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Journal Abstract Search

751 related items for PubMed ID: 36975211

  • 1. Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects.
    Chen HY, Swaroop M, Papal S, Mondal AK, Song HB, Campello L, Tawa GJ, Regent F, Shimada H, Nagashima K, de Val N, Jacobson SG, Zheng W, Swaroop A.
    Elife; 2023 Mar 28; 12():. PubMed ID: 36975211
    [Abstract] [Full Text] [Related]

  • 2. A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration.
    Mookherjee S, Chen HY, Isgrig K, Yu W, Hiriyanna S, Levron R, Li T, Colosi P, Chien W, Swaroop A, Wu Z.
    Cell Rep; 2018 Oct 16; 25(3):611-623.e6. PubMed ID: 30332642
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  • 3. Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
    Corral-Serrano JC, Sladen PE, Ottaviani D, Rezek OF, Athanasiou D, Jovanovic K, van der Spuy J, Mansfield BC, Cheetham ME.
    Cells; 2023 Jun 07; 12(12):. PubMed ID: 37371046
    [Abstract] [Full Text] [Related]

  • 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. 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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  • 6. 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 01; 29(1):42-50. PubMed ID: 28679290
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  • 8. Large-scale phenotypic drug screen identifies neuroprotectants in zebrafish and mouse models of retinitis pigmentosa.
    Zhang L, Chen C, Fu J, Lilley B, Berlinicke C, Hansen B, Ding D, Wang G, Wang T, Shou D, Ye Y, Mulligan T, Emmerich K, Saxena MT, Hall KR, Sharrock AV, Brandon C, Park H, Kam TI, Dawson VL, Dawson TM, Shim JS, Hanes J, Ji H, Liu JO, Qian J, Ackerley DF, Rohrer B, Zack DJ, Mumm JS.
    Elife; 2021 Jun 29; 10():. PubMed ID: 34184634
    [Abstract] [Full Text] [Related]

  • 9. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
    Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A.
    J Clin Invest; 2012 Apr 29; 122(4):1233-45. PubMed ID: 22446187
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  • 11. CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.
    Burnight ER, Wiley LA, Drack AV, Braun TA, Anfinson KR, Kaalberg EE, Halder JA, Affatigato LM, Mullins RF, Stone EM, Tucker BA.
    Gene Ther; 2014 Jul 29; 21(7):662-72. PubMed ID: 24807808
    [Abstract] [Full Text] [Related]

  • 12. In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.
    Shimada H, Lu Q, Insinna-Kettenhofen C, Nagashima K, English MA, Semler EM, Mahgerefteh J, Cideciyan AV, Li T, Brooks BP, Gunay-Aygun M, Jacobson SG, Cogliati T, Westlake CJ, Swaroop A.
    Cell Rep; 2017 Jul 11; 20(2):384-396. PubMed ID: 28700940
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  • 13. BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
    Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC.
    Hum Mol Genet; 2014 Jan 01; 23(1):40-51. PubMed ID: 23943788
    [Abstract] [Full Text] [Related]

  • 14. Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.
    McDonald A, Wijnholds J.
    Int J Mol Sci; 2024 Mar 01; 25(5):. PubMed ID: 38474133
    [Abstract] [Full Text] [Related]

  • 15. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
    Downs LM, Scott EM, Cideciyan AV, Iwabe S, Dufour V, Gardiner KL, Genini S, Marinho LF, Sumaroka A, Kosyk MS, Swider M, Aguirre GK, Jacobson SG, Beltran WA, Aguirre GD.
    Hum Mol Genet; 2016 Oct 01; 25(19):4211-4226. PubMed ID: 27506978
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  • 16. Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
    Parfitt DA, Lane A, Ramsden C, Jovanovic K, Coffey PJ, Hardcastle AJ, Cheetham ME.
    Biochem Soc Trans; 2016 Oct 15; 44(5):1245-1251. PubMed ID: 27911706
    [Abstract] [Full Text] [Related]

  • 17. The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors.
    Datta P, Hendrickson B, Brendalen S, Ruffcorn A, Seo S.
    J Biol Chem; 2019 Dec 13; 294(50):19119-19136. PubMed ID: 31694913
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  • 18. Patient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies.
    Kruczek K, Swaroop A.
    Curr Top Dev Biol; 2023 Dec 13; 155():127-163. PubMed ID: 38043950
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