Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference41 articles.
1. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome;Liaw;Nat Genet,1997
2. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome;Marsh;Hum Mol Genet,1999
3. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway;Zhou;Am J Hum Genet,2003
4. More than just a bump: the hamartoma syndromes;Witman;Adv Dermatol,2006
5. Cancer phenomics: RET and PTEN as illustrative models;Zbuk;Nat Rev Cancer,2007
Cited by 75 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. Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease;The American Journal of Human Genetics;2024-07
2. Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome;American Journal of Clinical Pathology;2024-01-11
3. PTEN and Cancer;Reference Module in Life Sciences;2024
4. Alterations of the AKT Pathway in Sporadic Human Tumors, Inherited Susceptibility to Cancer, and Overgrowth Syndromes;Current Topics in Microbiology and Immunology;2024
5. Regional-specific calibration enables application of bioinformatic evidence for clinical classification of 5’ cis-regulatory variants in Mendelian disease;2023-12-24
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