Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 103

1.

Alternative splicing and retinal degeneration.

Liu MM, Zack DJ.

Clin Genet. 2013 Aug;84(2):142-9. doi: 10.1111/cge.12181. Epub 2013 Jun 5. Review.

PMID:
23647439
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.

Gamundi MJ, Hernan I, Muntanyola M, Maseras M, López-Romero P, Alvarez R, Dopazo A, Borrego S, Carballo M.

Hum Mutat. 2008 Jun;29(6):869-78. doi: 10.1002/humu.20747.

PMID:
18412284
[PubMed - indexed for MEDLINE]
3.

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M.

Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7.

PMID:
12714658
[PubMed - indexed for MEDLINE]
Free Article
4.

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C.

Hum Mol Genet. 2011 Jun 1;20(11):2116-30. doi: 10.1093/hmg/ddr094. Epub 2011 Mar 5.

PMID:
21378395
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.

Graziotto JJ, Farkas MH, Bujakowska K, Deramaudt BM, Zhang Q, Nandrot EF, Inglehearn CF, Bhattacharya SS, Pierce EA.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):190-8. doi: 10.1167/iovs.10-5194. Print 2011 Jan.

PMID:
20811066
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
7.

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.

Mordes D, Yuan L, Xu L, Kawada M, Molday RS, Wu JY.

Neurobiol Dis. 2007 May;26(2):291-300. Epub 2007 Mar 9.

PMID:
17350276
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa.

Schmidt-Kastner R, Yamamoto H, Hamasaki D, Yamamoto H, Parel JM, Schmitz C, Dorey CK, Blanks JC, Preising MN.

Mol Vis. 2008 Jan 25;14:125-35.

PMID:
18334927
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.

Cvačková Z, Matějů D, Staněk D.

Hum Mutat. 2014 Mar;35(3):308-17. doi: 10.1002/humu.22481. Epub 2013 Dec 2.

PMID:
24302620
[PubMed - indexed for MEDLINE]
10.

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS.

Hum Mol Genet. 2002 Jan 1;11(1):87-92.

PMID:
11773002
[PubMed - indexed for MEDLINE]
Free Article
11.

Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.

Cao H, Wu J, Lam S, Duan R, Newnham C, Molday RS, Graziotto JJ, Pierce EA, Hu J.

PLoS One. 2011 Jan 19;6(1):e15860. doi: 10.1371/journal.pone.0015860.

PMID:
21283520
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
Free Article
13.

Mutation- and tissue-specific alterations of RPGR transcripts.

Schmid F, Glaus E, Cremers FP, Kloeckener-Gruissem B, Berger W, Neidhardt J.

Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1628-35. doi: 10.1167/iovs.09-4031. Epub 2009 Oct 15.

PMID:
19834030
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
Free Article
15.

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
16.

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.

Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W.

Hum Genet. 2001 Sep;109(3):271-8.

PMID:
11702207
[PubMed - indexed for MEDLINE]
17.

Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.

Yuan L, Kawada M, Havlioglu N, Tang H, Wu JY.

J Neurosci. 2005 Jan 19;25(3):748-57.

PMID:
15659613
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).

Zeiss CJ, Ray K, Acland GM, Aguirre GD.

Hum Mol Genet. 2000 Mar 1;9(4):531-7.

PMID:
10699176
[PubMed - indexed for MEDLINE]
Free Article
19.

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
20.

A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J.

Mol Vis. 2004 May 20;10:361-5.

PMID:
15162096
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk