PubMed Latest
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
Some of the papers are free to read; others require subscriptions.
PubMed RSS feed: Latest results from PubMed
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Clinical and molecular insights into primary ciliary dyskinesia: Genotype-phenotype correlation and protein interaction networks in an Indian retrospective cohort
08 October 2026CONCLUSIONS: This study enhances understanding of PCD variants in the Indian population and highlights the value of combining clinical evaluations with genomic and structural analyses. PPI and GO analyses reveal disrupted ciliary pathways linked to PCD.
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Modeling Respiratory Infections Using Patient-Derived Apical-Out Airway Organoids
08 October 2026Airway organoids bridge the gap between conventional epithelial cultures and animal models by combining human tissue architecture, cellular diversity, and experimental accessibility. However, because these systems are dynamic, reproducible infection modeling requires careful definition of parameters influencing infection readouts, including epithelial polarity, maturation, cellular composition, and access to a physiologically relevant apical surface. We established patient-derived apical-out...
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TTC21B: From Modifier to Causative Gene in Joubert Syndrome
08 October 2026Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a neurodevelopmental ciliopathy characterized by a peculiar cerebellar and brainstem malformation. It was then suggested that TTC21B could act as a modifier...
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Primary cilia as a molecular convergence hub linking neurodevelopment and autism spectrum disorder
08 October 2026The primary cilium, a highly conserved microtubule-based organelle, orchestrates a broad repertoire of signal transduction cascades required for embryonic development, tissue homeostasis and cellular communication. Disruption of ciliary structure or function results in a heterogeneous group of multisystem disorders known as ciliopathies. Emerging genomic and transcriptomic evidence indicates that perturbation of ciliary architecture or signaling may also contribute to neurodevelopmental...
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A novel homozygous frameshift mutation in the <em>CCDC151</em> causing primary ciliary dyskinesia with azoospermia in a Chinese family
08 October 2026CONCLUSION: We identified a novel homozygous frameshift CCDC151 variant in a patient with PCD and azoospermia, expanding the mutational and phenotypic spectra of CCDC151-related PCD and supporting an association between CCDC151 dysfunction and azoospermia.