Variants in RET Associated With Hirschsprung's Disease Affect Binding of Transcription Factors and Gene Expression
Author:
Publisher
Elsevier BV
Subject
Gastroenterology,Hepatology
Reference24 articles.
1. Hirsch sprung disease, associated syndromes and genetics: a review;Amiel;J Med Genet,2008
2. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus;Bolk;Proc Natl Acad Sci U S A,2000
3. A segregation at three loci explains familial and population risk in Hirschsprung disease;Gabriel;Nat Genet,2002
4. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10;Angrist;Nat Genet,1993
5. Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression;Borrego;J Med Genet,1999
Cited by 38 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. RET enhancer haplotype-dependent remodeling of the human fetal gut development program;PLOS Genetics;2023-11-10
2. Susceptibility of PCSK2 Polymorphism to Hirschsprung Disease in Southern Chinese Children;Clinical and Experimental Gastroenterology;2023-05
3. The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases;BMC Medical Genomics;2022-04-01
4. The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications;Frontiers in Pediatrics;2021-08-05
5. Associations between common genetic variants in microRNAs and Hirschsprung disease susceptibility in Southern Chinese children;The Journal of Gene Medicine;2021-01-07
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