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Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
TLDR
A locus for dominant deafness is reported, DFNA36, which maps to human chromosome 9q13–21 in a region overlapping the DFNB7/B11 locusfor recessive deafness, and eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), are identified. Expand
Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.
TLDR
The results indicate that TMC1 and TMC2 are necessary for hair cell mechanotransduction and may be integral components of the mechanot Transmembrane channel-like 1 complex and suggest that persistent Tmc2 expression in vestibular hair cells may preserve Vestibular function in humans with hearing loss caused by Tmc1 mutations. Expand
TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear
TLDR
The data demonstrate TMC1 and TMC2 are components of hair cell transduction channels and contribute to permeation properties, and Gradients in TMC channel composition may also contribute to variation in sensory transduction along the tonotopic axis of the mammalian cochlea. Expand
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15
TLDR
The tip-link antigen is identified as an avian ortholog of human protocadherin-15, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye. Expand
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
TLDR
It is demonstrated that if green fluorescent protein (GFP)-Myo15a is transfected into hair cells of Myo15ash2 mice, the wild-type pattern of hair bundles is restored by recruitment of endogenous whirlin to the tips of stereocilia. Expand
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
TLDR
It is reported that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15, and the results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function. Expand
Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29
TLDR
In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti and demonstrated tight junctions in the cochlear duct. Expand
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
TLDR
The phenotype of the Beethoven (Bth) mouse mutant and a missense mutation in Tmc1 (transmembrane cochlear-expressed gene 1) are described, which cause progressive hearing loss and profound congenital deafness. Expand
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
TLDR
It is concluded that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18. Expand
Disruption of fibroblast growth factor receptor 3 signaling results in defects in cellular differentiation, neuronal patterning, and hearing impairment
TLDR
To elucidate the mechanisms underlying the effects of FGFR3, the expression of Bmp4 was increased in Fgfr3−/− cochleae, and exogenous application of bone morphogenetic protein 4 onto cochlear explants induced a significant increase in the outer hair cells, suggesting the Fgf and Bmp signaling act in concert to pattern the coChlea. Expand
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