Absent or defective collagen VII at the dermo-epidermal junction is the hallmark of dystrophic recessive epidermolysis bullosa. Little is known of the alterations of other collagenous and non-collagenous components of the basement membrane; it is likely that their assembly may be disturbed by the la
In situ degradation of basement membrane by recessive dystrophic epidermolysis bullosa fibroblasts and fibroblast-derived metalloproteinases
โ Scribed by Rudd Rebecca, J.; Kreici Niels, C.; Bruckner-Tuderman, Leena; Bauer Eugene, A.; McGuire, Joseph
- Book ID
- 122375974
- Publisher
- Elsevier Science
- Year
- 1993
- Tongue
- English
- Weight
- 162 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0923-1811
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Collagenase and stromelysin expression in recessive dystrophic epidermolysis bullosa (RDEB) was studied at both the protein and the gene expression levels in fibroblast cultures. The amount of enzyme protein in the culture medium, as determined using a specific enzyme assay, showed a 9.7-fold increa
## Communicated by Michel Goossens The Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe inherited skin disease characterized by the absence of collagen type VII (COLVII) and anchoring fibrils (AF), caused by mutations in collagen type VII gene (COL7A1).