Results 11 to 20 of about 15,931 (218)
Ciliary Defects in Inherited Retinal Diseases. [PDF]
Adv Genet (Hoboken)The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guo G, Li L, Zhou J, Ran J.
europepmc +2 more sources
Microtubule Inner Protein CFAP77 Contributes to Sperm Motility and Male Fertility in Mice. [PDF]
AndrologyABSTRACT Background Sperm motility is essential for male fertility, and its regulation is dependent on the structural integrity of the axoneme. The axoneme consists of a conserved “9+2” microtubule arrangement and is supported by microtubule inner proteins. However, the functional significance of many microtubule inner proteins remains unclear.
Wang H +4 more
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Cells, 2022 Sperm-associated antigen 6 (SPAG6) is the mammalian orthologue of Chlamydomonas PF16, an axonemal central pair protein involved in flagellar motility. In mice, two Spag6 genes have been identified.
Yi Tian Yap +10 more
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Calaxin stabilizes the docking of outer arm dyneins onto ciliary doublet microtubule in vertebrates
eLife, 2023 Outer arm dynein (OAD) is the main force generator of ciliary beating. Although OAD loss is the most frequent cause of human primary ciliary dyskinesia, the docking mechanism of OAD onto the ciliary doublet microtubule (DMT) remains elusive in ...
Hiroshi Yamaguchi +2 more
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Cells, 2020 Photoreceptor disease results in irreparable vision loss and blindness, which has a dramatic impact on quality of life. Pathogenic mutations in RP1L1 lead to photoreceptor degenerations such as occult macular dystrophy and retinitis pigmentosa.
Nicole C. L. Noel +4 more
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Axonemal Growth and Alignment During Paraspermatogenesis in the Marine Gastropod Strombus luhuanus
Frontiers in Cell and Developmental Biology, 2022 Parasperm are non-fertilizing sperm that are produced simultaneously with fertile eusperm. They occur in several animal species and show considerable morphological diversity.
Daisuke Shibata +6 more
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PLoS Genetics, 2020 Approximately 2-15% of couples experience infertility, and around half of these cases are attributed to male infertility. We previously identified TBC1D21 as a sterility-related RabGAP gene derived from infertile men.
Ya-Yun Wang +7 more
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Cells, 2023 The axoneme and accessory structures of flagella are critical for sperm motility and male fertilization. Sperm production needs precise and highly ordered gene expression to initiate and sustain the many cellular processes that result in mature ...
Xiuqing He +9 more
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Frontiers in Genetics, 2023 Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder characterized by abnormal ciliary motion, due to a defect in ciliary structure and/or function. This genetic condition leads to recurrent upper and lower respiratory infections,
Francesca Paola Luongo +12 more
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A Synthetic Minimal Beating Axoneme
Small, 2022 AbstractCilia and flagella are beating rod‐like organelles that enable the directional movement of microorganisms in fluids and fluid transport along the surface of biological organisms or inside organs. The molecular motor axonemal dynein drives their beating by interacting with microtubules. Constructing synthetic beating systems with axonemal dynein
Isabella Guido +7 more
openaire +4 more sources