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Year Number of Results
1977 1
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1994 3
1995 6
1996 2
1997 7
1998 9
1999 13
2000 11
2001 14
2002 20
2003 36
2004 30
2005 20
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2008 28
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1,050 results

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Page 1
CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer.
Latacz M, Snarska J, Kostyra E, Wroński K, Fiedorowicz E, Savelkoul H, Jarmołowska B, Płomiński J, Grzybowski R, Cieślińska A. Latacz M, et al. Nutrients. 2020 Apr 3;12(4):998. doi: 10.3390/nu12040998. Nutrients. 2020. PMID: 32260235 Free PMC article.
Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. ...In this study, we …
Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression si …
Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies.
Ruiz-Ballesteros AI, Meza-Meza MR, Vizmanos-Lamotte B, Parra-Rojas I, de la Cruz-Mosso U. Ruiz-Ballesteros AI, et al. Int J Mol Sci. 2020 Dec 17;21(24):9626. doi: 10.3390/ijms21249626. Int J Mol Sci. 2020. PMID: 33348854 Free PMC article. Review.
The 90% of genetic variability takes place in the form of single nucleotide polymorphisms (SNPs), and SNPs in genes related to vitamin D metabolism have been linked to influence the calcidiol serum levels, such as in the vitamin D binding protein (VDBP; rs2282679 GC), 25-h …
The 90% of genetic variability takes place in the form of single nucleotide polymorphisms (SNPs), and SNPs in genes related to vitami …
Single Nucleotide Polymorphisms in 25-Hydroxyvitamin D3 1-Alpha-Hydroxylase (CYP27B1) Gene: The Risk of Malignant Tumors and Other Chronic Diseases.
Latacz M, Snarska J, Kostyra E, Fiedorowicz E, Savelkoul HF, Grzybowski R, Cieślińska A. Latacz M, et al. Nutrients. 2020 Mar 18;12(3):801. doi: 10.3390/nu12030801. Nutrients. 2020. PMID: 32197412 Free PMC article. Review.
Modern literature lacks complete information on polymorphisms in CYP27B1, the only enzyme capable of vitamin D activation. This review presents gathered data that relate to genetic variants in CYP27B1 gene in correlation to multiple diseases, mostly concernin …
Modern literature lacks complete information on polymorphisms in CYP27B1, the only enzyme capable of vitamin D activation. This revie …
Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.
Demir K, Kattan WE, Zou M, Durmaz E, BinEssa H, Nalbantoğlu Ö, Al-Rijjal RA, Meyer B, Özkan B, Shi Y. Demir K, et al. PLoS One. 2015 Jul 1;10(7):e0131376. doi: 10.1371/journal.pone.0131376. eCollection 2015. PLoS One. 2015. PMID: 26132292 Free PMC article.
The CYP27B1 gene encodes 25-hydroxyvitamin D-1alpha-hydroxylase. Mutations of this gene cause vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700), which is a rare autosomal recessive disorder. ...Homozygous mutations in the CYP27B1
The CYP27B1 gene encodes 25-hydroxyvitamin D-1alpha-hydroxylase. Mutations of this gene cause vitamin D-d …
CYP27B1 as an instrument gene to investigate the causal relationship between vitamin D deficiency and obesity: a family-based study.
Yu S, Feng Y, Qu C, Huo W, Mao Z, Wang C, Li W, Li X. Yu S, et al. Eur J Clin Nutr. 2020 May;74(5):806-810. doi: 10.1038/s41430-020-0594-7. Epub 2020 Mar 3. Eur J Clin Nutr. 2020. PMID: 32127688
Family-based associations of rs10877012 and rs4646536 in CYP27B1 with vitamin D deficiency and obesity were investigated. Serum 25(OH)D3 concentration <20 mug/L was defined as vitamin D deficiency. ...Both rs10877012 and rs4646536 were associated with serum 25(OH …
Family-based associations of rs10877012 and rs4646536 in CYP27B1 with vitamin D deficiency and obesity were investigated. Serum 25(OH …
Association of Vitamin D Pathway Gene CYP27B1 and CYP2R1 Polymorphisms with Autoimmune Endocrine Disorders: A Meta-Analysis.
Ma X, Xie Z, Qin J, Luo S, Zhou Z. Ma X, et al. J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa525. doi: 10.1210/clinem/dgaa525. J Clin Endocrinol Metab. 2020. PMID: 32915988
BACKGROUND: Studies on organ-specific autoimmune endocrine disorders showed correlations between disease risks and vitamin D pathways gene variants, such as CYP27B1 rs10877012 and rs4646536, or CYP2R1 rs10741657 single nucleotide polymorphisms. However, previous wor …
BACKGROUND: Studies on organ-specific autoimmune endocrine disorders showed correlations between disease risks and vitamin D pathways gen
Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.
Al Homyani DK, Alhemaiani SK. Al Homyani DK, et al. Front Endocrinol (Lausanne). 2022 May 18;13:862022. doi: 10.3389/fendo.2022.862022. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35663328 Free PMC article.
The diagnosis was reached by anthropometric measurement, bone profile, and radiological studies, then confirmed by genetic testing, which revealed a homozygous pathogenic variant in the CYP27B1 gene. He was treated with Vitamin-D (alfacalcidol) and oral calcium. CON …
The diagnosis was reached by anthropometric measurement, bone profile, and radiological studies, then confirmed by genetic testing, which re …
Down-regulation of CYP27B1 gene expression in Iranian patients with relapsing-remitting multiple sclerosis.
Rezaie Z, Taheri M, Kohan L, Sayad A. Rezaie Z, et al. Hum Antibodies. 2016;24(3-4):71-76. doi: 10.3233/HAB-160297. Hum Antibodies. 2016. PMID: 27792005
Quantitative RT-PCR was adopted to measure the expression level of CYP27B1 gene. RESULTS: The expression level of CYP27B1gene was significantly lower in the RRMS patients than their normal counterparts (P value = 0.04). Also, the RRMS females participating had a sig …
Quantitative RT-PCR was adopted to measure the expression level of CYP27B1 gene. RESULTS: The expression level of CYP27B1gene …
Molecular insights into mineralotropic hormone inter-regulation.
Pike JW, Lee SM, Meyer MB. Pike JW, et al. Front Endocrinol (Lausanne). 2023 Jun 27;14:1213361. doi: 10.3389/fendo.2023.1213361. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37441497 Free PMC article. Review.
We review here our molecular understanding of how PTH induces Cyp27b1 expression, the gene encoding the enzyme responsible for the synthesis of 1,25(OH)(2)D(3). ...The negative actions of both FGF23 and 1,25(OH)(2)D(3) appear to suppress Cyp27b1 expression by …
We review here our molecular understanding of how PTH induces Cyp27b1 expression, the gene encoding the enzyme responsible for …
CYP27B1 null mice with LacZreporter gene display no 25-hydroxyvitamin D3-1alpha-hydroxylase promoter activity in the skin.
Vanhooke JL, Prahl JM, Kimmel-Jehan C, Mendelsohn M, Danielson EW, Healy KD, DeLuca HF. Vanhooke JL, et al. Proc Natl Acad Sci U S A. 2006 Jan 3;103(1):75-80. doi: 10.1073/pnas.0509734103. Epub 2005 Dec 21. Proc Natl Acad Sci U S A. 2006. PMID: 16371465 Free PMC article.
The hormonally active form of vitamin D(3),1alpha,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)], is synthesized in the kidney through a tightly regulated reaction catalyzed by 25-hydroxyvitamin D(3)-1alpha-hydroxylase (1alpha-hydroxylase), the product of the CYP27B1
The hormonally active form of vitamin D(3),1alpha,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)], is synthesized in the kidney through a tightly …
1,050 results