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Journal Abstract Search

338 related items for PubMed ID: 17898177

  • 1. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.
    McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR.
    Proc Natl Acad Sci U S A; 2007 Oct 02; 104(40):15917-22. PubMed ID: 17898177
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  • 2. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
    Cideciyan AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone EM, Jacobson SG, Swaroop A.
    Hum Mol Genet; 2011 Apr 01; 20(7):1411-23. PubMed ID: 21245082
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  • 3. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
    Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A.
    Hum Mutat; 2007 Nov 01; 28(11):1074-83. PubMed ID: 17554762
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  • 4. Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.
    Subramanian B, Anand M, Khan NW, Khanna H.
    Invest Ophthalmol Vis Sci; 2014 Aug 14; 55(9):5788-94. PubMed ID: 25125607
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  • 5. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
    Boye SE, Huang WC, Roman AJ, Sumaroka A, Boye SL, Ryals RC, Olivares MB, Ruan Q, Tucker BA, Stone EM, Swaroop A, Cideciyan AV, Hauswirth WW, Jacobson SG.
    PLoS One; 2014 Aug 14; 9(3):e92928. PubMed ID: 24671090
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  • 9. Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.
    Zhang W, Li L, Su Q, Gao G, Khanna H.
    Hum Gene Ther; 2018 Jan 14; 29(1):42-50. PubMed ID: 28679290
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  • 10. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
    Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A.
    Hum Mol Genet; 2006 Jun 01; 15(11):1847-57. PubMed ID: 16632484
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  • 11. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
    Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM.
    Hum Mutat; 2007 Apr 01; 28(4):416. PubMed ID: 17345604
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  • 18. CEP290 and the primary cilium.
    Drivas TG, Bennett J.
    Adv Exp Med Biol; 2014 Apr 01; 801():519-25. PubMed ID: 24664739
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  • 19. The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.
    Baye LM, Patrinostro X, Swaminathan S, Beck JS, Zhang Y, Stone EM, Sheffield VC, Slusarski DC.
    Hum Mol Genet; 2011 Apr 15; 20(8):1467-77. PubMed ID: 21257638
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  • 20. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
    Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI.
    Invest Ophthalmol Vis Sci; 2010 Jul 15; 51(7):3646-52. PubMed ID: 20130272
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