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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
TLDR
A gene underlying USH1C is identified, encoding a PDZ-domain–containing protein, harmonin, in a subtracted mouse cDNA library derived from inner ear sensory areas, and it is proposed that Ush1C also underlies the DFNB18 form of isolated deafness. Expand
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
TLDR
Data indicate that KVLQT1 is responsible for both JLN and RW syndromes and has a key role not only in the ventricular repolarization but also in normal hearing, probably via the control of endolymph homeostasis. Expand
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
TLDR
Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 is the first human gene implicated in nonsyndromic deafness due to a neuronal defect. Expand
A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
TLDR
The expression pattern of the murine EYA1 orthologue, Eya1, suggests a role in the development of all components of the inner ear, from the emergence of the otic placode, and in the developing kidney, the expression pattern is indicative of a role for Eya 1 in the metanephric cells surrounding the ‘just-divided’ ureteric branches. Expand
Otogelin: a glycoprotein specific to the acellular membranes of the inner ear.
TLDR
A maturation process of the tectorial membrane is revealed, as evidenced by the progressive organization of otogelin labeling into thick and spaced radial fiber-like structures. Expand
Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals.
TLDR
Otoconin-95 was found to be synthesized by various nonsensory cell types, but not by the supporting cells of the sensory epithelia, which produce the otoconial precursor vesicles, and a model for the formation of the Otoconia is proposed. Expand
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
TLDR
Using immunohistolabeling, it is demonstrated that, in the mouse inner ear, stereocilin is expressed only in the sensory hair cells and is associated with the stereocilia, the stiff microvilli forming the structure for mechanoreception of sound stimulation. Expand
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions
TLDR
It is concluded that the main source of cochlear waveform distortions is a deflection-dependent hair bundle stiffness resulting from constraints imposed by the horizontal top connectors, and not from the intrinsic nonlinear behaviour of the mechanoelectrical transducer channel. Expand
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane
TLDR
It is proposed that horizontal top connectors, which maintain the cohesiveness of the mature OHC hair bundle, are required for tip‐link turnover in the mature cochlea. Expand
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22
TLDR
It is proposed that otoancorin ensures the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Expand
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