ReviewExpert review of respiratory medicine2016
Primary ciliary dyskinesia and associated sensory ciliopathies.
Review in Expert review of respiratory medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed.
- Emerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Biallelic Variants inCells · 2024Article
- Article
- The morphological and functional diversity of apical microvilli.Journal of anatomy · 2023Review
- Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- PCD Genes-From Patients to Model Organisms and Back to Humans.International journal of molecular sciences · 2022Review
- Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.Journal of cellular and molecular medicine · 2021Article
- Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.Human mutation · 2020Article
- Recognizing genetic disease: A key aspect of pediatric pulmonary care.Pediatric pulmonology · 2020Review
- Developmental and behavioral problems in preschool-aged primary ciliary dyskinesia patients.European journal of pediatrics · 2019Observational
- Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia.Translational science of rare diseases · 2019Article
- Advances in bronchiectasis: endotyping, genetics, microbiome, and disease heterogeneity.Lancet (London, England) · 2018Review
- TRRAP is a central regulator of human multiciliated cell formation.The Journal of cell biology · 2018Article
- Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report.Breathe (Sheffield, England) · 2017Article
- Assessing the Collective Dynamics of Motile Cilia in Cultures of Human Airway Cells by Multiscale DDM.Biophysical journal · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is a genetic disease of motile cilia, which belongs to a group of disorders resulting from dysfunction of cilia, collectively known as ciliopathies. Insights into the genetics and phenotypes of PCD have grown over the last decade, in part propagated by the discovery of a number of novel cilia-related genes. These genes encode proteins that segregate into structural axonemal, regulatory, as well as cytoplasmic assembly proteins. Our understanding of primary (sensory) cilia has also expanded, and an ever-growing list of diverse conditions has been linked to defective function and signaling of the sensory cilium. Recent multicenter clinical and genetic studies have uncovered the heterogeneity of motile and sensory ciliopathies, and in some cases, the overlap between these conditions. Here, we will describe the genetics and pathophysiology of ciliopathies in children, focusing on PCD, review emerging genotype-phenotype relationships, and diagnostic tools available for the clinician.
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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.