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Year Number of Results
2019 9
2020 15
2021 13
2022 9
2023 16
2024 0

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56 results

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Page 1
Vitamin D and Genetic Susceptibility to Multiple Sclerosis.
Scazzone C, Agnello L, Bivona G, Lo Sasso B, Ciaccio M. Scazzone C, et al. Biochem Genet. 2021 Feb;59(1):1-30. doi: 10.1007/s10528-020-10010-1. Epub 2020 Nov 7. Biochem Genet. 2021. PMID: 33159645 Review.
Other vitamin D-related genes (including DHCR7/NADSYN1, CYP2R1, CYP27A1, CYP3A4, CYP27B1, CYP24A1, Megalin-DAB2-Cubilin, FGF-23, and Klotho) have been less investigated and achieved more conflicting evidence. ...
Other vitamin D-related genes (including DHCR7/NADSYN1, CYP2R1, CYP27A1, CYP3A4, CYP27B1, CYP24A1, Megalin-DAB2-Cubilin, FGF-23, and …
Vitamin D deficiency and genetic polymorphisms of vitamin D-associated genes in Parkinson's disease.
Pal R, Choudhury S, Kumar H, Dey S, Das N, Basu BR. Pal R, et al. Eur J Neurosci. 2023 Sep;58(5):3362-3377. doi: 10.1111/ejn.16098. Epub 2023 Jul 24. Eur J Neurosci. 2023. PMID: 37485791 Review.
Specifically, explicating the effect of VDD and genetic polymorphisms of vitamin D-associated genes in PD, like VDR (vitamin D receptor) or GC (vitamin D binding protein) may aid the process along with polymorphisms of vitamin D metabolising genes (e.g., CYP2R1 and CYP27A1
Specifically, explicating the effect of VDD and genetic polymorphisms of vitamin D-associated genes in PD, like VDR (vitamin D receptor) or …
A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
Wu MC, Chang YY, Lan MY, Chen YF, Tai CH, Lin YF, Tsai SF, Chen PL, Lin CH. Wu MC, et al. J Mol Diagn. 2022 Mar;24(3):262-273. doi: 10.1016/j.jmoldx.2021.12.003. Epub 2022 Jan 15. J Mol Diagn. 2022. PMID: 35041927 Free article.
Genetic causes were identified from single cases in TOR1A, TUBB4A, THAP1, ATP1A3, ANO3, GNAL, KMT2B, SLC6A3, ADCY5, CYP27A1, PANK2, C19orf12, and SPG11. The whole-genome sequencing analysis identified a novel intragenic deletion in OPHN1 in a multiplex family with X-linked …
Genetic causes were identified from single cases in TOR1A, TUBB4A, THAP1, ATP1A3, ANO3, GNAL, KMT2B, SLC6A3, ADCY5, CYP27A1, PANK2, C …
Identification of prognostic biomarkers of breast cancer based on the immune-related gene module.
Wang R, Zeng H, Xiao X, Zheng J, Ke N, Xie W, Lin Q, Zhang H. Wang R, et al. Autoimmunity. 2023 Dec;56(1):2244695. doi: 10.1080/08916934.2023.2244695. Autoimmunity. 2023. PMID: 37584152 Free article.
In this study, cell immune-related gene modules in TCGA-BRCA were successfully excavated, and a five-gene (TNFRSF14, NFKBIA, DLG3, IRF2, and CYP27A1) prognostic model was established. The prognostic model could effectively forecast the prognosis and survival rate of BC pat …
In this study, cell immune-related gene modules in TCGA-BRCA were successfully excavated, and a five-gene (TNFRSF14, NFKBIA, DLG3, IRF2, and …
Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.
Di Taranto MD, Fortunato G. Di Taranto MD, et al. Int J Mol Sci. 2023 Feb 6;24(4):3224. doi: 10.3390/ijms24043224. Int J Mol Sci. 2023. PMID: 36834635 Free PMC article. Review.
In addition, variants in genes causing other dyslipidemias showing phenotypes overlapping with FH may mimic FH in patients without causative variants (FH-phenocopies; ABCG5, ABCG8, CYP27A1 and LIPA genes) or act as phenotype modifiers in patients with a pathogenic variant …
In addition, variants in genes causing other dyslipidemias showing phenotypes overlapping with FH may mimic FH in patients without causative …
Vitamin D endocrine system in breast cancer.
Linowiecka K, Wolnicka-Głubisz A, Brożyna AA. Linowiecka K, et al. Acta Biochim Pol. 2021 Nov 15;68(4):489-497. doi: 10.18388/abp.2020_5961. Acta Biochim Pol. 2021. PMID: 34851599 Free article. Review.
In order to exert its functions, vitamin D has to be hydroxylated (via CYP27A1 and CYP27B1 hydroxylases), which is followed by its interaction with the vitamin D receptor (VDR) or retinoic acid-related orphan receptors alpha or gamma (RORalpha and RORgamma). ...
In order to exert its functions, vitamin D has to be hydroxylated (via CYP27A1 and CYP27B1 hydroxylases), which is followed by its in …
TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1.
Wang X, Shi J, Huang M, Chen J, Dan J, Tang Y, Guo Z, He X, Zhao Q. Wang X, et al. Cell Death Dis. 2023 Mar 6;14(3):179. doi: 10.1038/s41419-023-05687-2. Cell Death Dis. 2023. PMID: 36872411 Free PMC article.
This result was confirmed in a mouse xenograft tumor model. Mechanistically, TUBB2B induces the expression of CYP27A1, an enzyme responsible for the conversion of cholesterol to 27-hydroxycholesterol, which leads to the up-regulation of cholesterol and the progression of H …
This result was confirmed in a mouse xenograft tumor model. Mechanistically, TUBB2B induces the expression of CYP27A1, an enzyme resp …
Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.
Lee CW, Lee JJ, Lee YF, Wang PW, Pan TL, Chang WN, Tsai MH. Lee CW, et al. J Clin Lipidol. 2019 Nov-Dec;13(6):954-959.e1. doi: 10.1016/j.jacl.2019.10.001. Epub 2019 Oct 10. J Clin Lipidol. 2019. PMID: 31706903 Review.
OBJECTIVES: We report a new CTX family with a novel mutation in the CYP27A1 gene and analyze the clinical and molecular genetic features of CTX in Taiwan. ...Except for one CTX patient who had an SI score of 100, the SI scores ranged from 300 to 400 before the study of the …
OBJECTIVES: We report a new CTX family with a novel mutation in the CYP27A1 gene and analyze the clinical and molecular genetic featu …
CYP2R1 and CYP27A1 genes: An in silico approach to identify the deleterious mutations, impact on structure and their differential expression in disease conditions.
Sunkar S, Neeharika D. Sunkar S, et al. Genomics. 2020 Sep;112(5):3677-3686. doi: 10.1016/j.ygeno.2020.04.017. Epub 2020 Apr 25. Genomics. 2020. PMID: 32344004 Free article.
Mutations in CYP2R1 and CYP27A1 involved in the conversion of Cholecalciferol into Calcidiol were associated with the impaired 25-hydroxylase activity therefore affecting the Vitamin D metabolism. ...The above analysis predicted 11/260 and 35/489 non-synonymous mutations t …
Mutations in CYP2R1 and CYP27A1 involved in the conversion of Cholecalciferol into Calcidiol were associated with the impaired 25-hyd …
Transcriptomic analysis identifies CYP27A1 as a diagnostic marker for the prognosis and immunity in lung adenocarcinoma.
Yin Y, He M, Huang Y, Xie X. Yin Y, et al. BMC Immunol. 2023 Oct 10;24(1):37. doi: 10.1186/s12865-023-00572-1. BMC Immunol. 2023. PMID: 37817081 Free PMC article.
CYP27A1's expression level was validated by qRT-PCR analysis. RESULTS: CYP27A1 expression was decreased in LUAD. Reduced CYP27A1 expression was linked to unfavorable prognosis in LUAD. Univariate and multivariate analyses indicated that CYP27A1 was an
CYP27A1's expression level was validated by qRT-PCR analysis. RESULTS: CYP27A1 expression was decreased in LUAD. Reduced CY
56 results