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Items: 1 to 20 of 131

1.

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.

2.

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
3.

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.

Rio Frio T, Civic N, Ransijn A, Beckmann JS, Rivolta C.

Hum Mol Genet. 2008 Oct 15;17(20):3154-65. doi: 10.1093/hmg/ddn212. Epub 2008 Jul 18.

PMID:
18640990
4.

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
5.

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.

Hum Mutat. 2009 Sep;30(9):1340-7. doi: 10.1002/humu.21071.

6.

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.

7.

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.

Saini S, Robinson PN, Singh JR, Vanita V.

Exp Eye Res. 2012 Nov;104:82-8. doi: 10.1016/j.exer.2012.09.010. Epub 2012 Oct 3.

PMID:
23041261
8.

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS.

Hum Mol Genet. 2012 Sep 15;21(18):4126-37. doi: 10.1093/hmg/dds242. Epub 2012 Jun 20.

PMID:
22723017
9.

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.

10.

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C.

PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8.

11.

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4204-9.

PMID:
14507862
12.

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Martin-Merida I, Sanchez-Alcudia R, Fernandez-San Jose P, Blanco-Kelly F, Perez-Carro R, Rodriguez-Jacy da Silva L, Almoguera B, Garcia-Sandoval B, Lopez-Molina MI, Avila-Fernandez A, Carballo M, Corton M, Ayuso C.

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1045-1053. doi: 10.1167/iovs.16-20515.

PMID:
28192796
13.

PRPF31 alternative splicing and expression in human retina.

Tanackovic G, Rivolta C.

Ophthalmic Genet. 2009 Jun;30(2):76-83. doi: 10.1080/13816810902744621.

PMID:
19373678
14.

Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.

Rose AM, Bhattacharya SS.

Clin Genet. 2016 Aug;90(2):118-26. doi: 10.1111/cge.12758. Epub 2016 Mar 4. Review.

PMID:
26853529
15.

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.

16.

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.

17.

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.

Villanueva A, Willer JR, Bryois J, Dermitzakis ET, Katsanis N, Davis EE.

Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2121-9. doi: 10.1167/iovs.13-13827.

18.

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
19.

Course of Ocular Function in PRPF31 Retinitis Pigmentosa.

Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA.

Semin Ophthalmol. 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. Review.

PMID:
26959129
20.

Gene of the month: PRPF31.

Rose AM, Luo R, Radia UK, Bhattacharya SS.

J Clin Pathol. 2017 Sep;70(9):729-732. doi: 10.1136/jclinpath-2016-203971. Epub 2017 Jun 29. Review.

PMID:
28663330

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