ReviewGenetics in medicine : official journal of the American College of Medical Genetics2009
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 220 papers, 7 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests
Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age
Novel Use of Combined High-Speed Video Microscopy and Nasal Nitric Oxide Screening for Identification of Primary Ciliary Dyskinesia in Adult Bronchiectasis
Who cites it
220 citing papers in PubMed, 7 syntheses or guidelines pooled it, 477 citations in OpenAlex.
- A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.Human reproduction update · 2021Pooled it
- Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.BMC pulmonary medicine · 2019Pooled it
- Locus and gene-based GWAS meta-analysis identifies new diabetic nephropathy genes.Immunogenetics · 2018Pooled it
- Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants.Journal of human genetics · 2016Pooled it
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatric pulmonology · 2016Guideline
- Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis.BMC pulmonary medicine · 2015Pooled it
- Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome.BMJ case reports · 2015Pooled it
- Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients.British journal of cancer · 2022Trial
- The genetics of situs inversus without primary ciliary dyskinesia.Scientific reports · 2020Trial
- DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease.Respiratory research · 2014Trial
- A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms.Ultrastructural pathology · 2014Trial
- Discovery of novel alleles in Kartagener's syndrome.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Atypical Kartagener syndrome in a 40-year-old woman: Computed Tomography findings of situs inversus with bronchiectasis and infertility.Radiology case reports · 2026Article
- Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome study.BMJ open respiratory research · 2026Article
- Article
- A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing.Molecular genetics & genomic medicine · 2026Article
- Role of SPAG6 in regulating physiological functions and tumorigenesis (Review).International journal of oncology · 2026Review
- Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.Brain structure & function · 2026Article
- PCDSOS: a novel clinical predictive tool for screening primary ciliary dyskinesia in adult bronchiectasis patients-a multicenter derivation and external validation study.BMC medicine · 2026Article
- Article
160 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
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.
Indexed as
Identifiers
What OpenQuestion holds
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.