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人类和小鼠遗传性听力损失的潜在基因。

Genes underlying hereditary hearing impairment in humans and in mice.

作者信息

Lewis Morag A, Steel Karen P

机构信息

Wolfson Sensory, Pain, and Regeneration Centre, King's College London, London, England, United Kingdom.

出版信息

MicroPubl Biol. 2025 Aug 8;2025. doi: 10.17912/micropub.biology.001728. eCollection 2025.

Abstract

Hearing impairment is a very common disease in the human population, with a high genetic contribution. Here we present a list of genes known to underlie hearing impairment when mutated in humans or in mice. Analysis of the pathways in which the encoded proteins are involved indicates the importance of different signalling pathways to the development and function of the inner ear. The gene list is also useful for identifying candidate genes from human studies such as GWAS or exome sequencing studies.

摘要

听力障碍在人群中是一种非常常见的疾病,具有很高的遗传因素。在此,我们列出了一系列在人类或小鼠中发生突变时已知会导致听力障碍的基因。对编码蛋白所涉及的信号通路进行分析表明,不同的信号通路对内耳的发育和功能至关重要。该基因列表对于从全基因组关联研究(GWAS)或外显子测序研究等人类研究中识别候选基因也很有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb59/12374194/230700f5f068/25789430-2025-micropub.biology.001728.jpg

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