Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Author:

Grampa Valentina,Delous Marion,Zaidan Mohamad,Odye Gweltas,Thomas Sophie,Elkhartoufi Nadia,Filhol Emilie,Niel Olivier,Silbermann Flora,Lebreton Corinne,Collardeau-Frachon Sophie,Rouvet Isabelle,Alessandri Jean-Luc,Devisme Louise,Dieux-Coeslier Anne,Cordier Marie-Pierre,Capri Yline,Khung-Savatovsky Suonavy,Sigaudy Sabine,Salomon Rémi,Antignac Corinne,Gubler Marie-Claire,Benmerah Alexandre,Terzi Fabiola,Attié-Bitach Tania,Jeanpierre Cécile,Saunier Sophie

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference49 articles.

1. Clinical spectrum and pathogenesis of nephronophthisis;T Benzing;Current opinion in nephrology and hypertension,2012

2. Nephronophthisis and related syndromes;MT Wolf;Current opinion in pediatrics,2015

3. Defective planar cell polarity in polycystic kidney disease;E Fischer;Nature genetics,2006

4. Current insights into renal ciliopathies: what can genetics teach us?;HH Arts;Pediatric nephrology,2013

5. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis;EA Otto;Journal of the American Society of Nephrology: JASN,2008

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

同舟云学术

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