Evidence map›Paper›PMID 32943623›Full record

ReviewNature reviews. Disease primers2020

Motile ciliopathies.

Julia Wallmeier, Kim G Nielsen, Claudia E Kuehni, Jane S Lucas, Margaret W Leigh, Maimoona A Zariwala, Heymut Omran

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Disease primers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 244 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
244citing papers in PubMed, 1 pooled it
34.7field-weighted citation impact, top 1% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

244 citing papers in PubMed, 1 synthesis or guideline pooled it, 378 citations in OpenAlex.

  1. Multiple breath washout in primary ciliary dyskinesia: a systematic review of the literature.European respiratory review : an official journal of the European Respiratory Society · 2025
    Pooled it
  2. Trial
  3. Article
  4. The KIF6-RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Article
  5. mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivo.American journal of respiratory cell and molecular biology · 2026
    Article
  6. Article
  7. Article
  8. AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways.American journal of respiratory and critical care medicine · 2026
    Article
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  11. Review
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184 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 6 institutions in 5 countries.

Julia WallmeierDepartment of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Kim G NielsenDanish PCD Centre, Danish Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Claudia E KuehniInstitute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Jane S LucasPrimary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Margaret W LeighDepartment of Pediatrics, Marsico Lung Institute, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Maimoona A ZariwalaDepartment of Pathology and Laboratory Medicine, Marsico Lung Institute, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Heymut OmranDepartment of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany. Heymut.Omran@ukmuenster.de.
University Hospital Münster · DELung Institute · USRigshospitalet · DKUniversity Hospital of Bern · CHUniversity of North Carolina at Chapel Hill · USUniversity of Southampton · GB

Funding

The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso, Michael Wagner · 2019 to 2026
$51.2M
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary DyskinesiaU54HL096458 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI OLIVIER, KENNETH N. · 2009 to 2023
$20.0M
Pathogenesis of PCD Lung DiseaseR01HL071798 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KNOWLES, MICHAEL R · 2004 to 2021
$7.2M
Department of HealthNCATS NIH HHS U2C TR002818NHLBI NIH HHS R01 HL071798NHLBI NIH HHS U54 HL096458
6 · The paper itself

Abstract

Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of the disease depend on the specific affected genes and the tissues in which they are expressed. Defects in the ependymal cilia can result in hydrocephalus, defects in the cilia in the fallopian tubes or in sperm flagella can cause female and male subfertility, respectively, and malfunctional motile monocilia of the left-right organizer during early embryonic development can lead to laterality defects such as situs inversus and heterotaxy. If mucociliary clearance in the respiratory epithelium is severely impaired, the disorder is referred to as primary ciliary dyskinesia, the most common motile ciliopathy. No single test can confirm a diagnosis of motile ciliopathy, which is based on a combination of tests including nasal nitric oxide measurement, transmission electron microscopy, immunofluorescence and genetic analyses, and high-speed video microscopy. With the exception of azithromycin, there is no evidence-based treatment for primary ciliary dyskinesia; therapies aim at relieving symptoms and reducing the effects of reduced ciliary motility.

Indexed as

CiliopathiesGenetic Association StudiesHumansRisk Factors

Identifiers

PMID32943623
OpenAlexW4211135382

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.