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.
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PubMed RSS feed: Latest results from PubMed
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Ameliorative Effect of an Anti-microRNA-21 Oligonucleotide on Animal and Human Models of Cystic Kidney Disease
03 April 2025CONCLUSIONS: Our results showed that Anti-miR-21-SNA treatment represents a potential therapeutic strategy for cystic kidney disease.
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Bio-Inspired Self-Activating Polydimethylsiloxane-Modified CrOx/Al2O3 Catalyst for Acetylene Semi-Hydrogenation
03 April 2025Biomimetic approach is a nature-driven strategy for designing functional materials to meet the industrial challenges. Here we demonstrate the bio-inspired discovery of a self-activating catalyst, with polydimethylsiloxane anchored over the surface of CrOx/Al2O3, exhibiting comparable performance with noble metallic catalysts for acetylene semi-hydrogenation. In addition, the dynamic movement of polymer chains with high flexibility renders the catalyst to impose proactive perturbation to the...
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A new species of an unusual polychaete genus Ctenophoricola (Phyllodocida, Phyllodocidae, Alciopini) from the Indian Ocean
02 April 2025A new species belonging to an unusual polychaete genus Ctenophoricola is described as Ctenophoricola tzetlini sp. nov.. The new species differs from the two valid species of the genus in body proportions and in having: external eyes with well-developed cornea resembling those in free-living Alciopini, acicular chaetae in the anterior body region, a large pygidium with long anal cirri, and distinct bundles of cilia scattered over the posterior body region. The new species' similarity to an...
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Beyond the present: current and future perspectives on the role of infections in pediatric PCD
02 April 2025INTRODUCTION: Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting motile cilia, leading to impaired mucociliary clearance and increased susceptibility to respiratory infections. These infections contribute to long-term complications such as bronchiectasis and lung function decline.
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Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene
02 April 2025'En bloc' inheritance of point mutations in adjacent genes has rarely been described. We have previously reported a family with severe, mostly early-lethal, Joubert syndrome (JBTS) with early-onset severe retinal dystrophy (EOSRD) and polycystic kidney disease (PKD), which had then been attributed to a homozygous pathogenic missense variant, p.(Arg106Pro), in the ciliary POC1B gene. Because this and other POC1B variants were in subsequent studies only reported in patients with non-syndromic...