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

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 alpha-actin (encoded by ACTA2) and the beta-myosin heavy chain (encoded by MYH11). Here we show that missense mutations in ACTA...

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Veröffentlicht in:	Nature genetics 2007-12, Vol.39 (12), p.1488-1493
Hauptverfasser:	Guo, Dong-Chuan, Pannu, Hariyadarshi, Tran-Fadulu, Van, Papke, Christina L, Yu, Robert K, Avidan, Nili, Bourgeois, Scott, Estrera, Anthony L, Safi, Hazim J, Sparks, Elizabeth, Amor, David, Ades, Lesley, McConnell, Vivienne, Willoughby, Colin E, Abuelo, Dianne, Willing, Marcia, Lewis, Richard A, Kim, Dong H, Scherer, Steve, Tung, Poyee P, Ahn, Chul, Buja, L Maximilian, Raman, C S, Shete, Sanjay S, Milewicz, Dianna M
Format:	Artikel
Sprache:	eng
Schlagworte:	Aneurysms Blood pressure Blood vessels Cells Medical research Muscular system Mutation
Online-Zugang:	Volltext
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