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Journal Abstract Search

203 related items for PubMed ID: 29947801

  • 1. 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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  • 2. In vivo analysis of onset and progression of retinal degeneration in the Nr2e3rd7/rd7 mouse model of enhanced S-cone sensitivity syndrome.
    Venturini G, Kokona D, Steiner BL, Bulla EG, Jovanovic J, Zinkernagel MS, Escher P.
    Sci Rep; 2021 Sep 24; 11(1):19032. PubMed ID: 34561487
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  • 3. Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
    Newman H, Blumen SC, Braverman I, Hanna R, Tiosano B, Perlman I, Ben-Yosef T.
    Invest Ophthalmol Vis Sci; 2016 Oct 01; 57(13):5361-5371. PubMed ID: 27732723
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  • 4. 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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  • 6. 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 21; 36(6):599-610. PubMed ID: 25703721
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  • 11. Effect of Rds abundance on cone outer segment morphogenesis, photoreceptor gene expression, and outer limiting membrane integrity.
    Farjo R, Fliesler SJ, Naash MI.
    J Comp Neurol; 2007 Oct 20; 504(6):619-30. PubMed ID: 17722028
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  • 13. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
    Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y.
    Jpn J Ophthalmol; 2016 Nov 20; 60(6):476-485. PubMed ID: 27522502
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  • 15. Different effects of valproic acid on photoreceptor loss in Rd1 and Rd10 retinal degeneration mice.
    Mitton KP, Guzman AE, Deshpande M, Byrd D, DeLooff C, Mkoyan K, Zlojutro P, Wallace A, Metcalf B, Laux K, Sotzen J, Tran T.
    Mol Vis; 2014 Nov 20; 20():1527-44. PubMed ID: 25489226
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  • 16. 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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