Fibrillin-1 deficiency effect on heart mitral valves
Summary:
Expression profiling of heart mitral valve from homozygous and heterozygous C1039G fibrillin-1 mutants at 6.5 postnatal days. Fibrillin-1 deficient mutants are models for acquired myxomatous mitral valve disease and Marfan syndrome.
Ng CM, Cheng A, Myers LA, Martinez-Murillo F et al. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004 Dec;114(11):1586-92. PMID: 15546004