Tracie E. Bunton

TL;DR: Another gene-targeting mutation, mgR, is described, which shows that underexpression of fibrillin-1 similarly leads to MFS-like manifestations, and Histopathological analysis of mgR/mgR specimens implicates medial calcification, the inflammatory-fibroproliferative response, and inflammation-mediated elastolysis in the natural history of dissecting aneurysm.

TL;DR: A gene-targetting experiment in mice indicates that fibrillin-1 microfibrils are predominantly engaged in tissue homeostasis rather than elastic matrix assembly, which suggests that aortic dilation is due primarily to the failure by themicrofibrillar array of the adventitia to sustain physiological haemodynamic stress, and that disruption of the elastic network of the media is a secondary event.

TL;DR: Previously unrecognized concordant findings in elastic vessels from patients with Marfan syndrome are described, suggesting that the loss of cell attachments signals a nonproductive program to synthesize and remodel an elastic matrix.

TL;DR: Histochemical study revealed severe anatomic disruption of the cochlear and vestibular end organs, suggesting that Kvlqt1 is essential for normal development of the inner ear, and there were no features of BWS, suggest that KvLQT1 is not responsible for BWS.