Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains

Bovine model of Marfan syndrome results

Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1

✍ Annie C. Singleton; Anna L. Mitchell; Peter H. Byers; Kathleen A. Potter; James 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB

Marfan Syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin-1 gene (FBN1). Several calves, all sired by a phenotypically normal bull, were found to exhibit the major clinical and pathological characteristics of human MFS (aortic dissection, joint laxity, lens disloca