| 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 | 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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| 3 | 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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| 4 | PRPF8, RP13
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| Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
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| Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF.
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| Hum Mutat 31(5):E1361-76.
2010
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| 5 | 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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| 6 | PRPF8, RP13
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| prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.
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| Boon KL, Grainger RJ, Ehsani P, Barrass JD, Auchynnikava T, Inglehearn CF, Beggs JD.
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| Nat Struct Mol Biol 14(11):1077-1083. Epub 2007 Oct 14. 2007
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| 7 | PRPF8, RP13
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| Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
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| van Lith-Verhoeven JJ, van der Velde-Visser SD, Sohocki MM, Deutman AF, Brink HM, Cremers FP, Hoyng CB.
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| Ophthalmic Genet 23(1):1-12. 2002
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| 8 | SERPINF1, RP13
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| Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus.
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| McHale JC, McKie AB, Tarttelin EE, Inglehearn CF.
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| Cytogenet Cell Genet 88(3-4):225-9. 2000
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| 9 | RP13
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| Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.
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| Kojis TL, et al.
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| Am J Hum Genet 58 : 347-355. 1996
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| 10 | RP13
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| A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
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| Tarttelin EE, et al.
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| J Med Genet 33 : 518-520. 1996
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| 11 | RP13
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| Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p.
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| Goliath R, et al.
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| Am J Hum Genet 57 : 962-965. 1995
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| 12 | RP13
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| A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.
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| Greenberg J, et al.
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| Hum Mol Genet 3 : 915-918. 1994
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