ArticleHuman genetics2011
Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- Article
- Identification and bioinformatics analysis of cilia-associated gene families inFrontiers in microbiology · 2025Article
- CilioGenics: an integrated method and database for predicting novel ciliary genes.Nucleic acids research · 2024Article
- First contact: the role of respiratory cilia in host-pathogen interactions in the airways.American journal of physiology. Lung cellular and molecular physiology · 2020Review
- A novelJournal of genetics · 2020Article
- C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.American journal of human genetics · 2018Article
- Quantitative Proteomic Analysis of Human Airway Cilia Identifies Previously Uncharacterized Proteins of High Abundance.Journal of proteome research · 2017Article
- Rfx2 Stabilizes Foxj1 Binding at Chromatin Loops to Enable Multiciliated Cell Gene Expression.PLoS genetics · 2017Article
- GEMC1 is a critical regulator of multiciliated cell differentiation.The EMBO journal · 2016Article
- Human basal body basics.Cilia · 2016Review
- DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.Scientific reports · 2015Article
- Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.PloS one · 2014Article
- Article
- Cigarette smoking induces small airway epithelial epigenetic changes with corresponding modulation of gene expression.Human molecular genetics · 2013Article
- Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.American journal of human genetics · 2013Article
- In utero exposure to arsenic alters lung development and genes related to immune and mucociliary function in mice.Environmental health perspectives · 2013Article
- Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Nature genetics · 2012Article
- Review
- Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism.Asian journal of andrologyReview
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cilia are small cellular projections that either act as sensors (primary cilia) or propel fluid over the epithelia of various organs (motile cilia). The organellum has gained much attention lately because of its involvement in a group of human diseases called ciliopathies. Primary ciliary dyskinesia (PCD) is an autosomal recessive ciliopathy caused by mutations in cilia motility genes. The disease is characterized by recurrent respiratory tract infections due to the lack of an efficient mucociliary clearance. We performed whole-genome gene expression profiling in bronchial biopsies from PCD patients. We used the quality threshold clustering algorithm to identify groups of genes that revealed highly correlated RNA expression patterns in the biopsies. The largest cluster contained 372 genes and was significantly enriched for genes related to cilia. The database and literature search showed that 164 genes in this cluster were known cilia genes, strongly indicating that the remaining 208 genes were likely to be new cilia genes. The tissue expression pattern of the 208 new cilia genes and the 164 known genes was consistent with the presence of motile cilia in a given tissue. The analysis of the upstream promotor sequences revealed evidence for RFX transcription factors binding site motif in both subgroups. Based on the correlated expression patterns in PCD-affected tissues, we identified 208 genes that we predict to be involved in cilia biology. Our predictions are based directly on the human material and not on model organisms. This list of genes provides candidate genes for PCD and other ciliopathies.
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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.