title: More than one gene involved in monilethrix: intracellular but also extracellular players.
abstract: Monilethrix, an autosomal dominant human hair disorder, is caused by mutations in three type II hair cortex keratins. Rare cases of the disease with non-vertical transmission have now been found to overlap with localized autosomal recessive hypotrichosis. The underlying gene, desmoglein 4 (DSG4), belongs to the desmosomal cadherin superfamily and is also expressed in the cortex of the hair follicle.
authors.affiliation: Section of Normal and Neoplastic Epidermal Differentiation, German Cancer Research Center, Heidelberg, Germany. j.schweizer@dkfz.de
authors.forename: Jurgen
authors.initials: J
authors.lastname: Schweizer
mesh_terms: D000818:Animals; D051182:Desmogleins / Q000235:genetics* / Q000378:metabolism; D005796:Genes / Q000235:genetics; D006201:Hair Diseases / Q000235:genetics*; D018859:Hair Follicle / Q000378:metabolism; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D051379:Mice; D009154:Mutation; D051381:Rats
chemical_list: C473409:DSG4 protein, human; D051182:Desmogleins