title: [Keratin diseases].
abstract: The rapid development in human genome research has resulted in a tremendous increase in our understanding of the molecular basis of many genetic skin diseases. One outstanding example of this is diseases caused by mutations in keratin genes, which comprise several disorders of the epidermis, as for example the different types of epidermolysis bullosa simplex. In this respect, the most important questions have been to 1. Define the molecular defect. 2. Unravel the pathophysiological mechanisms that lead to the characteristic phenotype and 3. Design of new therapeutic strategies. Molecular research has contributed significantly to the first two issues whereas a therapeutic break-through has yet to appear.
authors.affiliation: Arhus Universitetshospital, klinisk genetisk afdeling.
authors.forename: P K
authors.initials: PK
authors.lastname: Jensen
authors.forename: C B
authors.initials: CB
authors.lastname: Sørensen
authors.forename: B S
authors.initials: BS
authors.lastname: Andresen
authors.forename: F
authors.initials: F
authors.lastname: Brandrup
authors.forename: N K
authors.initials: NK
authors.lastname: Veien
authors.forename: S K
authors.initials: SK
authors.lastname: Buus
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: L
authors.initials: L
authors.lastname: Bolund
mesh_terms: D016110:Epidermolysis Bullosa Simplex / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D009260:Nail Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy
chemical_list: D007633:Keratins