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Article

Dysregulated smooth muscle cell proliferation and gene expression underlie ACTA2 variant-associated aortopathy.

American journal of physiology. Heart and circulatory physiology - 1 Nov 2025

Pepin Mark E, Mitchell Richard N, Gupta Rajat M

Abstract excerpt

Pathogenic variants affecting alpha-2 smooth muscle actin (ACTA2) account for approximately 20% of nonsyndromic familial thoracic aortic aneurysms (TAA) and confer a high risk of dissection; however, the cell type-specific transcriptional mechanisms underlying ACTA2-associated TAA remain poorly defined, particularly for variants of uncertain significance. In this study, we investigated the transcriptional and...

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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: 41021763
DOI: 10.1152/ajpheart.00579.2025
PMCID: PMC13050153

Genes

ACTA2
DEPP1
FOS
FOSB
JUN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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