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Items: 1 to 20 of 58

1.
2.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

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.

Hum Mutat. 2010 May;31(5):E1361-76. doi: 10.1002/humu.21236.

PMID:
20232351
3.

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C.

Am J Hum Genet. 2009 Nov;85(5):617-27. doi: 10.1016/j.ajhg.2009.09.020. Epub 2009 Oct 29.

4.

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. doi: 10.1167/iovs.08-3275. Epub 2009 Jul 2.

PMID:
19578015
5.

Nuclear architecture of rod photoreceptor cells adapts to vision in mammalian evolution.

Solovei I, Kreysing M, Lanctôt C, Kösem S, Peichl L, Cremer T, Guck J, Joffe B.

Cell. 2009 Apr 17;137(2):356-68. doi: 10.1016/j.cell.2009.01.052.

6.

The spliceosome: design principles of a dynamic RNP machine.

Wahl MC, Will CL, Lührmann R.

Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009. Review.

7.

Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.

Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Review.

PMID:
18632300
8.

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration.

Graziotto JJ, Inglehearn CF, Pack MA, Pierce EA.

Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3830-8. doi: 10.1167/iovs.07-1483. Epub 2008 Jun 14.

PMID:
18552388
9.

Altered visual function in monocarboxylate transporter 3 (Slc16a8) knockout mice.

Daniele LL, Sauer B, Gallagher SM, Pugh EN Jr, Philp NJ.

Am J Physiol Cell Physiol. 2008 Aug;295(2):C451-7. doi: 10.1152/ajpcell.00124.2008. Epub 2008 Jun 4.

10.

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.

11.

Local dystrophin restoration with antisense oligonucleotide PRO051.

van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, van der Kooi AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ, van Ommen GJ.

N Engl J Med. 2007 Dec 27;357(26):2677-86.

12.

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy.

Aartsma-Rus A, Janson AA, van Ommen GJ, van Deutekom JC.

BMC Med Genet. 2007 Jul 5;8:43.

13.

Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.

Comitato A, Spampanato C, Chakarova C, Sanges D, Bhattacharya SS, Marigo V.

Hum Mol Genet. 2007 Jul 15;16(14):1699-707. Epub 2007 May 20.

PMID:
17517693
14.

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1330-4.

PMID:
17325180
15.

Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study.

Xu L, Hu L, Ma K, Li J, Jonas JB.

Eur J Ophthalmol. 2006 Nov-Dec;16(6):865-6.

PMID:
17191195
16.

Retinitis pigmentosa.

Hartong DT, Berson EL, Dryja TP.

Lancet. 2006 Nov 18;368(9549):1795-809. Review.

PMID:
17113430
17.

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.

18.

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88.

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.

20.

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP.

Hum Mutat. 2006 Jul;27(7):644-53.

PMID:
16708387

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