Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng.3229.pdf
Reference42 articles.
1. Lin, C. et al. Dynamic transcriptional events in embryonic stem cells mediated by the super elongation complex (SEC). Genes Dev. 25, 1486–1498 (2011).
2. Yamaguchi, Y., Shibata, H. & Handa, H. Transcription elongation factors DSIF and NELF: promoter-proximal pausing and beyond. Biochim. Biophys. Acta 1829, 98–104 (2013).
3. Heidemann, M., Hintermair, C., Voß, K. & Eick, D. Dynamic phosphorylation patterns of RNA polymerase II CTD during transcription. Biochim. Biophys. Acta 1829, 55–62 (2013).
4. Lin, C. et al. AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia. Mol. Cell 37, 429–437 (2010).
5. Liu, J. & Krantz, I.D. Cornelia de Lange syndrome, cohesin, and beyond. Clin. Genet. 76, 303–314 (2009).
Cited by 106 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. Molecular landscape of congenital vertebral malformations: recent discoveries and future directions;Orphanet Journal of Rare Diseases;2024-01-30
2. Acromegaloid facial appearance with generalised hypertrichosis: A novel phenotype of AFF4 mutation;Indian Journal of Dermatology, Venereology and Leprology;2024-01-03
3. Transcriptional elongation control in developmental gene expression, aging, and disease;Molecular Cell;2023-11
4. AFF4 regulates osteogenic potential of human periodontal ligament stem cells via mTOR‐ULK1‐autophagy axis;Cell Proliferation;2023-09-20
5. Context-dependent perturbations in chromatin folding and the transcriptome by cohesin and related factors;Nature Communications;2023-09-19
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