Transposable elements in disease-associated cryptic exons
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-009-0752-4.pdf
Reference158 articles.
1. Agalarov SC, Sridhar Prasad G, Funke PM, Stout CD, Williamson JR (2000) Structure of the S15, S6, S18-rRNA complex: assembly of the 30S ribosome central domain. Science 288:107–113
2. Alves S, Mangas M, Prata MJ, Ribeiro G, Lopes L, Ribeiro H, Pinto-Basto J, Lima MR, Lacerda L (2006) Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. J Inherit Metab Dis 29:743–754
3. Ars E, Serra E, de la Luna S, Estivill X, Lazaro C (2000) Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. Nucleic Acids Res 28:1307–1312
4. Aznarez I, Chan EM, Zielenski J, Blencowe BJ, Tsui LC (2003) Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet 12:2031–2040
5. Berget SM (1995) Exon recognition in vertebrate splicing. J Biol Chem 270:2411–2414
Cited by 88 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. PredictingAluexonization in the human genome with a deep learning model;2024-01-04
2. Alu RNA fold links splicing with signal recognition particle proteins;Nucleic Acids Research;2023-06-13
3. Analysis of the Coverage of Alu Elements by Aligned Genomic Reads;Biophysics;2023-06
4. Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome;Journal of the American Society of Nephrology;2022-11-09
5. Alu-minating the Mechanisms Underlying Primate Cortex Evolution;Biological Psychiatry;2022-11
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