Article
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.
The Journal of clinical investigation - 1 Jul 2004
Judge Daniel P, Biery Nancy J, Keene Douglas R, Geubtner Jessica, Myers Loretha, Huso David L, Sakai Lynn Y, Dietz Harry C
Abstract excerpt
Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1). A dominant-negative mechanism has been inferred based upon dominant inheritance, mulitimerization of monomers to form microfibrils, and the dramatic paucity of matrix-incorporated fibrillin-1 seen in heterozygous patient samples. Yeast artificial chromosome-based transgenesis was used to overexpress a...
Topics
- Abnormalities, Multiple
- Alleles
- Animals
- Aorta
- Cardiovascular Abnormalities
- Disease Models, Animal
- Epitopes
- Fibrillin-1
- Fibrillins
- Gene Dosage
- Genes, Dominant
- Humans
- Marfan Syndrome
- Mice