title: R-spondins in cutaneous biology: nails and cancer.
abstract: The R-spondins are a relatively recently identified family of secreted proteins linked to the Wnt signaling pathway. Recently, human phenotypes have been associated with mutations in two human R-spondins. Germline RSPO4 and RSPO1 mutations result in recessive anonychia (absence of all fingernails and toenails) and a recessive syndrome with XX-male sex reversal, PPK and a predisposition to SCC, respectively. This review discusses the key roles R-spondins play in embryogenesis, adult tissue maintenance and skin carcinogenesis.
authors.affiliation: Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London, Queen Mary, University of London, Whitechapel, London, UK.
authors.forename: Diana C
authors.initials: DC
authors.lastname: Blaydon
authors.forename: Michael P
authors.initials: MP
authors.lastname: Philpott
authors.forename: David P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D002277:Carcinoma / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D009260:Nail Diseases / Q000235:genetics; D009262:Nails / Q000196:embryology*; D012878:Skin Neoplasms / Q000235:genetics*; D019699:Thrombospondins / Q000235:genetics / Q000502:physiology*; D000098907:R-Spondins
chemical_list: D019699:Thrombospondins; C503243:RSPO1 protein, human; D000098907:R-Spondins; C516169:RSPO4 protein, human