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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Hlavní autoři:	Ximena M Bustamante-Marin, Amjad Horani, Mihaela Stoyanova, Wu-Lin Charng, Mathieu Bottier, Patrick R Sears, Wei-Ning Yin, Leigh Anne Daniels, Hailey Bowen, Donald F Conrad, Michael R Knowles, Lawrence E Ostrowski, Maimoona A Zariwala, Susan K Dutcher
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Public Library of Science (PLoS) 2020-08-01
Edice:	PLoS Genetics
On-line přístup:	https://doi.org/10.1371/journal.pgen.1008691
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