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Items: 1 to 20 of 164

1.
A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31
Janya Grainok, Ianthe L. Pitout, Fred K. Chen, Samuel McLenachan, Rachael C. Heath Jeffery, Chalermchai Mitrpant, Sue Fletcher
Int J Mol Sci. 2024 Mar; 25(6): 3391. Published online 2024 Mar 16. doi: 10.3390/ijms25063391
PMCID:
PMC10970544
AbstractArticlePDF–3.3M
2.
Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells
Maria Georgiou, Chunbo Yang, Robert Atkinson, Kuan‐Ting Pan, Adriana Buskin, Marina Moya Molina, Joseph Collin, Jumana Al‐Aama, Franziska Goertler, Sebastian E. J. Ludwig, Tracey Davey, Reinhard Lührmann, Sushma Nagaraja‐Grellscheid, Colin A. Johnson, Robin Ali, Lyle Armstrong, Viktor Korolchuk, Henning Urlaub, Sina Mozaffari‐Jovin, Majlinda Lako
Clin Transl Med. 2022 Mar; 12(3): e759. Published online 2022 Mar 16. doi: 10.1002/ctm2.759
PMCID:
PMC8926896
AbstractArticlePDF–13M
3.
Molecular genetics of inherited retinal degenerations in Icelandic patients
Daniel A. Thorsteinsson, Vigdis Stefansdottir, Thor Eysteinsson, Sigridur Thorisdottir, Jon J. Jonsson
Clin Genet. 2021 Aug; 100(2): 156–167. Published online 2021 May 7. doi: 10.1111/cge.13967
PMCID:
PMC8360171
AbstractArticlePDF–1.3M
4.
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11
Danial Roshandel, Jennifer A. Thompson, Rachael C. Heath Jeffery, Dan Zhang, Tina M. Lamey, Terri L. McLaren, John N. De Roach, Samuel McLenachan, David A. Mackey, Fred K. Chen
Genes (Basel) 2021 Jun; 12(6): 915. Published online 2021 Jun 14. doi: 10.3390/genes12060915
PMCID:
PMC8232116
AbstractArticlePDF–9.6M
5.
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression
Francesco Paolo Ruberto, Sara Balzano, Prasanthi Namburi, Adva Kimchi, Rosanna Pescini-Gobert, Alexey Obolensky, Eyal Banin, Tamar Ben-Yosef, Dror Sharon, Carlo Rivolta
Mol Vis. 2021; 27: 107–116. Published online 2021 Mar 18.
PMCID:
PMC8056469
AbstractArticlePDF–5.9M
6.
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies
Liliya Nazlamova, N. Simon Thomas, Man-Kim Cheung, Jelmer Legebeke, Jenny Lord, Reuben J. Pengelly, William J. Tapper, Gabrielle Wheway
Hum Genet. 2021; 140(4): 593–607. Published online 2020 Oct 23. doi: 10.1007/s00439-020-02228-1
PMCID:
PMC7981318
AbstractArticlePDF–4.2M
7.
Identification of two novel PRPF31 mutations in Chinese families with non‐syndromic autosomal dominant retinitis pigmentosa
Li Cao, Chunyan Peng, Jing Yu, Wei Jiang, Jiyun Yang
Mol Genet Genomic Med. 2020 Dec; 8(12): e1537. Published online 2020 Oct 21. doi: 10.1002/mgg3.1537
PMCID:
PMC7767543
AbstractArticlePDF–1.2M
8.
PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture
Leila Azizzadeh Pormehr, Shahin Ahmadian, Narsis Daftarian, Seyed Ahmad Mousavi, Mahshid Shafiezadeh
Eur J Hum Genet. 2020 Apr; 28(4): 491–498. Published online 2019 Oct 25. doi: 10.1038/s41431-019-0531-1
PMCID:
PMC7080750
AbstractArticlePDF–1.5M
9.
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy
Gabrielle Wheway, Andrew Douglas, Diana Baralle, Elsa Guillot
Exp Eye Res. 2020 Mar; 192: 107950. doi: 10.1016/j.exer.2020.107950
PMCID:
PMC7065041
AbstractArticle
10.
Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report
Laura Bryant, Olga Lozynska, Anson Marsh, Tyler E Papp, Lucas van Gorder, Leona W Serrano, Xiaowu Gai, Albert M Maguire, MD, Tomas S Aleman, Jean Bennett
Br J Ophthalmol. 2019 Jun; 103(6): 761–767. Published online 2018 Jul 20. doi: 10.1136/bjophthalmol-2017-311405
PMCID:
PMC6582727
AbstractArticlePDF–1.2M
11.
Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa
Kelly Kiser, Kaylie D. Webb-Jones, Sara J. Bowne, Lori S. Sullivan, Stephen P. Daiger, David G. Birch
Am J Ophthalmol. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: Am J Ophthalmol. 2019 Apr; 200: 76–84. Published online 2018 Dec 21. doi: 10.1016/j.ajo.2018.12.009
PMCID:
PMC6481169
AbstractArticlePDF–418K
12.
Course of Ocular Function in PRPF31 Retinitis Pigmentosa
Brian P. Hafler, Jason Comander, Carol Weigel DiFranco, Emily M. Place, Eric A. Pierce
Semin Ophthalmol. Author manuscript; available in PMC 2019 Feb 17.
Published in final edited form as: Semin Ophthalmol. 2016; 31(1-2): 49–52. doi: 10.3109/08820538.2015.1114856
PMCID:
PMC6377939
AbstractArticlePDF–241K
13.
Long noncoding RNA RP11-838N2.4 enhances the cytotoxic effects of temozolomide by inhibiting the functions of miR-10a in glioblastoma cell lines
Yanting Liu, Ningbo Xu, Boyang Liu, Yiru Huang, Huijun Zeng, Zhao Yang, Zhenyan He, Hongbo Guo
Oncotarget. 2016 Jul 12; 7(28): 43835–43851. Published online 2016 May 30. doi: 10.18632/oncotarget.9699
PMCID:
PMC5190063
AbstractArticlePDF–12M
14.
Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa
Wissam Abdulridha-Aboud, Ulrika Kjellström, Sten Andréasson, Vesna Ponjavic
Mol Vis. 2016; 22: 362–373. Published online 2016 May 22.
PMCID:
PMC4860447
AbstractArticlePDF–3.8M
15.
Re-refinement of the spliceosomal U4 snRNP core-domain structure
Jade Li, Adelaine K. Leung, Yasushi Kondo, Chris Oubridge, Kiyoshi Nagai
Acta Crystallogr D Struct Biol. 2016 Jan 1; 72(Pt 1): 131–146. Published online 2016 Jan 1. doi: 10.1107/S2059798315022111
PMCID:
PMC4756616
AbstractArticlePDF–4.1M
16.
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
Anna M. Rose, Amna Z. Shah, Giulia Venturini, Abhay Krishna, Aravinda Chakravarti, Carlo Rivolta, Shomi S. Bhattacharya
Sci Rep. 2016; 6: 19450. Published online 2016 Jan 19. doi: 10.1038/srep19450
PMCID:
PMC4725990
AbstractArticlePDF–913K
17.
Whole Exome Sequencing of a Dominant Retinitis Pigmentosa Family Identifies a Novel Deletion in PRPF31
Adda Villanueva, Jason R. Willer, Julien Bryois, Emmanouil T. Dermitzakis, Nicholas Katsanis, Erica E. Davis
Invest Ophthalmol Vis Sci. 2014 Apr; 55(4): 2121–2129. Published online 2014 Apr 7. doi: 10.1167/iovs.13-13827
PMCID:
PMC3979517
AbstractArticlePDF–908K
18.
Two novel PRPF31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa
Bing Dong, Jieqiong Chen, Xiaohui Zhang, Zhe Pan, Fengge Bai, Yang Li
Mol Vis. 2013; 19: 2426–2435. Published online 2013 Nov 22.
PMCID:
PMC3850970
AbstractArticlePDF–1.7M
19.
A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration
Fang Lu, Lulin Huang, Chuntao Lei, Guiquan Sha, Hong Zheng, Xiaoqi Liu, Jiyun Yang, Yi Shi, Ying Lin, Bo Gong, Xianjun Zhu, Shi Ma, Lifeng Qiao, He Lin, Jing Cheng, Zhenglin Yang
PLoS One. 2013; 8(11): e78274. Published online 2013 Nov 11. doi: 10.1371/journal.pone.0078274
PMCID:
PMC3823919
AbstractArticlePDF–844K
20.
Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
Fei Xu, Ruifang Sui, Xiaofang Liang, Hui Li, Ruxin Jiang, Fangtian Dong
Mol Vis. 2012; 18: 3021–xxx. Published online 2012 Dec 14.
PMCID:
PMC3534138
AbstractArticlePDF–1.1M

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