نتایج جستجو برای: tmc1 gene
تعداد نتایج: 1141439 فیلتر نتایج به سال:
زمینه و هدف: جهش های ژن tmc1 یکی از فراوان ترین دلایل ناشنوایی غیرسندرومی اتوزومی مغلوب در جمعیت های مختلف می باشد. با توجه به اندازه بزرگ این ژن و جهش های زیاد شناخته شده در آن، استفاده از مارکرهای چند شکل جهت تشخیص ناقلین و تشخیص پیش از تولد پیشنهاد می شود. در مطالعه حاضر، اطلاع دهندگی مارکر d9s1837 با توالی های تکراری ca، در پنج قوم مختلف جمعیت ایرانی مورد بررسی قرار گرفت. روش بررسی: در این ...
Mechanosensory transduction by vertebrate hair cells depends on a protein complex at the tips of shorter stereocilia associated with mechanoelectrical transduction channels activated by tip links in the hair bundle. In mammalian hair cells, this complex includes transmembrane channel-like protein subunit 1 (TMC1), lipoma HMGIC fusion partner-like 5 protein (LHFPL5) and protocadherin 15 (PCDH15)...
Dominant mutations of transmembrane channel-like gene 1 (TMC1) cause progressive sensorineural hearing loss in humans and Beethoven (Tmc1Bth/+) mice. Here we show that Tmc1Bth/+ mice on a C3HeB/FeJ strain background have selective degeneration of inner hair cells while outer hair cells remain structurally and functionally intact. Inner hair cells primarily function as afferent sensory cells, wh...
Hearing impairment is the most common sensory disorder, present in 1 of every 500 newborns. With 46 genes implicated in nonsyndromic hearing loss, it is also an extremely heterogeneous trait. Here, we categorize for the first time all mutations reported in nonsyndromic deafness genes, both worldwide and more specifically in Caucasians. The most frequent genes implicated in autosomal recessive n...
Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJ...
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