156 related articles for article (PubMed ID: 31654038)
1. PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.
Azizzadeh Pormehr L; Ahmadian S; Daftarian N; Mousavi SA; Shafiezadeh M
Eur J Hum Genet; 2020 Apr; 28(4):491-498. PubMed ID: 31654038
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.
Ivings L; Towns KV; Matin MA; Taylor C; Ponchel F; Grainger RJ; Ramesar RS; Mackey DA; Inglehearn CF
Mol Vis; 2008; 14():2357-66. PubMed ID: 19096719
[TBL] [Abstract][Full Text] [Related]
5. Human organotypic retinal flat-mount culture (HORFC) as a model for retinitis pigmentosa11.
Azizzadeh Pormehr L; Daftarian N; Ahmadian S; Rezaei Kanavi M; Ahmadieh H; Shafiezadeh M
J Cell Biochem; 2018 Aug; 119(8):6775-6783. PubMed ID: 29744916
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
Tanackovic G; Ransijn A; Thibault P; Abou Elela S; Klinck R; Berson EL; Chabot B; Rivolta C
Hum Mol Genet; 2011 Jun; 20(11):2116-30. PubMed ID: 21378395
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.
Linder B; Dill H; Hirmer A; Brocher J; Lee GP; Mathavan S; Bolz HJ; Winkler C; Laggerbauer B; Fischer U
Hum Mol Genet; 2011 Jan; 20(2):368-77. PubMed ID: 21051334
[TBL] [Abstract][Full Text] [Related]
13. Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
Georgiou M; Yang C; Atkinson R; Pan KT; Buskin A; Molina MM; Collin J; Al-Aama J; Goertler F; Ludwig SEJ; Davey T; Lührmann R; Nagaraja-Grellscheid S; Johnson CA; Ali R; Armstrong L; Korolchuk V; Urlaub H; Mozaffari-Jovin S; Lako M
Clin Transl Med; 2022 Mar; 12(3):e759. PubMed ID: 35297555
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.
Farkas MH; Lew DS; Sousa ME; Bujakowska K; Chatagnon J; Bhattacharya SS; Pierce EA; Nandrot EF
Am J Pathol; 2014 Oct; 184(10):2641-52. PubMed ID: 25111227
[TBL] [Abstract][Full Text] [Related]
17. Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.
Wang J; Xiao X; Li S; Jiang H; Sun W; Wang P; Zhang Q
Acta Ophthalmol; 2022 Nov; 100(7):e1412-e1425. PubMed ID: 35138024
[TBL] [Abstract][Full Text] [Related]
18. Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.
Cao H; Wu J; Lam S; Duan R; Newnham C; Molday RS; Graziotto JJ; Pierce EA; Hu J
PLoS One; 2011 Jan; 6(1):e15860. PubMed ID: 21283520
[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. 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]
[Next] [New Search]
