Linking genes underlying deafness to hair-bundle development and function.
Linking genes underlying deafness to hair-bundle development and function.
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DOI：
10.1038/nn.2330
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发表时间：
2009-06
影响因子：
25
通讯作者：
Richardson, Guy P.
中科院分区：
文献类型：
--
作者：
Petit, Christine;Richardson, Guy P.
人类单基因早发性耳聋相关基因的鉴定为外周听觉系统听力的分子机制提供了前所未有的见解。由于耳蜗毛细胞中存在的主要细胞类型很少，参与耳蜗发育和功能的分子直到最近才得以表征，但遗传方法已经绕过了这个问题，并成功地识别了蛋白质并破译了一些分子在这些细胞中运作的复合物。结合小鼠模型，遗传方法现在揭示了耳蜗发育和生理学的一些基本原理。这篇评论集中在听力遗传学的这一方面。专注于毛束，感觉毛细胞的mechanosensory设备，我们强调最近的进展，了解毛束的形成方式，它如何作为一个mechanosensor和它如何处理声音。特别是，我们讨论了这项工作如何突出各种发束链接类型所扮演的角色。
The identification of genes underlying monogenic, early-onset forms of deafness in humans has provided unprecedented insight into the molecular mechanisms of hearing in the peripheral auditory system. The molecules involved in the development and function of the cochlea eluded characterization until recently due to the paucity of the principle cell types present in cochlear hair cells, yet a genetic approach has circumvented this problem and succeeded in identifying proteins and deciphering some of the molecular complexes that operate in these cells . In combination with mouse models, the genetic approach is now revealing some of the principles underlying the development and physiology of the cochlea. The review centers on this facet of the genetics of hearing. Focusing on the hair bundle, the mechanosensory device of the sensory hair cell, we highlight recent advances in understanding the way in which the hair bundle is formed, how it operates as a mechanotransducer and how it processes sound. In particular, we discuss how this work highlights the roles played by various hair-bundle link types.
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影响因子：
2.8
作者：
FURNESS, DN;RICHARDSON, GP;RUSSELL, IJ
通讯作者：
RUSSELL, IJ
影响因子：
3.4
作者：
Beurg, Maryline;Nam, Jong-Hoon;Fettiplace, Robert
通讯作者：
Fettiplace, Robert
影响因子：
5.3
作者：
Furness, David N.;Mahendrasingam, Shanthini;Hackney, Carole M.
通讯作者：
Hackney, Carole M.
影响因子：
4.5
作者：
Etheridge SL;Ray S;Li S;Hamblet NS;Lijam N;Tsang M;Greer J;Kardos N;Wang J;Sussman DJ;Chen P;Wynshaw-Boris A
通讯作者：
Wynshaw-Boris A
DOI：
10.1073/pnas.86.8.2918
发表时间：
1989-04-01
影响因子：
11.1
作者：
ASSAD, JA;HACOHEN, N;COREY, DP
通讯作者：
COREY, DP