdalena, Pinho Marco da Cunha, Richardson Timothy E, Torrealba Jose, Buja L Maximilian, Milewicz Dianna M, Raisanen Jack M, Burns Dennis K

Abstract excerpt

INTRODUCTION: Smooth muscle cell contraction is an essential function of arteries and relies on the integrity of the actin-myosin apparatus. The tissue-specific α2-smooth muscle actin, encoded by ACTA2, is predominantly expressed in vascular smooth muscle cells. ACTA2 mutations predispose to development of aortic aneurysms and early onset coronary and cerebrovascular disease. Based on arteriographic findings, a...

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Identifiers

PMID: 26637293
DOI: 10.1186/s40478-015-0262-7
PMCID: PMC4670506

Genes

ACTA2

Variants

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