Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist.
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
https://link.springer.com/content/pdf/10.1007/s40620-020-00890-2.pdf
Reference9 articles.
1. De S, Kuwahara S, Saito A (2014) The endocytic receptor megalin and its associated proteins in proximal tubule epithelial cells. Membranes 4:333–355. https://doi.org/10.3390/membranes4030333
2. Storm T, Tranebjærg L, Frykholm C, Birn H, Verroust PJ, Nevéus T, Sundelin B, Hertz JM, Holmström G, Ericson K, Christensen EI, Nielsen R (2013) Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. Nephrol Dial Transplant 28:585–591. https://doi.org/10.1093/ndt/gfs462
3. Dachy A, Paquot F, Debray G, Bovy C, Christensen EI, Collard L, Jouret F (2015) In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction. Pediatr Nephrol 30:1027–1031. https://doi.org/10.1007/s00467-014-3037-7
4. Flemming J, Marczenke M, Rudolph IM, Nielsen R, Storm T, Erik IC, Diecke S, Emma F, Willnow TE (2020) Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Kidney Int 98:159–167. https://doi.org/10.1016/j.kint.2020.02.021
5. Johannes L, Popoff V (2008) Tracing the retrograde route in protein trafficking. Cell 135:1175–1187. https://doi.org/10.1016/j.cell.2008.12.009
Cited by 2 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. Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia;Frontiers in Genetics;2023-01-27
2. Low molecular weight proteinuria, congenital myopia and hearing loss in a 10-year-old boy: Answers;Pediatric Nephrology;2023-01-23
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