202 related articles for article (PubMed ID: 19578015)
1. 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]
2. Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.
Graziotto JJ; Farkas MH; Bujakowska K; Deramaudt BM; Zhang Q; Nandrot EF; Inglehearn CF; Bhattacharya SS; Pierce EA
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):190-8. PubMed ID: 20811066
[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. Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.
Wilkie SE; Vaclavik V; Wu H; Bujakowska K; Chakarova CF; Bhattacharya SS; Warren MJ; Hunt DM
Mol Vis; 2008 Apr; 14():683-90. PubMed ID: 18431455
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.
Valdés-Sánchez L; Calado SM; de la Cerda B; Aramburu A; García-Delgado AB; Massalini S; Montero-Sánchez A; Bhatia V; Rodríguez-Bocanegra E; Diez-Lloret A; Rodríguez-Martínez D; Chakarova C; Bhattacharya SS; Díaz-Corrales FJ
Mol Med; 2019 Dec; 26(1):1. PubMed ID: 31892304
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
Yang Y; Tian D; Lee J; Zeng J; Zhang H; Chen S; Guo H; Xiong Z; Xia K; Hu Z; Luo J
Ophthalmic Genet; 2015 Mar; 36(1):64-9. PubMed ID: 23834559
[TBL] [Abstract][Full Text] [Related]
10. 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]
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. 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]
13. Heterozygous deletions of noncoding parts of the
Ruberto FP; Balzano S; Namburi P; Kimchi A; Pescini-Gobert R; Obolensky A; Banin E; Ben-Yosef T; Sharon D; Rivolta C
Mol Vis; 2021; 27():107-116. PubMed ID: 33907366
[TBL] [Abstract][Full Text] [Related]
14. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.
Buskin A; Zhu L; Chichagova V; Basu B; Mozaffari-Jovin S; Dolan D; Droop A; Collin J; Bronstein R; Mehrotra S; Farkas M; Hilgen G; White K; Pan KT; Treumann A; Hallam D; Bialas K; Chung G; Mellough C; Ding Y; Krasnogor N; Przyborski S; Zwolinski S; Al-Aama J; Alharthi S; Xu Y; Wheway G; Szymanska K; McKibbin M; Inglehearn CF; Elliott DJ; Lindsay S; Ali RR; Steel DH; Armstrong L; Sernagor E; Urlaub H; Pierce E; Lührmann R; Grellscheid SN; Johnson CA; Lako M
Nat Commun; 2018 Oct; 9(1):4234. PubMed ID: 30315276
[TBL] [Abstract][Full Text] [Related]
15. Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
Deery EC; Vithana EN; Newbold RJ; Gallon VA; Bhattacharya SS; Warren MJ; Hunt DM; Wilkie SE
Hum Mol Genet; 2002 Dec; 11(25):3209-19. PubMed ID: 12444105
[TBL] [Abstract][Full Text] [Related]
16. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
Vithana EN; Abu-Safieh L; Pelosini L; Winchester E; Hornan D; Bird AC; Hunt DM; Bustin SA; Bhattacharya SS
Invest Ophthalmol Vis Sci; 2003 Oct; 44(10):4204-9. PubMed ID: 14507862
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
Wu Z; Zhong M; Li M; Huang H; Liao J; Lu A; Guo K; Ma N; Lin J; Duan J; Liu L; Xu F; Zhong Z; Chen J
Curr Mol Med; 2018; 18(5):287-294. PubMed ID: 30360737
[TBL] [Abstract][Full Text] [Related]
20. Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa.
Pensado A; Diaz-Corrales FJ; De la Cerda B; Valdés-Sánchez L; Del Boz AA; Rodriguez-Martinez D; García-Delgado AB; Seijo B; Bhattacharya SS; Sanchez A
Nanomedicine; 2016 Nov; 12(8):2251-2260. PubMed ID: 27381066
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
