PRPF31

PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a human gene.cite web | title = Entrez Gene: PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26121| accessdate = ]

PBB_Summary
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summary_text = Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment. For further background and phenotypic information on RP, see MIM 268000. [supplied by OMIM] cite web | title = Entrez Gene: PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26121| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Tarizzo ML |title=The World Health Organization and the prevention of blindness. |journal=Transactions. Section on Ophthalmology. American Academy of Ophthalmology and Otolaryngology |volume=79 |issue= 3 Pt 2 |pages= OP453–6 |year= 1975 |pmid= 1154573 |doi=
*cite journal | author=al-Maghtheh M, Inglehearn CF, Keen TJ, "et al." |title=Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. |journal=Hum. Mol. Genet. |volume=3 |issue= 2 |pages= 351–4 |year= 1994 |pmid= 8004108 |doi=
*cite journal | author=Al-Maghtheh M, Vithana E, Tarttelin E, "et al." |title=Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. |journal=Am. J. Hum. Genet. |volume=59 |issue= 4 |pages= 864–71 |year= 1996 |pmid= 8808602 |doi=
*cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=
*cite journal | author=Wiemann S, Weil B, Wellenreuther R, "et al." |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701
*cite journal | author=Simpson JC, Wellenreuther R, Poustka A, "et al." |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058
*cite journal | author=Vithana EN, Abu-Safieh L, Allen MJ, "et al." |title=A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). |journal=Mol. Cell |volume=8 |issue= 2 |pages= 375–81 |year= 2001 |pmid= 11545739 |doi=
*cite journal | author=Makarova OV, Makarov EM, Liu S, "et al." |title=Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. |journal=EMBO J. |volume=21 |issue= 5 |pages= 1148–57 |year= 2002 |pmid= 11867543 |doi= 10.1093/emboj/21.5.1148
*cite journal | author=Deery EC, Vithana EN, Newbold RJ, "et al." |title=Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. |journal=Hum. Mol. Genet. |volume=11 |issue= 25 |pages= 3209–19 |year= 2003 |pmid= 12444105 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Martínez-Gimeno M, Gamundi MJ, Hernan I, "et al." |title=Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 5 |pages= 2171–7 |year= 2003 |pmid= 12714658 |doi=
*cite journal | author=Scanlan MJ, Gout I, Gordon CM, "et al." |title=Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression. |journal=Cancer Immun. |volume=1 |issue= |pages= 4 |year= 2003 |pmid= 12747765 |doi=
*cite journal | author=Wang L, Ribaudo M, Zhao K, "et al." |title=Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. |journal=Am. J. Med. Genet. A |volume=121 |issue= 3 |pages= 235–9 |year= 2003 |pmid= 12923864 |doi= 10.1002/ajmg.a.20224
*cite journal | author=Reuter TY, Medhurst AL, Waisfisz Q, "et al." |title=Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport. |journal=Exp. Cell Res. |volume=289 |issue= 2 |pages= 211–21 |year= 2003 |pmid= 14499622 |doi=
*cite journal | author=Vithana EN, Abu-Safieh L, Pelosini L, "et al." |title=Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 10 |pages= 4204–9 |year= 2003 |pmid= 14507862 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Grimwood J, Gordon LA, Olsen A, "et al." |title=The DNA sequence and biology of human chromosome 19. |journal=Nature |volume=428 |issue= 6982 |pages= 529–35 |year= 2004 |pmid= 15057824 |doi= 10.1038/nature02399
*cite journal | author=Xia K, Zheng D, Pan Q, "et al." |title=A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. |journal=Mol. Vis. |volume=10 |issue= |pages= 361–5 |year= 2004 |pmid= 15162096 |doi=
*cite journal | author=Schaffert N, Hossbach M, Heintzmann R, "et al." |title=RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies. |journal=EMBO J. |volume=23 |issue= 15 |pages= 3000–9 |year= 2005 |pmid= 15257298 |doi= 10.1038/sj.emboj.7600296
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504

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