Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.

doi:10.1359/jbmr.060307

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Article

Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2006

Nguyen Minh, d'Alesio Arnold, Pascussi Jean Marc, Kumar Rajiv, Griffin Matthew D, Dong Xiangyang, Guillozo Huguette, Rizk-Rabin Marthe, Sinding Christiane, Bougnères Pierre, Jehan Frédéric, Garabédian Michèle

Abstract excerpt

UNLABELLED: We report here the first association between vitamin D-resistant rickets, alopecia, and type 1 diabetes in a child with compound heterozygous mutations in the VDR gene. Transfection studies suggest dissociated effects of VDR gene mutations on the regulation of genes involved in vitamin D metabolism and dendritic cell maturation. INTRODUCTION: Whereas vitamin D may play a role in the immune tolerance...

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PMID: 16753019
DOI: 10.1359/jbmr.060307

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Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.PMID 16753019Read ↗

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