Recombinant Human 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (CYP27B1), partial

1. These results suggested CYP28B1 gene polymorphisms may be independently associated with the efficacy of IFN in HBeAg-positive patients. PMID: 29457277
2. Expression analysis showed significant CYP27B1 upregulation in epileptic male patients aged between 30 and 40. PMID: 29549592
3. We showed that the AA genotype of VDR polymorphism is associated with Familial Mediterranean fever in males but not in females PMID: 28926322
4. We observed associations between VDR, GC, and CYP27B1 variants and maternal 25-hydroxyvitamin D concentration. Our results provide additional support for a possible role of genetic variation in vitamin D metabolism genes on vitamin D status during pregnancy. PMID: 29175129
5. detected in chondrocytes of healthy-looking knee cartilage in osteoarthritis patients PMID: 29110708
6. This Mendelian randomization study provides no evidence that circulating 25OHD concentration plays a major role in the development of PD in individuals of European ancestry. PMID: 28594127
7. in teens with positive recto-vaginal group B streptococcus colonization, placental mRNA expression of CYP27B1 is lower compared to those who tested negative for this infection PMID: 28622535
8. primary human osteoblasts in the presence of high calcium concentrations increase their CYP27B1 mRNA levels by 1.3-fold PMID: 27016371
9. The multiple sclerosis-associated regulatory variant rs10877013 affects expression of CYP27B1 and VDR under inflammatory or vitamin D stimuli. PMID: 26466946
10. Vascular Calcification Induced by Chronic Kidney Disease Is Mediated by an Increase of 1alpha-Hydroxylase Expression in Vascular Smooth Muscle Cells PMID: 27074284
11. IL-13 suppressed cyp27b1 expression in CD14(+) cells. IL-13 increased expression of miR-19a in CD14(+) cells. IL-13 suppresses cyp27b1 expression in peripheral CD14(+) cells via up regulating miR-19a expression. PMID: 27381199
12. Women with Recurrent Miscarriage have a lower level of CYP27B1 expression in chorionic villi and decidua compared with normal pregnant women, suggesting that reduced CYP27B1 expression may be associated with Recurrent Miscarriage. PMID: 28033387
13. Mutation in CYP27B1 is associated with Vitamin D-Dependent Rickets Type 1. PMID: 27399352
14. Male placental cotyledons showed reduced basal CYP27B1 and cathelicidin gene expression compared to females. PMID: 27210415
15. Expression of CYP27B1 was in spermatozoa from healthy controls compared with infertile men, however the percentage of spermatozoa expressing CYP27B1 was not significantly higher. PMID: 27977320
16. A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene. PMID: 27287609
17. findings do not support a role of an independent effect of the investigated vitamin D-related gene variants, VDBP and CYP27B1, in the risk of Multiple Sclerosis PMID: 27904983
18. In Sjogren's syndrome (SS) patients, EULAR Sjogren's syndrome disease activity index (ESSDAI) is negatively associated with serum levels of 25(OH)-D3 and positively associated with BAFF. PMID: 28074193
19. We found that the C allele was associated with lowered Multiple Sclerosis risk in Caucasians. Whether the association holds for other ethnic groups needs further investigation. PMID: 27175669
20. Reduced sinonasal levels of 1alpha-hydroxylase are associated with worse quality of life in chronic rhinosinusitis with nasal polyps. PMID: 26575398
21. This study reveals no association between CYP27B1 polymorphisms and blood levels of 1alpha,25-hydroxyvitamin D. PMID: 26241700
22. this study indicates rs8176345 in CYP27B1 gene is significantly correlated with erlotinib-induced skin rash in patients with advanced non-small cell lung cancer PMID: 26607259
23. Increased CYP27B1 expression and local duodenal 1,25(OH)2D3 production during puberty may be a metabolic adaptation that promotes dietary calcium absorption. PMID: 26291067
24. 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] PMID: 25284246
25. The CYP27B1+2838 polymorphism may be useful as pretreatment factor to selection of patients with higher probability of response to therapy. PMID: 25060765
26. LNCaP cells were stably transfected with CYP27B. PMID: 26124321
27. 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. PMID: 25501638
28. Case Report: novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) causing vitamin D-dependent rickets type 1. PMID: 25371233
29. Variants of CYP27B1 are associated with both multiple sclerosis and neuromyelitis optica patients in Han Chinese population. PMID: 25542806
30. 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. PMID: 24158849
31. The data do not support a major role for rare CYP27B1 variants in the etiology of multiple sclerosis. PMID: 23886824
32. CYP27B1 activity in monocytes is higher among patients with active tuberculosis than those with frequent TB contact. PMID: 24371450
33. Results show that upregulated gene expression of CYP27B1 may lead to misbalance of vitamin D metabolites and may contribute to the pathogenesis of RCC PMID: 24245571
34. 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. PMID: 24471562
35. ocular barrier epithelial cells express the machinery for vitamin D3 and can produce 1,25(OH)2D3. PMID: 24576880
36. Thias study providing additional support for CYP27B1 p.R389H in the pathogenicity of multiple sclerosis. PMID: 24308945
37. The rs703842 A>G polymorphism of CYP27B1 may play a role in HLA-B27-associated uveitis. PMID: 23614044
38. 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] PMID: 23894780
39. The results of this study suggested that no evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis. PMID: 23444327
40. These results provide evidence against a major role for CYP27B1 mutations in multiple sclerosis. PMID: 23483640
41. This study evaluatee the associations between vitamin D receptor, CYP27B1 and CYP24A1 gene polymorphisms with oral cancer risk and survival. PMID: 22612324
42. 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. PMID: 23149444
43. 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. PMID: 22995334
44. 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. PMID: 23063903
45. genetic polymorphism is associated with the frequency of dendritic cell subsets in patients with type 1 diabetes PMID: 23286944
46. This study demonistrated that CYP27B1 mRNA increase in white matter of brain with patient in multiple sclerosis. PMID: 23334593
47. IL-13 induces vitamin D-dependent hCAP18/LL-37 expression in bronchial epithelial cells most likely by increasing CYP27B1. PMID: 23045480
48. investigated CYP27B1 mutation in seven patients from four separate families and characterize the genotype-phenotype correlation PMID: 22443290
49. 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. PMID: 22963605
50. 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. PMID: 22588163

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HGNC: 2606

OMIM: 264700

KEGG: hsa:1594

STRING: 9606.ENSP00000228606

UniGene: Hs.524528