7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng.3169.pdf
Reference70 articles.
1. Cahan, P. & Daley, G.Q. Origins and implications of pluripotent stem cell variability and heterogeneity. Nat. Rev. Mol. Cell Biol. 14, 357–368 (2013).
2. Sanders, S.J. et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863–885 (2011).
3. Pober, B.R. Williams-Beuren syndrome. N. Engl. J. Med. 362, 239–252 (2010).
4. Somerville, M.J. et al. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N. Engl. J. Med. 353, 1694–1701 (2005).
5. Merla, G., Brunetti-Pierri, N., Micale, L. & Fusco, C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum. Genet. 128, 3–26 (2010).
Cited by 112 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. Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome;2024-08-30
2. Novel CDKL5 targets identified in human iPSC-derived neurons;Cellular and Molecular Life Sciences;2024-08-13
3. Engineering Toxoplasma gondii secretion systems for intracellular delivery of multiple large therapeutic proteins to neurons;Nature Microbiology;2024-07-29
4. Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability;Journal of Clinical Investigation;2024-07-15
5. An iPSC-based model of Jacob Syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with X aneuploid cells;2024-06-21
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