A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep44165.pdf
Reference32 articles.
1. Hoffman, J. I., Kaplan, S. & Liberthson, P. R. Prevalence of congenital heart disease. Am. Heart J. 147, 425–439 (2004).
2. Johnson, T. R. Conotruncal cardiac defects: a clinical imaging perspective. Pediatr. Cardiol. 31, 430–437 (2010).
3. Guo, T. et al. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum. Mutat. 32, 1278–1289 (2011).
4. Chapman, D. L. et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev. Dyn. 206, 379–390 (1996).
5. Vitelli, F., Morishima, M., Taddei, I., Lindsay, E. A. & Baldini, A. Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet. 11, 915–922 (2002).
Cited by 2 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. Effects of a proteasome inhibitor on the riboflavin production in Ashbya gossypii;Journal of Applied Microbiology;2021-09-17
2. A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication;Journal of Translational Medicine;2018-09-21
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