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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
  • Recording Cilia Activity in Ctenophores
    26 April 2024
    Pelagic ctenophores swim in the water with the help of eight rows of long fused cilia. Their entire behavioral repertoire is dependent to a large degree on coordinated cilia activity. Therefore, recording cilia beating is paramount to understanding and registering the behavioral responses and investigating its neural and hormonal control. Here, we present a simple protocol to monitor and quantify cilia activity in semi-intact ctenophore preparations (using Pleurobrachia and Bolinopsis as...
  • Scanning Electron Microscopy of Ctenophores: Illustrative Atlas
    26 April 2024
    Scanning electron microscopy (SEM) is a powerful tool for ultrastructural analyses of biological specimens at their surface. With comb jellies being very soft and full of water, many methodological difficulties limit their microanatomical studies via SEM. Here, we describe SEM protocols and approaches successfully tested on ctenophores Pleurobrachia bachei and Beroe abyssicola. Our SEM investigation revealed the astonishing diversity of ciliated structures in all major functional systems,...
  • Mechanistic complement of autosomal dominant polycystic kidney disease: the role of aquaporins
    26 April 2024
    Autosomal dominant polycystic kidney disease is a genetic kidney disease caused by mutations in the genes PKD1 or PKD2. Its course is characterized by the formation of progressively enlarged cysts in the renal tubules bilaterally. The basic genetic explanation for autosomal dominant polycystic kidney disease is the double-hit theory, and many of its mechanistic issues can be explained by the cilia doctrine. However, the precise molecular mechanisms underpinning this condition's occurrence are...
  • Metachronal Motion of Biological and Artificial Cilia
    26 April 2024
    Cilia are slender, hair-like cell protrusions that are present ubiquitously in the natural world. They perform essential functions, such as generating fluid flow, propulsion, and feeding, in organisms ranging from protozoa to the human body. The coordinated beating of cilia, which results in wavelike motions known as metachrony, has fascinated researchers for decades for its role in functions such as flow generation and mucus transport. Inspired by nature, researchers have explored diverse...
  • Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients
    26 April 2024
    The heterodimeric kinesin-2 motor (KIF3A/KIF3B with accessory protein KAP3) drives intraflagellar transport, essential for ciliogenesis and ciliary function. Three point mutations in the KIF3B subunit have recently been linked to disease in humans (E250Q and L523P) and Bengal cats (A334T) (Cogné et al., Am. J. Hum. Genet., 2020, 106, 893-904). Patients display retinal atrophy and, in some cases, other ciliopathy phenotypes. However, the molecular mechanism leading to disease is currently...