Article
DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.
Orphanet journal of rare diseases - 2 Sept 2025
Zheng Rui, Yang Wenhao, Yan Jierui, Guo Zhuoyao, Chen Weicheng, Chen Lina, Xu Wenming
Abstract excerpt
Primary ciliary dyskinesia (PCD; MIM 244400) is a genetic disorder, and its morbidity has been previously underestimated. Mutations in ciliary proteins underlie the disease, resulting in ciliary dysfunction. DNAH10 is an inner arm dynein heavy chain that has been shown to play a critical role in the movement of sperm flagella. In the present study, we demonstrated the presence of loss-of-function mutations in the...
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