Article
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.
Human molecular genetics - 15 Oct 2007
Pannu Hariyadarshi, Tran-Fadulu Van, Papke Christina L, Scherer Steve, Liu Yaozhong, Presley Caroline, Guo Dongchuan, Estrera Anthony L, Safi Hazim J, Brasier Allan R, Vick G Wesley, Marian A J, Raman C S, Buja L Maximilian, Milewicz Dianna M
Abstract excerpt
Non-syndromic thoracic aortic aneurysms and dissections (TAADs) are inherited in an autosomal dominant manner in approximately 20% of cases. Familial TAAD is genetically heterogeneous and four loci have been mapped for this disease to date, including a locus at 16p for TAAD associated with patent ductus arteriosus (PDA). The defective gene at the 16p locus has recently been identified as the smooth muscle cell...
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