| scholarly article | Q13442814 |
| P2093 | author name string | D Feldman | |
| P J Malloy | |||
| M R Hughes | |||
| B W O'Malley | |||
| J W Pike | |||
| R A Kesterson | |||
| D G Kieback | |||
| P433 | issue | 4886 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | hypocalcemic rickets | Q55786983 |
| vitamin | Q34956 | ||
| vitamin D receptor | Q417057 | ||
| signal transduction | Q828130 | ||
| vitamin D | Q175621 | ||
| P304 | page(s) | 1702-5 | |
| P577 | publication date | 1988-12-23 | |
| P1433 | published in | Science | Q192864 |
| P1476 | title | Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets | |
| P478 | volume | 242 |
| Q37363352 | 13th San Antonio Breast Cancer Symposium--Plenary Lecture. Steroid hormone receptors as transactivators of gene expression |
| Q40641201 | 2-Methylene-19-nor-(20S)-1,25-dihydroxyvitamin D3 potently stimulates gene-specific DNA binding of the vitamin D receptor in osteoblasts |
| Q24624938 | A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds |
| Q36573257 | A conformational switch in nuclear hormone receptors is involved in coupling hormone binding to corepressor release |
| Q40657153 | A mutant androgen receptor from patients with Reifenstein syndrome: identification of the function of a conserved alanine residue in the D box of steroid receptors |
| Q35820806 | A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance |
| Q44240185 | A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets |
| Q34192810 | A possible role of vitamin D receptors in regulating vitamin D activation in the kidney |
| Q33267634 | A prolactin-dependent immune cell line (Nb2) expresses a mutant form of prolactin receptor |
| Q40803905 | A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3). |
| Q44954100 | A single amino acid change in the first zinc finger of the DNA binding domain of the glucocorticoid receptor regulates differential promoter selectivity. |
| Q42128422 | A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia |
| Q24678782 | A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection |
| Q51278320 | Absence of vitamin D receptor (VDR)-mediated PPARγ suppression causes alopecia in VDR-null mice. |
| Q34325160 | An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families |
| Q73133819 | Analysis of the molecular mechanism for the antagonistic action of a novel 1alpha,25-dihydroxyvitamin D(3) analogue toward vitamin D receptor function |
| Q44885650 | Analysis of the vitamin D receptor Fokl polymorphism. |
| Q34566267 | Antiproliferative action of vitamin D. |
| Q61799911 | Assessing the effect of omega-3 fatty acid combined with vitamin D3 versus vitamin D3 alone on estradiol levels: a randomized, placebo-controlled trial in females with vitamin D deficiency |
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| Q50101275 | Biology and Mechanisms of Action of the Vitamin D Hormone |
| Q34283391 | COUP-TF gene: a structure unique for the steroid/thyroid receptor superfamily |
| Q54259396 | Calcium therapy for calcitriol-resistant rickets. |
| Q38322722 | Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance |
| Q33263493 | Characterization of the human androgen receptor transcription unit |
| Q43563720 | Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type II. |
| Q36583162 | Cloning and characterization of the mouse vitamin D receptor promoter |
| Q37115568 | Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphism and circulating osteocalcin |
| Q36414495 | Coordinated control of renal Ca2+ handling |
| Q27651364 | Crystallographic analysis of the interaction of the glucocorticoid receptor with DNA |
| Q37534538 | DNA Damage-Inducible Transcript 4 Is an Innate Surveillant of Hair Follicular Stress in Vitamin D Receptor Knockout Mice and a Regulator of Wound Re-Epithelialization. |
| Q47699717 | DNA Sequence Constraints Define Functionally Active Steroid Nuclear Receptor Binding Sites in Chromatin |
| Q39084383 | Defective control of vitamin D receptor-mediated epithelial STAT1 signalling predisposes to severe respiratory syncytial virus bronchiolitis. |
| Q35685774 | Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array |
| Q38747523 | Detection of single base changes in nucleic acids |
| Q41308506 | Differential Regulation of JunD by Dihydroxycholecalciferol in Human Chronic Myelogenous Leukemia Cells |
| Q41354892 | Differential expression of estrogen receptor mRNA splice variants in the tamoxifen resistant human breast cancer cell line, MCF-7/TAMR-1 compared to the parental MCF-7 cell line |
| Q35888948 | Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site |
| Q41653040 | Dopaminergic and Ligand-Independent Activation of Steroid Hormone Receptors |
| Q34247111 | Drug discovery and the intracellular receptor family |
| Q30748005 | ECaC: the gatekeeper of transepithelial Ca2+ transport |
| Q33937509 | Evolution of the nuclear receptor gene superfamily |
| Q28301008 | Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome |
| Q52532771 | Gene-knockout mice with abnormal epidermal and hair follicular development. |
| Q28315373 | Genetic Disorders of Vitamin D Metabolism |
| Q34228513 | Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene |
| Q36419818 | Genetic defects of the 1,25-dihydroxyvitamin D3 receptor |
| Q33804590 | Genetic mutation in the human 25-hydroxyvitamin D3 1alpha-hydroxylase gene causes vitamin D-dependent rickets type I. |
| Q35027405 | Genetics of susceptibility to leprosy |
| Q37420017 | Genomic Determinants of Vitamin D-Regulated Gene Expression |
| Q47157459 | Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings |
| Q37362493 | Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness |
| Q50656358 | Hereditary vitamin D-resistant rickets presenting as alopecia. |
| Q40707730 | Hormone-nuclear receptor interactions in health and disease. Vitamin D resistance |
| Q33892284 | Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes |
| Q38355812 | Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping. |
| Q33694984 | In vivo function of VDR in gene expression-VDR knock-out mice |
| Q34021575 | Inactivation of the vitamin D receptor enhances susceptibility of murine skin to UV-induced tumorigenesis |
| Q42929298 | Inhibition of calcitriol receptor binding to vitamin D response elements by uremic toxins |
| Q54200876 | Inhibition of nuclear uptake of calcitriol receptor by uremic ultrafiltrate. |
| Q36911899 | Insights from genetic disorders of phosphate homeostasis |
| Q43412079 | Integrity of the 1,25-dihydroxyvitamin D3 receptor in bone, lung, and other cancers |
| Q33624171 | Intra-atrial calcium infusions, growth, and development in end organ resistance to vitamin D |
| Q38356179 | Intron retention generates a novel isoform of the murine vitamin D receptor that acts in a dominant negative way on the vitamin D signaling pathway |
| Q34998014 | Lymphoid enhancer-binding factor-1 (LEF1) interacts with the DNA-binding domain of the vitamin D receptor |
| Q35198220 | Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis |
| Q35054970 | Minireview: nuclear receptor regulation of osteoclast and bone remodeling |
| Q33905985 | Modern view of vitamin D3 and its medicinal uses. |
| Q40562410 | Molecular biology of vitamin D action |
| Q35848798 | Molecular genetics of mineral metabolic disorders |
| Q37406418 | Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia |
| Q34603591 | Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets |
| Q37085282 | Nuclear receptors and female reproduction: a tale of 3 scientists, Jensen, Gustafsson, and O'Malley |
| Q41756427 | Nuclear receptors: structure, function and involvement in disease |
| Q47565483 | Pathogenesis and diagnostic criteria for rickets and osteomalacia--proposal by an expert panel supported by the Ministry of Health, Labour and Welfare, Japan, the Japanese Society for Bone and Mineral Research, and the Japan Endocrine Society |
| Q34481324 | Pharmacogenetic tactics and strategies: implications for paediatrics |
| Q28572560 | Physical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cycling |
| Q40707712 | Physiology of the steroid-thyroid hormone nuclear receptor superfamily |
| Q24625791 | Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance |
| Q36950134 | Prediction of Cis-Regulatory Elements Controlling Genes Differentially Expressed by Retinal and Choroidal Vascular Endothelial Cells. |
| Q41667119 | Pseudohypoaldosteronism: mutation found, problem solved? |
| Q37381729 | RXR gamma null mice are apparently normal and compound RXR alpha +/-/RXR beta -/-/RXR gamma -/- mutant mice are viable. |
| Q24676600 | Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa |
| Q35817684 | Regulation of 1,25-dihydroxyvitamin D3 receptor gene expression by 1,25-dihydroxyvitamin D3 in the parathyroid in vivo |
| Q36472107 | Regulation of TRPV5 and TRPV6 by associated proteins |
| Q37506729 | Regulation of gene expression by 1,25-dihydroxyvitamin D3 in bone cells: exploiting new approaches and defining new mechanisms |
| Q36649088 | Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. |
| Q40786545 | Relating Essential Proteins to Drug Side-Effects Using Canonical Component Analysis: A Structure-Based Approach |
| Q24338748 | Requirement of PDZ domains for the stimulation of the epithelial Ca2+ channel TRPV5 by the NHE regulating factor NHERF2 and the serum and glucocorticoid inducible kinase SGK1 |
| Q41587627 | Retinoic acid receptor and retinoid X receptor expression in retinoic acid—resistant human tumor cell lines |
| Q24601740 | Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity |
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| Q36928799 | Steroid and Thyroid Hormone Receptors |
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| Q37723596 | The 1,25-dihydroxyvitamin D3-independent actions of the vitamin D receptor in skin |
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| Q30984121 | The epithelial calcium channels TRPV5 and TRPV6: regulation and implications for disease |
| Q28271576 | The genomic structure of the human glucocorticoid receptor |
| Q35115497 | The investigation of hypocalcaemia and rickets |
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| Q36003426 | The nonskeletal effects of vitamin D: an Endocrine Society scientific statement. |
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| Q28247148 | The vitamin D receptor is required for activation of cWnt and hedgehog signaling in keratinocytes |
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| Q83672530 | Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene |
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