| 1 | CYP27B1, FDX1, FDXR
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| Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin.
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| Zalewski A, Ma NS, Legeza B, Renthal N, Flück CE, Pandey AV.
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| J Clin Endocrinol Metab 101(9):3409-18. doi: 10.1210/jc.2016-2124. Epub 2016 Jul 11.
2016
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| 2 | CYP24A1, CYP27B1
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| Regulation of CYP27B1 and CYP24A1 gene expression by recombinant pro-inflammatory cytokines in cultured human trophoblasts.
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| Noyola-Martínez N, Díaz L, Zaga-Clavellina V, Avila E, Halhali A, Larrea F, Barrera D.
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| J Steroid Biochem Mol Biol Steroid Biochem Mol Biol. 2013 Dec 17. pii: S0960-0760(13)00279-3. doi: 10.1016/j.jsbmb.2013.12.007. [Epub ahead of print]
2013
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| 3 | AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
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| The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
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| Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
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| Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
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| 4 | CYP27B1, PDDR
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| Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.
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| Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA.
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| J Clin Endocrinol Metab 92(8):3177-82. Epub 2007 May 8. 2007
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| 5 | CYP27B1
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| Splice variants of the CYP27b1 gene and the regulation of 1,25-dihydroxyvitamin D3 production.
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| Wu S, Ren S, Nguyen L, Adams JS, Hewison M.
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| Endocrinology 148(7):3410-8. Epub 2007 Mar 29.
2007
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| 6 | CYP27B1, RDMP1
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| Genetic models show that parathyroid hormone and 1,25-dihydroxyvitamin D3 play distinct and synergistic roles in postnatal mineral ion homeostasis and skeletal development.
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| Xue Y, Karaplis AC, Hendy GN, Goltzman D, Miao D.
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| Hum Mol Genet 14(11):1515-28. Epub 2005 Apr 20. 2005
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| 7 | CYP27B1
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| Extrarenal expression of 25-hydroxyvitamin d(3)-1 alpha-hydroxylase.
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| Zehnder D, Bland R, Williams MC, McNinch RW, Howie AJ, Stewart PM, Hewison M.
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| J Clin Endocrinol Metab 86(2):888-94. 2001
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| 8 | CYP27B1
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| Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction.
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| Panda DK, Miao D, Tremblay ML, Sirois J, Farookhi R, Hendy GN, Goltzman D.
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| Proc Natl Acad Sci U S A 98(13):7498-503. 2001
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| 9 | PDDR, CYP27B1
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| Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX).
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| Sawada N, Sakaki T, Kitanaka S, Kato S, Inouye K.
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| Eur J Biochem 268(24):6607-15. 2001
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| 10 | CYP27B1
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| Molecular cloning, characterization, and promoter analysis of the human 25-hydroxyvitamin D3-1alpha-hydroxylase gene.
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| Kong XF, et al.
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| Proc Natl Acad Sci U S A 96(12):6988-93. 1999
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| 11 | CYP27B1, PKIA
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| Genomic cloning, structure, and regulatory elements of the 1 alpha, 25(OH)2D3 down-regulated gene for cyclic AMP-dependent protein kinase inhibitor.
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| Rowland-Goldsmith MA, Holmquist B, Henry HL.
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| Biochim Biophys Acta 1446(3):414-8 1999
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| 12 | CYP27B1, PDDR
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| Genetic mutation in the human 25-hydroxyvitamin D3 1alpha-hydroxylase gene causes vitamin D-dependent rickets type I.
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| Kato S.
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| Mol Cell Endocrinol 156(1-2):7-12. Review 1999
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| 13 | CYP27B1, LRP2
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| An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3.
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| Nykjaer A, Dragun D, Walther D, Vorum H, Jacobsen C, Herz J, Melsen F, Christensen EI, Willnow TE.
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| Cell 96(4):507-15. 1999
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| 14 | CYP27B1, PDDR
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| Inactivating mutations in the 25-hydroxyvitamin D, 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.
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| Kitanaka S, Takeyama K, Murayama A, Sato T, Okumura K, Nogami M, Hasegawa Y, Niimi H, Yanagisawa J, Tanaka T, Kato S.
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| N Engl J Med 338(10):653-61. 1998
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| 15 | CYP27B1, PDDR
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| Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1.
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| Yoshida T, Monkawa T, Tenenhouse HS, Goodyer P, Shinki T, Suda T, Wakino S, Hayashi M, Saruta T.
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| Kidney Int 54 : 1437-1443. 1998
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| 16 | CYP27B1, PDDR
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| Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.
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| Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, Miller WL.
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| Am J Hum Genet 63 : 1694-1702. 1998
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| 17 | CYP24A1, CYP26A1, CYP27A1, CYP27B1, CYP2A, CYP2@, CYP2A13, CYP2A6, CYP2A7, CYP2A7P1, CYP2B, CYP2B6, CYP2B7P1, CYP2C@, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2D@, CYP2D6, CYP2D7P1, CYP2D7P2, CYP2D8P1, CYP2D8P2, CYP2E1, CYP2F1, CYP2F1P, CYP2G1P, CYP2G2P, CYP2J2, CYP2S1, CYP2T2P, CYP2T3P
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| Molecular genetics of the human cytochrome P450 monooxygenase superfamily.
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| Smith G, Stubbins MJ, Harries LW, Wolf CR.
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| Xenobiotica 28(12):1129-65. Review. No abstract available. 1998
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| 18 | CYP27B1
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| Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha.
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| Fu GK, Portale AA, Miller WL.
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| DNA Cell Biol 16(12):1499-507. 1997
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| 19 | CYP27B1, PDDR
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| Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1.
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| Fu GK, Lin D, Zhang MY, Bikle DD, Shackleton CH, Miller WL, Portale AA.
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| Mol Endocrinol 11(13):1961-70. 1997
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| 20 | CYP27B1
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| Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase.
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| Monkawa T, Yoshida T, Wakino S, Shinki T, Anazawa H, Deluca HF, Suda T, Hayashi M, Saruta T.
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| Biochem Biophys Res Commun 239(2):527-33. 1997
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| 21 | CYP27B1
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| 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis.
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| Takeyama K, et al.
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| Science 277(5333):1827-30. 1997
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| 22 | CYP27B1, PDDR
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| The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus.
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| St-Arnaud R, et al.
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| J Bone Miner Res 12(10):1552-9 1997
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| 23 | CYP27B1
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| 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis.
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| Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S.
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| Science 277(5333):1827-30.
1997
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