Pre-mRNA splicing in disease and therapeutics.
Pre-mRNA splicing in disease and therapeutics.
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DOI：
10.1016/j.molmed.2012.06.006
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发表时间：
2012-08
影响因子：
13.6
通讯作者：
Cooper TA
中科院分区：
文献类型：
--
作者：
Singh RK;Cooper TA
在后生动物中，基因的选择性剪接对于调节基因表达和促进功能复杂性至关重要。计算预测、比较基因组学和正常和患病组织的转录组分析表明，出乎意料的高比例的疾病是由改变剪接的突变引起的。顺式元件的突变导致基因的错误剪接，从而改变基因功能并导致疾病病理学。核心剪接体因子的突变与血淋巴样肿瘤、视网膜色素变性和1型小头骨发育不良性原始侏儒症（MOPD 1）有关。控制选择性剪接的反式调节因子的突变与自闭症谱系障碍、肌萎缩侧索硬化症（ALS）和各种癌症有关。除了讨论这些突变引起的疾病，本文综述了已出现的治疗方法，以纠正个别基因的剪接或靶向剪接机制。
In metazoans, alternative splicing of genes is essential for regulating gene expression and contributing to functional complexity. Computational predictions, comparative genomics, and transcriptome profiling of normal and diseased tissues indicate an unexpectedly high fraction of diseases are caused by mutations that alter splicing. Mutations in cis elements cause mis-splicing of genes that alter gene function and contribute to disease pathology. Mutations of core spliceosomal factors are associated with hematolymphoid neoplasias, retinitis pigmentosa, and microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Mutations in the trans regulatory factors that control alternative splicing are associated with autism spectrum disorder, amyotrophic lateral sclerosis (ALS), and various cancers. In addition to discussing the disorders caused by these mutations, this review summarizes therapeutic approaches that have emerged to correct splicing of individual genes or target the splicing machinery.
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影响因子：
64.5
作者：
Cooper TA;Wan L;Dreyfuss G
通讯作者：
Dreyfuss G
影响因子：
4.5
作者：
Daughters RS;Tuttle DL;Gao W;Ikeda Y;Moseley ML;Ebner TJ;Swanson MS;Ranum LP
通讯作者：
Ranum LP
影响因子：
3.7
作者：
Chang JG;Yang DM;Chang WH;Chow LP;Chan WL;Lin HH;Huang HD;Chang YS;Hung CH;Yang WK
通讯作者：
Yang WK
影响因子：
168.9
作者：
Cirak, Sebahattin;Arechavala-Gomeza, Virginia;Guglieri, Michela;Feng, Lucy;Torelli, Silvia;Anthony, Karen;Abbs, Stephen;Garralda, Maria Elena;Bourke, John;Wells, Dominic J.;Dickson, George;Wood, Matthew J. A.;Wilton, Steve D.;Straub, Volker;Kole, Ryszard;Shrewsbury, Stephen B.;Sewry, Caroline;Morgan, Jennifer E.;Bushby, Kate;Muntoni, Francesco
通讯作者：
Muntoni, Francesco
影响因子：
5.7
作者：
Albert BJ;McPherson PA;O'Brien K;Czaicki NL;Destefino V;Osman S;Li M;Day BW;Grabowski PJ;Moore MJ;Vogt A;Koide K
通讯作者：
Koide K