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Journal Abstract Search

225 related items for PubMed ID: 32788070

  • 1. A novel missense mutation of RPGR identified from retinitis pigmentosa affects splicing of the ORF15 region and causes loss of transcript heterogeneity.
    Liu YS, Pan JQ, Wan JF, Ren CY, Xu ZH, Pan XB, Gao RN, Liu SQ, Zhang JL, Yao QH, Wang JH, Li EM, Rao JH, Hou P, Chen JH.
    Biochem Biophys Res Commun; 2020 Oct 15; 531(2):172-179. PubMed ID: 32788070
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  • 2. Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.
    Parmeggiani F, Barbaro V, De Nadai K, Lavezzo E, Toppo S, Chizzolini M, Palù G, Parolin C, Di Iorio E.
    Sci Rep; 2016 Dec 20; 6():39179. PubMed ID: 27995965
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  • 5. Identification of circular RNAs hosted by the RPGR ORF15 genomic locus.
    Appelbaum T, Aguirre GD, Beltran WA.
    RNA Biol; 2023 Jan 20; 20(1):31-47. PubMed ID: 36593651
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  • 8. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
    Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.
    Arch Ophthalmol; 2008 Mar 20; 126(3):379-84. PubMed ID: 18332319
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  • 9. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
    Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.
    Mol Vis; 2008 Jun 06; 14():1081-93. PubMed ID: 18552978
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  • 12. Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients.
    Gan DK, He CL, Shu HR, Hoffman MR, Jin ZB.
    Neurosci Lett; 2011 Aug 01; 500(1):16-9. PubMed ID: 21683121
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  • 14. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
    Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD.
    Hum Mol Genet; 2002 May 01; 11(9):993-1003. PubMed ID: 11978759
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  • 15. Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background.
    Jacobi FK, Karra D, Broghammer M, Blin N, Pusch CM.
    Int J Mol Med; 2005 Dec 01; 16(6):1175-8. PubMed ID: 16273303
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  • 16. The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.
    Vössing C, Atigbire P, Eilers J, Markus F, Stieger K, Song F, Neidhardt J.
    Int J Mol Sci; 2021 Mar 30; 22(7):. PubMed ID: 33808286
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  • 17. 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 Mar 30; 7(5):e35865. PubMed ID: 22563472
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  • 18. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.
    Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.
    Ophthalmic Genet; 2003 Dec 30; 24(4):215-23. PubMed ID: 14566651
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  • 20. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
    Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.
    Am J Hum Genet; 2003 Nov 30; 73(5):1131-46. PubMed ID: 14564670
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