• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>BioMed research international >Advances in Molecular Genetics and the Molecular Biology of Deafness
【24h】

Advances in Molecular Genetics and the Molecular Biology of Deafness

机译：分子遗传学及耳聋分子生物学的进展

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Congenital sensorineural hearing loss is the most common sensory disorder, with approximately 1 in every 1000 newborns in developed countries suffering from severe-to-profound hearing loss. At least half of those cases are attributable to genetic causes with more than 90 causative genes identified to date reflecting the complex clinical and genetic landscapes of hereditary hearing loss [1,2]. Recent advances in molecular genetics technologies, notably next-generation sequencing (NGS), have drastically accelerated the identification of novel genes involved in hearing mechanism and expanded the mutational spectrum of known deafness-causing genes [3-9]. In addition to NGS, recent progress in genome editing, embryonic stem cells, and induced pluripotent stem cells has opened a new gate to a fast and thorough characterization and understanding of the precise functions and mechanisms involved in the biology of hearing and deafness. This special issue is to exhibit the advances and recent progress in the fields of molecular genetics and molecular biology of hearing and deafness. The review paper by S. Kitajiri and T. Katsuno (Kyoto University) summarized the importance of the tricellular tight junction proteins (tricellulin, occludin, ILDR1, and the angulin family) in the inner ear by acting as a barrier separating the endolymphatic and perilymphatic spaces, which is essential for the generation and maintenance of the endocochlear potential.
机译：先天性传感器听力损失是最常见的感官障碍，在发达国家中每1000名新生儿患有严重致敬的听力损失，大约1例。这些病例中的至少一半是归因于遗传原因，其确定迄今为止迄今为止迄今为止的遗传性听力丧失的复杂临床和遗传景观的遗传原因[1,2]。分子遗传技术的最新进展，特别是下一代测序（NGS），大大加速了参与听力机制的新基因的鉴定，并扩展了已知耳聋引起基因的突变谱[3-9]。除了NGS之外，基因组编辑，胚胎干细胞和诱导多能干细胞的最近进展已经开启了一种新的浇口，以快速和彻底的表征和理解听力和耳聋生物学中涉及的精确功能和机制。这个特别问题是在听力和耳聋的分子遗传和分子生​​物学领域展示进展和最近进展。 S. Kitajiri和T. Katsuno（京都大学）的审查文件总结了三胞胎紧密结蛋白（三胰岛素，occludin，Iildr1和Aganulin家族）通过作为分离内淋巴和漂亮的屏障来总结了内耳的重要性空间，这对于EndoChlear潜力的产生和维护至关重要。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号