ArticleThe European respiratory journal2024
A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.
Article in The European respiratory journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The trial behind it
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Who cites it
10 citing papers in PubMed.
- mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivo.American journal of respiratory cell and molecular biology · 2026Article
- Preclinical human models of primary ciliary dyskinesia.European respiratory review : an official journal of the European Respiratory Society · 2026Review
- Utilising human cellular models of primary ciliary dyskinesia: a scoping review.European respiratory review : an official journal of the European Respiratory Society · 2026Article
- Defining Functional Correction Thresholds in Primary Ciliary Dyskinesia for Effective Gene Therapies.bioRxiv : the preprint server for biology · 2026Article
- Pulmonary exacerbations in patients with genetically confirmed PCD: a prospective observational multicentre study.Frontiers in molecular biosciences · 2026Article
- Machine Learning Analysis of Cilia-Driven Particle Transport Distinguishes Primary Ciliary Dyskinesia Cilia from Normal Cilia.bioRxiv : the preprint server for biology · 2025Article
- Primary ciliary dyskinesia phenotypes and correlation with genotype.Current opinion in pulmonary medicine · 2025Review
- Lipid nanoparticle-encapsulated Dnai1 mRNA rescues ciliary activity in primary ciliary dyskinesia mouse cell models.Journal of cell science · 2025Article
- International consensus statement on routine blood testing in primary ciliary dyskinesia.ERJ open research · 2025Article
- An integrated machine learning model of transcriptomic genes in multi-center chronic obstructive pulmonary disease reveals the causal role of TIMP4 in airway epithelial cell.Respiratory research · 2025Article
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Authors and funding
21 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary ciliary dyskinesia is a genetic disorder caused by aberrant motile cilia function that results in defective ciliary airway clearance and subsequently leads to recurrent airway infections and bronchiectasis. We aimed to determine: how many functional multiciliated airway cells are sufficient to maintain ciliary airway clearance?
methodsTo answer this question we exploited the molecular defects of the X-linked recessive primary ciliary dyskinesia variant caused by pathogenic variants in
resultsPrimary ciliary dyskinesia male individuals with hemizygous pathogenic
conclusionsOur findings indicate that having 30-62% of multiciliated respiratory cells functioning can generate either normal or slightly reduced ciliary clearance. Because heterozygous female carriers displayed either no or subtle respiratory symptoms, complete correction of 30% of cells by precision medicine could improve ciliary airway clearance in individuals with primary ciliary dyskinesia, as well as clinical symptoms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.