| 1 | HTS6, LSS
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| Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
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| Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC.
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| Am J Hum Genet 103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25.
2018
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| 2 | ARCC8, LSS
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| Congenital cataract with LSS gene mutations: a new case report.
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| Chen X, Liu L.
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| J Pediatr Endocrinol Metab 30(11):1231-1235. doi: 10.1515/jpem-2017-0101.
2017
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| 3 | LSS
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| Lanosterol Synthase Gene Polymorphisms and Changes in Endogenous Ouabain in the Response to Low Sodium Intake.
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| Lanzani C, Gatti G, Citterio L, Messaggio E, Delli Carpini S, Simonini M, Casamassima N, Zagato L, Brioni E, Hamlyn JM, Manunta P.
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| Hypertension 67(2):342-8. doi: 10.1161/HYPERTENSIONAHA.115.06415. Epub 2015 Dec 14.
2016
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| 4 | ARCC8, LSS
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| Lanosterol reverses protein aggregation in cataracts.
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| Zhao L, Chen XJ, Zhu J, Xi YB, Yang X, Hu LD, Ouyang H, Patel SH, Jin X, Lin D, Wu F, Flagg K, Cai H, Li G, Cao G, Lin Y, Chen D, Wen C, Chung C, Wang Y, Qiu A, Yeh E, Wang W, Hu X, Grob S, Abagyan R, Su Z, Tjondro HC, Zhao XJ, Luo H, Hou R, Jefferson J, Perry P, Gao W, Kozak I, Granet D, Li Y, Sun X, Wang J, Zhang L, Liu Y, Yan YB, Zhang K.
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| Nature 523(7562):607-11. doi: 10.1038/nature14650. Epub 2015 Jul 22. Erratum in: Nature. 2015 Oct 22;526(7574):595.
2015
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| 5 | LSS
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| Plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver.
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| Nagashima S, Yagyu H, Tozawa R, Tazoe F, Takahashi M, Kitamine T, Yamamuro D, Sakai K, Sekiya M, Okazaki H, Osuga J, Honda A, Ishibashi S.
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| J Lipid Res 56(5):998-1005. doi: 10.1194/jlr.M057406. Epub 2015 Mar 9.
2015
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| 6 | LSS
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| Cholesterol synthesis inhibitor RO 48-8071 suppresses transcriptional activity of human estrogen and androgen receptor.
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| Mafuvadze B, Liang Y, Hyder SM.
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| Oncol Rep 32(4):1727-33. doi: 10.3892/or.2014.3332. Epub 2014 Jul 15.
2014
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| 7 | LSS
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| Cholesterol synthesis-related enzyme oxidosqualene cyclase is required to maintain self-renewal in primary erythroid progenitors.
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| Mejia-Pous C, Damiola F, Gandrillon O.
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| Cell Prolif 44(5):441-52. doi: 10.1111/j.1365-2184.2011.00771.x.
2011
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| 8 | LSS
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| Suppression of 2,3-oxidosqualene cyclase by high fat diet contributes to liver X receptor-alpha-mediated improvement of hepatic lipid profile.
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| Dang H, Liu Y, Pang W, Li C, Wang N, Shyy JY, Zhu Y.
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| J Biol Chem 284(10):6218-26. doi: 10.1074/jbc.M803702200. Epub 2009 Jan 1.
2009
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| 9 | LSS, NFE2L1
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| Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
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| Ma J, Dempsey AA, Stamatiou D, Marshall KW, Liew CC.
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| Atherosclerosis 191(1):63-72. Epub 2006 Jun 30. 2007
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| 10 | HDAC3, LSS
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| Histone deacetylase 3 down-regulates cholesterol synthesis through repression of lanosterol synthase gene expression.
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| Villagra A, Ulloa N, Zhang X, Yuan Z, Sotomayor E, Seto E.
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| J Biol Chem 282(49):35457-70. Epub 2007 Oct 9. 2007
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| 11 | LSS
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| Insight into steroid scaffold formation from the structure of human oxidosqualene cyclase.
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| Thoma R, Schulz-Gasch T, D'Arcy B, Benz J, Aebi J, Dehmlow H, Hennig M, Stihle M, Ruf A.
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| Nature 432(7013):118-22. 2004
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| 12 | HPE1, LSS
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| Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly.
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| Roessler E, Mittaz L, Du Y, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SP, Muenke M, Antonarakis SE.
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| Hum Genet 105(5):489-95 1999
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| 13 | ADARB1, CFAP410, LSS, PFKL, SLC19A1, SUMO3
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| Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.
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| Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS, Antonarakis SE, Creau N, Brahe C.
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| Genomics 49(1):1-13. 1998
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| 14 | ATP5O, EZH2, HLCS, LSS, NCAM2, PCNT, PWP2, U2AF1
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| Characterization of chromosome 21 genes; progress report. (abstr)
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| Antonarakis SE, et al.
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| Cytogenet Cell Genet 79 : 40. 1997
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| 15 | LSS
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| The human lanosterol synthase gene maps to chromosome 21q22.3.
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| Young M, et al.
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| Hum Genet 97 : 620-624. 1996
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