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High carrier frequency of the 35delG deafness mutation in European populations
Congenital deafness accounts for about 1 in 1000 infants and approximately 80% of cases are inherited as an autosomal recessive trait. Recently, it has been demonstrated that connexin 26 (GJB2) geneExpand
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Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated thatExpand
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Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
factors1. Mutations in the connexin26 gene (GJB2), located on 13q12, are responsible for non-syndromic recessive and dominant forms of deafness2–4. Connexin-31 and connexin-32 have also beenExpand
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MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell's waltzer (sv) mouse. The corresponding human gene, MYO6, is located onExpand
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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
Abstract. Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations. We have analyzed a total of 576Expand
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Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
Mitochondrial mutations have previously been reported anecdotally in families with maternally inherited, nonsyndromic hearing impairment. To ascertain the contribution of mitochondrial mutations toExpand
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Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Myosins have been implicated in various motile processes, including organelle translocation, ion-channel gating, and cytoskeleton reorganization. Different members of the myosin superfamily areExpand
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Hearing loss: frequency and functional studies of the most common connexin26 alleles.
Mutations in the GJB2 gene, encoding the gap-junction channel protein connexin 26, account for the majority of recessive forms and some of the dominant cases of deafness. Here, we report theExpand
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Pathogenetic role of the deafness-related M34T mutation of Cx26.
Mutations in the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26), are the major cause of genetic non-syndromic hearing loss. The role of the allelic variant M34T in causingExpand
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A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness
Ca2+ enters the stereocilia of hair cells through mechanoelectrical transduction channels opened by the deflection of the hair bundle and is exported back to endolymph by an unusual splicing isoformExpand
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