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Journal Abstract Search

115 related items for PubMed ID: 12384283

  • 1. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
    Conte I, Lestingi M, den Hollander A, Miano MG, Alfano G, Circolo D, Pugliese M, Testa F, Simonelli F, Rinaldi E, Baiget M, Banfi S, Ciccodicola A.
    Gene; 2002 Sep 04; 297(1-2):33-8. PubMed ID: 12384283
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  • 2. Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins.
    Stöhr H, Weber BH.
    Genomics; 2001 Jun 15; 74(3):377-84. PubMed ID: 11414766
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  • 10. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
    Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS.
    Mol Vis; 2003 Apr 24; 9():129-37. PubMed ID: 12724644
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  • 11. Mpp4 recruits Psd95 and Veli3 towards the photoreceptor synapse.
    Aartsen WM, Kantardzhieva A, Klooster J, van Rossum AG, van de Pavert SA, Versteeg I, Cardozo BN, Tonagel F, Beck SC, Tanimoto N, Seeliger MW, Wijnholds J.
    Hum Mol Genet; 2006 Apr 15; 15(8):1291-302. PubMed ID: 16520334
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  • 12. Proteomic analysis of the membrane palmitoylated protein-4 (MPP4)-associated protein complex in the retina.
    Förster JR, Lochnit G, Stöhr H.
    Exp Eye Res; 2009 Jan 15; 88(1):39-48. PubMed ID: 18955048
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  • 13. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
    Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D.
    Am J Hum Genet; 2010 Sep 10; 87(3):382-91. PubMed ID: 20705279
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  • 14. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
    Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF.
    Nat Genet; 2000 Aug 10; 25(4):462-6. PubMed ID: 10932196
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  • 17. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
    den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA.
    Nat Genet; 1999 Oct 10; 23(2):217-21. PubMed ID: 10508521
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  • 18. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
    Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS.
    Hum Mol Genet; 2002 Jan 01; 11(1):87-92. PubMed ID: 11773002
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  • 19. VAM-1: a new member of the MAGUK family binds to human Veli-1 through a conserved domain.
    Tseng TC, Marfatia SM, Bryant PJ, Pack S, Zhuang Z, O'Brien JE, Lin L, Hanada T, Chishti AH.
    Biochim Biophys Acta; 2001 Apr 16; 1518(3):249-59. PubMed ID: 11311936
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  • 20. A novel protein-tyrosine phosphatase with homology to both the cytoskeletal proteins of the band 4.1 family and junction-associated guanylate kinases.
    Banville D, Ahmad S, Stocco R, Shen SH.
    J Biol Chem; 1994 Sep 02; 269(35):22320-7. PubMed ID: 8071359
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