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Items: 1 to 20 of 70

1.

Transcriptome analyses to investigate the pathogenesis of RNA splicing factor retinitis pigmentosa.

Farkas MH, Grant GR, Pierce EA.

Adv Exp Med Biol. 2012;723:519-25. doi: 10.1007/978-1-4614-0631-0_65. Review. No abstract available.

PMID:
22183372
2.

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.

3.

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.

4.

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.

Wilkie SE, Vaclavik V, Wu H, Bujakowska K, Chakarova CF, Bhattacharya SS, Warren MJ, Hunt DM.

Mol Vis. 2008 Apr 18;14:683-90.

5.

Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.

Utz VM, Beight CD, Marino MJ, Hagstrom SA, Traboulsi EI.

Ophthalmic Genet. 2013 Dec;34(4):183-8. doi: 10.3109/13816810.2012.762932. Epub 2013 Jan 23. Review.

PMID:
23343310
6.

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.

7.

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
8.

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.

Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M.

Am J Ophthalmol. 2005 Sep;140(3):537-40.

PMID:
16139010
9.

Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.

Wang L, Ribaudo M, Zhao K, Yu N, Chen Q, Sun Q, Wang L, Wang Q.

Am J Med Genet A. 2003 Sep 1;121A(3):235-9.

10.

Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.

Hernan I, Gamundi MJ, Planas E, Borràs E, Maseras M, Carballo M.

Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3723-9. doi: 10.1167/iovs.10-6933.

PMID:
21357407
11.

Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).

Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF.

Hum Mutat. 1999;13(2):141-5.

PMID:
10094550
12.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C.

Mol Vis. 2014 Jun 18;20:843-51. eCollection 2014.

13.

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.

14.

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andréasson S, Swaroop A.

Am J Hum Genet. 1997 Sep;61(3):571-80.

15.

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
16.

Pre-mRNA splicing and human disease.

Faustino NA, Cooper TA.

Genes Dev. 2003 Feb 15;17(4):419-37. Review. No abstract available.

17.

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS.

Mol Cell. 2001 Aug;8(2):375-81.

18.

Gene symbol: RPGR. Disease: Retinitis Pigmentosa.

Giménez A, Riveiro R, Trujillo-Tiebas MJ, Aguirre J, Avila A, García-Hoyos M, Ayuso C.

Hum Genet. 2008 Oct;124(3):303. No abstract available.

PMID:
18846630
19.

The splicing factor BBP interacts specifically with the pre-mRNA branchpoint sequence UACUAAC.

Berglund JA, Chua K, Abovich N, Reed R, Rosbash M.

Cell. 1997 May 30;89(5):781-7.

20.

Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.

Gu S, Lennon A, Li Y, Lorenz B, Fossarello M, North M, Gal A, Wright A.

Lancet. 1998 Apr 11;351(9109):1103-4. No abstract available.

PMID:
9660588

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