249 related articles for article (PubMed ID: 26853529)
1. 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]
2. Determinants of Disease Penetrance in
McLenachan S; Zhang D; Grainok J; Zhang X; Huang Z; Chen SC; Zaw K; Lima A; Jennings L; Roshandel D; Moon SY; Heath Jeffery RC; Attia MS; Thompson JA; Lamey TM; McLaren TL; De Roach J; Fletcher S; Chen FK
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680937
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the
Ali-Nasser T; Zayit-Soudry S; Banin E; Sharon D; Ben-Yosef T
Mol Vis; 2022; 28():359-368. PubMed ID: 36338669
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. Genetic Modifiers of Non-Penetrance and RNA Expression Levels in
Lisbjerg K; Grønskov K; Bertelsen M; Møller LB; Kessel L
Genes (Basel); 2023 Feb; 14(2):. PubMed ID: 36833363
[TBL] [Abstract][Full Text] [Related]
14. 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]
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. 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]
17. Clinical Evidence for the Importance of the Wild-Type
Roshandel D; Thompson JA; Heath Jeffery RC; Zhang D; Lamey TM; McLaren TL; De Roach JN; McLenachan S; Mackey DA; Chen FK
Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34198599
[No Abstract] [Full Text] [Related]
18. Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.
Dong B; Chen J; Zhang X; Pan Z; Bai F; Li Y
Mol Vis; 2013; 19():2426-35. PubMed ID: 24319336
[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. Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.
Cao L; Peng C; Yu J; Jiang W; Yang J
Mol Genet Genomic Med; 2020 Dec; 8(12):e1537. PubMed ID: 33085829
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
