Article
Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1.
The Journal of investigative dermatology - 1 Aug 2008
Viglio Simona, Zoppi Nicoletta, Sangalli Antonella, Gallanti Angelo, Barlati Sergio, Mottes Monica, Colombi Marina, Valli Maurizia
Abstract excerpt
Mutations in the genes encoding for type V collagen have been found in the classical type of Ehlers-Danlos syndrome (EDS); the most common mutations lead to a non-functional COL5A1 allele. We characterized three skin fibroblast strains derived from patients affected by classical EDS caused by COL5A1 haploinsufficiency. As a typical clinical hallmark of EDS is the impaired wound healing, we analyzed the repair...
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