Intravenously Injected Recombinant Human Type VII Collagen Homes to Skin Wounds and Restores Skin Integrity of Dystrophic Epidermolysis Bullosa

Abstract

susceptibility to different forms of skin cancer and carries three intronic variants, one of which affects transcription factor binding. Functional analysis of the possible roles of these and other variants in determining the MSSE phenotype, e.g., by gene expression or chromatin immunoprecipitation sequencing analysis to assess differential transcription factor binding, will require further studies using keratinocytes or cultured primary tumor cells from MSSE-affected patients. Finally, it is possible that, as loss-offunction germline mutations in TGFBR1 are very rare, the conserved haplotype may act as a modifier to increase survival of individuals carrying strong mutations in this potent developmental regulator. This mechanism is supported by the identification of unlinked variant genetic modifiers that are preferentially inherited in mice haploinsufficient for Tgfb1 (Benzinou et al, 2012).