Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Published:2018-12 Issue:6 Volume:103 Page:995-1008
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Loges Niki T.,Antony Dinu,Maver Ales,Deardorff Matthew A.,Güleç Elif Yýlmaz,Gezdirici Alper,Nöthe-Menchen Tabea,Höben Inga M.,Jelten Lena,Frank Diana,Werner Claudius,Tebbe Johannes,Wu Kaman,Goldmuntz Elizabeth,Čuturilo Goran,Krock Bryan,Ritter Alyssa,Hjeij Rim,Bakey Zeineb,Pennekamp Petra,Dworniczak Bernd,Brunner Han,Peterlin Borut,Tanidir Cansaran,Olbrich Heike,Omran Heymut,Schmidts Miriam

Funder

Deutsche Forschungsgemeinschaft

DFG KFO

IZKF Muenster

European Union seventh FP

University of Muenster Medical School

Radboudumc

RIMLS Nijmegen

European Research Council

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. When cilia go bad: cilia defects and ciliopathies;Fliegauf;Nat. Rev. Mol. Cell Biol.,2007

2. The 9 + 2 axoneme anchors multiple inner arm dyneins and a network of kinases and phosphatases that control motility;Porter;J. Cell Biol.,2000

3. The role of preassembled cytoplasmic complexes in assembly of flagellar dynein subunits;Fowkes;Mol. Biol. Cell,1998

4. Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes;Pazour;J. Med. Genet.,2006

5. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia;Fliegauf;Am. J. Respir. Crit. Care Med.,2005

Cited by 102 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. A novel compound heterozygous mutation in the DNAH9 gene causes primary ciliary dyskinesia;QJM: An International Journal of Medicine;2024-08-08

2. Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis;Pediatric Nephrology;2024-08-05

3. Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7;Cells;2024-07-15

4. Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population;Frontiers in Genetics;2024-07-10

5. Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants;iScience;2024-07

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