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an early frameshift mutation in tmie discovered in a line of deaf and uncoordinated zebrafish with defective hair-cell function
Data show that transmembrane inner ear (tmie)appears to be required for inner ear development and function in the zebrafish and for hair cell maturation in the vestibular and lateral line systems as well.
Description of the spectrum of mutations in TMIE in 374 families with autosomal recessive, non-syndromic hearing loss from India.
genetic mapping data support human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus
identification of 5 different homozygous recessive mutations in a novel gene, TMIE= transmembrane inner ear expressed gene, in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6
The circling mouse is a potential animal model for DFNB6 deafness in humans.
This study demonistrated that TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells.
Tmie is required for maturation and maintenance of hair cells.
Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.
characterized the circling mutation as a 40-kilobase deletion that includes the transmembrane inner ear (tmie) gene
These results clearly indicate that tmie protein plays an important role when the appropriate expression level of tmie was expressed in the inner ear.
This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment.
transmembrane inner ear expressed protein
, transmembrane inner ear
, transmembrane inner ear protein