Abstract
Spectacular success has recently been made towards elucidation of the molecular basis of various forms of epidermolysis bullosa (EB), a group of heritable blistering skin diseases. The information derived from these studies has already had a profound impact in terms of precise diagnosis and classification, early prenatal prediction of the phenotype and genetic counseling in families at risk for recurrence. This review highlights recent progress made in defining the molecular basis of junctional and dystrophic forms of EB and the genotype/phenotype relationships established from these studies. Extensive molecular studies, such as the ones captured in this review, form a foundation for the rational design of gene therapies to counteract these conditions in the future.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Amino Acid Sequence
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Animals
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Antigens, CD / genetics
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Autoantigens / genetics
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Basement Membrane / chemistry*
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Basement Membrane / ultrastructure
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Carrier Proteins*
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Codon / genetics
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Collagen / genetics
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Collagen Type XVII
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Cytoskeletal Proteins*
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DNA Mutational Analysis
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Desmosomes / ultrastructure
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Dystonin
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Epidermolysis Bullosa / classification
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Epidermolysis Bullosa / genetics
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Epidermolysis Bullosa / metabolism*
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Epidermolysis Bullosa / pathology
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Epidermolysis Bullosa / therapy
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Genetic Heterogeneity
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Genetic Therapy
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Genotype
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Humans
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Integrin beta4
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Keratins / genetics
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Laminin / genetics
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Mice
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Mice, Knockout
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Molecular Sequence Data
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Muscular Dystrophies / genetics
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Mutation
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Nerve Tissue Proteins*
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Non-Fibrillar Collagens*
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Sequence Deletion
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Skin / chemistry
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Skin / ultrastructure
Substances
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Antigens, CD
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Autoantigens
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Carrier Proteins
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Codon
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Cytoskeletal Proteins
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DST protein, human
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Dst protein, mouse
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Dystonin
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Integrin beta4
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Laminin
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Nerve Tissue Proteins
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Non-Fibrillar Collagens
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Keratins
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Collagen