Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
DC Guo, CL Papke, V Tran-Fadulu… - The American Journal of …, 2009 - cell.com
The vascular smooth muscle cell (SMC)-specific isoform of α-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 mutations indicate that mutation
carriers can have a diversity of vascular diseases, including premature onset of coronary …
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 mutations indicate that mutation
carriers can have a diversity of vascular diseases, including premature onset of coronary …
[PDF][PDF] Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease...
SA LeMaire, S Veeraraghavan, CS Raman, LM Buja - academia.edu
The vascular smooth muscle cell (SMC)-specific isoform of a-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 mutations indicate that mutation
carriers can have a diversity of vascular diseases, including premature onset of coronary …
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 mutations indicate that mutation
carriers can have a diversity of vascular diseases, including premature onset of coronary …
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