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

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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Main Authors: 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
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-08-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008691

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https://doi.org/10.1371/journal.pgen.1008691

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