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Publication : Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.

First Author  Robert K Year  2004
Journal  Anat Rec A Discov Mol Cell Evol Biol Volume  280
Issue  2 Pages  1072-6
PubMed ID  15386278 Mgi Jnum  J:105571
Mgi Id  MGI:3615862 Doi  10.1002/ar.a.20082
Citation  Robert K, et al. (2004) Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia. Anat Rec A Discov Mol Cell Evol Biol 280(2):1072-6
abstractText  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.
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