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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Kartagener syndrome with pulmonary mycetoma and recurrent thromboembolism: A case report
09 October 2026RATIONALE: Kartagener syndrome, a variant of primary ciliary dyskinesia, is defined by chronic sinusitis, bronchiectasis, and situs inversus. While recurrent infections are seen, a combination of thromboembolic disease, pulmonary mycetoma, cardiac dysfunction, and serological evidence of autoimmune disorders is very uncommon.
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Biallelic variants in CFAP20DC cause primary ciliary dyskinesia due to abnormal ciliary clearance
09 October 2026No abstract
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Method for modeling oviduct function and impact on embryonic development†
09 October 2026Direct experimental analysis of the mammalian oviduct is constrained by limited tissue access and the short lifespan of ex vivo preparations. Extracellular matrix-embedded three-dimensional epithelial organoids provide longer-term in vitro models. However, their inward-facing apical surface and the absence of supporting stromal cells limit physiological studies of the oviduct, including ciliary activity and maternal-embryonic interactions. Here, we provide a step-wise protocol detailing the...
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Mechanical‑immune feedback regulation in distraction osteogenesis: From mechanotransduction to immune microenvironment remodeling (Review)
09 October 2026Distraction osteogenesis (DO) is a well‑established regenerative technique in which controlled tensile forces stimulate de novo bone formation between gradually separated bone segments. Although traditionally interpreted as a mechanically driven process, accumulating evidence indicates that successful DO depends on the coordinated regulation of mechanotransduction, immune microenvironment remodeling, angiogenesis, osteogenesis and subsequent bone remodeling. The present review summarizes current...
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PKD2 structural destabilization drives primary cilia degeneration and ADPKD pathogenicity
09 October 2026Human variants in renal polycystins (PKD1, PKD2) are responsible for most forms of autosomal dominant polycystic kidney disease (ADPKD), a common genetic disorder without curative drug treatment. Renal polycystins form ion channels in primary cilia, but our understanding of their molecular dysregulation caused by disease-associated variants is limited. Using cryo-electron microscopy (cryo-EM), primary cilia electrophysiology and super-resolution analysis, we investigated the mechanistic impact...