نتایج جستجو برای: tmc1 gene
تعداد نتایج: 1141439 فیلتر نتایج به سال:
چکیده زمینه و هدف: شایع ترین نقص در هنگام تولد ناشنوایی است که تقریباً در 1000/1 از نوزادن متولد شده رخ می دهد. بیشتر از 50% موارد ناشنوایی به صورت ارثی است که از این میان 70% غیر سندرومی می باشند. ناشنوایی یک اختلال بسیار هتروژن می باشد و می تواند به دلیل عوامل ژنتیکی، محیطی یا هردو رخ دهد. حدود 46 ژن در ناشنوایی غیرسندرومی مغلوب اتوزومی درگیر می باشند.یکی از لوکوس های درگیر در ناشنوایی غیر س...
The ability of cochlear hair cells to convert sound into receptor potentials relies on the mechanoelectrical transducer (MET) channels present in their stereociliary bundles. There is strong evidence implying that transmembrane channel-like protein (TMC) 1 contributes to the pore-forming subunit of the mature MET channel, yet its expression is delayed (~>P5 in apical outer hair cells, OHCs) com...
The molecular identity of the channel that mediates mechanotransduction by hair cells remains uncertain, despite being biophysically characterized since the late 1970s (Corey and Hudspeth, 1979). Two recent reports from Jeffrey Holt, Gwenaelle Géléoc, Andrew Griffith, and their colleagues suggested that the hair cell’s transduction channel is made up of members of the transmembrane channel (TMC...
The effects of Tmc1 Beethoven mutation on mechanotransducer channel function in cochlear hair cells.
Sound stimuli are converted into electrical signals via gating of mechano-electrical transducer (MT) channels in the hair cell stereociliary bundle. The molecular composition of the MT channel is still not fully established, although transmembrane channel-like protein isoform 1 (TMC1) may be one component. We found that in outer hair cells of Beethoven mice containing a M412K point mutation in ...
Central to our ability to hear and sense gravity is a cellular process known as mechanotransduction, which is initiated by the opening of mechanosensitive cation channels located near the tips of the stereocilia of auditory and vestibular inner ear hair cells. The molecular identity of the mechanotransduction channels has eluded researchers despite intensive investigations over the years. In th...
We report the detection of the elusive carbon-chain radical C 5 N in the dark cloud TMC1 and its tentative detection in the circumstellar envelope IRC+10216. C 5 N appears to be two orders of magnitude less abundant than the related molecule HC 5 N and much less abundant than expected from current gas phase chemistry models. In comparison the HC 3 N to C 3 N abundance ratio is of the order of 1...
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