Article
Enhanced coactivator binding and transcriptional activation of mutant vitamin D receptors from patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets by phosphorylation and vitamin D analogs.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2005
Liu Yan, Shen Qi, Malloy Peter J, Soliman Emad, Peng Xiaorong, Kim Sungtae, Pike J Wesley, Feldman David, Christakos Sylvia
Abstract excerpt
UNLABELLED: In this study, we report that the function of certain mutant VDRs from patients with hereditary HVDRR can at least be partially restored by phosphorylation and hexafluoro 1,25(OH)2D3 analogs. Our study provides new insights into mechanisms involved in enhancement of mutant VDR function. INTRODUCTION: 1,25-Dihydroxyvitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by inactivating...
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