• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

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

作者信息

Farkas Michael H, Grant Greg R, Pierce Eric A

机构信息

Ocular Genomics Institute, Berman Gund Laboratory, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, 243 Charles St., Boston, MA 02114, USA.

出版信息

Adv Exp Med Biol. 2012;723:519-25. doi: 10.1007/978-1-4614-0631-0_65.

DOI:10.1007/978-1-4614-0631-0_65
PMID:22183372
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6387625/
Abstract
摘要

相似文献

1
Transcriptome analyses to investigate the pathogenesis of RNA splicing factor retinitis pigmentosa.转录组分析以研究视网膜色素变性RNA剪接因子的发病机制。
Adv Exp Med Biol. 2012;723:519-25. doi: 10.1007/978-1-4614-0631-0_65.
2
Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.对患有剪接因子性视网膜色素变性患者的淋巴母细胞系中剪接效率的评估。
Mol Vis. 2008;14:2357-66. Epub 2008 Dec 18.
3
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.西班牙常染色体显性视网膜色素变性家族中前体mRNA剪接因子基因PRPF3、PRPF8和PRPF31的突变
Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. doi: 10.1167/iovs.02-0871.
4
Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.由剪接因子基因PRPF31中的错义突变引起的视网膜色素变性（RP11）的疾病机制。
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.由前体mRNA剪接因子基因PRPF31（RP11）导致的常染色体显性视网膜色素变性：疾病机制综述及一个具有新型3个碱基对插入的家系报告
Ophthalmic Genet. 2013 Dec;34(4):183-8. doi: 10.3109/13816810.2012.762932. Epub 2013 Jan 23.
6
Pre-mRNA splicing and retinitis pigmentosa.前体mRNA剪接与视网膜色素变性
Mol Vis. 2006 Oct 26;12:1259-71.
7
Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing.常染色体显性遗传视网膜色素变性相关基因 PRPF8 通过调控 ULK1 mRNA 剪接对于缺氧诱导的线粒体自噬是必需的。
Autophagy. 2018;14(10):1818-1830. doi: 10.1080/15548627.2018.1501251. Epub 2018 Aug 13.
8
Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa.通过剪接体介导的RNA反式剪接修复视紫红质mRNA：常染色体显性遗传性视网膜色素变性的一种新方法。
Mol Ther. 2015 May;23(5):918-930. doi: 10.1038/mt.2015.11. Epub 2015 Jan 26.
9
Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.日本常染色体显性遗传性视网膜色素变性家族中前体mRNA剪接基因PRPF31的突变
Am J Ophthalmol. 2005 Sep;140(3):537-40. doi: 10.1016/j.ajo.2005.02.050.
10
Course of Ocular Function in PRPF31 Retinitis Pigmentosa.PRPF31视网膜色素变性患者的眼功能病程
Semin Ophthalmol. 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856.

引用本文的文献

1
Cellular transcriptomics: gelsolin negatively regulates the expression of apoptosis-associated genes and inhibits apoptosis in hepatocarcinoma cells.细胞转录组学：凝溶胶蛋白负向调节凋亡相关基因的表达并抑制肝癌细胞凋亡。
Int J Clin Exp Pathol. 2015 Nov 1;8(11):13871-85. eCollection 2015.
2
RNA-Seq: Improving Our Understanding of Retinal Biology and Disease.RNA测序：增进我们对视网膜生物学与疾病的理解
Cold Spring Harb Perspect Med. 2015 Feb 26;5(9):a017152. doi: 10.1101/cshperspect.a017152.
3
A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.一种导致视网膜色素变性的剪接因子突变对mRNA剪接具有全转录组范围的影响。
BMC Res Notes. 2014 Jun 27;7:401. doi: 10.1186/1756-0500-7-401.
4
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.中国视网膜色素变性家系中前体mRNA剪接基因的突变分析。
Mol Vis. 2014 Jun 2;20:770-9. eCollection 2014.
5
Parallel comparison of Illumina RNA-Seq and Affymetrix microarray platforms on transcriptomic profiles generated from 5-aza-deoxy-cytidine treated HT-29 colon cancer cells and simulated datasets.Illumina RNA-Seq 和 Affymetrix 微阵列平台在 5-aza-去氧胞苷处理的 HT-29 结肠癌细胞和模拟数据集产生的转录组图谱上的平行比较。
BMC Bioinformatics. 2013;14 Suppl 9(Suppl 9):S1. doi: 10.1186/1471-2105-14-S9-S1. Epub 2013 Jun 28.

本文引用的文献

1
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.三种 RNA 剪接因子 RP 的基因靶向小鼠模型显示出晚发性 RPE 和视网膜变性。
Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):190-8. doi: 10.1167/iovs.10-5194. Print 2011 Jan.
2
Cloud-scale RNA-sequencing differential expression analysis with Myrna.利用 Myrna 进行云规模 RNA-seq 差异表达分析。
Genome Biol. 2010;11(8):R83. doi: 10.1186/gb-2010-11-8-r83. Epub 2010 Aug 11.
3
A survey of sequence alignment algorithms for next-generation sequencing.下一代测序序列比对算法综述。
Brief Bioinform. 2010 Sep;11(5):473-83. doi: 10.1093/bib/bbq015. Epub 2010 May 11.
4
Digital transcriptome profiling from attomole-level RNA samples.从飞摩尔级 RNA 样本进行数字转录组谱分析。
Genome Res. 2010 Apr;20(4):519-25. doi: 10.1101/gr.102129.109. Epub 2010 Feb 4.
5
Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat.人诱导多能干细胞来源的视网膜色素上皮细胞移植对视网膜变性大鼠的保护作用。
PLoS One. 2009 Dec 3;4(12):e8152. doi: 10.1371/journal.pone.0008152.
6
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.由SNRNP200基因（U4/U6小核RNA解旋所需基因）突变引起的常染色体显性视网膜色素变性。
Am J Hum Genet. 2009 Nov;85(5):617-27. doi: 10.1016/j.ajhg.2009.09.020. Epub 2009 Oct 29.
7
Next-generation gap.下一代差距。
Nat Methods. 2009 Nov;6(11 Suppl):S2-5. doi: 10.1038/nmeth.f.268.
8
Derivation of functional retinal pigmented epithelium from induced pluripotent stem cells.诱导多能干细胞分化为功能性视网膜色素上皮细胞。
Stem Cells. 2009 Oct;27(10):2427-34. doi: 10.1002/stem.189.
9
Short-read sequencing technologies for transcriptional analyses.用于转录分析的短读长测序技术。
Annu Rev Plant Biol. 2009;60:305-33. doi: 10.1146/annurev.arplant.043008.092032.
10
Current-generation high-throughput sequencing: deepening insights into mammalian transcriptomes.当代高通量测序：深化对哺乳动物转录组的认识
Genes Dev. 2009 Jun 15;23(12):1379-86. doi: 10.1101/gad.1788009.