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108 related items for PubMed ID: 14507859

  • 1. NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.
    Zeitz C, Scherthan H, Freier S, Feil S, Suckow V, Schweiger S, Berger W.
    Invest Ophthalmol Vis Sci; 2003 Oct; 44(10):4184-91. PubMed ID: 14507859
    [Abstract] [Full Text] [Related]

  • 2. Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein.
    O'Connor E, Eisenhaber B, Dalley J, Wang T, Missen C, Bulleid N, Bishop PN, Trump D.
    Hum Mol Genet; 2005 Jul 01; 14(13):1877-87. PubMed ID: 15905181
    [Abstract] [Full Text] [Related]

  • 3. Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.
    Pesch K, Zeitz C, Fries JE, Münscher S, Pusch CM, Kohler K, Berger W, Wissinger B.
    Invest Ophthalmol Vis Sci; 2003 May 01; 44(5):2260-6. PubMed ID: 12714669
    [Abstract] [Full Text] [Related]

  • 4. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
    Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A.
    Nat Genet; 2000 Nov 01; 26(3):324-7. PubMed ID: 11062472
    [Abstract] [Full Text] [Related]

  • 5. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG.
    Nat Genet; 2000 Nov 01; 26(3):319-23. PubMed ID: 11062471
    [Abstract] [Full Text] [Related]

  • 6. Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.
    Scalabrino ML, Boye SL, Fransen KM, Noel JM, Dyka FM, Min SH, Ruan Q, De Leeuw CN, Simpson EM, Gregg RG, McCall MA, Peachey NS, Boye SE.
    Hum Mol Genet; 2015 Nov 01; 24(21):6229-39. PubMed ID: 26310623
    [Abstract] [Full Text] [Related]

  • 7. Mutations in NYX of individuals with high myopia, but without night blindness.
    Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF.
    Mol Vis; 2007 Mar 01; 13():330-6. PubMed ID: 17392683
    [Abstract] [Full Text] [Related]

  • 8. Identification of the gene and the mutation responsible for the mouse nob phenotype.
    Gregg RG, Mukhopadhyay S, Candille SI, Ball SL, Pardue MT, McCall MA, Peachey NS.
    Invest Ophthalmol Vis Sci; 2003 Jan 01; 44(1):378-84. PubMed ID: 12506099
    [Abstract] [Full Text] [Related]

  • 9. NYX mutations in four families with high myopia with or without CSNB1.
    Zhou L, Li T, Song X, Li Y, Li H, Dan H.
    Mol Vis; 2015 Jan 01; 21():213-23. PubMed ID: 25802485
    [Abstract] [Full Text] [Related]

  • 10. Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness.
    Khan NW, Kondo M, Hiriyanna KT, Jamison JA, Bush RA, Sieving PA.
    J Neurophysiol; 2005 Jan 01; 93(1):481-92. PubMed ID: 15331616
    [Abstract] [Full Text] [Related]

  • 11. Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness.
    Gregg RG, Kamermans M, Klooster J, Lukasiewicz PD, Peachey NS, Vessey KA, McCall MA.
    J Neurophysiol; 2007 Nov 01; 98(5):3023-33. PubMed ID: 17881478
    [Abstract] [Full Text] [Related]

  • 12. CSNB1 in Chinese families associated with novel mutations in NYX.
    Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q.
    J Hum Genet; 2006 Nov 01; 51(7):634-40. PubMed ID: 16670814
    [Abstract] [Full Text] [Related]

  • 13. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.
    Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R.
    Genomics; 2004 Apr 01; 83(4):615-25. PubMed ID: 15028284
    [Abstract] [Full Text] [Related]

  • 14. Two endoplasmic reticulum (ER) membrane proteins that facilitate ER-to-Golgi transport of glycosylphosphatidylinositol-anchored proteins.
    Barz WP, Walter P.
    Mol Biol Cell; 1999 Apr 01; 10(4):1043-59. PubMed ID: 10198056
    [Abstract] [Full Text] [Related]

  • 15. Mutated mouse and human myocilins have similar properties and do not block general secretory pathway.
    Malyukova I, Lee HS, Fariss RN, Tomarev SI.
    Invest Ophthalmol Vis Sci; 2006 Jan 01; 47(1):206-12. PubMed ID: 16384964
    [Abstract] [Full Text] [Related]

  • 16. Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
    Dai S, Ying M, Wang K, Wang L, Han R, Hao P, Li N.
    Sci Rep; 2015 Aug 03; 5():12679. PubMed ID: 26234941
    [Abstract] [Full Text] [Related]

  • 17. Topological analysis of small leucine-rich repeat proteoglycan nyctalopin.
    Bojang P, Gregg RG.
    PLoS One; 2012 Aug 03; 7(4):e33137. PubMed ID: 22485138
    [Abstract] [Full Text] [Related]

  • 18. A common NYX mutation in Flemish patients with X linked CSNB.
    Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C.
    Br J Ophthalmol; 2009 May 03; 93(5):692-6. PubMed ID: 18617546
    [Abstract] [Full Text] [Related]

  • 19. Localization of nyctalopin in the mammalian retina.
    Morgans CW, Ren G, Akileswaran L.
    Eur J Neurosci; 2006 Mar 03; 23(5):1163-71. PubMed ID: 16553780
    [Abstract] [Full Text] [Related]

  • 20. Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick.
    Bech-Hansen NT, Cockfield J, Liu D, Logan CC.
    Mamm Genome; 2005 Oct 03; 16(10):815-24. PubMed ID: 16261423
    [Abstract] [Full Text] [Related]

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