Breaking the silence: gene therapy offers hope for OTOF-mediated hearing loss, editorial.
作者信息
Hussain Syed Ahmed Shahzaeem, Ali Mohammad Haris, Imtiaz Muhammad Hassan, Al Hasibuzzaman Md
机构信息
Department of ENT, Shaikh Zayed Hospital, Shaikh Zayed Medical Complex.
Shaikh Khalifa Bin Zayed Al-Nahyan Medical and Dental College, Lahore, Pakistan.
出版信息
Ann Med Surg (Lond). 2024 Jul 8;86(9):4950-4951. doi: 10.1097/MS9.0000000000002360. eCollection 2024 Sep.
Abstract
摘要
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AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.AAV1-hOTOF 基因治疗常染色体隐性遗传性耳聋 9 型：一项单臂试验。
Lancet. 2024 May 25;403(10441):2317-2325. doi: 10.1016/S0140-6736(23)02874-X. Epub 2024 Jan 24.
2
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin.听说通过 N 和 C 末端 otoferlin 的反式拼接可以恢复听力缺陷小鼠的听力。
Hum Genet. 2023 Feb;142(2):289-304. doi: 10.1007/s00439-022-02504-2. Epub 2022 Nov 16.
3
Cochlear Implantation Outcomes in Patients With Mutations.携带突变的患者的人工耳蜗植入结果
Front Neurosci. 2020 May 21;14:447. doi: 10.3389/fnins.2020.00447. eCollection 2020.
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Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model.双 AAV 介导的基因治疗恢复 DFNB9 小鼠模型的听力。
Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4496-4501. doi: 10.1073/pnas.1817537116. Epub 2019 Feb 19.
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A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice.双 AAV 方法恢复了耳聋型 otoferlin 敲除小鼠的快速胞吐作用，并部分挽救了其听觉功能。
EMBO Mol Med. 2019 Jan;11(1). doi: 10.15252/emmm.201809396.
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Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017.全球、区域和国家层面 195 个国家和地区 1990 年至 2017 年 354 种疾病和伤害导致的发病率、患病率和伤残损失寿命年：基于 2017 年全球疾病负担研究的系统分析。
Lancet. 2018 Nov 10;392(10159):1789-1858. doi: 10.1016/S0140-6736(18)32279-7. Epub 2018 Nov 8.
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The Epidemiology of Deafness.耳聋的流行病学。
Cold Spring Harb Perspect Med. 2019 Sep 3;9(9):a033258. doi: 10.1101/cshperspect.a033258.
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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.对1119例听力损失患者进行临床评估时的综合基因检测。
Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.
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Nat Rev Drug Discov. 2015 May;14(5):346-65. doi: 10.1038/nrd4533. Epub 2015 Mar 20.
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Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708.
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