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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
  • Flow Physics Guides Morphology of Ciliated Organs
    25 March 2025
    Organs that pump luminal fluids by the coordinated beat of motile cilia are integral to animal physiology. Such organs include the human airways, brain ventricles and reproductive tracts. Although cilia organization and duct morphology vary drastically in the animal kingdom, ducts are typically classified as carpet or flame designs. The reason behind the appearance of these two different designs and how they relate to fluid pumping remain unclear. Here, we demonstrate that two structural...
  • Whole exome sequencing enhances diagnosis of hereditary bronchiectasis
    25 March 2025
    CONCLUSIONS: We have described the supporting clinical features of patients with hereditary bronchiectasis. Clinicians should recommend WES for patients exhibiting these characteristics, in combination with accessible non-genetic testing methods, to maximize diagnostic accuracy. For patients with negative initial genetic test results, re-analysis of WES data may facilitate obtaining a new diagnosis.
  • Peptidylglycine alpha-amidating monooxygenase is important in mice for beta-cell cilia formation and insulin secretion but promotes diabetes risk through beta-cell independent mechanisms
    22 March 2025
    CONCLUSIONS: Eliminating Pam expression only in beta cells leads to morphological changes in insulin granules, reduced insulin secretion, reduced hIAPP amyloid burden and altered ciliogenesis. However, in mice beta-cell Pam deficiency has no impact on the development of diet- or hIAPP-induced hyperglycemia. Our data are consistent with current studies revealing ancient, highly conserved roles for peptidergic signaling in the coordination of the diverse signals needed to regulate fundamental...
  • Primary Cilia in Hepatic Biliary Hyperplasia: Implications for Liver Diseases
    21 March 2025
    Primary cilia, hair-like projections on the surface of various cell types, play crucial roles in sensing and regulating environmental cues within the liver, particularly among cholangiocytes. These structures detect changes in bile composition, flow, and other biochemical signals, integrating this information to modulate cellular processes. Dysfunction in cholangiocyte cilia-whether due to structural abnormalities or genetic mutations-has been linked to an array of cholangiopathies and...
  • Polycystic Kidney Disease in Children: The Current Status and the Next Horizon
    20 March 2025
    Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are inherited disorders that share many features such as kidney cysts, hypertension, urinary concentrating defects, and progressive chronic kidney disease. Underlying pathogenic mechanisms for both include cilia dysfunction and dysregulated intracellular signaling. ADPKD has been traditionally regarded as an adult-onset disease, whereas ARPKD has been classically described as an...