Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects-Reference-Cited by-同舟云学术

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Published:2013-09 Issue:3 Volume:93 Page:561-570
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kott Esther,Legendre Marie,Copin Bruno,Papon Jean-François,Dastot-Le Moal Florence,Montantin Guy,Duquesnoy Philippe,Piterboth William,Amram Daniel,Bassinet Laurence,Beucher Julie,Beydon Nicole,Deneuville Eric,Houdouin Véronique,Journel Hubert,Just Jocelyne,Nathan Nadia,Tamalet Aline,Collot Nathalie,Jeanson Ludovic,Le Gouez Morgane,Vallette Benoit,Vojtek Anne-Marie,Epaud Ralph,Coste André,Clement Annick,Housset Bruno,Louis Bruno,Escudier Estelle,Amselem Serge

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference54 articles.

1. A human syndrome caused by immotile cilia;Afzelius;Science,1976

2. The immotile-cilia syndrome: a microtubule-associated defect;Afzelius;CRC Crit. Rev. Biochem.,1985

3. Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus;Kartagener;Beiträge zur Klinik der Tuberkulose,1933

4. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia;Pennarun;Am. J. Hum. Genet.,1999

5. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm;Loges;Am. J. Hum. Genet.,2008

Cited by 143 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. Transcriptional analysis of primary ciliary dyskinesia airway cells reveals a dedicated cilia glutathione pathway;JCI Insight;2024-07-23

2. Development of functional spermatozoa in mammalian spermiogenesis;Development;2024-07-15

3. Uncovering a multitude of stage-specific splice variants and putative protein isoforms generated along mouse spermatogenesis;BMC Genomics;2024-03-20

4. Single-cell analysis reveals insights into epithelial abnormalities in ovarian endometriosis;Cell Reports;2024-03

5. Multi-scale structures of the mammalian radial spoke and divergence of axonemal complexes in ependymal cilia;Nature Communications;2024-01-08