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Article

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.

Science translational medicine - 18 Mar 2020

Liu Zhen, Nguyen Quynh P H, Guan Qingxu, Albulescu Alexandra, Erdman Lauren, Mahdaviyeh Yasaman, Kang Jasmine, Ouyang Hong, Hegele Richard G, Moraes Theo, Goldenberg Anna, Dell Sharon D, Mennella Vito

Abstract excerpt

Airway clearance of pathogens and particulates relies on motile cilia. Impaired cilia motility can lead to reduction in lung function, lung transplant, or death in some cases. More than 50 proteins regulating cilia motility are linked to primary ciliary dyskinesia (PCD), a heterogeneous, mainly recessive genetic lung disease. Accurate PCD molecular diagnosis is essential for identifying therapeutic targets and...

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PMID: 32188719
DOI: 10.1126/scitranslmed.aay0071

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