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Select item 112042581.

The miR-182-5p/GPX4 Pathway Contributes to Sevoflurane-Induced Ototoxicity via Ferroptosis

Lin Jin, Xiaopei Yu, Xuehua Zhou, Gang Li, Wen Li, Yingzi He, Huawei Li, Xia Shen

Int J Mol Sci. 2024 Jun; 25(12): 6774. Published online 2024 Jun 20. doi: 10.3390/ijms25126774

PMCID:: PMC11204258

Abstract Article PDF–7.7M

Select item 111161622.

听神经病患者中 GJB2 基因变异分布特征及相关性分析

李溢铭, 王洪阳, 李丹阳, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 23–29. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.004

PMCID:: PMC11116162

Abstract Article PDF–3.0M

Select item 111161553.

Otof^-/-成年鼠基因治疗DPOAE和ABR阈值变化研究

王子菁, 曹麒, 胡少伟, 范新泰, 吕俊, 王会, 王武庆, 李华伟, 舒易来

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 49–56. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.008

PMCID:: PMC11116155

Abstract Article PDF–9.6M

Select item 111161544.

儿童轻中度感音神经性听力损失的遗传特征分析

周睿, 关静, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 18–22. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.003

PMCID:: PMC11116154

Abstract Article PDF–683K

Select item 111161525.

GSDME基因剪切变异相关的迟发性非综合征型听力损失

李丹阳, 王洪阳, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 30–37. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.005

PMCID:: PMC11116152

Abstract Article PDF–3.4M

Select item 111149276.

Altered expression of securin (Pttg1) and serpina3n in the auditory system of hearing-impaired Tff3-deficient mice

M. Lubka-Pathak, A. A. Shah, M. Gallozzi, M. Müller, U. Zimmermann, H. Löwenheim, M. Pfister, M. Knipper, N. Blin, T. Schimmang

Cell Mol Life Sci. 2011 Aug; 68(16): 2739–2749. Published online 2010 Nov 15. doi: 10.1007/s00018-010-0586-1

PMCID:: PMC11114927

Abstract Article PDF–1.1M

Select item 110936177.

Alpha9alpha10 knockout mice show altered physiological and behavioral responses to signals in masking noise

Jane A. Mondul, Kali Burke, Barbara Morley, Amanda M. Lauer

J Acoust Soc Am. 2024 May; 155(5): 3183–3194. Published online 2024 May 13. doi: 10.1121/10.0025985

PMCID:: PMC11093617

Abstract Article PDF–3.9M

Select item 110789728.

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein

Sci Rep. 2024; 14: 10551. Published online 2024 May 8. doi: 10.1038/s41598-024-61019-0

PMCID:: PMC11078972

Abstract Article PDF–2.3M

Select item 110340799.

Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing

Heqian Ma, Lina Zhu, Xiao Yang, Meng Ao, Shunxiang Zhang, Meizhen Guo, Xuelin Dai, Xiuwei Ma, Xiaoying Zhang

BMC Genomics. 2024; 25: 391. Published online 2024 Apr 22. doi: 10.1186/s12864-024-10279-1

PMCID:: PMC11034079

Abstract Article PDF–2.5M

Select item 1095356310.

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

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

Adv Sci (Weinh) 2024 Mar; 11(11): 2306788. Published online 2024 Jan 8. doi: 10.1002/advs.202306788

PMCID:: PMC10953563

Abstract Article PDF–4.1M

Select item 1089587011.

Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families

Zainab M. Al Sudani, Teymoor Khosravi, Morteza Oladnabi

J Int Adv Otol. 2024 Jan; 20(1): 44–49. Published online 2024 Jan 1. doi: 10.5152/iao.2024.231214

PMCID:: PMC10895870

Abstract Article PDF–2.9M

Select item 1086446212.

Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3

Heike Jacobi, Martin Andermann, Jennifer Faber, Felicitas Baumann, André Rupp

Cerebellum. 2024; 23(1): 172–180. Published online 2023 Jan 30. doi: 10.1007/s12311-023-01519-3

PMCID:: PMC10864462

Abstract Article PDF–1.1M

Select item 1085807613.

The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice

Corentin Affortit, Carolanne Coyat, Anissa Rym Saidia, Jean-Charles Ceccato, Majida Charif, Emmanuelle Sarzi, Frédéric Flamant, Romain Guyot, Chantal Cazevieille, Jean-Luc Puel, Guy Lenaers, Jing Wang

Cell Mol Life Sci. 2024 Dec; 81(1): 80. Published online 2024 Feb 9. doi: 10.1007/s00018-024-05115-4

PMCID:: PMC10858076

Abstract Article PDF–15M

Select item 1081591314.

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans

Allison J. Kalinousky, Teresa R. Luperchio, Katrina M. Schrode, Jacqueline R. Harris, Li Zhang, Valerie B. DeLeon, Jill A. Fahrner, Amanda M. Lauer, Hans T. Bjornsson

Genes (Basel) 2024 Jan; 15(1): 48. Published online 2023 Dec 28. doi: 10.3390/genes15010048

PMCID:: PMC10815913

Abstract Article PDF–1.9M

Select item 1076759815.

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D‐related Kabuki syndrome

Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Haibo Li

Mol Genet Genomic Med. 2024 Jan; 12(1): e2306. Published online 2023 Nov 3. doi: 10.1002/mgg3.2306

PMCID:: PMC10767598

Abstract Article PDF–1.3M

Select item 1075693216.

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice

Max Drabkin, Matan M. Jean, Yael Noy, Daniel Halperin, Yuval Yogev, Ohad Wormser, Regina Proskorovsky-Ohayon, Vadim Dolgin, Noam Levaot, Vlad Brumfeld, Shira Ovadia, Mor Kishner, Udi Kazenell, Karen B. Avraham, Ilan Shelef, Ohad S. Birk

J Med Genet. Author manuscript; available in PMC 2024 Feb 16.

Published in final edited form as: J Med Genet. 2024 Jan 19; 61(2): 117–124. Published online 2024 Jan 19. doi: 10.1136/jmg-2023-109264

PMCID:: PMC10756932

Abstract Article PDF–923K

Select item 1074895117.

Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report

Ya’nan Zhang, Xinyi Guo, Ling Hao, Meihui Tian, Yuan Ma, Yong Tang

J Int Med Res. 2023 Dec; 51(12): 03000605231218924. Published online 2023 Dec 23. doi: 10.1177/03000605231218924

PMCID:: PMC10748951

Abstract Article PDF–1.1M

Select item 1070061018.

Fatty acid binding protein type 7 deficiency preserves auditory function in noise-exposed mice

Jun Suzuki, Tomotaka Hemmi, Masamitsu Maekawa, Masahiro Watanabe, Hitoshi Inada, Hiroyuki Ikushima, Tetsuya Oishi, Ryoukichi Ikeda, Yohei Honkura, Yoshiteru Kagawa, Tetsuaki Kawase, Nariyasu Mano, Yuji Owada, Noriko Osumi, Yukio Katori

Sci Rep. 2023; 13: 21494. Published online 2023 Dec 6. doi: 10.1038/s41598-023-48702-4