Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction
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چکیده
منابع مشابه
Gadolinium Inhibits Mechanoelectrical Transduction
Gadolinium (Gd3+) has been shown to prevent mechanoelectrical transduction believed to be mediated through stretch-activated channels. We investigated the possible role of Gd3+-sensitive channels in mediating baroreceptor activity in the carotid sinus of rabbits. Baroreceptor activity induced by a ramp increase of carotid sinus pressure was reduced significantly during exposure to Gd3+. The inh...
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Hair cells are exquisitely specialized mechanoreceptors, responding only to specific frequencies of sound or to distinct head movements (reviewed in Hudspeth, 1989, 1992). A hair cell carries out mechanoelectrical transduction with its mechanically sensitive hair bundle, a beveled collection of stereocilia and one solitary kinocilium. Although the kinocilium is a true cilium, with the familiar ...
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We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. This phenotype co-segregates with either of two frameshift mutations, 1988delAGAG and 2469delGTCA, in ESPN, which encodes a calcium-insensitive actin-bundling protein called espin. A recessive mutation of ESPN is known to cause hearing ...
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ژورنال
عنوان ژورنال: Auris Nasus Larynx
سال: 2014
ISSN: 0385-8146
DOI: 10.1016/j.anl.2014.04.001