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Journal Abstract Search

222 related items for PubMed ID: 12140192

  • 1. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
    Mavlyutov TA, Zhao H, Ferreira PA.
    Hum Mol Genet; 2002 Aug 01; 11(16):1899-907. PubMed ID: 12140192
    [Abstract] [Full Text] [Related]

  • 2. The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis.
    Zhao Y, Hong DH, Pawlyk B, Yue G, Adamian M, Grynberg M, Godzik A, Li T.
    Proc Natl Acad Sci U S A; 2003 Apr 01; 100(7):3965-70. PubMed ID: 12651948
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  • 3. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
    Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA.
    Hum Mol Genet; 2000 Sep 01; 9(14):2095-105. PubMed ID: 10958648
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  • 4. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.
    Hong DH, Yue G, Adamian M, Li T.
    J Biol Chem; 2001 Apr 13; 276(15):12091-9. PubMed ID: 11104772
    [Abstract] [Full Text] [Related]

  • 5. Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.
    He S, Parapuram SK, Hurd TW, Behnam B, Margolis B, Swaroop A, Khanna H.
    Vision Res; 2008 Feb 13; 48(3):366-76. PubMed ID: 17904189
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  • 8. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
    Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W.
    Hum Mol Genet; 1999 Aug 13; 8(8):1571-8. PubMed ID: 10401007
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  • 9. Identification of a novel protein interacting with RPGR.
    Boylan JP, Wright AF.
    Hum Mol Genet; 2000 Sep 01; 9(14):2085-93. PubMed ID: 10958647
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  • 10. Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.
    Wright RN, Hong DH, Perkins B.
    Invest Ophthalmol Vis Sci; 2011 Jul 15; 52(8):5189-201. PubMed ID: 21546531
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  • 12. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.
    Thompson DA, Khan NW, Othman MI, Chang B, Jia L, Grahek G, Wu Z, Hiriyanna S, Nellissery J, Li T, Khanna H, Colosi P, Swaroop A, Heckenlively JR.
    PLoS One; 2012 Jul 15; 7(5):e35865. PubMed ID: 22563472
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  • 13. Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.
    Megaw R, Abu-Arafeh H, Jungnickel M, Mellough C, Gurniak C, Witke W, Zhang W, Khanna H, Mill P, Dhillon B, Wright AF, Lako M, Ffrench-Constant C.
    Nat Commun; 2017 Aug 16; 8(1):271. PubMed ID: 28814713
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  • 14. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).
    Zeiss CJ, Ray K, Acland GM, Aguirre GD.
    Hum Mol Genet; 2000 Mar 01; 9(4):531-7. PubMed ID: 10699176
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  • 15. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep 01; 38(10):1983-97. PubMed ID: 9331262
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  • 16. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
    Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Genet; 1999 Sep 01; 105(1-2):57-62. PubMed ID: 10480356
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  • 17. A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration.
    Wu Z, Hiriyanna S, Qian H, Mookherjee S, Campos MM, Gao C, Fariss R, Sieving PA, Li T, Colosi P, Swaroop A.
    Hum Mol Genet; 2015 Jul 15; 24(14):3956-70. PubMed ID: 25877300
    [Abstract] [Full Text] [Related]

  • 18. Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.
    Ferreira PA.
    Hum Mol Genet; 2005 Oct 15; 14 Spec No. 2(SPEC):R259-67. PubMed ID: 16244324
    [Abstract] [Full Text] [Related]

  • 19. Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
    Vervoort R, Wright AF.
    Hum Mutat; 2002 May 15; 19(5):486-500. PubMed ID: 11968081
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  • 20. Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).
    Murga-Zamalloa C, Swaroop A, Khanna H.
    Adv Exp Med Biol; 2010 May 15; 664():105-14. PubMed ID: 20238008
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