Marfan syndrome (MFS) represents a genetic disorder with ranging clinical presentation, most notably ascending aortic aneurysms. There has been extensive research to elucidate the mechanistic biochemistry of this disease. In this regard, the abundance of TGF-β from a mutation in fibrillin-1 is the suggested etiology. Many important signaling pathways downstream of TGF-β have been well-characterized. Our laboratory has previously demonstrated a unique murine model of MFS resulting in the accelerated formation of ascending aortic aneurysms. This study aims to characterize the relevance of this model to known signaling mechanisms in MFS.
Cavanaugh, Nicholas B.; Dyle, MC; Qian, L; Westergaard, NM; and Turek, JW, "Mouse Model of Marfan Syndrome Accelerates Aneurysmal Formation through Well-Characterized TGF-β Signaling Pathways" (2016). Student Publications and Research. 15.