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Journal Abstract Search

236 related items for PubMed ID: 30959774

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  • 2. Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish.
    Xie S, Han S, Qu Z, Liu F, Li J, Yu S, Reilly J, Tu J, Liu X, Lu Z, Hu X, Yimer TA, Qin Y, Huang Y, Lv Y, Jiang T, Shu X, Tang Z, Jia H, Wong F, Liu M.
    Biochim Biophys Acta Mol Basis Dis; 2019 Jun 01; 1865(6):1273-1283. PubMed ID: 30684641
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  • 4. Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.
    von Alpen D, Tran HV, Guex N, Venturini G, Munier FL, Schorderet DF, Haider NB, Escher P.
    Hum Mutat; 2015 Jun 01; 36(6):599-610. PubMed ID: 25703721
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  • 7. Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease.
    Cruz NM, Yuan Y, Leehy BD, Baid R, Kompella U, DeAngelis MM, Escher P, Haider NB.
    PLoS One; 2014 Jun 01; 9(1):e87942. PubMed ID: 24498227
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  • 8. Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
    Collison FT, Park JC, Fishman GA, Stone EM, McAnany JJ.
    Doc Ophthalmol; 2016 Jun 01; 132(3):157-66. PubMed ID: 27033713
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  • 9. Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3.
    Diakatou M, Dubois G, Erkilic N, Sanjurjo-Soriano C, Meunier I, Kalatzis V.
    Int J Mol Sci; 2021 Mar 05; 22(5):. PubMed ID: 33807610
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  • 11. Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
    Garafalo AV, Calzetti G, Cideciyan AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2018 Jul 02; 59(8):3209-3219. PubMed ID: 29971438
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  • 13. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
    Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC.
    Nat Genet; 2000 Feb 02; 24(2):127-31. PubMed ID: 10655056
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  • 14. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
    Schorderet DF, Escher P.
    Hum Mutat; 2009 Nov 02; 30(11):1475-85. PubMed ID: 19718767
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  • 15. Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors.
    Cheng H, Khan NW, Roger JE, Swaroop A.
    Hum Mol Genet; 2011 Nov 01; 20(21):4102-15. PubMed ID: 21813656
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  • 17. An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.
    Kong Y, Zhao L, Charette JR, Hicks WL, Stone L, Nishina PM, Naggert JK.
    Hum Mol Genet; 2018 Oct 01; 27(19):3340-3352. PubMed ID: 29947801
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  • 20. Investigating cone photoreceptor development using patient-derived NRL null retinal organoids.
    Kallman A, Capowski EE, Wang J, Kaushik AM, Jansen AD, Edwards KL, Chen L, Berlinicke CA, Joseph Phillips M, Pierce EA, Qian J, Wang TH, Gamm DM, Zack DJ.
    Commun Biol; 2020 Feb 21; 3(1):82. PubMed ID: 32081919
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