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8. A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression. Yang D; Yao Q; Li Y; Xu Y; Wang J; Zhao H; Liu F; Zhang Z; Liu Y; Bie X; Wang Y; Xu L; Luan Y; Yang S; Yang G; He Y Ophthalmic Physiol Opt; 2020 May; 40(3):289-299. PubMed ID: 32031697 [TBL] [Abstract][Full Text] [Related]
9. Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. Xiao X; Cao Y; Zhang Z; Xu Y; Zheng Y; Chen LJ; Pang CP; Chen H Invest Ophthalmol Vis Sci; 2017 Dec; 58(14):6342-6350. PubMed ID: 29260190 [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. Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus. Chen Z; Chen J; Gao M; Liu Y; Wu Y; Wang Y; Gong Y; Yu S; Liu W; Wan X; Sun X Hum Mutat; 2022 Dec; 43(12):2279-2294. PubMed ID: 36317469 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis". Rose AM; Shah AZ; Venturini G; Rivolta C; Rose GE; Bhattacharya SS Ann Hum Genet; 2014 Jan; 78(1):62-71. PubMed ID: 24116917 [TBL] [Abstract][Full Text] [Related]
16. PRPF31 alternative splicing and expression in human retina. Tanackovic G; Rivolta C Ophthalmic Genet; 2009 Jun; 30(2):76-83. PubMed ID: 19373678 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. Villanueva A; Willer JR; Bryois J; Dermitzakis ET; Katsanis N; Davis EE Invest Ophthalmol Vis Sci; 2014 Apr; 55(4):2121-9. PubMed ID: 24595387 [TBL] [Abstract][Full Text] [Related]