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1 to 25 of 58  Show
  1. 1
    "De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxylase."
    Cheng J.B., Motola D.L., Mangelsdorf D.J., Russell D.W.
    J. Biol. Chem. 278:38084-38093(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY.
    Category: Function, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 7 other entries.

  2. 2
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES.
    Category: Function, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  3. 3
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Category: Sequences.
    Tissue: Liver.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50492 other entries.

  4. 4
    "Human CYP2R1 gene 5'-flanking region."
    Tsuruga E., Bell N.H., Reddy S.V.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-8.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  5. 5
    "Structural analysis of CYP2R1 in complex with vitamin D3."
    Strushkevich N., Usanov S.A., Plotnikov A.N., Jones G., Park H.-W.
    J. Mol. Biol. 380:95-106(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 32-501 IN COMPLEX WITH VITAMIN D3 AND HEME, FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, SUBUNIT.
    Category: Function, Interaction, Structure.
    Source: UniProtKB/Swiss-Prot (reviewed).
  6. 6
    "Crystal structure of CYP2R1 in complexes with 1-alpha-hydroxy-vitamin D2 and with vitamin D2."
    Structural genomics consortium (SGC)
    Submitted (FEB-2009) to the PDB data bank
    Cited for: X-RAY CRYSTALLOGRAPHY (2.72 ANGSTROMS) OF 32-501 IN COMPLEXES WITH HEME; VITAMIN D2 AND 1-ALPHA-HYDROXY-VITAMIN D2.
    Category: Interaction, Structure.
    Source: UniProtKB/Swiss-Prot (reviewed).
  7. 7
    "Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase."
    Cheng J.B., Levine M.A., Bell N.H., Mangelsdorf D.J., Russell D.W.
    Proc. Natl. Acad. Sci. U.S.A. 101:7711-7715(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VDDR1B PRO-99.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  8. 8
    "CYP2R1 mutations impair generation of 25-hydroxyvitamin D and cause an atypical form of vitamin D deficiency."
    Thacher T.D., Fischer P.R., Singh R.J., Roizen J., Levine M.A.
    J. Clin. Endocrinol. Metab. 100:E1005-1013(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VDDR1B PRO-99, VARIANT ASN-242, CHARACTERIZATION OF VARIANT VDDR1B PRO-99, CHARACTERIZATION OF VARIANT ASN-242.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  9. 9
    "Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway."
    Wjst M., Altmuller J., Faus-Kessler T., Braig C., Bahnweg M., Andre E.
    Respir. Res. 7:60-60(2006) [PubMed] [Europe PMC] [Abstract]
    Annotation: Observational study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 20 other entries.

  10. 10
    "CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients."
    Ramos-Lopez E., Bruck P., Jansen T., Pfeilschifter J.M., Radeke H.H., Badenhoop K.
    J. Steroid Biochem. Mol. Biol. 103:807-810(2007) [PubMed] [Europe PMC] [Abstract]
    Annotation: 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 polymorphismImported.
    Source: GeneRIF:120227.

    This publication is mapped to 5 other entries.

  11. 11
    "CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans."
    Ramos-Lopez E., Bruck P., Jansen T., Herwig J., Badenhoop K.
    Diabetes Metab. Res. Rev. 23:631-636(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); Novel association of CYP2R1 polymorphisms in patients with type 1 diabetes and with circulating levels of vitamin D.Imported, Associated with IMMUNE: diabetes, type 1 Vitamin D.Imported.
    Source: GAD:146466, GeneRIF:120227.

    This publication is mapped to 1 other entry.

  12. 12
    "Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms."
    Ramos-Lopez E., Kahles H., Weber S., Kukic A., Penna-Martinez M., Badenhoop K., Louwen F.
    Diabetes Obes Metab 10:683-685(2008) [PubMed] [Europe PMC] [Abstract]
    Annotation: Observational study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 4 other entries.

  13. 13
    "A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy."
    Martin R.J., McKnight A.J., Patterson C.C., Sadlier D.M., Maxwell A.P., Maxwell A., McKnight A.J., Savage D.A., Walker J., Viberti G.C., Boulton A.J., Marshall S., Demaine A., Millward B.A., Bain S.C.
    Nephrol. Dial. Transplant. 25:497-503(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: No significant differences were observed in genotype or allele frequencies between case and control groups for VDR CYP27B1 or CYP2R1 SNPs; Observational study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 15 other entries.

  14. 14
    "Asthma and genes encoding components of the vitamin D pathway."
    Bosse Y., Lemire M., Poon A.H., Daley D., He J.Q., Sandford A., White J.H., James A.L., Musk A.W., Palmer L.J., Raby B.A., Weiss S.T., Kozyrskyj A.L., Becker A., Hudson T.J., Laprise C.
    Respir. Res. 10:98-98(2009) [PubMed] [Europe PMC] [Abstract]
    Annotation: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 35 other entries.

  15. 15
    "Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis."
    Simon K.C., Munger K.L., Xing Yang, Ascherio A.
    Mult. Scler. 16:133-138(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 19 other entries.

  16. 16
    Annotation: Observational study meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 26 other entries.

  17. 17
    Annotation: Observational study meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 22 other entries.

  18. 18
    "Cytochromes P450 are essential players in the vitamin D signaling system."
    Schuster I.
    Biochim. Biophys. Acta 1814:186-199(2011) [PubMed] [Europe PMC] [Abstract]
    Annotation: 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.Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 4 other entries.

  19. 19
    "High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density."
    Giroux S., Elfassihi L., Clement V., Bussieres J., Bureau A., Cole D.E., Rousseau F.
    Bone 47:975-981(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: Observational study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 71 other entries.

  20. 20
    "Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects."
    Bu F.X., Armas L., Lappe J., Zhou Y., Gao G., Wang H.W., Recker R., Zhao L.J.
    Hum. Genet. 128:549-556(2010) [PubMed] [Europe PMC] [Abstract]
    Annotation: The results suggest that the CYP2R1 and GC genes may contribute to the variation of serum 25(OH)D levels in healthy populations; Observational study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 15 other entries.

  21. 21
    "Bone mineral density and testicular failure: evidence for a role of vitamin D 25-hydroxylase in human testis."
    Foresta C., Strapazzon G., De Toni L., Perilli L., Di Mambro A., Muciaccia B., Sartori L., Selice R.
    J. Clin. Endocrinol. Metab. 96:E646-52(2011) [PubMed] [Europe PMC] [Abstract]
    Annotation: We found a lower gene and protein expression of CYP2R1 in samples with hypospermatogenesis and Sertoli-cell-only syndrome.Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 1 other entry.

  22. 22
    "Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes."
    Cooper J.D., Smyth D.J., Walker N.M., Stevens H., Burren O.S., Wallace C., Greissl C., Ramos-Lopez E., Hypponen E., Dunger D.B., Spector T.D., Ouwehand W.H., Wang T.J., Badenhoop K., Todd J.A.
    Diabetes 60:1624-1631(2011) [PubMed] [Europe PMC] [Abstract]
    Annotation: Study confirms that variation in CYP2R1 is associated with predisposition to autoimmune disease type 1 diabetes.Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 18 other entries.

  23. 23
    "Common genetic variation in vitamin D metabolism is associated with liver stiffness."
    Grunhage F., Hochrath K., Krawczyk M., Hoblinger A., Obermayer-Pietsch B., Geisel J., Trauner M., Sauerbruch T., Lammert F.
    Hepatology 56:1883-1891(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: Our study is the first to confirm the association of variants in DHCR7 and CYP2R1 with 25(OH)-vitamin D levels in patients with chronic liver diseases.Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 21 other entries.

  24. 24
    "Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore."
    Robien K., Butler L.M., Wang R., Beckman K.B., Walek D., Koh W.P., Yuan J.M.
    Br. J. Nutr. 109:493-502(2013) [PubMed] [Europe PMC] [Abstract]
    Annotation: genetic association study in population in Singapore: Data suggest that diet and SNPs in CYP2R1 CYP3A4 (cytochrome P450 subfamily 3A polypeptide 4) and GC/VDBP (group-specific component) interact to contribute to vitamin D deficiency.Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 8 other entries.

  25. 25
    "The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children."
    Zhang Y., Wang X., Liu Y., Qu H., Qu S., Wang W., Ren L.
    Swiss Med Wkly 142:w13636-w13636(2012) [PubMed] [Europe PMC] [Abstract]
    Annotation: Our study found that variant genotypes of single nucleotide polymorphisms in the CYP2R1 gene rs10766197 rs12794714 rs10741657 rs2060793 and rs1562902 were all significantly associated with plasma 25-hydroxyvitamin D levels.Imported.
    Source: GeneRIF:120227.

    This publication is mapped to 21 other entries.

1 to 25 of 58  Show