title: Mutant fibronectin gene in skin fibroblasts of sclerotic lesions from patients with progressive systemic sclerosis.
abstract: A mutant fibronectin gene was identified in skin fibroblasts obtained from sclerotic lesions of 7 patients with progressive systemic sclerosis. We found 2 point mutations adjacent to the cell-attachment tetrapeptide DNA sequence in the cell-binding domain of the fibronectin gene. This observation suggests that the mutant fibronectin is related to an integral component of sclerotic pathogenesis through abnormal cellular interactions.
authors.affiliation: Third Department of Internal Medicine, Osaka University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Deguchi
authors.forename: S
authors.initials: S
authors.lastname: Negoro
authors.forename: S
authors.initials: S
authors.lastname: Kishimoto
mesh_terms: D000595:Amino Acid Sequence; D015139:Blotting, Southern; D002999:Clone Cells; D004252:DNA Mutational Analysis; D005091:Exons; D005347:Fibroblasts / Q000473:pathology*; D005353:Fibronectins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009710:Nucleotide Mapping; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000473:pathology; D012598:Sclerosis / Q000235:genetics / Q000473:pathology; D012867:Skin / Q000473:pathology*
chemical_list: D005353:Fibronectins