Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene

Molecular and Cellular Endocrinology

Volumn 177, Issue 1-2, 2001, Pages 145-159

  Kerr Whitfield, G ^a   Remus, Lenore S ^a   Jurutka, Peter W ^a   Zitzer, Heike ^a   Oza, Anish K ^a   Dang, Hope T L ^a   Haussler, Carol A ^a   Galligan, Michael A ^a   Thatcher, Michelle L ^a   Dominguez, Carlos Encinas ^a   Haussler, Mark R ^a  

^a University of Arizona   (United States)

Author keywords

Gene polymorphisms; Pharmacogenomics; Vitamin D receptor

Indexed keywords

CALCITRIOL; VITAMIN D RECEPTOR;

ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FIBROBLAST CULTURE; GENE ACTIVITY; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENOTYPE; HUMAN; HUMAN CELL; PRIORITY JOURNAL; RECEPTOR GENE; REPORTER GENE; RESTRICTION SITE;

ALLELES; CELL LINE; FIBROBLASTS; GENE FREQUENCY; GENES, REPORTER; GENOTYPE; HUMANS; POLYMORPHISM, GENETIC; PROTEIN ISOFORMS; RECEPTORS, CALCITRIOL; RECEPTORS, CYTOPLASMIC AND NUCLEAR; TRANS-ACTIVATION (GENETICS); TRANSFECTION;

EID: 0035946991     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-7207(01)00406-3     Document Type: Article

References (74)

1. A vitamin D receptor gene polymorphism in the translation initiation codon: Effect on protein activity and relation to bone mineral density in Japanese women
2. Repeating structure of cytoplasmic poly(A)-ribonucleoprotein
3. Cloning and expression of full-length cDNA encoding human vitamin D receptor
4. Interaction of human thyroid-hormone receptor-beta with transcription factor TFIIB may mediate target gene derepression and activation by thyroid-hormone
5. Vitamin D receptor (VDR) and parathyroid hormone messenger ribonucleic acid levels correspond to polymorphic VDR alleles in human parathyroid tumors
6. The vitamin D receptor start codon polymorphism (Fok1) and bone mineral density in premenopausal women in Taiwan
7. 3
8. The vitamin D receptor (VDR) start codon polymorphism in primary hyperparathyroidism and parathyroid VDR messenger ribonucleic acid levels
9. Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts
10. Association of a vitamin D receptor polymorphism with sporadic breast cancer development
11. Calcitriol differentially modulates mRNA encoding calcitriol receptors and calcium-binding protein 9 kDa in human fetal jejunum
12. Recognition of polyadenylate RNA by the poly(A)-binding protein
13. Vitamin D receptor 3′-untranslated region polymorphisms: Lack of effect on mRNA stability
14. Lack of correlation between start codon polymorphism of the vitamin D receptor gene and bone mineral density in premenopausal French women: The OFELY study
15. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
16. ApaI dimorphism at the human vitamin D receptor gene locus
17. Vitamin D receptor gene start codon polymorphisms (Fok I) and bone mineral density: Interaction with age, dietary calcium, and 3′-end region polymorphisms
18. Bone mineral mass and calcium and phosphate metabolism in young men: Relationships with vitamin D receptor allelic polymorphisms
19. Fok I polymorphism at translation initiation site of the vitamin D receptor gene predicts bone mineral density and vertebral fractures in postmenopausal Italian women
20. Symptomatic hypercalcemia in the first months of life: Calcium-regulating hormones and treatment
21. Mapping the domains of the interaction of the vitamin D receptor and steroid receptor coactivator-1
22. The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women
23. The vitamin D receptor gene start codon polymorphism: A functional analysis of Fok I variants
24. The vitamin D receptor start codon polymorphism (Fok I) and bone mineral density in premenopausal American black and white women
25. The nuclear vitamin D receptor: Biological and molecular regulatory properties revealed
26. Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping
27. Human vitamin D receptor is selectively phosphorylated by protein kinase C on serine 51, a residue crucial to its trans-activation function
28. The T-box near the zinc fingers of the human vitamin D receptor is required for heterodimeric DNA binding and transactivation
29. Characterization of unique DNA binding and transcriptional activation functions in the carboxyl-terminal extension of the zinc finger region in the human vitamin D receptor
30. Vitamin D receptor polymorphisms are associated with altered prognosis in patients with malignant melanoma
31. Strength of linkage disequilibrium between two vitamin D receptor markers in five ethnic groups: Implications for association studies
32. Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor
33. Association of vitamin D receptor genetic polymorphism with breast cancer risk in African-American and Hispanic women
34. 3 receptor ontogenesis in fetal renal development
35. 3 receptor in fetal rat bone
36. 3 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
37. The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB
38. Molecular nature of the vitamin D receptor and its role in regulation of gene expression
39. In vivo function of VDR in gene expression-VDR knock-out mice
40. The autonomous transactivation domain in helix H3 of the vitamin D receptor is required for transactivation and coactivator interaction
41. Association of vitamin D and estrogen receptor gene polymorphism with the effect of hormone replacement therapy on bone mineral density in Japanese women
42. Translation initiation factors eIF-iso4G and eIF-4B interact with the poly(A)-binding protein and increase its RNA binding activity
43. Normalization of mineral ion homeostasis by dietary means prevents hyperparathyroidism, rickets, and osteomalacia, but not alopecia in vitamin D receptor-ablated mice
44. A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets
45. The vitamin D receptor FokI start codon polymorphism and bone mineral density in osteoporotic postmenopausal French women
46. Structural organization of the human vitamin D receptor chromosomal gene and its promoter
47. Quantification of vitamin D receptor mRNA by competitive polymerase chain reaction in PBMC: Lack of correspondence with common allelic variants
48. Contribution of trans-acting factor alleles to normal physiological variability: Vitamin D receptor gene polymorphisms and circulating osteocalcin
49. Prediction of bone density from vitamin D receptor alleles
50. Tales of poly(A): A review
51. The C-terminal region of the vitamin D receptor is essential to form a complex with a receptor auxiliary factor required for high affinity binding to the vitamin D responsive element
52. Vitamin D receptor gene polymorphism in patients with sarcoidosis
53. Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex
54. Crystal structure of the RAR-γ ligand-binding domain bound to all-trans retinoic acid
55. The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand
56. Vitamin D receptor gene polymorphism is associated with metastatic breast cancer
57. A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: Utility of single stranded conformation polymorphism analysis for heterozygous carrier detection
58. Vitamin D receptor ontogenesis in rat liver. Histochem
59. The distribution of two different vitamin D receptor polymorphisms (Bsm I and start codon) in primary hyperparathyroidism
60. A homeodomain protein related to caudal regulates intestine-specific gene transcription
61. 3 receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7
62. 3 in the liver of fetal rats
63. Vitamin D receptor alleles predict growth and bone density in girls
64. The vitamin D-responsive element in the rat bone gla protein is an imperfect direct repeat that cooperates with other cis-elements in 1,25-dihydroxyvitamin D3-mediated transcriptional activation
65. 3 receptors in the central nervous system of the rat embryo
66. Vitamin D receptor: No evidence for allele-specific mRNA stability in cells which are heterozygous for the Taq I restriction enzyme polymorphism
67. Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration
68. A structural role for hormone in the thyroid hormone receptor
69. Significance of vitamin D receptor gene polymorphism for prostate cancer risk in Japanese
70. A highly conserved region in the hormone binding domain of the human vitamin D receptor contains residues vital for heterodimerization with retinoid X receptor and for transcriptional activation
71. 3: Point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner
72. Steroid hormone receptors: Evolution, ligands and molecular basis of biologic function
73. The genetics of osteoporosis: Vitamin D receptor polymorphisms
74. The caudal-related homeodomain protein Cdx-2 regulates vitamin D receptor gene expression in the small intestine