Modulating gene regulation to treat genetic disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Drug Discovery,Pharmacology,General Medicine
Link
https://www.nature.com/articles/s41573-020-0083-7.pdf
Reference184 articles.
1. Landrum, M. J. et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 44, D862–D868 (2016).
2. Matharu, N. et al. CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency. Science 363, eaau0629 (2019). This study is the first to highlight the utility of CRISPRa upregulation as a therapeutic approach to rescue a haploinsufficient disease using both transgenic and AAV targeting of either a promoter or enhancer in postnatal mouse models of obesity.
3. Rehm, H. L. et al. ClinGen—the Clinical Genome Resource. N. Engl. J. Med. 372, 2235–2242 (2015).
4. Elkon, R. & Agami, R. Characterization of noncoding regulatory DNA in the human genome. Nat. Biotechnol. 35, 732–746 (2017).
5. Chatterjee, S. & Ahituv, N. Gene regulatory elements, major drivers of human disease. Annu. Rev. Genomics Hum. Genet. 18, 45–63 (2017).
Cited by 50 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. The art of designed coiled-coils for the regulation of mammalian cells;Cell Chemical Biology;2024-08
2. Drug product Formulation and Fill/Finish Manufacturing Process Considerations for AAV-Based Genomic Medicines;Journal of Pharmaceutical Sciences;2024-07
3. Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia;Nature Communications;2024-06-13
4. Genetic regulation of cell type–specific chromatin accessibility shapes brain disease etiology;Science;2024-05-24
5. Advances in computational and experimental approaches for deciphering transcriptional regulatory networks;BioEssays;2024-05-08
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