Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, reduced fertility, and randomization of the left/right body axis. It is caused by defects of motile cilia and sperm flagella. We screened a cohort of affected individuals that lack an obvious axonemal defect for pathogenic...

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Vydáno v:PLoS Genet
Hlavní autoři: Bustamante-Marin, Ximena M., Horani, Amjad, Stoyanova, Mihaela, Charng, Wu-Lin, Bottier, Mathieu, Sears, Patrick R., Yin, Wei-Ning, Daniels, Leigh Anne, Bowen, Hailey, Conrad, Donald F., Knowles, Michael R., Ostrowski, Lawrence E., Zariwala, Maimoona A., Dutcher, Susan K.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2020
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7444499/
https://ncbi.nlm.nih.gov/pubmed/32764743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008691
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