1 | DHCR7, INSIG2, iNSIG1
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| Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation.
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| Suzuki A, Ogata K, Yoshioka H, Shim J, Wassif CA, Porter FD, Iwata J.
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| Bone Res 8:1. doi: 10.1038/s41413-019-0078-3. eCollection 2020.
2020
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2 | DHCR7
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| Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer.
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| Carvalho IS, Gonçalves CI, Almeida JT, Azevedo T, Martins T, Rodrigues FJ, Lemos MC.
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| Genes (Basel) 10(8). pii: E572. doi: 10.3390/genes10080572.
2019
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3 | DHCR24, DHCR7
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| Subcellular localization of sterol biosynthesis enzymes.
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| Koczok K, Gurumurthy CB, Balogh I, Korade Z, Mirnics K.
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| J Mol Histol 50(1):63-73. doi: 10.1007/s10735-018-9807-y. Epub 2018 Dec 8.
2019
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4 | DHCR7, SLOS
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| Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
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| Peng Y, Myers R, Zhang W, Alexov E.
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| Int J Mol Sci 19(1). pii: E141. doi: 10.3390/ijms19010141.
2018
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5 | DHCR7
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| Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 Expression.
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| Xiao WL, Zhang DZ, Xu H, Zhuang CZ.
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| Biomed Res Int 2016:7532714. doi: 10.1155/2016/7532714. Epub 2016 Mar 15.
2016
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6 | DHCR7
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| Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.
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| Prabhu AV, Luu W, Sharpe LJ, Brown AJ.
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| J Biol Chem 291(16):8363-73. doi: 10.1074/jbc.M115.699546. Epub 2016 Feb 17.
2016
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7 | DHCR7, SLOS
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| Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
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| Blassberg R, Macrae JI, Briscoe J, Jacob J.
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| Hum Mol Genet 25(4):693-705. doi: 10.1093/hmg/ddv507. Epub 2015 Dec 18.
2016
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8 | DHCR7, NADSYN1
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| Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes.
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| Xu X, Mao J, Zhang M, Liu H, Li H, Lei H, Han L, Gao M.
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| Med Sci Monit 21:1960-8. doi: 10.12659/MSM.894793.
2015
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9 | DHCR24, DHCR7
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| The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.
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| Luu W, Hart-Smith G, Sharpe LJ, Brown AJ.
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| J Lipid Res 56(4):888-97. doi: 10.1194/jlr.M056986. Epub 2015 Jan 31. Erratum in: J Lipid Res. 2015 May;56(5):1079.
2015
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10 | DHCR7, NADSYN1
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| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence.
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| Abu El Maaty MA, Hassanein SI, Sleem HM, Gad MZ.
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| J Nutrigenet Nutrigenomics 6(6):327-35. doi: 10.1159/000360422. Epub 2014 Mar 15.
2013
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11 | DHCR7
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| Enrichment of vitamin D response elements in RA-associated loci supports a role for vitamin D in the pathogenesis of RA.
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| Yarwood A, Martin P, Bowes J, Lunt M, Worthington J, Barton A, Eyre S.
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| Genes Immun 14(5):325-9. doi: 10.1038/gene.2013.23. Epub 2013 May 2.
2013
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12 | DHCR7
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| DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.
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| Xu L, Mirnics K, Bowman AB, Liu W, Da J, Porter NA, Korade Z.
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| Neurobiol Dis 45(3):923-9. doi: 10.1016/j.nbd.2011.12.011. Epub 2011 Dec 11.
2012
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13 | DHCR7
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| 7-Dehydrocholesterol reductase activity is independent of cytochrome P450 reductase.
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| Zou L, Li L, Porter TD.
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| J Steroid Biochem Mol Biol 127(3-5):435-8. doi: 10.1016/j.jsbmb.2011.06.011. Epub 2011 Jul 5.
2011
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14 | DHCR7, NADSYN1
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| Genome-wide association study of circulating vitamin D levels.
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| Ahn J, Yu K, Stolzenberg-Solomon R, Simon KC, McCullough ML, Gallicchio L, Jacobs EJ, Ascherio A, Helzlsouer K, Jacobs KB, Li Q, Weinstein SJ, Purdue M, Virtamo J, Horst R, Wheeler W, Chanock S, Hunter DJ, Hayes RB, Kraft P, Albanes D.
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| Hum Mol Genet 19(13):2739-45. doi: 10.1093/hmg/ddq155. Epub 2010 Apr 23.
2010
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15 | DHCR7
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| Molecular consequences of altered neuronal cholesterol biosynthesis.
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| Korade Z, Kenworthy AK, Mirnics K.
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| J Neurosci Res 87(4):866-75. doi: 10.1002/jnr.21917.
2009
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16 | SLOS, DHCR7
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| Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome.
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| Jenkins KT, Merkens LS, Tubb MR, Myatt L, Davidson WS, Steiner RD, Woollett LA.
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| Mol Genet Metab 94(2):240-7. Epub 2008 Mar 17. 2008
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17 | DHCR7, SLOS
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| DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?
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| Nowaczyk MJ, Waye JS, Douketis JD.
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| Am J Med Genet A 140(19):2057-62. 2006
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18 | SLOS, DHCR7
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| DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
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| Correa-Cerro LS, Wassif CA, Waye JS, Krakowiak PA, Cozma D, Dobson NR, Levin SW, Anadiotis G, Steiner RD, Krajewska-Walasek M, Nowaczyk MJ, Porter FD.
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| J Med Genet 42(4):350-7. No abstract available. 2005
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19 | DHCR7, SLOS
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| Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
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| Wassif CA, Krakowiak PA, Wright BS, Gewandter JS, Sterner AL, Javitt N, Yergey AL, Porter FD.
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| Mol Genet Metab 85(2):96-107. Epub 2005 Feb 5. 2005
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20 | DHCR7, SLOS
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| Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
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| Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD.
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| Hum Mutat 26(1):59. 2005
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21 | DHCR7
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| Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
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| Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G.
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| Hum Mutat 25(4):412. 2005
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22 | SLOS, DHCR7
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| Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
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| Ginat S, Battaile KP, Battaile BC, Maslen C, Gibson KM, Steiner RD.
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| Mol Genet Metab 83(1-2):175-83. 2004
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23 | SLOS, DHCR7
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| DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
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| Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M.
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| Clin Genet 66(6):517-24. 2004
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24 | CYP51A1, DHCR24, EBP, DHCR7, DSMS, HEMSK, LBR, SC4MOL, SC5DL, SLOS
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| Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
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| Herman GE.
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| Hum Mol Genet 12(Suppl 1):R75-88. 2003
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25 | DHCR7
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| Smith-Lemli-Opitz syndrome and the DHCR7 gene.
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| Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA.
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| Ann Hum Genet 67(Pt 3):269-80. 2003
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26 | DHCR7, HMGCR, NPC1, PTCH1, PTCH2, SCAP
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| The sterol-sensing domain: multiple families, a unique role?
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| Kuwabara PE, Labouesse M.
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| Trends Genet 18(4):193-201. 2002
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27 | DHCR7
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| Mutations in the human DHCR7 gene.
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| Witsch-Baumgartner M, Loffler J, Utermann G.
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| Hum Mutat 17(3):172-82. 2001
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28 | DHCR7, SLOS
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| Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
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| Witsch-Baumgartner M, Ciara E, Loffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G.
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| Eur J Hum Genet 9(1):45-50. 2001
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29 | DHCR7, SLOS
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| Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
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| Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.
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| Am J Hum Genet 66(2):402-12. 2000
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30 | DHCR7, SLOS
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| Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome.
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| Waterham HR, Oostheim W, Romeijn GJ, Wanders RJ, Hennekam RC.
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| J Med Genet 37(5):387-9. No abstract available. 2000
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31 | DHCR7, SLOS
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| Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
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| Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS.
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| Hum Mol Genet 9(9):1385-91. 2000
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32 | DHCR7
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| RSH/Smith-Lemli-opitz syndrome: A multiple congenital Anomaly/Mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
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| Porter FD.
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| Mol Genet Metab 71(1-2):163-74. 2000
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33 | DHCR7
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| Smith-lemli-opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
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| Battaile KP, Steiner RD.
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| Mol Genet Metab 71(1-2):154-62. 2000
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34 | DHCR7, SLOS
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| Homozygosity for the W151X stop mutation in the Delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis.
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| Loffler J, Trojovsky A, Casati B, Kroisel PM, Utermann G.
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| Am J Med Genet 95(2):174-177. 2000
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35 | DHCR7, SLOS
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| Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome.
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| Gofflot F, Kolf-Clauw M, Clotman F, Roux C, Picard JJ.
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| Am J Med Genet 87(3):207-216 1999
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36 | DHCR7
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| Molecular cloning and expression of the human delta7-sterol reductase.
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| Moebius FF, et al.
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| Proc Natl Acad Sci U S A 95 : 1899-1902. 1998
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37 | DHCR7, SLOS
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| Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
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| Wassif CA, et al.
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| Am J Hum Genet 63 : 55-62. 1998
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38 | DHCR7, SLOS
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| Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
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| Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ.
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| Am J Hum Genet 63 : 329-338. 1998
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39 | LBR, DHCR7, TM7SF2
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| The human lamin B receptor/sterol reductase multigene family.
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| Holmer L, Pezhman A, Worman HJ.
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| Genomics 54 : 469-476. 1998
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