Article
Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.
The Journal of clinical investigation - 1 Feb 1995
Eldadah Z A, Brenn T, Furthmayr H, Dietz H C
Abstract excerpt
The Marfan syndrome (MFS) is a connective tissue disorder inherited as an autosomal dominant trait and caused by mutations in the gene encoding fibrillin, a 350-kD glycoprotein that multimerizes to form extracellular microfibrils. It has been unclear whether disease results from a relative deficiency of wild-type fibrillin; from a dominant-negative effect, in which mutant fibrillin monomers disrupt the function...
Topics
- Alleles
- Animals
- Base Sequence
- Clone Cells
- Exons
- Extracellular Matrix Proteins
- Fibrillins
- Fibroblasts
- Fluorescent Antibody Technique
- Frameshift Mutation
- Gene Expression