ArticleNature genetics2013
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers, 3 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
122 citing papers in PubMed, 3 syntheses or guidelines pooled it, 221 citations in OpenAlex.
- Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.American journal of respiratory and critical care medicine · 2018Pooled it
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatric pulmonology · 2016Guideline
- Biallelic nonsense variants in GAS8 associated with asthenoteratozoospermia and PCD-like symptoms.Journal of human genetics · 2026Article
- Article
- Transcriptomic Analysis of Fermented Chinese Chive Selectively Attenuating Deoxynivalenol-Induced Ovarian Toxicity in Mice.Antioxidants (Basel, Switzerland) · 2026Article
- Absence of conserved immune signalling pathways and increased pathogen susceptibility associated to photosymbiosis in acoels.BMC biology · 2026Article
- A homozygous splice-site variant inFrontiers in medicine · 2026Article
- Harnessing cutting-edge techniques to identify novel gene expression signatures in acute myeloid leukemia patients.Frontiers in bioinformatics · 2026Article
- Immunostaining and Ciliary Movement Analysis in Primary Ciliary Dyskinesia With a Homozygous Deletion Involving Exons 1-4 ofRespirology case reports · 2025Article
- Foxn3 is required to suppress aberrant ciliogenesis in nonphotoreceptor retinal neurons.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.Frontiers in molecular biosciences · 2025Article
- Assembly of FAP93 at the proximal axoneme in Chlamydomonas cilia.Cytoskeleton (Hoboken, N.J.) · 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
- Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii.PLoS genetics · 2024Article
- Integrative analysis of spatial and single-cell transcriptome data from human pancreatic cancer reveals an intermediate cancer cell population associated with poor prognosis.Genome medicine · 2024Article
- Effects ofHuman reproduction open · 2024Article
- Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.Frontiers of medicine · 2023Article
- Integrated modeling of the Nexin-dynein regulatory complex reveals its regulatory mechanism.Nature communications · 2023Article
- Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.Journal of human genetics · 2023Article
62 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 8 institutions in 4 countries.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and sperm flagella and random determination of visceral asymmetry. Here, we identify the DRC1 subunit of the nexin-dynein regulatory complex (N-DRC), an axonemal structure critical for the regulation of dynein motors, and show that mutations in the gene encoding DRC1, CCDC164, are involved in PCD pathogenesis. Loss-of-function mutations disrupting DRC1 result in severe defects in assembly of the N-DRC structure and defective ciliary movement in Chlamydomonas reinhardtii and humans. Our results highlight a role for N-DRC integrity in regulating ciliary beating and provide the first direct evidence that mutations in DRC genes cause human disease.
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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.