title: Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.
abstract: Cystathionine beta synthase (CBS) is a crucial regulator of plasma concentrations of homocysteine. Severe hyperhomocysteinemia due to CBS deficiency confers diverse clinical manifestations. Patients with severe hyperhomocysteinemia have fine hair and thin skin, but it is unclear whether these changes are related to CBS deficiency or are coincidental. To investigate these aspects of hyperhomocysteinemia, we characterized skin abnormalities of CBS-deficient mice, a murine model of severe hyperhomocysteinemia. Histological and histomorphometric analyses revealed that CBS-deficient mice have wrinkled skin with hyperkeratinosis of the epidermis and thinning of the dermis.
authors.affiliation: EA 3508, University of Paris 7, Denis Diderot, 75251 Paris 05, France.
authors.forename: Karine
authors.initials: K
authors.lastname: Robert
authors.forename: Nicole
authors.initials: N
authors.lastname: Maurin
authors.forename: Aurélie
authors.initials: A
authors.lastname: Ledru
authors.forename: Jean
authors.initials: J
authors.lastname: Delabar
authors.forename: Nathalie
authors.initials: N
authors.lastname: Janel
mesh_terms: D000818:Animals; D003541:Cystathionine beta-Synthase / Q000235:genetics / Q000502:physiology*; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood; D006720:Homozygote; D020138:Hyperhomocysteinemia / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D007642:Keratosis / Q000201:enzymology* / Q000473:pathology*; D051379:Mice; D018345:Mice, Knockout
chemical_list: D006710:Homocysteine; D003541:Cystathionine beta-Synthase