The splicing machinery is a genetic modifier of disease severity
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference26 articles.
1. Pre-mRNA splicing and human disease;Faustino;Genes Dev.,2003
2. Listening to silence and understanding nonsense: exonic mutations that affect splicing;Cartegni;Nat. Rev. Genet.,2002
3. Splicing regulation as a potential genetic modifier;Nissim-Rafinia;Trends Genet.,2002
4. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2);Hofmann;Proc. Natl. Acad. Sci. U. S. A.,2000
5. Tau exons 2 and 10, which are misregulated in neurodegenerative diseases, are partly regulated by silencers which bind a complex comprised of SRp30c and SRp55 that either recruits or antagonizes htra2beta 1;Wang;J Biol Chem,2005
Cited by 68 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Oligonucleotide-based therapies for cystic fibrosis;Current Opinion in Pharmacology;2022-10
2. The Impact of Air Pollution on the Course of Cystic Fibrosis: A Review;Frontiers in Physiology;2022-06-02
3. Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits;The American Journal of Human Genetics;2022-01
4. Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10 kb C-to-T splicing mutation;Journal of Cystic Fibrosis;2021-09
5. Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10kb C-to-T splicing mutation;2021-02-14
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3