Article

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

2025-08-07

Abstract excerpt

Pathogenic variants affecting alpha-2 smooth muscle actin (ACTA2) account for approximately 20% of non-syndromic 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 cel...

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Literature Corpus work: ba576ba0-c9f6-5b6f-9717-e352e8da6eea
DOI: 10.1101/2025.08.04.25331815

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