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Tgfßriib Mutations Trigger Aortic Aneurysm Pathogenesis By Altering Transforming Growth Factor Ss2 Signal Transduction, Katherine J. Bee, David C. Wilkes, Richard B. Devereux, Craig T. Basson, Cathy J. Hatcher

PCOM Scholarly Papers

Background-Thoracic aortic aneurysm (TAA) is a common progressive disorder involving gradual dilation of the ascending and/or descending thoracic aorta that eventually leads to dissection or rupture. Nonsydromic TAA can occur as a genetically triggered, familial disorder that is usually transmitted in a monogenic autosomal dominant fashion and is known as familial TAA. Genetic analyses of families affected with TAA have identified several chromosomal loci, and further mapping of familial TAA genes has highlighted disease-causing mutations in at least 4 genes: myosin heavy chain 11 (MYH11), a-smooth muscle actin (ACTA2), and transforming growth factor ß receptors I and II (TGFßRI and …