ArticleCell death & disease2022
Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening.
Article in Cell death & disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 22 citations in OpenAlex.
- Nasal nitric oxide combined with clinical features for preliminary screening of primary ciliary dyskinesia in bronchiectasis.The European respiratory journal · 2026Article
- Airway Clearance and Pediatric Pulmonary Rehabilitation in Primary Ciliary Dyskinesia: A Clinical Framework for Children and Adolescents.Journal of clinical medicine · 2026Review
- 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
- Article
- Single-cell analysis of adult mouse testes exposed to cigarette smoke.Journal of assisted reproduction and genetics · 2026Article
- DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.Orphanet journal of rare diseases · 2025Article
- Ciliary IFT-B Transportation Plays an Important Role in Human Endometrial Receptivity Establishment and is Disrupted in Recurrent Implantation Failure Patients.Cell proliferation · 2025Article
- Structural and Functional Differences in Preterm Tracheal Epithelium Based on Mouse Airway Organoid Models.Stem cell reviews and reports · 2025Article
- Advances and applications of gut organoids: modeling intestinal diseases and therapeutic development.Life medicine · 2025Review
- DNAH9 variants in children with post-infectious bronchiolitis/bronchitis obliterans.Orphanet journal of rare diseases · 2025Article
- Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia.Journal of human genetics · 2025Article
- Further evidence fromiScience · 2024Article
- Airway ciliated cells in adult lung homeostasis and COPD.European respiratory review : an official journal of the European Respiratory Society · 2023Review
- ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.Frontiers in genetics · 2023Article
- Multiomics Analysis of aCells · 2022Article
- Article
- Organoid technology and applications in lung diseases: Models, mechanism research and therapy opportunities.Frontiers in bioengineering and biotechnology · 2022Review
Corrections and comments
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Authors and funding
13 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary cilia dyskinesia (PCD) is a rare genetic disease caused by ciliary structural or functional defects. It causes severe outcomes in patients, including recurrent upper and lower airway infections, progressive lung failure, and randomization of heterotaxy. To date, although 50 genes have been shown to be responsible for PCD, the etiology remains elusive. Meanwhile, owing to the lack of a model mimicking the pathogenesis that can be used as a drug screening platform, thereby slowing the development of related therapies. In the current study, we identified compound mutation of DNAH9 in a patient with PCD with the following clinical features: recurrent respiratory tract infections, low lung function, and ultrastructural defects of the outer dynein arms (ODAs). Bioinformatic analysis, structure simulation assay, and western blot analysis showed that the mutations affected the structure and expression of DNAH9 protein. Dnah9 knock-down (KD) mice recapitulated the patient phenotypes, including low lung function, mucin accumulation, and increased immune cell infiltration. Immunostaining, western blot, and co-immunoprecipitation analyses were performed to clarify that DNAH9 interacted with CCDC114/GAS8 and diminished their protein levels. Furthermore, we constructed an airway organoid of Dnah9 KD mice and discovered that it could mimic the key features of the PCD phenotypes. We then used organoid as a drug screening model to identify mitochondrial-targeting drugs that can partially elevate cilia beating in Dnah9 KD organoid. Collectively, our results demonstrated that Dnah9 KD mice and an organoid model can recapture the clinical features of patients with PCD and provide an excellent drug screening platform for human ciliopathies.
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