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  1. 10 Μαρ 2015 · ACTA2 (actin, α-2, smooth muscle, aorta; OMIM *102620) is the most frequently mutated gene causing familial thoracic aortic aneurysms and dissection and is responsible for 12% to 21% of familial thoracic aortic aneurysms and dissection cases. 3 – 6 ACTA2 encodes the smooth muscle–specific isoform of α-actin, which polymerizes to form the ...

    • Acta2

      ACTA2 (actin, -2, smooth muscle, aorta; OMIM *102620) α is...

    • Circulation

      Background— TGFBR2 mutations were recognized recently among...

  2. 1 Οκτ 2020 · ACTA2 is a gene that encodes a smooth muscle (aortic) alpha-actin present in vascular smooth muscle cells, whose function includes contraction and motility of the vessels.

  3. 5 Φεβ 2024 · The ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with...

  4. The mechanisms of TGFBR activation display selectivity to cell types, agonists, and TGF-β isoforms, enabling precise control of TGF-β signals. In addition, the cell surface compartments used to...

  5. The clinical and neuroimaging findings of a family with a variant ACTA2 gene (c351C > G), presenting with smooth muscle dysfunction in structures of neural crest derivation, are discussed.

  6. Abstract. α-smooth muscle actin, encoded by ACTA2 gene, is an isoform of the vascular smooth muscle actins, typically expressed in the vascular smooth muscle cells contributing to vascular motility and contraction. ACTA2 gene mutations cause a diversity of diffuse vasculopathies such as thoracic aortic aneurysms and dissections as well as ...

  7. 29 Οκτ 2013 · The parallel upregulation of Acta2 and increase in stellate cell motility and contractility during activation suggested a specific functional role for Acta2 in these processes. Thus, to specifically address the role of Acta2 in motility and contractility, we used 2 different approaches.

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