Property Summary

NCBI Gene PubMed Count 152
PubMed Score 464.32
PubTator Score 377.11

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
nephrosclerosis -1.106 1.6e-02
malignant mesothelioma 3.800 9.4e-09
psoriasis 1.900 7.4e-57
osteosarcoma 2.420 3.2e-04
glioblastoma 1.100 1.8e-02
medulloblastoma, large-cell 1.400 1.0e-05
non-small cell lung cancer 1.056 1.3e-09
adult high grade glioma 2.300 5.0e-05
invasive ductal carcinoma 1.100 2.5e-04

Protein-protein Interaction (4)

Gene RIF (143)

PMID Text
26607259 this study indicates rs8176345 in CYP27B1 gene is significantly correlated with erlotinib-induced skin rash in patients with advanced non-small cell lung cancer
26575398 Reduced sinonasal levels of 1alpha-hydroxylase are associated with worse quality of life in chronic rhinosinusitis with nasal polyps.
26291067 Increased CYP27B1 expression and local duodenal 1,25(OH)2D3 production during puberty may be a metabolic adaptation that promotes dietary calcium absorption.
26241700 This study reveals no association between CYP27B1 polymorphisms and blood levels of 1alpha,25-hydroxyvitamin D.
26124321 LNCaP cells were stably transfected with CYP27B.
25544771 Data show that cytochrome P450 CYP27B1 and CYP24A1 expression were significantly different between tumor and normal tissues in non-small cell lung cancer (NSCLC).
25542806 Variants of CYP27B1 are associated with both multiple sclerosis and neuromyelitis optica patients in Han Chinese population.
25501638 Results suggest that local expression of CYP27B1 in ovarian tumor cells can modify their behavior and promote a less aggressive phenotype by affecting local concentrations of active of vitamin D levels within the tumor microenvironment.
25488826 Vitamin D-binding protein SNPs are associated with prostate cancer; low 25(OH)D metabolism score and CYP24A1 and CYP27B1 variants are associated with grade
25371233 Case Report: novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) causing vitamin D-dependent rickets type 1.
25284246 Data suggest compound heterozygous mutations in CYP27B1 (missense/frameshift mutations) in 2 brothers are associated with vitamin D-dependent rickets type 1A; entering puberty urinary calcium is marker for secondary hyperparathyroidism. [CASE REPORT]
25060765 The CYP27B1+2838 polymorphism may be useful as pretreatment factor to selection of patients with higher probability of response to therapy.
24643654 Regulation of CYP27B1 and CYP24A1 hydroxylases limits cell-autonomous activation of vitamin D in dendritic cells.
24576880 ocular barrier epithelial cells express the machinery for vitamin D3 and can produce 1,25(OH)2D3.
24535953 We now propose that the low potency of the intrinsic VDR-mediated activities of 25(OH)D3 can be augmented to the level of 1alpha,25(OH)2D3 without its activation through 1alpha-hydroxylation by CYP27B1, but by simply preventing its inactivation by CYP24A1.
24471562 Higher maternal 25(OH)D during pregnancy was associated with significantly higher placental protein expression of CYP27B1 at term supportive of a link between substrate availability and placental production of calcitriol.
24371450 CYP27B1 activity in monocytes is higher among patients with active tuberculosis than those with frequent TB contact.
24308945 Thias study providing additional support for CYP27B1 p.R389H in the pathogenicity of multiple sclerosis.
24245571 Results show that upregulated gene expression of CYP27B1 may lead to misbalance of vitamin D metabolites and may contribute to the pathogenesis of RCC
24158849 Results show that CYP27B1 is predominantly expressed in dendritic cells (DCs). Its expression in these cells is necessary for their response to VitD, which is known to upregulate pathways involved in generating a tolerogenic DC phenotype.
24029861 The increased cutaneous CYP27B1 levels in the CKD patients suggest that the loss of renal activity of this enzyme is at least partially compensated for by the skin.
23894780 Polymorphisms in genes connected to vitamin D--VDR (Vitamin D Receptor), CYP27B1 (1alpha-hydroxylase gene) and DBP (Vitamin D-Binding Protein) may predispose people to development of autoimmune thyroiditis. [review]
23886824 The data do not support a major role for rare CYP27B1 variants in the etiology of multiple sclerosis.
23614044 The rs703842 A>G polymorphism of CYP27B1 may play a role in HLA-B27-associated uveitis.
23483640 These results provide evidence against a major role for CYP27B1 mutations in multiple sclerosis.
23444327 The results of this study suggested that no evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.
23423976 CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells.
23334593 This study demonistrated that CYP27B1 mRNA increase in white matter of brain with patient in multiple sclerosis.
23286944 genetic polymorphism is associated with the frequency of dendritic cell subsets in patients with type 1 diabetes
23149444 genetic association studies in population in Italy: Data suggest that 3 SNPs (CYP27B1, rs4646536; IL28B, rs8099917; SLC28A2 rs11854484) are associated with pharmacokinetics of ribavirin and thus, sustained virologic response in hepatitis C patients.
23063903 Finding suggest that GG genotype of CYP2R1 polymorphism and/or CC genotype of CYP27B1 polymorphism increased the risk of developing of type 1 diabetes in Egyptian children.
23045480 IL-13 induces vitamin D-dependent hCAP18/LL-37 expression in bronchial epithelial cells most likely by increasing CYP27B1.
22995334 Reduction of CYP27B1 correlates with melanoma phenotype and behavior, and its lack affects the survival of melanoma patients, indicating a role in the pathogenesis and progression of this cancer.
22963605 These results suggest that the CYP27B1-1260 promoter polymorphism is possibly associated with the persistence, but not susceptibility to HBV infection in Chinese HBV patients.
22612324 This study evaluatee the associations between vitamin D receptor, CYP27B1 and CYP24A1 gene polymorphisms with oral cancer risk and survival.
22588163 The study describes nine novel mutations in addition to 37 known mutations of CYP27B1 gene and shows the correlation between these mutations and the clinical findings of 1alpha-hydroxylase deficiency.
22547098 rare variants in CYP27B1, which encodes the enzyme that converts vitamin D to its active form, are strongly associated with MS risk supports a causal role of vitamin D deficiency as a risk factor for MS
22516854 A genetic study identify a rare mutation in CYP27B1 in a multiple sclerosis family
22511602 The CYP27B1 expression was increased in follicular adenoma and differentiated thyroid cancer compared with normal thyroid.
22446158 CYP27B1 expression in macrophage and platenta
22443290 investigated CYP27B1 mutation in seven patients from four separate families and characterize the genotype-phenotype correlation
22326730 the expression and distribution of the 1alpha-OHase in hyperplastic human parathyroid tissue, and regulation of the enzyme in cultured human parathyroid cells.
22190362 This study demonistrated that Rare variants in the CYP27B1 gene are associated with multiple sclerosis and more likely to be vitamin D deficient prior to disease onset.
21869486 Novel vitamin D 1alpha-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient
21542014 CYP27B1 is required for the antiproliferative and prodifferentiation effects of 25(OH)D(3) on human marrow stromal cells.
21441443 Study confirms that variation in CYP27B1 is associated with predisposition to autoimmune disease type 1 diabetes.
21440908 Findings fail to directly connect vitamin D metabolism gene 1-alpha-hydroxylase (CYP27B1) enzyme polymorphisms to multiple sclerosis susceptibility in Canadians.
21145801 Reduced 25-hydroxyvitamin D levels and CYP27B1-1260 promoter polymorphism leading to reduced 1,25-dihydroxyvitamin D levels are associated with failure to achieve response in HCV genotype 1, 2, and 3 infected patients
21107545 The data suggest that a common but functional variation within the CYP27B1 promoter gene is associated with fracture risk in the elderly.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20847308 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20831823 Low CYP27B1 is associated with invasive breast tumours.
20809279 Observational study of gene-disease association. (HuGE Navigator)
20701904 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20687218 Observational study of gene-disease association. (HuGE Navigator)
20654748 Observational study of gene-disease association. (HuGE Navigator)
20648053 Associations with three single nulceotide polymorphisms in the Swedish materials between CYP27B1 gene multiple sclerosis was shown.
20648053 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20619365 Studies indicate that vitamin D synthesis, a two-step process, starts with a 25-hydroxylation primarily by CYP2R1 and a subsequent 1alpha-hydroxylation via CYP27B1.
20534770 A novel mutation in the CYP27B1 gene was found in patient with vitamin D dependent Rickets type I.
20518841 No significant differences in the allele and genotype frequencies of PDCD1 and CYP27B1 polymorphisms were found between Type 1 diabetes patients and controls.
20518841 Observational study of gene-disease association. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
20304056 human PBLs show only weak methylation in the upstream region of CYP27B1 and none in CYP24A1
20152900 analysis of 1alpha-hydroxylase and innate immune responses to 25-hydroxyvitamin D in colonic cell lines
20082271 Observational study of gene-disease association. (HuGE Navigator)
20007432 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19998245 this study confirms the association of the CYP27B1 C(-1260)A polymorphism with autoimmune Addison's disease.
19998245 Observational study of gene-disease association. (HuGE Navigator)
19966181 Circulating 25OHD amplifies vitamin D signaling through IGF-I up-regulation, which in turn induces CYP27B1 in a feed-forward mechanism to potentiate osteoblast differentiation.
19951419 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19891555 a SNP in CYP27B1 was associated with congestive heart failure (odds ratio: 2.14 for subjects homozygous for the C allele; 95% CI: 1.05-4.39).
19891555 Observational study of gene-disease association. (HuGE Navigator)
19852851 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19783860 No significant differences were observed in genotype or allele frequencies between case and control groups for VDR, CYP27B1 or CYP2R1 SNPs
19783860 Observational study of gene-disease association. (HuGE Navigator)
19706847 A possible interaction between CYP27B1 and UV-weighted sun exposure with proximal colon cancer was observed.
19706847 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19667158 Compared to the benign cell line, the malignant cell lines showed a significantly higher expression of 1alphaOHase at the RNA level. A statistically lower expression of the 1alphaOHase protein was found in the malignant tissue
19625176 Observational study of gene-disease association. (HuGE Navigator)
19524013 Repression of CYP27B1 gene expression may be a common event but the novel inhibitory elements we have identified may be unique to osteoblasts.
19505920 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19454612 common genotypic variation found in VDR, CYP27B1, and CYP24A1 has little or no effect on overall prostate cancer risk
19453261 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
19255064 Single nucleotide polymorphisms may be associated with risk of prostate cancer in men with low vitamin D status.
19255064 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19219539 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19154546 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18843020 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
18768522 No evidence that CYP27B1 polymorphisms were associated with mammographic breast density among Caucasian premenopausal women of French descent.
18767934 CYP27B1 does not commonly serve as a classical tumor suppressor gene in the development of sporadic parathyroid adenomas or of refractory secondary/tertiary hyperparathyroidism
18767073 Oncogenic transformation of mammary epithelial cellS was associated with reduced 1alpha,25(OH)2D3 synthesis, and reduced mRNA and protein levels of VDR and CYP27b1
18689381 Significant associations of 2 CYP27B1 SNP variants and 25(OH)D concentrations were observed. The findings indicate important genetic influences on regulation of seasonal circulating 25(OH)D concentrations in MS twins.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18495603 Observational study of gene-disease association. (HuGE Navigator)
18476984 Observational study of gene-disease association. (HuGE Navigator)
17932346 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17932346 Association between polymorphisms across the entire vitamin D receptor (VDR) gene and genes encoding for vitamin D activating enzyme 1-alpha-hydroxylase (CYP27B1) and deactivating enzyme 24-hyroxylase (CYP24A1) and prostate cancer risk.
17878529 Seveeral splice variants are identified in breast cancer cell lines and malignant cells ma contain inactive variants.
17606874 Observational study of gene-disease association. (HuGE Navigator)
17606874 Common inherited variation in the vitamin D metabolism such as mutation in CYP27B1 affect susceptibility to type 1 diabetes.
17488797 4 novel & 4 known mutations were identified in patients with 1alpha-hydroxylase deficiency; new mutations included a nonsense mutation in exon 6; deletion of adenine in exon 9 ; substitution of thymine for cytosine in exon 2; & a splice site mutation
17426122 The identification of two new vitamin D response element-binding regions in the distal promoter that bind vitamin D receptor-retinoid X receptor complexes.
17395703 Data indicate that noncoding splice variants of CYP27b1 are functionally active and may play a significant role in the regulation of 1,25(OH)2D3 synthesis during normal physiology.
17395559 Evidence is presented for autocrine and paracrine activities of CYP27B1.
17368179 local synthesis of 1,25(OH)(2)D(3) may be a preferred mode of response to antigenic challenge in many tissues
17287116 abundance of less active 1alpha-hydroxylase protein variants can alter the local synthesis of calcitriol in the cells and may explain variations of enzymatic activity in different cells and tissues
17267208 confirm a crucial role for STAT1alpha as well as for C/EBPbeta in the regulation of 1alpha-hydroxylase in monocytes
17254772 local 1,25D synthesis has paracrine effects in the bone microenvironment implying that vitamin D metabolism in human osteoblasts represents a physiologically important pathway
17236759 modulation of the 25 hydroxyvitamin D(3)-1alpha-hydroxylase opens up a new target for vitamin D(3) related therapies in endometrial cancer
17223345 CYP27B1 gene could play a functional role in the pathogenesis of type 1 diabetes through modulation of its mRNA expression and influence serum levels of 1,25(OH)(2)D(3) via the -1260 C/A polymorphism
17207994 growth factor independent 1 may play a significant role in the down regulation of endogenous production of 1,25D in prostate cancer cells and could provide a novel insight to future diagnosis and treatment
17207990 expression of the 5'-flanking region for the CYP27B1 gene in osteoblast cells may be regulated differently to that previously described in kidney cells
17079137 The overall data suggest that calcitriol downregulates CYP27B1 expression via a cAMP-dependent signaling pathway, whereas upregulates 24-hydroxylase gene expression through a VDR-dependent mechanism
17023519 Expression, activity, and functionality of 1alpha-hydroxylase unequivocally demonstrates that vitamin D can act in an auto/paracrine manner in bone.
16720713 Results describe the expression, localization and regulation of 1,25(OH)(2)D(3), 1alpha-hydroxylase in human cycling and early pregnant endometrium.
16549446 first studies to demonstrate that nontransformed human mammary cells express 25 hydroxyvitamin D3-1-alpha hydroxylase(CYP27B1), and that they are growth inhibited by physiologically relevant concentrations of 25(OH)D3
16061850 CYP27B1 splice variants have roles in vitamin D(3) metabolism in human glioblastoma multiforme
15956353 Observational study of gene-disease association. (HuGE Navigator)
15947108 GFI1 in prostate cancer cells acts as a repressor of 25-hydroxyvitamin D 1-alpha hydroxylase gene.
15795327 evidence for the expression of an enzymatically active 25(OH)D3-1alpha-hydroxylase system in human VSMCs, which can be upregulated by parathyroid hormone and estrogenic compounds, an autocrine mechanism to curb changes in VSMC proliferation
15589699 1Alpha-hydroxylase is found in both neurons and glial cells of the brain in a regional and layer-specific pattern.
15331405 Increased expression of 25-hydroxyvitamin D-1alpha-hydroxylase is associated with dysgerminomas
15296474 Observational study of gene-disease association. (HuGE Navigator)
15296474 The CYP27B1 promoter (-1260) C/A polymorphism appears to be associated with endocrine autoimmune diseases but the CYP27B1 intron 6 (+2838) C/T polymorphism appears to be associated only with Hashimoto's thyroiditis.
15243130 Down-regulation of 1alpha-hydroxylase promoter through NFkappaB signaling may contribute to the pathogenesis of inflammation-associated osteopenia/osteoporosis.
15225751 suggests that there are some minor structural and functional differences between the wild-type VDR and the Delta165-215 deletion mutant and that Y143 residue is more important for receptor function than residue S278
14671156 mRNA in alveolar macrophages greater in lung cancer than controls. Advanced stage of lung cancer showed highest expression, followed by early group, then controls.
12855575 demonstrated constitutive expression of 25(OH)D3-1 alpha-hydroxylase in monocyte-derived dendritic cells, which was increased after stimulation with LPS.
12746631 Polymorphism of this gene may be associated with NIDDM in Poland.
12496369 Targeted disruption of this protein in ras-transformed keratinocytes demonstrates that this locally produced protein suppresses growth and induces differentiation in an autocrine fashion.
12457456 The common presence of the "b", "a" and "u" alleles in the vitamin D receptor greatly increases the probability of insulin-dependent diabetes in girls.
12386916 Observational study of gene-disease association. (HuGE Navigator)
12161526 Expression and activity of 25-hydroxyvitamin D-1 alpha-hydroxylase are restricted in cultures of human syncytiotrophoblast cells from preeclamptic pregnancies.
12137802 activity is diminished in human prostate cancer cells and is enhanced by gene transfer
12050193 Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
12039697 CYP1alpha intron 6 polymorphism appears not to be associated with type 1 diabetes mellitus, Graves' disease and Hashimoto's thyroiditis.
9282826 HIV-1 Matrix activates fructose 1,6-bisphosphatase gene expression by induction of 1alpha-hydroxylase activity

AA Sequence

MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAA      1 - 70
HFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSL     71 - 140
LAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCL    141 - 210
EAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNG    211 - 280
GQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAA    281 - 350
LSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPA    351 - 420
QFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPK    421 - 490
TRTVLVPERSINLQFLDR                                                        491 - 508
//

Text Mined References (156)

PMID Year Title
26607259 2016 Identification of polymorphic variants associated with erlotinib-related skin toxicity in advanced non-small cell lung cancer patients by DMET microarray analysis.
26575398 2016 Reduced sinonasal levels of 1?-hydroxylase are associated with worse quality of life in chronic rhinosinusitis with nasal polyps.
26291067 2015 Duodenal Expression of 25 Hydroxyvitamin D3-1?-hydroxylase Is Higher in Adolescents Than in Children and Adults.
26241700 2015 CYP24A1 and CYP27B1 Polymorphisms, Concentrations of Vitamin D Metabolites, and Odds of Colorectal Adenoma Recurrence.
26124321 2015 Molecular Mechanism(s) Involved in 25-Hydroxyvitamin D's Antiproliferative Effects in CYP27B1-transfected LNCaP Cells.
25544771 2015 Genetic polymorphisms in the vitamin D pathway in relation to lung cancer risk and survival.
25542806 2015 Variants of CYP27B1 are associated with both multiple sclerosis and neuromyelitis optica patients in Han Chinese population.
25501638 2015 Decreased expression of CYP27B1 correlates with the increased aggressiveness of ovarian carcinomas.
25488826 2015 Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer: a nested case-control study.
25371233 2014 A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.
25284246 2015 Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A.
25060765 2015 Role of CYP27B1+2838 promoter polymorphism in the treatment of chronic hepatitis B HBeAg negative with PEG-interferon.
24643654 2014 Regulation of CYP27B1 and CYP24A1 hydroxylases limits cell-autonomous activation of vitamin D in dendritic cells.
24576880 2014 Characterization of vitamin D production by human ocular barrier cells.
24535953 2014 Potent antiproliferative effects of 25-hydroxy-16-ene-23-yne-vitamin D? that resists the catalytic activity of both CYP27B1 and CYP24A1.
24471562 2014 Placental CYP27B1 and CYP24A1 expression in human placental tissue and their association with maternal and neonatal calcitropic hormones.
24371450 2013 Elevated 1- ? hydroxylase activity in monocytes from patients with active tuberculosis.
24308945 2014 Analysis of CYP27B1 in multiple sclerosis.
24245571 2013 Vitamin D hydroxylases CYP2R1, CYP27B1 and CYP24A1 in renal cell carcinoma.
24158849 2014 The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells.
24029861 2013 A narrow-band ultraviolet B course improves vitamin D balance and alters cutaneous CYP27A1 and CYP27B1 mRNA expression levels in haemodialysis patients supplemented with oral vitamin D.
23894780 2013 [Vitamin D in the etiopathogenesis of autoimmune thyroiditis].
23886824 2014 No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.
23614044 2013 Association between polymorphism of the vitamin D metabolism gene CYP27B1 and HLA-B27-associated uveitis. Is a state of relative immunodeficiency pathogenic in HLA B27-positive uveitis?
23483640 2013 No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis.
23444327 2013 No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.
23423976 2013 CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells.
23334593 2013 Expression of vitamin D receptor and metabolizing enzymes in multiple sclerosis-affected brain tissue.
23286944 2013 Influence of the vitamin D plasma level and vitamin D-related genetic polymorphisms on the immune status of patients with type 1 diabetes: a pilot study.
23149444 2012 Negative predictive value of IL28B, SLC28A2, and CYP27B1 SNPs and low RBV plasma exposure for therapeutic response to PEG/IFN-RBV treatment.
23063903 2012 Synergism of CYP2R1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Egyptian children.
23045480 2012 Interleukin 13 exposure enhances vitamin D-mediated expression of the human cathelicidin antimicrobial peptide 18/LL-37 in bronchial epithelial cells.
22995334 2013 Expression of the vitamin D-activating enzyme 1?-hydroxylase (CYP27B1) decreases during melanoma progression.
22963605 2012 Single-nucleotide polymorphism at CYP27B1-1260, but not VDR Taq I, is possibly associated with persistent hepatitis B virus infection.
22612324 2012 Vitamin D receptor, CYP27B1 and CYP24A1 genes polymorphisms association with oral cancer risk and survival.
22588163 2012 Novel mutations of CYP27B1 gene lead to reduced activity of 1?-hydroxylase in Chinese patients.
22547098 2012 Vitamin D and multiple sclerosis: epidemiology, immunology, and genetics.
22516854 2012 Genetics of multiple sclerosis: swimming in an ocean of data.
22511602 2012 Altered expression of key players in vitamin D metabolism and signaling in malignant and benign thyroid tumors.
22446158 2012 Extrarenal expression of the 25-hydroxyvitamin D-1-hydroxylase.
22443290 2012 Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.
22326730 2012 Distribution and regulation of the 25-hydroxyvitamin D3 1?-hydroxylase in human parathyroid glands.
22190362 2011 Rare variants in the CYP27B1 gene are associated with multiple sclerosis.
21869486 2011 Novel vitamin D 1?-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient.
21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
21542014 2011 Effects of 25-hydroxyvitamin D(3) on proliferation and osteoblast differentiation of human marrow stromal cells require CYP27B1/1?-hydroxylase.
21441443 2011 Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.
21440908 2011 Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians.
21145801 2011 Vitamin D deficiency and a CYP27B1-1260 promoter polymorphism are associated with chronic hepatitis C and poor response to interferon-alfa based therapy.
21107545 2011 Contribution of a common variant in the promoter of the 1-?-hydroxylase gene (CYP27B1) to fracture risk in the elderly.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20847308 2010 Association of the vitamin D metabolism gene CYP24A1 with coronary artery calcification.
20831823 2010 Alterations in Vitamin D signalling and metabolic pathways in breast cancer progression: a study of VDR, CYP27B1 and CYP24A1 expression in benign and malignant breast lesions.
20809279 2010 Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.
20701904 2010 Early life environment, neurodevelopment and the interrelation with atopy.
20687218 2010 Vitamin D pathway gene variants and prostate cancer prognosis.
20654748 2010 High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density.
20648053 2010 Confirmation of association between multiple sclerosis and CYP27B1.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20619365 2011 Cytochromes P450 are essential players in the vitamin D signaling system.
20534770 2010 A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1.
20518841 2010 PTPN22, PDCD1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Polish patients.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20304056 2010 Epigenetic regulation of vitamin D converting enzymes.
20152900 2010 1alpha-hydroxylase and innate immune responses to 25-hydroxyvitamin D in colonic cell lines.
20082271 2010 Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients.
20007432 2010 Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis.
19998245 2010 Association of the CYP27B1 C(-1260)A polymorphism with autoimmune Addison's disease.
19966181 2010 Vitamin D metabolism and action in human bone marrow stromal cells.
19951419 2009 Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19891555 2009 Genetic variation in CYP27B1 is associated with congestive heart failure in patients with hypertension.
19852851 2009 Asthma and genes encoding components of the vitamin D pathway.
19783860 2010 A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy.
19706847 2009 Vitamin D related genes, CYP24A1 and CYP27B1, and colon cancer risk.
19667158 2009 25-Hydroxyvitamin D3 1alpha-hydroxylase splice variants in benign and malignant ovarian cell lines and tissue.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19525955 2009 Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
19524013 2009 Regulation of the 5'-flanking region of the human CYP27B1 gene in osteoblast cells.
19505920 2009 Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.
19454612 2009 Vitamin D pathway gene variants and prostate cancer risk.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19255064 2009 Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.
19219539 2009 Plasma 1,25 dihydroxy vitamin D3 level and expression of vitamin d receptor and cathelicidin in pulmonary tuberculosis.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19154546 2009 Serum 25-hydroxyvitamin D and IgE - a significant but nonlinear relationship.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
18843020 2008 Genetic variation in calcium-sensing receptor and risk for colon cancer.
18768522 2008 Vitamin D pathway polymorphisms in relation to mammographic breast density.
18767934 2009 Analysis of CYP27B1, encoding 25-hydroxyvitamin D-1alpha-hydroxylase, as a candidate tumor suppressor gene in primary and severe secondary/tertiary hyperparathyroidism.
18767073 2008 Mammary epithelial cell transformation is associated with deregulation of the vitamin D pathway.
18689381 2008 Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18495603 2008 [Relevance of CYP27B1 gene promoter polymorphism to autoimmune thyroid diseases].
18476984 2008 Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms.
17932346 2007 Comprehensive association analysis of the vitamin D pathway genes, VDR, CYP27B1, and CYP24A1, in prostate cancer.
17878529 25-Hydroxyvitamin D3 1alpha-hydroxylase splice variants in breast cell lines MCF-7 and MCF-10.
17606874 2007 Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.
17488797 2007 Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.
17426122 2007 Selective use of multiple vitamin D response elements underlies the 1 alpha,25-dihydroxyvitamin D3-mediated negative regulation of the human CYP27B1 gene.
17395703 2007 Splice variants of the CYP27b1 gene and the regulation of 1,25-dihydroxyvitamin D3 production.
17395559 2007 Metabolism of vitamin D3 in human osteoblasts: evidence for autocrine and paracrine activities of 1 alpha,25-dihydroxyvitamin D3.
17368179 2007 Extra-renal 25-hydroxyvitamin D3-1alpha-hydroxylase in human health and disease.
17287116 2007 Expression of splice variants of 1alpha-hydroxylase in mcf-7 breast cancer cells.
17267208 2007 Immune regulation of 1alpha-hydroxylase in murine peritoneal macrophages: unravelling the IFNgamma pathway.
17254772 2007 RNAi-mediated silencing of CYP27B1 abolishes 1,25(OH)2D3 synthesis and reduces osteocalcin and CYP24 mRNA expression in human osteosarcoma (HOS) cells.
17236759 2007 Expression of 25 hydroxyvitamin D3-1alpha-hydroxylase in human endometrial tissue.
17223345 2007 CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients.
17207994 2007 Role of oncoprotein growth factor independent-1 (GFI1) in repression of 25-hydroxyvitamin D 1alpha-hydroxylase (CYP27B1): a comparative analysis in human prostate cancer and kidney cells.
17207990 2007 Regulation of the CYP27B1 5'-flanking region by transforming growth factor-beta in ROS 17/2.8 osteoblast-like cells.
17079137 2007 Regulation of Vitamin D hydroxylases gene expression by 1,25-dihydroxyvitamin D3 and cyclic AMP in cultured human syncytiotrophoblasts.
17023519 2006 Evidence for auto/paracrine actions of vitamin D in bone: 1alpha-hydroxylase expression and activity in human bone cells.
16720713 2006 Cycling and early pregnant endometrium as a site of regulated expression of the vitamin D system.
16549446 2006 Human mammary epithelial cells express CYP27B1 and are growth inhibited by 25-hydroxyvitamin D-3, the major circulating form of vitamin D-3.
16061850 2005 Vitamin D(3) metabolism in human glioblastoma multiforme: functionality of CYP27B1 splice variants, metabolism of calcidiol, and effect of calcitriol.
15956353 2005 A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population.
15951480 2005 Vitamin D.
15947108 2005 Identification of growth factor independent-1 (GFI1) as a repressor of 25-hydroxyvitamin D 1-alpha hydroxylase (CYP27B1) gene expression in human prostate cancer cells.
15795327 2005 25-hydroxyvitamin D3-1alpha-hydroxylase is expressed in human vascular smooth muscle cells and is upregulated by parathyroid hormone and estrogenic compounds.
15589699 2005 Distribution of the vitamin D receptor and 1 alpha-hydroxylase in human brain.
15583024 2004 Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15331405 2004 Increased expression of 25-hydroxyvitamin D-1alpha-hydroxylase in dysgerminomas: a novel form of humoral hypercalcemia of malignancy.
15296474 2004 A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans.
15243130 2004 Down-regulation by nuclear factor kappaB of human 25-hydroxyvitamin D3 1alpha-hydroxylase promoter.
15225751 2004 Role of residues 143 and 278 of the human nuclear Vitamin D receptor in the full-length and Delta165-215 deletion mutant.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14671156 2003 Increased expression of the 25-hydroxyvitamin D(3)-1alpha-hydroxylase gene in alveolar macrophages of patients with lung cancer.
12855575 2003 Regulation of 25-hydroxyvitamin D3-1 alpha-hydroxylase and production of 1 alpha,25-dihydroxyvitamin D3 by human dendritic cells.
12746631 2003 Association study of the vitamin D: 1alpha-hydroxylase (CYP1alpha) gene and type 2 diabetes mellitus in a Polish population.
12520522 2003 Conventional and tissue-specific inactivation of the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1).
12496369 2002 Targeted disruption of the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in ras-transformed keratinocytes demonstrates that locally produced 1alpha,25-dihydroxyvitamin D3 suppresses growth and induces differentiation in an autocrine fashion.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12386916 2002 Sequence variants in the human 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27B1) gene are not associated with prostate cancer risk.
12161526 2002 Expression and activity of 25-hydroxyvitamin D-1 alpha-hydroxylase are restricted in cultures of human syncytiotrophoblast cells from preeclamptic pregnancies.
12137802 2002 25-Hydroxyvitamin D-1alpha-hydroxylase activity is diminished in human prostate cancer cells and is enhanced by gene transfer.
12107095 2002 The ontogeny of 25-hydroxyvitamin D(3) 1alpha-hydroxylase expression in human placenta and decidua.
12050281 2002 25-hydroxyvitamin D(3)-1alpha-hydroxylase expression in normal and pathological parathyroid glands.
12050193 2002 Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.
10566658 1999 No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.
10518789 1999 Enzymatic properties of human 25-hydroxyvitamin D3 1alpha-hydroxylase coexpression with adrenodoxin and NADPH-adrenodoxin reductase in Escherichia coli.
10359826 1999 Molecular cloning, characterization, and promoter analysis of the human 25-hydroxyvitamin D3-1alpha-hydroxylase gene.
10320521 1999 Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.
9837822 1998 Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
9486994 1998 Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.
9428799 1997 Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha.
9415400 1997 Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1.
9344864 1997 Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase.
9333115 1997 The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus.
9295274 1997 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis.
9282826 1997 HIV-1 p17 and IFN-gamma both induce fructose 1,6-bisphosphatase.
1971995 1990 Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis.
1690216 1990 Tumor necrosis factor-alpha induces vitamin D-1-hydroxylase activity in normal human alveolar macrophages.
1662663 1991 The Sp1 transcription factor gene (SP1) and the 1,25-dihydroxyvitamin D3 receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7.