Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa.
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.
Christiano
A M
AM
Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Uitto
J
J
D000595:Amino Acid Sequence; D000818:Animals; D015703:Antigens, CD / Q000235:genetics; D001324:Autoantigens / Q000235:genetics; D001485:Basement Membrane / Q000737:chemistry* / Q000648:ultrastructure; D002352:Carrier Proteins; D003062:Codon / Q000235:genetics; D003094:Collagen / Q000235:genetics; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D003896:Desmosomes / Q000648:ultrastructure; D000071821:Dystonin; D004820:Epidermolysis Bullosa / Q000145:classification / Q000235:genetics / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D018740:Genetic Heterogeneity; D015316:Genetic Therapy; D005838:Genotype; D006801:Humans; D039663:Integrin beta4; D007633:Keratins / Q000235:genetics; D007797:Laminin / Q000235:genetics; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D017384:Sequence Deletion; D012867:Skin / Q000737:chemistry / Q000648:ultrastructure; D000097805:Collagen Type XVII
D015703:Antigens, CD; D001324:Autoantigens; D002352:Carrier Proteins; D003062:Codon; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D039663:Integrin beta4; D007633:Keratins; D007797:Laminin; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII; C486268:DST protein, human; C095667:Dst protein, mouse