Primary Ciliary Dyskinesia Associated Disease-Causing Variants in <i>CCDC39</i> and <i>CCDC40</i> Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in <i>CCDC39</i> and <i>CCDC40</i> Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7

Disease-causing bi-allelic DNA variants in <i>CCDC39</i> and <i>CCDC40</i> are frequent causes of the hereditary disorder of primary ciliary dyskinesia (PCD). The encoded proteins form a molecular ruler complex, crucial for maintaining the 96 nm repeat units along the ciliary...

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Bibliographic Details
Main Authors: Alina Wilken, Inga Marlena Höben, Alexander Wolter, Niki Tomas Loges, Heike Olbrich, Isabella Aprea, Bernd Dworniczak, Johanna Raidt, Heymut Omran
Format: Article
Language:English
Published: MDPI AG 2024-07-01
Series:Cells
Subjects:
PCD
motile cilia
ruler
IDA
diagnostics
axonemal disorganization
Online Access:https://www.mdpi.com/2073-4409/13/14/1200

Internet

https://www.mdpi.com/2073-4409/13/14/1200

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