The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology
Link
https://link.springer.com/content/pdf/10.1007/s12035-021-02616-2.pdf
Reference48 articles.
1. Suzuki IK et al (2018) Human-specific NOTCH2NL Genes expand cortical neurogenesis through Delta/Notch regulation. Cell 173(6):1370–1384.e16
2. Fiddes IT et al (2018) Human-specific NOTCH2NL genes affect Notch signaling and cortical neurogenesis. Cell 173(6):1356–1369.e22
3. Duan Z et al (2004) A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. Mol Cell Biol 24(1):58–70
4. Lodewijk GA et al (2020) Evolution of human brain size-associated NOTCH2NL genes proceeds toward reduced protein levels. Mol Biol Evol 37(9):2531–2548
5. Fiddes IT et al (2019) Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution. Hum Genet 138(7):715–721
Cited by 32 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. A Patient With Neuronal Intranuclear Inclusion Disease Combined With Hypertension Accompanied by Elevated Catecholamines;American Journal of Hypertension;2024-08-16
2. Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review;Frontiers in Neurology;2024-04-19
3. Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease and NOTCH2NLC -Related GGC Repeat Expansion Disorders;Neurology Genetics;2024-04
4. Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications;Nature Reviews Genetics;2024-03-11
5. Neuronal Intranuclear Inclusion Disease with NOTCH2NLC GGC Repeat Expansion: A Systematic Review and Challenges of Phenotypic Characterization;Aging and disease;2024
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