177 related articles for article (PubMed ID: 22723017)
1. Expression of PRPF31 and TFPT: regulation in health and retinal disease.
Rose AM; Shah AZ; Waseem NH; Chakarova CF; Alfano G; Coussa RG; Ajlan R; Koenekoop RK; Bhattacharya SS
Hum Mol Genet; 2012 Sep; 21(18):4126-37. PubMed ID: 22723017
[TBL] [Abstract][Full Text] [Related]
2. A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.
Saini S; Robinson PN; Singh JR; Vanita V
Exp Eye Res; 2012 Nov; 104():82-8. PubMed ID: 23041261
[TBL] [Abstract][Full Text] [Related]
3. A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.
Abu-Safieh L; Vithana EN; Mantel I; Holder GE; Pelosini L; Bird AC; Bhattacharya SS
Mol Vis; 2006 Apr; 12():384-8. PubMed ID: 16636657
[TBL] [Abstract][Full Text] [Related]
4. Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
Rio Frio T; Civic N; Ransijn A; Beckmann JS; Rivolta C
Hum Mol Genet; 2008 Oct; 17(20):3154-65. PubMed ID: 18640990
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
Venturini G; Rose AM; Shah AZ; Bhattacharya SS; Rivolta C
PLoS Genet; 2012; 8(11):e1003040. PubMed ID: 23144630
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A Study into the Evolutionary Divergence of the Core Promoter Elements of
Rose AM; Shah AZ; Alfano G; Bujakowska KM; Barker AF; Robertson JL; Rahman S; Sánchez LV; Diaz-Corrales FJ; Chakarova CF; Krishna A; Bhattacharya SS
J Mol Genet Med; 2013 Aug; 7(2):. PubMed ID: 25729402
[TBL] [Abstract][Full Text] [Related]
11. Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Rose AM; Shah AZ; Venturini G; Krishna A; Chakravarti A; Rivolta C; Bhattacharya SS
Sci Rep; 2016 Jan; 6():19450. PubMed ID: 26781568
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.
Liu JY; Dai X; Sheng J; Cui X; Wang X; Jiang X; Tu X; Tang Z; Bai Y; Liu M; Wang QK
Biochem Biophys Res Commun; 2008 Mar; 367(2):420-6. PubMed ID: 18177735
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein.
Nicoletti A; Kawase K; Thompson DA
Invest Ophthalmol Vis Sci; 1998 Mar; 39(3):637-44. PubMed ID: 9501877
[TBL] [Abstract][Full Text] [Related]
19. Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
Köhn L; Bowne SJ; S Sullivan L; Daiger SP; Burstedt MS; Kadzhaev K; Sandgren O; Golovleva I
Eur J Hum Genet; 2009 May; 17(5):651-5. PubMed ID: 19050727
[TBL] [Abstract][Full Text] [Related]
20. Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
Rose AM; Bhattacharya SS
Clin Genet; 2016 Aug; 90(2):118-26. PubMed ID: 26853529
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
