Article
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
American journal of human genetics - 1 May 2009
Guo Dong-Chuan, Papke Christina L, Tran-Fadulu Van, Regalado Ellen S, Avidan Nili, Johnson Ralph Jay, Kim Dong H, Pannu Hariyadarshi, Willing Marcia C, Sparks Elizabeth, Pyeritz Reed E, Singh Michael N, Dalman Ronald L, Grotta James C, Marian Ali J, Boerwinkle Eric A, Frazier Lorraine Q, LeMaire Scott A, Coselli Joseph S, Estrera Anthony L, Safi Hazim J, Veeraraghavan Sudha, Muzny Donna M, Wheeler David A, Willerson James T, Yu Robert K, Shete Sanjay S, Scherer Steven E, Raman C S, Buja L Maximilian, Milewicz Dianna M
Abstract excerpt
The vascular smooth muscle cell (SMC)-specific isoform of alpha-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system. Heterozygous ACTA2 mutations cause familial thoracic aortic aneurysms and dissections (TAAD), but only half of mutation carriers have aortic disease. Linkage analysis and association studies of individuals in 20 families with ACTA2...
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