PubMed for id: 228480235

Year	Number of Results
2002	1
2005	1
2007	1
2009	1
2011	1
2019	2
2020	1
2021	1
2022	1
2024	1

1

Genetic determinants of micronucleus formation in vivo.

Adams DJ, Barlas B, McIntyre RE, Salguero I, van der Weyden L, Barros A, Vicente JR, Karimpour N, Haider A, Ranzani M, Turner G, Thompson NA, Harle V, Olvera-León R, Robles-Espinoza CD, Speak AO, Geisler N, Weninger WJ, Geyer SH, Hewinson J, Karp NA; Sanger Mouse Genetics Project; Fu B, Yang F, Kozik Z, Choudhary J, Yu L, van Ruiten MS, Rowland BD, Lelliott CJ, Del Castillo Velasco-Herrera M, Verstraten R, Bruckner L, Henssen AG, Rooimans MA, de Lange J, Mohun TJ, Arends MJ, Kentistou KA, Coelho PA, Zhao Y, Zecchini H, Perry JRB, Jackson SP, Balmus G. Adams DJ, et al. Nature. 2024 Mar;627(8002):130-136. doi: 10.1038/s41586-023-07009-0. Epub 2024 Feb 14. Nature. 2024. PMID: 38355793 Free PMC article.

2

PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.

Xiao X, Ling F, Chen CB, Liang J, Cao Y, Xu Y, Chen H. Xiao X, et al. Biochem Biophys Res Commun. 2022 Nov 12;629:12-16. doi: 10.1016/j.bbrc.2022.08.090. Epub 2022 Sep 5. Biochem Biophys Res Commun. 2022. PMID: 36088804

3

Mice deficient in UXT exhibit retinitis pigmentosa-like features via aberrant autophagy activation.

Pan M, Yin Y, Wang X, Wang Q, Zhang L, Hu H, Wang C. Pan M, et al. Autophagy. 2021 Aug;17(8):1873-1888. doi: 10.1080/15548627.2020.1796015. Epub 2020 Aug 2. Autophagy. 2021. PMID: 32744119 Free PMC article.

4

Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.

Valdés-Sánchez L, Calado SM, de la Cerda B, Aramburu A, García-Delgado AB, Massalini S, Montero-Sánchez A, Bhatia V, Rodríguez-Bocanegra E, Diez-Lloret A, Rodríguez-Martínez D, Chakarova C, Bhattacharya SS, Díaz-Corrales FJ. Valdés-Sánchez L, et al. Mol Med. 2019 Dec 31;26(1):1. doi: 10.1186/s10020-019-0124-z. Mol Med. 2019. PMID: 31892304 Free PMC article.

5

Retinal Pigment Epithelial Cells: The Unveiled Component in the Etiology of Prpf Splicing Factor-Associated Retinitis Pigmentosa.

Hamieh A, Nandrot EF. Hamieh A, et al. Adv Exp Med Biol. 2019;1185:227-231. doi: 10.1007/978-3-030-27378-1_37. Adv Exp Med Biol. 2019. PMID: 31884616

6

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. Graziotto JJ, et al. Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):190-8. doi: 10.1167/iovs.10-5194. Print 2011 Jan. Invest Ophthalmol Vis Sci. 2011. PMID: 20811066 Free PMC article.

7

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. Bujakowska K, et al. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5927-33. doi: 10.1167/iovs.08-3275. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578015

8

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. Mordes D, et al. Neurobiol Dis. 2007 May;26(2):291-300. doi: 10.1016/j.nbd.2006.08.026. Epub 2007 Mar 9. Neurobiol Dis. 2007. PMID: 17350276 Free PMC article.

9

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. Yuan L, et al. J Neurosci. 2005 Jan 19;25(3):748-57. doi: 10.1523/JNEUROSCI.2399-04.2005. J Neurosci. 2005. PMID: 15659613 Free PMC article.

10

Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing.

Makarova OV, Makarov EM, Liu S, Vornlocher HP, Lührmann R. Makarova OV, et al. EMBO J. 2002 Mar 1;21(5):1148-57. doi: 10.1093/emboj/21.5.1148. EMBO J. 2002. PMID: 11867543 Free PMC article.

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