Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

  title={Mutations in smooth muscle $\alpha$-actin (ACTA2) lead to thoracic aortic aneurysms and dissections},
  author={Dongchuan Guo and Hariyadarshi Pannu and Van Tran-Fadulu and Christina L. Papke and Robert Yu and Nili Avidan and Scott Bourgeois and Anthony L. Estrera and Hazim J. Safi and Elizabeth Sparks and David Amor and Lesley Ad{\`e}s and Vivienne Mcconnell and Colin Eric Willoughby and Dianne N. Abuelo and Marcia C. Willing and Richard Alan Lewis and Dong H. Kim and Steve Scherer and Poyee P. Tung and Chul Ahn and Louis Maximilian Buja and Chander Raman and Sanjay Shete and Dianna M. Milewicz},
  journal={Nature Genetics},
The major function of vascular smooth muscle cells (SMCs) is contraction to regulate blood pressure and flow. SMC contractile force requires cyclic interactions between SMC α-actin (encoded by ACTA2) and the β-myosin heavy chain (encoded by MYH11). Here we show that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD). Structural analyses and immunofluorescence of actin filaments in SMCs derived from individuals heterozygous… 

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Familial thoracic aortic dilatations and dissections: a case control study.

Actin-binding proteins--a unifying hypothesis.

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  • 2004

Mutations in Transforming Growth Factor-&bgr; Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections

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Delineation of the cell and molecular events triggered by cardiomyopathy gene mutations provide new fundamental knowledge about myocyte biology and organ physiology that accounts for cardiac remodeling and defines mechanistic pathways that lead to heart failure.