耳聋耳鸣相关文献与解析，生知库 | 链接生命科学的每一步

Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness

在人类 DFNB111 耳聋小鼠模型中，通过基因替代疗法恢复多位点表达基因的听力

doi:10.1016/j.ajhg.2024.08.008

Luoying Jiang ，Shao Wei Hu ，Zijing Wang ，Yi Zhou ，Honghai Tang ，Yuxin Chen ，Daqi Wang ，Xintai Fan ，Lei Han ，Huawei Li ，Dazhi Shi ，Yingzi He ，Yilai Shu

发表日期：2024

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Cerebral venous congestion alters CNS homeostatic plasticity, evoking tinnitus-like behavior

脑静脉充血改变中枢神经系统稳态可塑性，引起类似耳鸣的行为

期刊:Cell and Bioscience

影响因子:6.1

doi:10.1186/s13578-024-01221-9

Huimin Wei, Huimin Jiang, Yifan Zhou, Lu Liu, Wei Ma, Shanshan Ni, Chen Zhou, Xunming Ji

Deafness-associated tRNAPhe mutation impaired mitochondrial and cellular integrity

耳聋相关的 tRNAPhe 突变损害了线粒体和细胞的完整性

期刊:Journal of Biological Chemistry

影响因子:4

doi:10.1016/j.jbc.2024.107235

Xiaowan Chen, Feilong Meng, Chao Chen, Shujuan Li, Zhiqiang Chou, Baicheng Xu, Jun Q Mo, Yufen Guo, Min-Xin Guan

Deletion of the Ebf1, a mouse deafness gene, causes a dramatic increase in hair cells and support cells of the organ of Corti

删除小鼠耳聋基因 Ebf1 会导致柯蒂氏器的毛细胞和支持细胞急剧增加

期刊:Development

影响因子:3.7

doi:10.1242/dev.202816

Kathryn G Powers, Brent A Wilkerson, Kylie E Beach, Sophie S Seo, Jose S Rodriguez, Ashton N Baxter, Sarah E Hunter, Olivia Bermingham-McDonogh

The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis

线粒体功能障碍的基因组镶嵌：解码核和线粒体的表观遗传对母系遗传糖尿病和耳聋发病机制的贡献

期刊:Heliyon

影响因子:3.4

doi:10.1016/j.heliyon.2024.e34756

Luigi Donato, Concetta Scimone, Simona Alibrandi, Maria Vadalà, Massimo Castellucci, Vincenza Maria Elena Bonfiglio, Sergio Zaccaria Scalinci, Giorgia Abate, Rosalia D'Angelo, Antonina Sidoti

A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction

小鼠 Cdh23 基因中的一种新拷贝数变异导致严重耳聋和前庭功能障碍

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddae095

Nicholas A Boehler, Shane D I Seheult, Muhammad Wahid, Kazuma Hase, Sierra F D'Amico, Shakshi Saini, Brittany Mascarenhas, Matthew E Bergman, Michael A Phillips, Paul A Faure, Hai-Ying Mary Cheng

Single cell RNA sequencing provides novel cellular transcriptional profiles and underlying pathogenesis of presbycusis

单细胞 RNA 测序提供了新的细胞转录谱和老年性耳聋的潜在发病机制

期刊:BMC Medical Genomics

影响因子:2.1

doi:10.1186/s12920-024-02001-7

Juhong Zhang, Lili Xiang, Wenfang Sun, Menglong Feng, Zhiji Chen, Hailan Mo, Haizhu Ma, Li Yang, Shaojing Kuang, Yaqin Hu, Jialin Guo, Yijun Li, Wei Yuan

Functional Studies of Deafness-Associated Pendrin and Prestin Variants

耳聋相关Pendrin和Prestin变异体的功能研究

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms25052759

Satoe Takahashi ,Takashi Kojima ,Koichiro Wasano ,Kazuaki Homma

发表日期：2024

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AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness

AAV 介导的基因疗法可恢复 DFNB9 耳聋患者的听力

期刊:Advanced Science

影响因子:

doi:10.1002/advs.202306788

Jieyu Qi, Fangzhi Tan, Liyan Zhang, Ling Lu, Shanzhong Zhang, Yabo Zhai, Yicheng Lu, Xiaoyun Qian, WenXiu Dong, Yinyi Zhou, Ziyu Zhang, Xuehan Yang, Lulu Jiang, Chaorong Yu, Jiancheng Liu, Tian Chen, Lianqiu Wu, Chang Tan, Sijie Sun, Huaien Song, Yilai Shu, Lei Xu, Xia Gao, Huawei Li, Renjie Chai

Targets of the transcription factor Six1 identify previously unreported candidate deafness genes.

转录因子 Six1 的靶标识别出以前未报道过的候选耳聋基因

Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness

在人类 DFNB111 耳聋小鼠模型中，通过基因替代疗法恢复多位点表达基因的听力

Cerebral venous congestion alters CNS homeostatic plasticity, evoking tinnitus-like behavior

脑静脉充血改变中枢神经系统稳态可塑性，引起类似耳鸣的行为

Deafness-associated tRNAPhe mutation impaired mitochondrial and cellular integrity

耳聋相关的 tRNAPhe 突变损害了线粒体和细胞的完整性

Deletion of the Ebf1, a mouse deafness gene, causes a dramatic increase in hair cells and support cells of the organ of Corti

删除小鼠耳聋基因 Ebf1 会导致柯蒂氏器的毛细胞和支持细胞急剧增加

The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis

线粒体功能障碍的基因组镶嵌：解码核和线粒体的表观遗传对母系遗传糖尿病和耳聋发病机制的贡献

A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction

小鼠 Cdh23 基因中的一种新拷贝数变异导致严重耳聋和前庭功能障碍

Single cell RNA sequencing provides novel cellular transcriptional profiles and underlying pathogenesis of presbycusis

单细胞 RNA 测序提供了新的细胞转录谱和老年性耳聋的潜在发病机制

Functional Studies of Deafness-Associated Pendrin and Prestin Variants

耳聋相关Pendrin和Prestin变异体的功能研究

AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness

AAV 介导的基因疗法可恢复 DFNB9 耳聋患者的听力