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中耳炎的基因组学:表征疾病病理生理学的分子遗传学方法

Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology.

作者信息

Giese Arnaud P J, Ali Saadat, Isaiah Amal, Aziz Ishrat, Riazuddin Saima, Ahmed Zubair M

机构信息

Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD, United States.

The Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan.

出版信息

Front Genet. 2020 Apr 23;11:313. doi: 10.3389/fgene.2020.00313. eCollection 2020.

Abstract

Otitis media (OM) is an infective and inflammatory disorder known to be a major cause of hearing impairment across all age groups. Both acute and chronic OM result in substantial healthcare utilization related to antibiotic prescription and surgical procedures necessary for its management. Although several studies provided evidence of genetics playing a significant role in the susceptibility to OM, we had limited knowledge about the genes associated with OM until recently. Here we have summarized the known genetic factors that confer susceptibility to various forms of OM in mice and in humans and their genetic load, along with associated cellular signaling pathways. Spotlighted in this review are fucosyltransferase (FUT) enzymes, which have been implicated in the pathogenesis of OM. A comprehensive understanding of the functions of OM-associated genes may provide potential opportunities for its diagnosis and treatment.

摘要

中耳炎(OM)是一种感染性和炎症性疾病,是所有年龄段听力障碍的主要原因。急性和慢性中耳炎都会导致大量的医疗资源使用,包括抗生素处方以及治疗所需的外科手术。尽管多项研究证明遗传学在中耳炎易感性中起重要作用,但直到最近我们对与中耳炎相关的基因仍知之甚少。在此,我们总结了已知的导致小鼠和人类对各种形式中耳炎易感的遗传因素及其遗传负荷,以及相关的细胞信号通路。本综述重点关注的是岩藻糖基转移酶(FUT)家族酶,它们与中耳炎的发病机制有关。全面了解中耳炎相关基因的功能可能为其诊断和治疗提供潜在机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91f5/7191070/fa31d61695c5/fgene-11-00313-g001.jpg

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