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Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

作者信息

Baralle Diana, Lucassen Anneke, Buratti Emanuele

机构信息

Human Genetics Division, University of Southampton School of Medicine, Southampton, UK.

出版信息

EMBO Rep. 2009 Aug;10(8):810-6. doi: 10.1038/embor.2009.170.

DOI:10.1038/embor.2009.170
PMID:19648957
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2726684/
Abstract
摘要

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本文引用的文献

1
Alternative splicing and disease.可变剪接与疾病
Biochim Biophys Acta. 2009 Jan;1792(1):14-26. doi: 10.1016/j.bbadis.2008.09.017. Epub 2008 Oct 17.
2
Rapid generation of splicing reporters with pSpliceExpress.利用pSpliceExpress快速生成剪接报告基因。
Gene. 2008 Dec 31;427(1-2):104-10. doi: 10.1016/j.gene.2008.09.021. Epub 2008 Oct 1.
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Frame that gene. A tool for analysing and classifying the communication of genetics to the public.构建该基因框架。一种分析和分类遗传学与公众沟通情况的工具。
EMBO Rep. 2008 Oct;9(10):943-7. doi: 10.1038/embor.2008.176. Epub 2008 Sep 5.
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Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?致病性剪接突变的诊断：生物信息学是否涵盖了所有方面？
Front Biosci. 2008 May 1;13:3252-72. doi: 10.2741/2924.
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Substances that can change alternative splice-site selection.能够改变可变剪接位点选择的物质。
Biochem Soc Trans. 2008 Jun;36(Pt 3):483-90. doi: 10.1042/BST0360483.
6
Evaluation of in silico splice tools for decision-making in molecular diagnosis.用于分子诊断决策的电子剪接工具评估
Hum Mutat. 2008 Jul;29(7):975-82. doi: 10.1002/humu.20765.
7
Splicing in disease: disruption of the splicing code and the decoding machinery.疾病中的剪接：剪接密码与解码机制的破坏
Nat Rev Genet. 2007 Oct;8(10):749-61. doi: 10.1038/nrg2164. Epub 2007 Aug 29.
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Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications.反义介导的外显子跳跃：一种具有治疗和研究应用的通用工具。
RNA. 2007 Oct;13(10):1609-24. doi: 10.1261/rna.653607. Epub 2007 Aug 7.
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Modulating the expression of disease genes with RNA-based therapy.通过基于RNA的疗法调节疾病基因的表达。
PLoS Genet. 2007 Jun;3(6):e109. doi: 10.1371/journal.pgen.0030109.
10
Searching for IRES.寻找内部核糖体进入位点
RNA. 2006 Oct;12(10):1755-85. doi: 10.1261/rna.157806. Epub 2006 Sep 6.