Disease model: heritable skin blistering.
Hereditary skin blistering disorders comprise a group of genodermatoses whose common primary feature is the formation of blisters following minor trauma. Examples of such conditions include epidermolysis bullosa and several bullous forms of ichthyosis. Distinct mutations in various genes encoding intra- and extra-cellular structural components of the skin reflect the clinical heterogeneity of these disorders. Several animal models are currently used to study the role of these molecules in the disease process. Some of these models will find their place in evaluating new therapeutic strategies for this devastating group of diseases.
Arin
M J
MJ
Dept of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Roop
D R
DR
D000818:Animals; D001768:Blister / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D051379:Mice; D018345:Mice, Knockout; D008817:Mice, Mutant Strains; D009154:Mutation / Q000235:genetics; D010641:Phenotype