The Era of Precision Medicine: Reshaping Usher Syndrome.
作者信息
Jung Jinsei
机构信息
Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea.
出版信息
Clin Exp Otorhinolaryngol. 2020 May;13(2):87-88. doi: 10.21053/ceo.2019.02117. Epub 2020 May 1.
Abstract
摘要
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Clin Exp Otorhinolaryngol. 2020 May;13(2):87-88. doi: 10.21053/ceo.2019.02117. Epub 2020 May 1.
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[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].[从基因到疾病；听力损失和视力损害的遗传原因，有时伴有前庭问题（Usher综合征）]
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Clinical and molecular genetics of Usher syndrome.遗传性耳聋-视网膜色素变性综合征的临床与分子遗传学
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本文引用的文献
1
Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.韩国新型USH2A变异导致的重度或极重度感音神经性听力损失：潜在的基因型-表型相关性
Clin Exp Otorhinolaryngol. 2020 May;13(2):113-122. doi: 10.21053/ceo.2019.00990. Epub 2019 Nov 2.
2
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.意大利乌谢尔综合征患者的靶向下一代测序：表型-基因型相关性。
Sci Rep. 2017 Nov 15;7(1):15681. doi: 10.1038/s41598-017-16014-z.
3
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.基因疗法可恢复乌舍尔综合征小鼠模型的平衡和听觉功能。
Mol Ther. 2017 Mar 1;25(3):780-791. doi: 10.1016/j.ymthe.2017.01.007. Epub 2017 Feb 21.
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Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.基因治疗可恢复1c型Usher综合征小鼠模型的听觉和前庭功能。
Nat Biotechnol. 2017 Mar;35(3):264-272. doi: 10.1038/nbt.3801. Epub 2017 Feb 6.
5
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.USH2A基因中两个截短突变的组合会导致IIa型Usher综合征出现更严重且进行性的听力障碍。
Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16.
6
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.反义寡核苷酸在人类耳聋小鼠模型中对听力和前庭功能的挽救作用。
Nat Med. 2013 Mar;19(3):345-50. doi: 10.1038/nm.3106. Epub 2013 Feb 4.
7
Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.Usher 综合征（感觉神经性耳聋和视网膜色素变性）：发病机制、分子诊断和治疗方法。
Curr Opin Neurol. 2012 Feb;25(1):42-9. doi: 10.1097/WCO.0b013e32834ef8b2.
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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.两例儿科人群中的 Usher 综合征频率：对聋和重听儿童遗传筛查的意义。
Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8.
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Usher syndrome: definition and estimate of prevalence from two high-risk populations.
J Chronic Dis. 1983;36(8):595-603. doi: 10.1016/0021-9681(83)90147-9.
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