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肌球蛋白与听力。

Myosins and Hearing.

机构信息

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD, USA.

Department of Physiology, University of Kentucky College of Medicine, Lexington, KY, USA.

出版信息

Adv Exp Med Biol. 2020;1239:317-330. doi: 10.1007/978-3-030-38062-5_13.

Abstract

Hearing loss is both genetically and clinically heterogeneous, and pathogenic variants of over a hundred different genes are associated with this common neurosensory disorder. A relatively large number of these "deafness genes" encode myosin super family members. The evidence that pathogenic variants of human MYO3A, MYO6, MYO7A, MYO15A, MYH14 and MYH9 are associated with deafness ranges from moderate to definitive. Additional evidence for the involvement of these six myosins for normal hearing also comes from animal models, usually mouse or zebra fish, where mutations of these genes cause hearing loss and from biochemical, physiological and cell biological studies of their roles in the inner ear. This chapter focuses on these six genes for which evidence of a causative role in deafness is substantial.

摘要

听力损失在遗传和临床上具有异质性,超过一百种不同基因的致病变体与这种常见的神经感觉障碍有关。其中相当多的“耳聋基因”编码肌球蛋白超家族成员。人类 MYO3A、MYO6、MYO7A、MYO15A、MYH14 和 MYH9 的致病变体与耳聋相关的证据从中度到明确不等。这些肌球蛋白在正常听力中的作用的其他证据也来自动物模型,通常是小鼠或斑马鱼,这些基因的突变导致听力损失,以及对其在内耳中的作用的生化、生理和细胞生物学研究。本章重点介绍这六个基因,它们在耳聋中的因果作用证据确凿。

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