Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects-Reference-Cited by-同舟云学术

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

Published:2009-12 Issue:6 Volume:85 Page:883-889
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 Tomas,Olbrich Heike,Becker-Heck Anita,Häffner Karsten,Heer Angelina,Reinhard Christina,Schmidts Miriam,Kispert Andreas,Zariwala Maimoona A.,Leigh Margaret W.,Knowles Michael R.,Zentgraf Hanswalter,Seithe Horst,Nürnberg Gudrun,Nürnberg Peter,Reinhardt Richard,Omran Heymut

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference19 articles.

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

2. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein;Nonaka;Cell,1998

3. Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation;Ibanez-Tallon;Hum. Mol. Genet.,2004

4. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry;Olbrich;Nat. Genet.,2002

5. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations;Schwabe;Hum. Mutat.,2008

Cited by 195 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 mutation in PCD‐associated gene DNAAF3 causes male infertility due to asthenozoospermia;Journal of Cellular and Molecular Medicine;2023-08-03

2. Primary Ciliary Dyskinesia - An Update on the Genetics of Underlying Pathological Mechanisms;Current Respiratory Medicine Reviews;2023-08

3. Primary ciliary dyskinesia;Rare Diseases of the Respiratory System;2023-06-01

4. DNALI1 interacts with the MEIG1/PACRG complex within the manchette and is required for proper sperm flagellum assembly in mice;eLife;2023-04-21

5. Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences;Respiratory Medicine;2023-04