| A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31. | A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.
Grainok J, Pitout IL, Chen FK, McLenachan S, Heath Jeffery RC, Mitrpant C, Fletcher S., Free PMC Article | 04/2/2024 |
| Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. | Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
Fritze JS, Stiehler FF, Wolfrum U., Free PMC Article | 01/11/2024 |
| Long Noncoding RNA RP11-89K21.1 Interacts with miR-146a/b-5p to Promote Proliferation and Gefitinib Resistance Through Regulating RHPN2 and RhoA/ROCK Pathway in Lung Adenocarcinoma. | Long Noncoding RNA RP11-89K21.1 Interacts with miR-146a/b-5p to Promote Proliferation and Gefitinib Resistance Through Regulating RHPN2 and RhoA/ROCK Pathway in Lung Adenocarcinoma.
Chen H, Shen D, Zhu F, Ou Q, Cheng L, Zhu Y. | 06/9/2023 |
| Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up. | Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up.
Lisbjerg K, Bertelsen M, Lyng Forman J, Grønskov K, Prener Holtan J, Kessel L. | 03/28/2023 |
| Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus. | Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus.
Chen Z, Chen J, Gao M, Liu Y, Wu Y, Wang Y, Gong Y, Yu S, Liu W, Wan X, Sun X. | 12/17/2022 |
| PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization. | 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. | 10/8/2022 |
| LncRNA RP11805J14.5 functions as a ceRNA to regulate CCND2 by sponging miR34b3p and miR1395p in lung adenocarcinoma. | LncRNA RP11‑805J14.5 functions as a ceRNA to regulate CCND2 by sponging miR‑34b‑3p and miR‑139‑5p in lung adenocarcinoma.
Zhu H, Xu X, Zheng E, Ni J, Jiang X, Yang M, Zhao G., Free PMC Article | 07/30/2022 |
| Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells. | Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
Georgiou M, Yang C, Atkinson R, Pan KT, Buskin A, Molina MM, Collin J, Al-Aama J, Goertler F, Ludwig SEJ, Davey T, Lührmann R, Nagaraja-Grellscheid S, Johnson CA, Ali R, Armstrong L, Korolchuk V, Urlaub H, Mozaffari-Jovin S, Lako M., Free PMC Article | 05/21/2022 |
| Determinants of Disease Penetrance in PRPF31-Associated Retinopathy. | Determinants of Disease Penetrance in PRPF31-Associated Retinopathy.
McLenachan S, Zhang D, Grainok J, Zhang X, Huang Z, Chen SC, Zaw K, Lima A, Jennings L, Roshandel D, Moon SY, Heath Jeffery RC, Attia MS, Thompson JA, Lamey TM, McLaren TL, De Roach J, Fletcher S, Chen FK., Free PMC Article | 02/12/2022 |
| Molecular genetics of inherited retinal degenerations in Icelandic patients. | Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA, Stefansdottir V, Eysteinsson T, Thorisdottir S, Jonsson JJ., Free PMC Article | 01/1/2022 |
| Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11. | Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11.
Roshandel D, Thompson JA, Heath Jeffery RC, Zhang D, Lamey TM, McLaren TL, De Roach JN, McLenachan S, Mackey DA, Chen FK., Free PMC Article | 12/18/2021 |
| Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression. | Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
Ruberto FP, Balzano S, Namburi P, Kimchi A, Pescini-Gobert R, Obolensky A, Banin E, Ben-Yosef T, Sharon D, Rivolta C., Free PMC Article | 11/6/2021 |
| Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. | Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy.
Roshandel D, Thompson JA, Charng J, Zhang D, Chelva E, Arunachalam S, Attia MS, Lamey TM, McLaren TL, De Roach JN, Mackey DA, Wilton SD, Fletcher S, McLenachan S, Chen FK. | 09/4/2021 |
| A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression. | A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression.
Yang D, Yao Q, Li Y, Xu Y, Wang J, Zhao H, Liu F, Zhang Z, Liu Y, Bie X, Wang Y, Xu L, Luan Y, Yang S, Yang G, He Y. | 07/24/2021 |
| Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa. | Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.
Cao L, Peng C, Yu J, Jiang W, Yang J., Free PMC Article | 06/26/2021 |
| PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture. | PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.
Azizzadeh Pormehr L, Ahmadian S, Daftarian N, Mousavi SA, Shafiezadeh M., Free PMC Article | 05/1/2021 |
| A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies. | A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Nazlamova L, Thomas NS, Cheung MK, Legebeke J, Lord J, Pengelly RJ, Tapper WJ, Wheway G., Free PMC Article | 04/3/2021 |
| ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes following painful laser stimulation correlate with laser-evoked potential amplitude and habituation in healthy subjects: A pilot study. | ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes following painful laser stimulation correlate with laser-evoked potential amplitude and habituation in healthy subjects: A pilot study.
Santoro M, Vollono C, Pazzaglia C, Di Sipio E, Giordano R, Padua L, Arendt-Nielsen L, Valeriani M. | 11/28/2020 |
| Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. | Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G, Douglas A, Baralle D, Guillot E., Free PMC Article | 10/24/2020 |
| In a mouse model containing the p.A216P mutation in Prpf31, study found mislocalization and aggregation of the mutant Prpf31 protein with concomitant depletion of normal protein. These results indicate mixed haploinsufficiency and dominant negative mechanisms involved in retinal degeneration due to mutations in PRPF31. | 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., Free PMC Article | 06/20/2020 |
| c.590T>C is a novel pathogenic variant in PRPF31 causing adRP with incomplete penetrance. Disease may be due to protein misfolding and associated abnormal protein trafficking to the nucleus. | Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report.
Bryant L, Lozynska O, Marsh A, Papp TE, van Gorder L, Serrano LW, Gai X, Maguire AM, Aleman TS, Bennett J., Free PMC Article | 12/21/2019 |
| PRPF31-mediated retinitis pigmentosa is characterized by a variable age of onset. Once disease develops, it follows a predictable exponential time course. | Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa.
Kiser K, Webb-Jones KD, Bowne SJ, Sullivan LS, Daiger SP, Birch DG., Free PMC Article | 12/14/2019 |
| Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa. | Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
Wu Z, Zhong M, Li M, Huang H, Liao J, Lu A, Guo K, Ma N, Lin J, Duan J, Liu L, Xu F, Zhong Z, Chen J. | 10/5/2019 |
| The present study demonstrated that lncRNA RP11-397A15.4 was highly expressed in GC tissues and may serve as a potential diagnostic and prognostic biomarker for Gastric Cancer. | Increased Expression of Lncrna RP11-397A15.4 in Gastric Cancer and Its Clinical Significance.
Chen H, Xu Z, Liu X, Gao Y, Wang J, Qian P, Yang B. | 04/13/2019 |
| The results indicate that Sf3A2 and Prp31 directly regulate interactions among kinetochores, spindle microtubules and the Ndc80 complex in both Drosophila and human cells. | Splicing factors Sf3A2 and Prp31 have direct roles in mitotic chromosome segregation.
Pellacani C, Bucciarelli E, Renda F, Hayward D, Palena A, Chen J, Bonaccorsi S, Wakefield JG, Gatti M, Somma MP., Free PMC Article | 03/16/2019 |