TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella-Reference-Cited by-同舟云学术

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

Published:2020-02 Issue:2 Volume:106 Page:153-169
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Thomas Lucie,Bouhouche Khaled,Whitfield Marjorie,Thouvenin Guillaume,Coste Andre,Louis Bruno,Szymanski Claire,Bequignon Emilie,Papon Jean-François,Castelli Manon,Lemullois Michel,Dhalluin Xavier,Drouin-Garraud Valérie,Montantin Guy,Tissier Sylvie,Duquesnoy Philippe,Copin Bruno,Dastot Florence,Couvet Sandrine,Barbotin Anne-Laure,Faucon Catherine,Honore Isabelle,Maitre Bernard,Beydon Nicole,Tamalet Aline,Rives Nathalie,Koll France,Escudier Estelle,Tassin Anne-Marie,Touré Aminata,Mitchell Valérie,Amselem Serge,Legendre Marie

Funder

the French National Research Agency

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference63 articles.

1. Diagnosis and management of primary ciliary dyskinesia;Lucas;Arch. Dis. Child.,2014

2. Cilia in vertebrate left-right patterning;Dasgupta;Philos. Trans. R. Soc. Lond. B Biol. Sci.,2016

3. Mutations in DNAH17, encoding a sperm-specific axonemal outer dynein arm heavy chain, cause isolated male infertility due to Asthenozoospermia;Whitfield;Am. J. Hum. Genet.,2019

4. Polarity and asymmetry in the arrangement of dynein and related structures in the Chlamydomonas axoneme;Bui;J. Cell Biol.,2012

5. Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia;Lin;Nat. Commun.,2014

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