Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility-Reference-Cited by-同舟云学术

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Published:2016-08 Issue:2 Volume:99 Page:489-500
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

El Khouri Elma,Thomas Lucie,Jeanson Ludovic,Bequignon Emilie,Vallette Benoit,Duquesnoy Philippe,Montantin Guy,Copin Bruno,Dastot-Le Moal Florence,Blanchon Sylvain,Papon Jean François,Lorès Patrick,Yuan Li,Collot Nathalie,Tissier Sylvie,Faucon Catherine,Gacon Gérard,Patrat Catherine,Wolf Jean Philippe,Dulioust Emmanuel,Crestani Bruno,Escudier Estelle,Coste André,Legendre Marie,Touré Aminata,Amselem Serge

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference36 articles.

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

2. Overview of structure and function of mammalian cilia;Satir;Annu. Rev. Physiol.,2007

3. Flagellar radial spoke: a model molecular genetic system for studying organelle assembly;Curry;Cell Motil. Cytoskeleton,1993

4. The radial spokes and central apparatus: mechano-chemical transducers that regulate flagellar motility;Smith;Cell Motil. Cytoskeleton,2004

5. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia;Papon;Eur. Respir. J.,2010

Cited by 83 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. Development of functional spermatozoa in mammalian spermiogenesis;Development;2024-07-15

2. Primary Ciliary Dyskinesia: A Clinical Review;Cells;2024-06-04

3. BAG5 regulates HSPA8-mediated protein folding required for sperm head-tail coupling apparatus assembly;EMBO Reports;2024-03-07

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

5. Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs;Journal of Clinical Medicine;2023-10-13