| 1 | PRPF3, PRPF31, PRPF4, PRPF6, RP11, RP13, RP18, RP33, RP60, RP70, SNRNP200
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| Mutations in spliceosomal proteins and retina degeneration.
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| Růžičková Š, Staněk D.
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| RNA Biol NA Biol. 2016 Jun 14:1-9. [Epub ahead of print]
2016
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| 2 | PRPF31, RP11
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| Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
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| Abdulridha-Aboud W, Kjellström U, Andréasson S, Ponjavic V.
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| Mol Vis 22:362-73.
2016
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| 3 | PRPF31, RP11
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| Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
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| Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA.
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| Semin Ophthalmol 31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. Review.
2016
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| 4 | PRPF3, PRPF31, PRPF8, RP11, RP13, RP18
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| Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.
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| Farkas MH, Lew DS, Sousa ME, Bujakowska K, Chatagnon J, Bhattacharya SS, Pierce EA, Nandrot EF.
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| Am J Pathol 184(10):2641-52. doi: 10.1016/j.ajpath.2014.06.026.
2014
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| 5 | PRPF31, RP11
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| Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
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| Rose AM, Shah AZ, Venturini G, Rivolta C, Rose GE, Bhattacharya SS.
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| Ann Hum Genet 78(1):62-71. doi: 10.1111/ahg.12042.
2014
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| 6 | PRPF31, RP11
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| Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.
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| Dong B, Chen J, Zhang X, Pan Z, Bai F, Li Y.
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| Mol Vis 19:2426-35.
2013
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| 7 | PRPF31, RP11, TFPT
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| Expression of PRPF31 and TFPT: regulation in health and retinal disease.
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| Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS.
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| Hum Mol Genet 21(18):4126-37. doi: 10.1093/hmg/dds242.
2012
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| 8 | PRPF3, PRPF31, PRPF8, RP11, RP13, RP18
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| PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
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| Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C.
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| Hum Mol Genet 20(11):2116-30. Epub 2011 Mar 5.
2011
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| 9 | PRPF31, RP11
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| Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
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| Köhn L, Bowne SJ, S Sullivan L, Daiger SP, Burstedt MS, Kadzhaev K, Sandgren O, Golovleva I.
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| Eur J Hum Genet 17(5):651-5. Epub 2008 Dec 3.
2009
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| 10 | PRPF31, RP11
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| A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs.
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| Huranová M, Hnilicová J, Fleischer B, Cvacková Z, Stanek D.
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| Hum Mol Genet 18(11):2014-23. Epub 2009 Mar 17.
2009
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| 11 | RP9, RP11, RP13, RP18, PRPF3, PRPF8, PRPF31
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| Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
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| Gamundi MJ, Hernan I, Muntanyola M, Maseras M, L—pez-Romero P, Alvarez R, Dopazo A, Borrego S, Carballo M.
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| Hum Mutat 29(6):869-78. 2008
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| 12 | PRPF31, RP11
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| Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
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| Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C.
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| J Clin Invest 118(4):1519-31.PMID: 18317597 2008
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| 13 | PRPF31, RP11
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| Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.
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| Wilkie SE, Vaclavik V, Wu H, Bujakowska K, Chakarova CF, Bhattacharya SS, Warren MJ, Hunt DM.
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| Mol Vis 14:683-90.PMID: 18431455 2008
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| 14 | PRPF31,RP11
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| Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
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| Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS.
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| Invest Ophthalmol Vis Sci 48(3):1330-4. 2007
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| 15 | PRPF31, RP11
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| Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
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| Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP.
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| Hum Mutat 27(7):644-53. 2006
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| 16 | PRPF31,RP11
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| A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.
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| Abu-Safieh L, Vithana EN, Mantel I, Holder GE, Pelosini L, Bird AC, Bhattacharya SS.
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| Mol Vis 12:384-8. 2006
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| 17 | PRPF31,RP11
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| Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
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| Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP.
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| Invest Ophthalmol Vis Sci 47(10):4579-88. 2006
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| 18 | PRPF31,RP11
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| A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP).
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| Wilkie SE, Morris KJ, Bhattacharya SS, Warren MJ, Hunt DM.
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| Biochim Biophys Acta 1762(3):304-11. Epub 2006 Jan 4. 2006
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| 19 | PRPF31, RHO, RP11
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| Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
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| Yuan L, Kawada M, Havlioglu N, Tang H, Wu JY.
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| J Neurosci 25(3):748-57. 2005
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| 20 | PRPF31, RP11
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| Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.
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| Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M.
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| Am J Ophthalmol 140(3):537-40. 2005
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| 21 | PRPF31,RP11
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| A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
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| Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J.
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| Mol Vis 10:361-5. 2004
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| 22 | PRPF31, RP11
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| Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.
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| Wang L, Ribaudo M, Zhao K, Yu N, Chen Q, Sun Q, Wang L, Wang Q.
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| Am J Med Genet 121A(3):235-9. 2003
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| 23 | RP11, PRPF31
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| Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
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| Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS.
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| Invest Ophthalmol Vis Sci 44(10):4204-9. 2003
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| 24 | PRPF31, RP11
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| Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
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| Deery EC, Vithana EN, Newbold RJ, Gallon VA, Bhattacharya SS, Warren MJ, Hunt DM, Wilkie SE.
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| Hum Mol Genet 11(25):3209-19. 2002
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| 25 | RP4, RP11
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| A linkage survey of 20 dominant retinitis pigmentosa families : frequencies of the nine known loci and evidence for further heterogeneity.
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| Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, al-Maghtheh M, Vithana E, Bird AC, Bhattacharya SS.
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| J Med Genet 35(1):1-5. 1998
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| 26 | RP11
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| RP11 is the second most common locus for dominant retinitis pigmentosa.
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| Vithana E, et al.
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| J Med Genet 35 : 174-176. 1998
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| 27 | PRKCG, RP11
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| Segregation of a PRKCG mutation in two RP11 families.
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| Al-Maghtheh M, et al.
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| Am J Hum Genet 62 : 1248-1252. 1998
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| 28 | RP11
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| Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.
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| McGee TL, Devoto M, Ott J, Berson EL, Dryja TP.
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| Am J Hum Genet 61(5):1059-66. 1997
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| 29 | RP11
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| Evidence for a major retinitis pigmentosa locus on 19p13.4 (RP11), and association with a unique bimodal expressivity phenotype.
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| Al-Maghtheh M, et al.
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| Am J Hum Genet 59 : 864-871. 1996
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| 30 | RP11
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| Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.
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| Evans K, et al.
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| Br J Ophthalmol 79 : 841-846. 1995
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| 31 | RP11, PRPF31
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| Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
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| Al-Maghtheh M, et al.
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| Hum Mol Genet 3 : 351-354. 1994
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