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CiliOPD: a ciliopathy-associated COPD endotype

Abstract : The pathophysiology of chronic obstructive pulmonary disease (COPD) relies on airway remodelling and inflammation. Alterations of mucociliary clearance are a major hallmark of COPD caused by structural and functional cilia abnormalities. Using transcriptomic databases of whole lung tissues and isolated small airway epithelial cells (SAEC), we comparatively analysed cilia-associated and ciliopathy-associated gene signatures from a set of 495 genes in 7 datasets including 538 non-COPD and 508 COPD patients. This bio-informatics approach unveils yet undescribed cilia and ciliopathy genes associated with COPD including NEK6 and PROM2 that may contribute to the pathology, and suggests a COPD endotype exhibiting ciliopathy features (CiliOPD).
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https://hal.univ-reims.fr/hal-03170356
Contributor : Valerian Dormoy <>
Submitted on : Tuesday, March 16, 2021 - 10:35:52 AM
Last modification on : Tuesday, March 23, 2021 - 9:38:00 AM

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Jeanne-Marie Perotin, Myriam Polette, Gaëtan Deslée, Valérian Dormoy. CiliOPD: a ciliopathy-associated COPD endotype. Respiratory Research, BioMed Central, 2021, 22 (1), ⟨10.1186/s12931-021-01665-4⟩. ⟨hal-03170356⟩

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