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