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• W1567373922 endingPage "714" @default.
• W1567373922 startingPage "691" @default.
• W1567373922 abstract "Vitamin D is important in skeletal development and in bone mineralization. The active form of vitamin D, 1α,25-dihydroxyvitamin D, [1,25(OH)2D], binds with high affinity to the vitamin D receptor (VDR), a member of the nuclear receptor family of transcription factors. Genetic mutations in the vitamin D receptor cause the rare genetic disease hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR). Children with HVDRR have rickets, hypocalcemia, hypophosphatemia, and secondary hyperparathyroidism. Some have total alopecia. A number of heterogeneous mutations have been identified in the VDR as the molecular cause of HVDRR. Mutations in DNA-binding domain inactivate the VDR by disrupting contact with VDREs in promoters of target genes. Mutations in the ligand-binding domain reduce the affinity of the VDR for 1,25(OH)2D, prevent the 1,25(OH)2D from binding to the VDR, inhibit RXR heterodimerization, or abolish coactivator interactions. Other types of mutations have also been found including nonsense mutations, splice site mutations, deletions, insertions, and duplications. Children with HVDRR have been successfully treated with intravenous calcium that bypasses the intestinal defect in calcium transport due to the lack of 1,25(OH)2D action on the mutant VDR." @default.
• W1567373922 created "2016-06-24" @default.
• W1567373922 creator A5036496348 @default.
• W1567373922 creator A5060455909 @default.
• W1567373922 date "2010-01-01" @default.
• W1567373922 modified "2023-10-01" @default.
• W1567373922 title "Molecular Defects in the Vitamin D Receptor Associated with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR)" @default.
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