The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Abstract

I. The Syndrome of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR) A. Historical B. Clinical features of HVDRR C. Pathophysiology D. Alopecia E. 1,25-Dihydroxyvitamin D [1,25-(OH)2D] action and HVDRR II. Vitamin D Physiology A. Metabolism B. 1α-Hydroxylase deficiency III. 1,25-Dihydroxyvitamin D Action Mediated by the Vitamin D receptor (VDR) A. Historical aspects of VDR structure and function B. The domain structure of the VDR C. The regulation of gene expression by the VDR IV. Cellular Basis of HVDRR A. Studies in cultured skin fibroblasts B. Studies in other cells V. The VDR Gene and the Molecular Basis of HVDRR A. The VDR chromosomal gene B. The VDR gene promoter C. Polymorphisms of the VDR gene VI. HVDRR Mutations Causing the Ligand-Binding Positive Phenotype A. Initial description of DNA-binding domain (DBD) mutations B. Characterization of additional DBD mutations C. Structural analysis of DBD mutations VII. HVDRR Mutations Causing the Ligand-Binding Negative Phenotype A. Initial descr...