A man presented with 100% immotile spermatozoa. Transmission electron microscopy showed the absence of both central tubules in all sperm tails; the nine peripheral tubules, dynein arms, radial spokes and other structures of the sperm tail were normal. Immotile cilia syndrome of the 9 + 0 tubular pattern was diagnosed. Other anomalies frequently associated with immotile cilia syndrome, such as recurrent airway infections, bronchiectases and situs inversus (Kartagener's syndrome), were not present in this case.
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http://dx.doi.org/10.1007/s001050050137 | DOI Listing |
Biophys Physicobiol
September 2024
Department of Cell Biology, The University of Tokyo, Bunkyo-ku, Tokyo 113-0033, Japan.
Visceral organs in vertebrates are arranged with left-right asymmetry; for example, the heart is located on the left side of the body. Cilia at the node of mouse early embryos play an essential role in determining this left-right asymmetry. Using information from the anteroposterior axis, motile cilia at the central region of the node generate leftward nodal flow.
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December 2024
Laboratoire de Biologie du Développement, LBD, CNRS UMR7622, INSERM U1156, Sorbonne Université, F-75005 Paris, France.
The formation of the embryonic left-right axis is a fundamental process in animals, which subsequently conditions both the shape and the correct positioning of internal organs. During vertebrate early development, a transient structure, known as the left-right organizer, breaks the bilateral symmetry in a manner that is critically dependent on the activity of motile and immotile cilia or asymmetric cell migration. Extensive studies have partially elucidated the molecular pathways that initiate left-right asymmetric patterning and morphogenesis.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Basic Clin Androl
December 2024
RECETOX, Faculty of Science, Masaryk University, Brno, Czech Republic.
Background: Primary ciliary dyskinesia (PCD) is a heterogenous disease caused by mutations of miscellaneous genes which physiologically play an important role in proper structure and/or function of various cellular cilia including sperm flagella. Besides male infertility, the typical phenotypes, based on decreased mucociliary clearance, are lifelong respiratory issues, i.e.
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November 2024
Laboratory of Cytoskeleton and Cilia Biology, Nencki Institute of Experimental Biology of Polish Academy of Sciences, 3 Pasteur Street, 02-093 Warsaw, Poland.
Motile cilia are evolutionarily conserved organelles. In humans, multiciliated cells (MCCs), assembling several hundred motile cilia on their apical surface, are components of the monolayer epithelia lining lower and upper airways, brain ventricles, and parts of the reproductive tracts, the fallopian tube and uterus in females, and efferent ductules in males. The coordinated beating of cilia generates a force that enables a shift of the tubular fluid, particles, or cells along the surface of the ciliated epithelia.
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