Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia

Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia

Summary: Pathogenic variants in KIAA0586/TALPID3 are associated with the ciliopathy Joubert syndrome (JS). We report individuals with KIAA0586/TALPID3 variants affected by primary and motile cilia defects leading to JS and chronic destructive airway disease. DNA variants were detected in three famil...

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Main Authors: Jacqueline E. Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D’Abrusco, Bert Van der Zwaag, Maike Möller, Thomas Lücke, Norbert Teig, Ulrika Lindberg, Kai Wohlgemuth, Julia Wallmeier, Anja Blanque, Christos Gatsogiannis, Sebastian George, Christoph Jüschke, Marta Owczarek-Lipska, Dorothee Veer, Hester Y. Kroes, Enza Maria Valente, G. Christoph Korenke, Heymut Omran, John Neidhardt
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:iScience
Subjects:
Cell biology
Cellular physiology
Human Genetics
Integrative aspects of cell biology
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004224028979
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