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

@article{Guo2007MutationsIS,
  title={Mutations in smooth muscle $\alpha$-actin (ACTA2) lead to thoracic aortic aneurysms and dissections},
  author={D. Guo and H. Pannu and V. Tran-Fadulu and Christina L. Papke and Robert K. Yu and N. Avidan and Scott Bourgeois and A. Estrera and H. Safi and E. Sparks and D. Amor and L. Ad{\`e}s and V. Mcconnell and C. Willoughby and D. Abuelo and M. Willing and R. Lewis and D. Kim and Steve Scherer and Poyee P. Tung and C. Ahn and L. Buja and C. Raman and S. Shete and D. Milewicz},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={1488-1493}
}
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… Expand

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