Associated Papers
Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis.
Goldberg R et al.
Case Reports in Endocrinology, 2025
Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review.
Dodamani MH et al.
Calcified Tissue International, 2023
Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.
Tseng MH et al.
Scientific Reports, 2017
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance.
Isojima T et al.
Bone Reports, 2015
Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.
Lim LM et al.
Plos One, 2015
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Molecular Genetics and Metabolism, 2014
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.
Feldman D et al.
Bonekey Reports, 2014
Identification of a novel nonsense mutation in the ligand-binding domain of the vitamin d receptor gene and clinical description of two greek patients with hereditary vitamin d-resistant rickets and alopecia.
Papadopoulou A et al.
Hormone Research in Paediatrics, 2014
Hairless modulates ligand-dependent activation of the vitamin D receptor-retinoid X receptor heterodimer.
Chuma M et al.
Biological & Pharmaceutical Bulletin, 2012
Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.
Malloy PJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
DNA binding alters coactivator interaction surfaces of the intact VDR-RXR complex.
Zhang J et al.
Nature Structural & Molecular Biology, 2011
Vitamin D receptor ligands, adenomatous polyposis coli, and the vitamin D receptor FokI polymorphism collectively modulate beta-catenin activity in colon cancer cells.
Egan JB et al.
Molecular Carcinogenesis, 2010
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.
Liu Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
Molecular and functional comparison of 1,25-dihydroxyvitamin D(3) and the novel vitamin D receptor ligand, lithocholic acid, in activating transcription of cytochrome P450 3A4.
Jurutka PW et al.
Journal of Cellular Biochemistry, 2005
Physical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cycling.
Hsieh JC et al.
The Journal of Biological Chemistry, 2003
A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Malloy PJ et al.
Molecular Endocrinology (baltimore, Md.), 2002
Regulation of ligand-induced heterodimerization and coactivator interaction by the activation function-2 domain of the vitamin D receptor.
Liu YY et al.
Molecular Endocrinology (baltimore, Md.), 2000
Biochemical evidence for a 170-kilodalton, AF-2-dependent vitamin D receptor/retinoid X receptor coactivator that is highly expressed in osteoblasts.
Jurutka PW et al.
Biochemical and Biophysical Research Communications, 2000
A novel protein complex that interacts with the vitamin D3 receptor in a ligand-dependent manner and enhances VDR transactivation in a cell-free system.
Rachez C et al.
Genes & Development, 1998
Evidence for ligand-dependent intramolecular folding of the AF-2 domain in vitamin D receptor-activated transcription and coactivator interaction.
Masuyama H et al.
Molecular Endocrinology (baltimore, Md.), 1997
Mutations in the 1,25-dihydroxyvitamin D3 receptor identifying C-terminal amino acids required for transcriptional activation that are functionally dissociated from hormone binding, heterodimeric DNA binding, and interaction with basal transcription factor IIB, in vitro.
Jurutka PW et al.
The Journal of Biological Chemistry, 1997