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TMHS Is an Integral Component of the Mechanotransduction Machinery of Cochlear Hair Cells
TLDR
It is shown that mechanotransduction is impaired in mice lacking the tetraspan TMHS, which resembles other ion channel regulatory subunits such as the transmembrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor regulatory proteins (TARPs) of AMPA receptors that facilitate channel transport and regulate the properties of pore-forming channel subunits. Expand
TMIE Is an Essential Component of the Mechanotransduction Machinery of Cochlear Hair Cells
TLDR
It is shown that the transmembrane protein TMIE forms a ternary complex with the tip-link component PCDH15 and its binding partner TMHS/LHFPL5 and alternative splicing of the PC DH15 cytoplasmic domain regulates formation of this ternARY complex. Expand
Harmonin Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells
TLDR
It is shown that the PDZ-domain protein harmonin is a component of the upper tip-link density (UTLD), where CDH23 inserts into the stereociliary membrane, and contributes to establishing the sensitivity of mechanotransduction channels to displacement. Expand
A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function
TLDR
The findings demonstrate that recessive screens in mice are powerful tools for identifying genes that control the development and function of mechanosensory hair cells and cause deafness in humans, as well as generating animal models for disease. Expand
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
TLDR
It is shown that hearing loss in the ethylnitrosourea-induced samba mouse line is caused by a mutation in Loxhd1, which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Expand
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
TLDR
Loss-of-function mutations of ILDR1, a gene with a conserved expression pattern pointing to a Conserved function in hearing in vertebrates, are identified as underlying nonsyndromic prelingual sensorineural hearing impairment. Expand
Generation and Characterization of Rgs4 Mutant Mice
TLDR
A mouse line deficient for Rgs4, a gene normally expressed early on in discrete populations of differentiating neurons and later on at multiple sites of the central nervous system, the cortex in particular, where it is one of the most highly transcribed Rgs genes. Expand
Dynamic Expression of RGS4 in the Developing Nervous System and Regulation by the Neural Type-Specific Transcription Factor Phox2b
TLDR
Parts of the heterotrimeric G-protein signaling pathway are identified as part of the type-specific program of neuronal differentiation in embryos deficient for Phox2b. Expand
Two-Dimensional Cochlear Micromechanics Measured In Vivo Demonstrate Radial Tuning within the Mouse Organ of Corti
TLDR
The 2-D motion of the organ of Corti in mice was measured and it was found that the structures that stimulate the outer hair cell stereocilia, the tectorial membrane and reticular lamina, were sharply tuned in the radial direction, suggesting that radial tuning comes from passive mechanics within the hair cell epithelium, and that these mechanics, at least in part, may tune the gain of cochlear amplification. Expand
Sphingosine 1-Phosphate (S1P) Signaling Is Required for Maintenance of Hair Cells Mainly via Activation of S1P2
TLDR
It is reported here that sphingosine 1-phosphate (S1P) signaling, mainly via activation of its cognate receptor S1P2, is required for the maintenance of vestibular and cochlear hair cells in vivo and suggests a means for therapeutic intervention in degenerative hearing loss. Expand
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