Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding--cassette region in Dubin-Johnson syndrome
Article Abstract:
Mutations in the ATP-binding--cassette region in Dubin-Johnson syndrome (DJS) have been studied, and it was found that the human canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) is the gene responsible for DJS. DJS is an autosomal recessive disease that involves conjugated hyperbilirubinemia. The exon-intron structure of the human MRP2/cMOAT gene has been determined. Mutations in patients with DJS have been characterized more precisely. Three mutations including two novel ones were identified. Mutations are concentrated in the first ATP-binding cassette domain. It is likely that disruption in that region is critical to loss of function.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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The pleiotropic functions of the Y-box-binding protein, YB-1
Article Abstract:
This review discusses the function of Y-box-binding protein-1, belonging to the cold-shock domain protein superfamily, in a environmental stress reactions. Results describes properties of the YB-1 and the pleiotropic functions mediated by DNA-RNA transaction and protein-protein interactions. Furthermore, YB-1 is known to be mediating a diverse range of physiological and pathological functions.
Publication Name: BioEssays
Subject: Biological sciences
ISSN: 0265-9247
Year: 2003
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The pleiotropic actions of vitamin D
Article Abstract:
Research reveals that the hormonal form of vitamin D(sub)3 has effects on cellular differentiation, cell proliferation, modulation of immune responsiveness and central nervous system function besides controling calcium homeostasis. Furthermore, it can act as a chemopreventive agent against malignancies and cancer.
Publication Name: BioEssays
Subject: Biological sciences
ISSN: 0265-9247
Year: 2004
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