BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

564 related articles for article (PubMed ID: 26959129)

  • 1. Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
    Hafler BP; Comander J; Weigel DiFranco C; Place EM; Pierce EA
    Semin Ophthalmol; 2016; 31(1-2):49-52. PubMed ID: 26959129
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
    Waseem NH; Vaclavik V; Webster A; Jenkins SA; Bird AC; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1330-4. PubMed ID: 17325180
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
    Martínez-Gimeno M; Gamundi MJ; Hernan I; Maseras M; Millá E; Ayuso C; García-Sandoval B; Beneyto M; Vilela C; Baiget M; Antiñolo G; Carballo M
    Invest Ophthalmol Vis Sci; 2003 May; 44(5):2171-7. PubMed ID: 12714658
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.
    Sato H; Wada Y; Itabashi T; Nakamura M; Kawamura M; Tamai M
    Am J Ophthalmol; 2005 Sep; 140(3):537-40. PubMed ID: 16139010
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
    Wheway G; Douglas A; Baralle D; Guillot E
    Exp Eye Res; 2020 Mar; 192():107950. PubMed ID: 32014492
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.
    Mordes D; Yuan L; Xu L; Kawada M; Molday RS; Wu JY
    Neurobiol Dis; 2007 May; 26(2):291-300. PubMed ID: 17350276
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa.
    Xi Z; Vats A; Sahel JA; Chen Y; Byrne LC
    Nat Commun; 2022 Dec; 13(1):7695. PubMed ID: 36509783
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa.
    Kiser K; Webb-Jones KD; Bowne SJ; Sullivan LS; Daiger SP; Birch DG
    Am J Ophthalmol; 2019 Apr; 200():76-84. PubMed ID: 30582903
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gene of the month:
    Rose AM; Luo R; Radia UK; Bhattacharya SS
    J Clin Pathol; 2017 Sep; 70(9):729-732. PubMed ID: 28663330
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
    Martin-Merida I; Sanchez-Alcudia R; Fernandez-San Jose P; Blanco-Kelly F; Perez-Carro R; Rodriguez-Jacy da Silva L; Almoguera B; Garcia-Sandoval B; Lopez-Molina MI; Avila-Fernandez A; Carballo M; Corton M; Ayuso C
    Invest Ophthalmol Vis Sci; 2017 Feb; 58(2):1045-1053. PubMed ID: 28192796
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.
    Wang L; Ribaudo M; Zhao K; Yu N; Chen Q; Sun Q; Wang L; Wang Q
    Am J Med Genet A; 2003 Sep; 121A(3):235-9. PubMed ID: 12923864
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.
    Utz VM; Beight CD; Marino MJ; Hagstrom SA; Traboulsi EI
    Ophthalmic Genet; 2013 Dec; 34(4):183-8. PubMed ID: 23343310
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation.
    Aweidah H; Xi Z; Sahel JA; Byrne LC
    Vision Res; 2023 Dec; 213():108315. PubMed ID: 37714045
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa.
    Berger A; Lorain S; Joséphine C; Desrosiers M; Peccate C; Voit T; Garcia L; Sahel JA; Bemelmans AP
    Mol Ther; 2015 May; 23(5):918-930. PubMed ID: 25619725
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications.
    Taira K; Nakazawa M; Sato M
    Jpn J Ophthalmol; 2007; 51(1):45-8. PubMed ID: 17295140
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
    Xia K; Zheng D; Pan Q; Liu Z; Xi X; Hu Z; Deng H; Liu X; Jiang D; Deng H; Xia J
    Mol Vis; 2004 May; 10():361-5. PubMed ID: 15162096
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
    Yuan L; Kawada M; Havlioglu N; Tang H; Wu JY
    J Neurosci; 2005 Jan; 25(3):748-57. PubMed ID: 15659613
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
    Sullivan LS; Bowne SJ; Seaman CR; Blanton SH; Lewis RA; Heckenlively JR; Birch DG; Hughbanks-Wheaton D; Daiger SP
    Invest Ophthalmol Vis Sci; 2006 Oct; 47(10):4579-88. PubMed ID: 17003455
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).
    Bujakowska K; Maubaret C; Chakarova CF; Tanimoto N; Beck SC; Fahl E; Humphries MM; Kenna PF; Makarov E; Makarova O; Paquet-Durand F; Ekström PA; van Veen T; Leveillard T; Humphries P; Seeliger MW; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5927-33. PubMed ID: 19578015
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.
    Kurata K; Hosono K; Hotta Y
    Jpn J Ophthalmol; 2018 Mar; 62(2):186-193. PubMed ID: 29305715
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.