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

Cilia and flagella are evolutionarily conserved organelles whose motility relies on the outer and inner dynein arm complexes (ODAs and IDAs). Defects in ODAs and IDAs result in primary ciliary dyskinesia (PCD), a disease characterized by recurrent airway infections and male infertility. PCD mutation...

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Bibliografiska uppgifter
I publikationen:Am J Hum Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2020
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7011118/
https://ncbi.nlm.nih.gov/pubmed/31978331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.12.010
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