Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Reference40 articles.
1. Interactions between heparan sulfate and proteins: the concept of specificity;Kreuger;J Cell Biol,2006
2. Specificities of heparan sulphate proteoglycans in developmental processes;Perrimon;Nature,2000
3. Heparan sulfate proteoglycans regulate Fgf signaling and cell polarity during collective cell migration;Venero Galanternik;Cell Rep,2015
4. Wnt signaling and cell-matrix adhesion;Astudillo;Curr Mol Med,2014
5. Cell surface heparan sulfate chains regulate local reception of FGF signaling in the mouse embryo;Shimokawa;Dev Cell,2011
Cited by 27 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. The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study;Human Mutation;2024-02-12
2. Knockout of the intellectual disability-linked gene Hs6st2 in mice decreases heparan sulfate 6-O-sulfation, impairs dendritic spines of hippocampal neurons, and affects memory;Glycobiology;2023-11-28
3. Structural basis for heparan sulfate co-polymerase action by the EXT1–2 complex;Nature Chemical Biology;2023-01-02
4. Equivocal evidence for a link between megalencephaly-related genes and primate brain size evolution;Scientific Reports;2022-06-28
5. Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?;Clinical Dysmorphology;2022-01-17
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