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Article

Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2023

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, Omran Heymut

Abstract excerpt

PURPOSE: 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. METHODS: In addition to studies in mouse and planaria, clinical...

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Axonemal Dyneins
Axoneme
Calcium-Binding Proteins
Cilia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Cystic Fibrosis Research Advances

Kartagener Syndrome

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PMID: 36727596
DOI: 10.1016/j.gim.2023.100798

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Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.PMID 36727596Read ↗

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