WDR73-related galloway mowat syndrome with collapsing glomerulopathy
Author:
Funder
Tunisian Ministry of Higher Education and Scientific Research
Ministry of Health
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference20 articles.
1. Current views on collapsing glomerulopathy;Albaqumi;J. Am. Soc. Nephrol.,2008
2. Collapsing glomerulopathy: expanding interest in a shrinking tuft;AY;Am. J. Kidney Dis.,1999
3. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome;Ben-Omran;J. Med. Genet.,2015
4. Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome microcephaly;Braun;Nat. Genet.,2017
5. Mutations in WDR4 as a new cause of Galloway–Mowat syndrome;Braun;Am. J. Med. Genet.,2018
Cited by 7 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. WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration;2024-01-23
2. Two non-familial cases of Galloway-Mowat syndrome carrying the homozygous mutations of WDR73 and TP53RK;Scientia Medica;2023-10-17
3. Novel TP53RK variants cause varied clinical features of Galloway–Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients;Frontiers in Molecular Neuroscience;2023-02-16
4. Neurological involvement in monogenic podocytopathies;Pediatric Nephrology;2021-03-31
5. Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations;Scientific Reports;2021-03-08
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