De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia
Author:
Affiliation:
1. Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
Funder
National Eye Institute
Ophthalmic Genetics Fellowship
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2028299
Reference24 articles.
1. The Hippo pathway effectors TAZ and YAP in development, homeostasis and disease
2. YAP/TAZ at the Roots of Cancer
3. New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders
4. Uveal coloboma: clinical and basic science update
5. High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma
Cited by 4 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. CCN–Hippo YAP signaling in vision and its role in neuronal, glial and vascular cell function and behavior;Journal of Cell Communication and Signaling;2023-05-16
2. The FSGS disease gene product and nuclear pore protein NUP205 regulates nuclear localization and activity of the transcriptional regulators YAP and TAZ in podocytes;2023-03-07
3. Optic cup morphogenesis across species and related inborn human eye defects;Development;2023-01-15
4. ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes;European Journal of Human Genetics;2022-12-01
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