نتایج جستجو برای: stereocilia
تعداد نتایج: 641 فیلتر نتایج به سال:
The cloning of deafness genes, especially those for Usher syndrome, has helped to identify a variety of structural proteins involved in the development and function of hair-cell stereocilia. These include novel cadherins, a handful of myosin motors, and scaffolding proteins. Yet a new understanding of these proteins has upended the orthodox view of mechanosensation by hair cells.
This review focuses on the cellular and molecular mechanisms underlying the development of the sensory hair bundle, an apical specialisation of the hair cell that is essential for mechanotransduction. The structure, function and development of the hair bundle is described, with an emphasis on the properties and possible roles played by the different link types that interconnect the individual e...
The planar polarity and staircase-like pattern of the hair bundle are essential to the mechanoelectrical transduction function of inner ear sensory cells. Mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15 or sans cause Usher syndrome type I (USH1, characterized by congenital deafness, vestibular dysfunction and retinitis pigmentosa leading to blindness) in humans ...
Usher syndrome type IIa (USH2A) combines moderate to severe congenital hearing impairment and retinitis pigmentosa. It is the most common genetic form of USH. USH2A encodes usherin, which was previously defined as a basement membrane protein. A much larger USH2A transcript predicted to encode a transmembrane (TM) isoform was recently reported. Here, we address the role of TM usherin in the inne...
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