Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
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DOI：
10.1016/j.bbadis.2014.11.020
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发表时间：
2015-03
影响因子：
6.2
通讯作者：
Yang, Jun
中科院分区：
文献类型：
--
作者：
Mathur, Pranav;Yang, Jun
关键词：
Usher综合征（USH），临床和遗传异质性，是听力和视力丧失的主要遗传原因。USH根据患者的听力和前庭症状分为三种类型。16个基因座与USH和非典型USH的发生有关。其中，12个已被确定为致病基因和一个作为修饰基因。对这些USH基因编码的蛋白质的研究表明，USH蛋白质之间相互作用，并在体内的多蛋白复合物中发挥作用。虽然它们的确切功能在视网膜中仍然是个谜，但USH蛋白是毛束的发育、维持和功能所必需的，毛束是内耳毛细胞的主要机械敏感结构。尽管无法治愈，但在开发有效治疗这种疾病的方法方面取得了进展。在这篇综述中，我们重点介绍了该领域的最新发现，重点是USH基因，蛋白质复合物和各种组织中的功能以及USH治疗发展的进展。
Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. USH is classified into three types, based on the hearing and vestibular symptoms observed in patients. Sixteen loci have been reported to be involved in the occurrence of USH and atypical USH. Among them, twelve have been identified as causative genes and one as a modifier gene. Studies on the proteins encoded by these USH genes suggest that USH proteins interact among one another and function in multiprotein complexes in vivo. Although their exact functions remain enigmatic in the retina, USH proteins are required for the development, maintenance and function of hair bundles, which are the primary mechanosensitive structure of inner ear hair cells. Despite the unavailability of a cure, progress has been made to develop effective treatments for this disease. In this review, we focus on the most recent discoveries in the field with an emphasis on USH genes, protein complexes and functions in various tissues as well as progress toward therapeutic development for USH.
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影响因子：
9.8
作者：
Ahmed, ZM;Riazuddin, S;Wilcox, ER
通讯作者：
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影响因子：
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DOI：
10.1016/j.ijporl.2013.05.022
发表时间：
2013-08-01
影响因子：
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