The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair
Author:
Publisher
Elsevier BV
Subject
Cancer Research,Oncology
Reference42 articles.
1. Mammalian DNA mismatch repair;Buermeyer;Annu. Rev. Genet.,1999
2. DNA mismatch repair and genetic instability;Harfe;Annu. Rev. Genet.,2000
3. DNA mismatch repair: molecular mechanisms and biological function;Schofield;Annu. Rev. Microbiol.,2003
4. Mismatch repair and DNA damage signaling;Stojic;DNA Repair,2004
5. DNA mismatch repair;A Kunkel;Annu. Rev. Biochem.,2005
Cited by 31 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. PMS2 variant results in loss of ATPase activity without compromising mismatch repair;Molecular Genetics & Genomic Medicine;2022-02-21
2. A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing;Cell Death & Disease;2021-09
3. Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination;Journal of Biological Chemistry;2020-12
4. Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome;Familial Cancer;2018-11-26
5. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers;Genetics in Medicine;2016-04
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