PMC:4502371 / 2000-2700 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PMC/sourceid/4502371","sourcedb":"PMC","sourceid":"4502371","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4502371","text":"Marfan syndrome results from mutations in the fbn1 gene (Dietz et al. 1991; Pyeritz 2000), which encodes an extracellular matrix (ECM) glycoprotein, Fibrillin-1 (FBN1) (Corson et al. 1993). FBN1 is a major component of the FBN1-rich microfibrils, a scaffold of elastic fibers (Kielty et al. 2005). Intact activity of FBN1 is critical to maintain the aortic wall structure, which consists of elastic fibers, collagen fibrils, and smooth muscle cells (SMCs). However, in Marfan patients, these structures are defective and altered due to reduced activity of FBN1 (Cui et al. 2014). As a result, Marfan syndrome patients die mostly due to aortic aneurysm, dissection, and rupture (Judge and Dietz 2005).","tracks":[]}