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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
  • Proliferation associated 2G4 is required for the ciliation of vertebrate motile cilia
    04 November 2024
    Motile cilia are critical structures that regulate early embryonic development and tissue homeostasis through synchronized ciliary motility. The formation of motile cilia is dependent on precisely controlled sequential processes including the generation, migration, and docking of centrioles/basal bodies as well as ciliary growth. Using the published proteomics data from various organisms, we identified proliferation-associated 2G4 as a novel regulator of ciliogenesis. Loss-of-function studies...
  • Ciliopathy Organoid Models - a Comprehensive Review
    04 November 2024
    Cilia are membrane-bound organelles found on the surface of most mammalian cell types and play numerous roles in human physiology and development, including osmo- and mechanosensation, as well as signal transduction. Ciliopathies are a large group of - usually rare - genetic disorders resulting from abnormal ciliary structure or ciliary dysfunction that have a high collective prevalence. Autosomal dominant or recessive polycystic kidney disease (ADPKD/ARPKD), Bardet-Biedl-Syndrome and primary...
  • A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report
    04 November 2024
    Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal co-dominant disease caused by mutations in the SERPINA1 gene. The alleles most frequently associated with AATD are protease inhibitors S and Z. Here, we report on a 35-year-old woman diagnosed with Kartagener's syndrome and subsequently referred for bronchiectasis testing. She was identified with a hitherto unreported AATD mutation: a heterozygous variant rs1460874866 in a previously undefined exon 4 (NM_001127701.1) of the SERPINA1 gene....
  • An evolutionary perspective on Arf family GTPases
    04 November 2024
    The Arf family GTPases are regulators of eukaryotic cellular organization, functioning in the secretory and endocytic pathways, in cilia and flagella, in cytoskeleton dynamics, and in lipid metabolism. We describe the evolution of this protein family and its well-studied regulators. The last eukaryotic common ancestor had fifteen members, and the current complement of Arf GTPases has been sculpted by gene loss and gene duplications since that point. Some Arf family GTPases (such as those that...
  • Live imaging of airway epithelium reveals that mucociliary clearance modulates SARS-CoV-2 spread
    03 November 2024
    SARS-CoV-2 initiates infection in the conducting airways, where mucociliary clearance inhibits pathogen penetration. However, it is unclear how mucociliary clearance impacts SARS-CoV-2 spread after infection is established. To investigate viral spread at this site, we perform live imaging of SARS-CoV-2 infected differentiated primary human bronchial epithelium cultures for up to 12 days. Using a fluorescent reporter virus and markers for cilia and mucus, we longitudinally monitor mucus motion,...