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Example sentences for: dfna

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Mutations in TMC1 are responsible for the autosomal dominant human hearing disorder DFNA36 and for the recessive deafness DFNB7/11 [ 5 ] ; the corresponding murine gene Tmc1 also causes deafness in the mutant mouse strains Beethoven ( Bth ) and deafness ( dn ) [ 6 ] . Bth / Bth mice display altered potassium currents in early postnatal cochlear hair cells, in particular Ik,n and Ik,f currents appear to be depressed [ 10 ] . This observation led to the hypothesis that Tmc1 may participate directly or indirectly in regulating the permeability of potassium channels [ 10 ] . Because of the high level of conservation of the amino acid sequences among the eight mammalian TMC proteins (Figure 1, Additional file 1), we speculate that other TMC proteins may as well be modifiers of ion channels or transporters.
This information could be important for an in-depth evaluation of the human deafness related to the Pou4f3 gene, DFNA15 [ 12 ] .