ReviewCellular and molecular life sciences : CMLS2020
Sperm defects in primary ciliary dyskinesia and related causes of male infertility.
Review in Cellular and molecular life sciences : CMLS, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 131 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
131 citing papers in PubMed, 3 syntheses or guidelines pooled it, 277 citations in OpenAlex.
- European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2025Guideline
- Sperm Ion Transporters and Channels in Human Asthenozoospermia: Genetic Etiology, Lessons from Animal Models, and Clinical Perspectives.International journal of molecular sciences · 2022Pooled it
- 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
- Article
- Novel homozygous or compound heterozygous DNAH17 variants lead to male infertility characterized by multiple morphological abnormalities of the sperm flagella and asthenoteratozoospermia in humans.Asian journal of andrology · 2026Article
- A narrative review on the role of autophagy in male infertility-associated sperm abnormalities.Asian journal of andrology · 2026Review
- RGS22 is a metazoa-specific radial spoke component required for coordinated ciliary beating.Nature communications · 2026Article
- Article
- A Compound Heterozygous Missense Variant in TheInternational journal of fertility & sterility · 2026Article
- Genetic aetiologies of bronchiectasis revisited: A new diagnosis of primary ciliary dyskinesia in adulthood.Clinical medicine (London, England) · 2026Article
- Doublet microtubule-associated tektins and enzymes differentially regulate sperm flagellar integrity and motility.Nature communications · 2026Article
- A novel homozygous frameshift mutation in theFrontiers in medicine · 2026Article
- BiallelicFrontiers in genetics · 2026Article
- A novel frameshift variant inFrontiers in cell and developmental biology · 2026Article
- ANKEF1 is a key axonemal component essential for murine sperm motility and male fertility.eLife · 2025Article
- Biallelic variants in DNAH11 cause male infertility with asthenozoospermia in a Chinese non-consanguineous family: A case report.Medicine · 2025Article
- Genetic and Epigenetic Risks of Male Infertility in ART.International journal of molecular sciences · 2025Review
- Male infertility.Systems biology in reproductive medicine · 2025Review
- Acquisition of ampliconic sequences marks a selfish mouse t-haplotype.Nature communications · 2025Article
- Non-human primates as a translational model for the study of male reproductive health.Nature reviews. Urology · 2025Review
71 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
5 authors at 4 institutions in 2 countries.
Funding
Abstract
The core axoneme structure of both the motile cilium and sperm tail has the same ultrastructural 9 + 2 microtubular arrangement. Thus, it can be expected that genetic defects in motile cilia also have an effect on sperm tail formation. However, recent studies in human patients, animal models and model organisms have indicated that there are differences in components of specific structures within the cilia and sperm tail axonemes. Primary ciliary dyskinesia (PCD) is a genetic disease with symptoms caused by malfunction of motile cilia such as chronic nasal discharge, ear, nose and chest infections and pulmonary disease (bronchiectasis). Half of the patients also have situs inversus and in many cases male infertility has been reported. PCD genes have a role in motile cilia biogenesis, structure and function. To date mutations in over 40 genes have been identified cause PCD, but the exact effect of these mutations on spermatogenesis is poorly understood. Furthermore, mutations in several additional axonemal genes have recently been identified to cause a sperm-specific phenotype, termed multiple morphological abnormalities of the sperm flagella (MMAF). In this review, we discuss the association of PCD genes and other axonemal genes with male infertility, drawing particular attention to possible differences between their functions in motile cilia and sperm tails.
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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.