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Genetic Information and Precision Medicine in Hearing Loss.

作者信息

Oh Doo-Yi, Choi Byung Yoon

机构信息

Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam, Korea.

出版信息

Clin Exp Otorhinolaryngol. 2020 Nov;13(4):315-317. doi: 10.21053/ceo.2020.01606. Epub 2020 Nov 1.

DOI:10.21053/ceo.2020.01606
PMID:33176397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7669315/
Abstract
摘要

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Rheumatology (Oxford). 2021 Mar 2;60(3):1523-1532. doi: 10.1093/rheumatology/keaa511.
2
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.重大孟德尔遗传因素对儿童轻度至中度听力损失的影响及其综合诊断方法。
Genet Med. 2020 Jun;22(6):1119-1128. doi: 10.1038/s41436-020-0774-9. Epub 2020 Mar 17.
3
Improved TMC1 gene therapy restores hearing and balance in mice with genetic inner ear disorders.改良的 TMC1 基因治疗恢复遗传性内耳疾病小鼠的听力和平衡。
Nat Commun. 2019 Jan 22;10(1):236. doi: 10.1038/s41467-018-08264-w.
4
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.韩国人 OTOF 相关听觉神经病的突变和表型谱：在实验室和临床之间产生相互作用。
J Transl Med. 2018 Nov 27;16(1):330. doi: 10.1186/s12967-018-1708-z.
5
Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct.在两个患有大前庭导水管综合征的中国家系中，在SLC26A4基因中鉴定出两个复合杂合子。
Clin Exp Otorhinolaryngol. 2019 Feb;12(1):50-57. doi: 10.21053/ceo.2018.00213. Epub 2018 Aug 9.
6
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.ATP1A3 突变可导致进行性听神经病：一种新的听神经突触病基因。
Sci Rep. 2017 Nov 28;7(1):16504. doi: 10.1038/s41598-017-16676-9.
7
mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.突变和耳蜗自身炎症导致综合征性和非综合征性听力损失，DFNA34 对阿那白滞素治疗有反应。
Proc Natl Acad Sci U S A. 2017 Sep 12;114(37):E7766-E7775. doi: 10.1073/pnas.1702946114. Epub 2017 Aug 28.
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PLoS One. 2016 Sep 1;11(9):e0161756. doi: 10.1371/journal.pone.0161756. eCollection 2016.
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Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.使用大规模平行测序技术识别人工耳蜗植入效果不佳的儿童。
Medicine (Baltimore). 2015 Jul;94(27):e1073. doi: 10.1097/MD.0000000000001073.