Article
Vitamin D-dependent rickets type II: regulation of human osteocalcin gene expression in cells with defective vitamin D receptors by 1,25-dihydroxyvitamin D-3, retinoic acid, and triiodothyronine.
Biochimica et biophysica acta - 29 Nov 1994
Takeda E, Miyamoto K, Kubota M, Minami H, Yokota I, Saijo T, Naito E, Ito M, Kuroda Y
Abstract excerpt
The vitamin D receptor (VDR) is a nuclear transcription factor which binds to the vitamin D response element (VDRE) of the human osteocalcin gene and regulates its expression. Humans with VDR gene mutations, ever among those with the same point mutation in their VDR gene, demonstrate clinical heterogeneity. In addition, in some patients with these mutations, rickets has not recurred following cessation of therapy...
Topics
- Base Sequence
- Bone Remodeling
- Calcitriol
- Fibroblasts
- Gene Expression Regulation
- Humans
- Molecular Sequence Data
- Mutation
- Osteocalcin
- Receptors, Calcitriol