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Your search keyword '"Aprea, Isabella"' showing total 1 results
Start Over Author "Aprea, Isabella" Publication Type Magazines
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1. Pathogenic variants in CLXNencoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Author

Hjeij, Rim, Aprea, Isabella, Poeta, Marco, Nöthe-Menchen, Tabea, Bracht, Diana, Raidt, Johanna, Honecker, Barbara I., Dougherty, Gerard W., Olbrich, Heike, Schwartz, Oliver, Keller, Ulrike, Nüsse, Harald, Diderich, Karin E.M., Vogelberg, Christian, Santamaria, Francesca, and Omran, Heymut

Abstract

Primary ciliary dyskinesia (PCD) is a heterogeneous disorder that includes respiratory symptoms, laterality defects, and infertility caused by dysfunction of motile cilia. Most PCD-causing variants result in abnormal outer dynein arms (ODAs), which provide the generative force for respiratory ciliary beating and proper mucociliary clearance.

Published
2023
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