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Results: 20

1.
2.

A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.

Lu F, Huang L, Lei C, Sha G, Zheng H, Liu X, Yang J, Shi Y, Lin Y, Gong B, Zhu X, Ma S, Qiao L, Lin H, Cheng J, Yang Z.

PLoS One. 2013 Nov 11;8(11):e78274. doi: 10.1371/journal.pone.0078274. eCollection 2013.

PMID:
24244300
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.

Xu F, Sui R, Liang X, Li H, Jiang R, Dong F.

Mol Vis. 2012;18:3021-xxx. Epub 2012 Dec 14.

PMID:
23288994
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.

Yin J, Brocher J, Fischer U, Winkler C.

Mol Neurodegener. 2011 Jul 30;6:56. doi: 10.1186/1750-1326-6-56.

PMID:
21801444
[PubMed]
Free PMC Article
5.

Native homing endonucleases can target conserved genes in humans and in animal models.

Barzel A, Privman E, Peeri M, Naor A, Shachar E, Burstein D, Lazary R, Gophna U, Pupko T, Kupiec M.

Nucleic Acids Res. 2011 Aug;39(15):6646-59. doi: 10.1093/nar/gkr242. Epub 2011 Apr 27.

PMID:
21525128
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.

Audo I, Bujakowska K, Mohand-Saïd S, Lancelot ME, Moskova-Doumanova V, Waseem NH, Antonio A, Sahel JA, Bhattacharya SS, Zeitz C.

BMC Med Genet. 2010 Oct 12;11:145. doi: 10.1186/1471-2350-11-145. Review.

PMID:
20939871
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.

Vaclavik V, Gaillard MC, Tiab L, Schorderet DF, Munier FL.

Mol Vis. 2010 Mar 19;16:467-75.

PMID:
20309403
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.

Golovleva I, Köhn L, Burstedt M, Daiger S, Sandgren O.

Adv Exp Med Biol. 2010;664:255-62. doi: 10.1007/978-1-4419-1399-9_29.

PMID:
20238024
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Distinct genetic alterations in colorectal cancer.

Ashktorab H, Schäffer AA, Daremipouran M, Smoot DT, Lee E, Brim H.

PLoS One. 2010 Jan 26;5(1):e8879. doi: 10.1371/journal.pone.0008879.

PMID:
20126641
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8.

Maeder C, Kutach AK, Guthrie C.

Nat Struct Mol Biol. 2009 Jan;16(1):42-8. doi: 10.1038/nsmb.1535. Epub 2008 Dec 21.

PMID:
19098916
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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. Epub 2008 Dec 18.

PMID:
19096719
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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. doi: 10.1038/ejhg.2008.223. Epub 2008 Dec 3.

PMID:
19050727
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

Gandra M, Anandula V, Authiappan V, Sundaramurthy S, Raman R, Bhattacharya S, Govindasamy K.

Mol Vis. 2008 Jun 14;14:1105-13.

PMID:
18552984
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C.

J Clin Invest. 2008 Apr;118(4):1519-31. doi: 10.1172/JCI34211.

PMID:
18317597
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.

Boon KL, Grainger RJ, Ehsani P, Barrass JD, Auchynnikava T, Inglehearn CF, Beggs JD.

Nat Struct Mol Biol. 2007 Nov;14(11):1077-83. Epub 2007 Oct 14.

PMID:
17934474
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.

Ghazawy S, Springell K, Gauba V, McKibbin MA, Inglehearn CF.

Br J Ophthalmol. 2007 Oct;91(10):1411-3. No abstract available.

PMID:
17895420
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Crystal structure of the C-terminal domain of splicing factor Prp8 carrying retinitis pigmentosa mutants.

Zhang L, Shen J, Guarnieri MT, Heroux A, Yang K, Zhao R.

Protein Sci. 2007 Jun;16(6):1024-31. Epub 2007 May 1.

PMID:
17473007
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Pre-mRNA splicing and retinitis pigmentosa.

Mordes D, Luo X, Kar A, Kuo D, Xu L, Fushimi K, Yu G, Sternberg P Jr, Wu JY.

Mol Vis. 2006 Oct 26;12:1259-71. Review.

PMID:
17110909
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64.

PMID:
16799052
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Prp8 protein: at the heart of the spliceosome.

Grainger RJ, Beggs JD.

RNA. 2005 May;11(5):533-57. Review.

PMID:
15840809
[PubMed - indexed for MEDLINE]
Free PMC Article

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