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This project has two objectives. On one hand, it will obtain skin biopsies and generate keratinocyte cultures from individuals with known keratin mutations. This material bank will enhance EBS research using cell biology, biochemistry and gene therapy approaches. On the other hand, the project will generate a conditional mouse model for junctional EB. This is based on the topical elimination of the α3-chain of laminin 332. The model will allow characterization of basement membrane structures, their turnover and functions on cellular and molecular level. Finally, this conditional mouse model is suitable for testing molecular therapies for junctional EB.
Prof. Dr.és-Sciences, Dr. med. Monique Aumailley
Universitäts-Hautklinik Köln
Joseph-Stelzmann-Strasse 9
D-50924 Köln
E-mail: Aumailley@uni-koeln.de
