Journal
DERMATOLOGIC CLINICS
Volume 28, Issue 1, Pages 137-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.det.2009.10.016
Keywords
Epidermolysis bullosa; Transgenic mice; Knock-out mice; Knock-in mice
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For more than 2 decades, animal models have been used to clarify the pathogenic mechanisms of human diseases and develop new therapeutics for these diseases. Several therapies for human diseases have become available through trials using animal models. Epidermolysis bullosa (EB) is one of the most severe inherited skin disorders, whose effective treatments have not been fully available. EB is characterized by abnormalities of the proteins that consist of the dermoepidermal junction. EB has been classified into three major subtypes according to the level of skin cleavage: EB simplex, junctional EB, and dystrophic EB. To date, 13 genes have been shown to cause EB phenotype. After the discovery of the causative genes responsible for each EB subtype, many researchers have tried to develop EB animal models by genetically manipulating the corresponding genes.
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