ArticleJCI insight2023
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Article in JCI insight, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 17 citations in OpenAlex.
- Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.Journal of assisted reproduction and genetics · 2026Article
- Preclinical human models of primary ciliary dyskinesia.European respiratory review : an official journal of the European Respiratory Society · 2026Review
- The Causal Association between Plasma Metabolites-Mediated Immune Cells and Myocardial Infarction: A Mendelian Randomization Study.Arquivos brasileiros de cardiologia · 2026Article
- A Case of Primary Ciliary Dyskinesia Caused byCase reports in medicine · 2026Article
- Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH.Frontiers in cell and developmental biology · 2026Article
- Fetal mri of obstructive hydrocephalus: a review proposing a surgical etiology-based approach.Neuroradiology · 2026Review
- A homozygous splice-site variant inFrontiers in medicine · 2026Article
- Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec.Cells · 2025Article
- Loss of Eml1 alters microtubule-associated protein networks in mouse brain heterotopia.Communications biology · 2025Article
- Article
- Role of intraflagellar transport protein IFT140 in the formation and function of motile cilia in mammals.Cellular and molecular life sciences : CMLS · 2025Article
- The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia.Pediatric pulmonology · 2025Article
- Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.Science translational medicine · 2025Article
- Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects.Scientific reports · 2024Article
- A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.Journal of cellular and molecular medicine · 2024Article
- Transcriptional analysis of primary ciliary dyskinesia airway cells reveals a dedicated cilia glutathione pathway.JCI insight · 2024Article
- Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
- Update ofThe effect of2023
Authors and funding
19 authors at 4 institutions in 2 countries.
Funding
Abstract
DNAAF5 is a dynein motor assembly factor associated with the autosomal heterogenic recessive condition of motile cilia, primary ciliary dyskinesia (PCD). The effects of allele heterozygosity on motile cilia function are unknown. We used CRISPR-Cas9 genome editing in mice to recreate a human missense variant identified in patients with mild PCD and a second, frameshift-null deletion in Dnaaf5. Litters with Dnaaf5 heteroallelic variants showed distinct missense and null gene dosage effects. Homozygosity for the null Dnaaf5 alleles was embryonic lethal. Compound heterozygous animals with the missense and null alleles showed severe disease manifesting as hydrocephalus and early lethality. However, animals homozygous for the missense mutation had improved survival, with partially preserved cilia function and motor assembly observed by ultrastructure analysis. Notably, the same variant alleles exhibited divergent cilia function across different multiciliated tissues. Proteomic analysis of isolated airway cilia from mutant mice revealed reduction in some axonemal regulatory and structural proteins not previously reported in DNAAF5 variants. Transcriptional analysis of mouse and human mutant cells showed increased expression of genes coding for axonemal proteins. These findings suggest allele-specific and tissue-specific molecular requirements for cilia motor assembly that may affect disease phenotypes and clinical trajectory in motile ciliopathies.
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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.