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Transcriptional analysis of primary ciliary dyskinesia airway cells reveals a dedicated cilia glutathione pathway

23 Jul 2024

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetic condition that results in dysmotile cilia. The repercussions of cilia dysmotility and gene variants on the multiciliated cell remain poorly understood. We used single-cell RNA-Seq, proteomics, and advanced microscopy to compare primary culture epithelial cells from patients with PCD, their heterozygous mothers, and healthy individuals, and we induced pluripotent stem...

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PMID: 39042459
DOI: 10.1172/jci.insight.180198

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