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Select item 111278201.

Reactivation of hepatitis C virus caused by steroid monotherapy for sudden deafness

Hiroki Kaneko, Yoshinori Ozono, Hisayoshi Iwakiri, Hiroshi Hatada, Naomi Uchiyama, Yuri Komaki, Kenichi Nakamura, Satoru Hasuike, Kenji Nagata, Hiroshi Kawakami

Clin J Gastroenterol. 2024; 17(3): 505–510. Published online 2024 Apr 8. doi: 10.1007/s12328-024-01944-9

PMCID:: PMC11127820

Abstract Article PDF–835K

Select item 111214542.

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene

Abdelaziz Tlili, Abdullah Al Mutery, Jihen Chouchen

Genes (Basel) 2024 May; 15(5): 588. Published online 2024 May 6. doi: 10.3390/genes15050588

PMCID:: PMC11121454

Abstract Article PDF–1.3M

Select item 111206703.

CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction

Jef Driesen, Helen Van Hoecke, Leen Maes, Sandra Janssens, Frederic Acke, Els De Leenheer

Genes (Basel) 2024 May; 15(5): 643. Published online 2024 May 19. doi: 10.3390/genes15050643

PMCID:: PMC11120670

Abstract Article PDF–3.1M

Select item 111161634.

33例不同程度肾损伤Alport综合征患儿远期听力监测分析

郭丽宁, 刘薇, 陈敏, 徐佳童, 马宁, 张晓, 段清川, 刘珊珊, 王晓旭, 甄俊淞, 倪鑫, 张杰

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 44–49. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.007

PMCID:: PMC11116163

Abstract Article PDF–2.1M

Select item 111161625.

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 111161596.

今日聋病遗传咨询

王秋菊, 贺林

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 1–7. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.001

PMCID:: PMC11116159

Abstract Article PDF–1.6M

Select item 111161587.

合并感音神经性耳聋的遗传性内分泌代谢病研究进展

陈芳, 张勤颖, 张秋静, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 63–69. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.010

PMCID:: PMC11116158

Abstract Article PDF–508K

Select item 111161578.

MYO15A 基因罕见突变导致常染色体隐性遗传性耳聋的遗传学及听力表型分析

林妘, 许军, 杨涛

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 38–43. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.006

PMCID:: PMC11116157

Abstract Article PDF–3.3M

Select item 111161549.

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 1111615210.

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 1111466411.

Immunological aspects of 22q11.2 deletion syndrome

A. R. Gennery

Cell Mol Life Sci. 2012 Jan; 69(1): 17–27. Published online 2011 Oct 9. doi: 10.1007/s00018-011-0842-z

PMCID:: PMC11114664

Abstract Article PDF–297K

Select item 1111376412.

The role of genetics in the establishment and maintenance of the epigenome

Covadonga Huidobro, Agustin F. Fernandez, Mario F. Fraga

Cell Mol Life Sci. 2013 May; 70(9): 1543–1573. Published online 2013 Mar 10. doi: 10.1007/s00018-013-1296-2

PMCID:: PMC11113764

Abstract Article PDF–1.6M

Select item 1110614813.

Genetic profile of syndromic retinitis pigmentosa in Portugal

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Marta, Lilianne Duarte, Vitor Miranda, José Costa, Ana Berta Sousa, Virginie G. Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques

Graefes Arch Clin Exp Ophthalmol. 2024; 262(6): 1883–1897. Published online 2024 Jan 8. doi: 10.1007/s00417-023-06360-2

PMCID:: PMC11106148

Abstract Article PDF–1.5M

Select item 1110530814.

Distinct functions of TMC channels: a comparative overview

Xiaomin Yue, Yi Sheng, Lijun Kang, Rui Xiao

Cell Mol Life Sci. 2019 Nov; 76(21): 4221–4232. Published online 2019 Oct 4. doi: 10.1007/s00018-019-03214-1

PMCID:: PMC11105308

Abstract Article PDF–1.0M

Select item 1107248815.

Single-cell RNA-sequencing of zebrafish hair cells reveals novel genes potentially involved in hearing loss

Fuping Qian, Guanyun Wei, Yajing Gao, Xin Wang, Jie Gong, Chao Guo, Xiaoning Wang, Xu Zhang, Jinxiang Zhao, Cheng Wang, Mengting Xu, Yuebo Hu, Guoli Yin, Jiahui Kang, Renjie Chai, Gangcai Xie, Dong Liu

Cell Mol Life Sci. 2022 Jul; 79(7): 385. Published online 2022 Jun 26. doi: 10.1007/s00018-022-04410-2

Correction in:: Cell Mol Life Sci. 2023 Jun; 80(6): 146.

PMCID:: PMC11072488

Abstract Article PDF–4.7M

Select item 1105058716.

Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort

Naoko Sakuma, Shin-ya Nishio, Shin-ichi Goto, Yohei Honkura, Kiyoshi Oda, Hidehiko Takeda, Marina Kobayashi, Kozo Kumakawa, Satoshi Iwasaki, Masahiro Takahashi, Taku Ito, Yasuhiro Arai, Yasuhiro Isono, Natsuko Obara, Takeshi Matsunobu, Kimihiro Okubo, Shin-ichi Usami

Genes (Basel) 2024 Apr; 15(4): 489. Published online 2024 Apr 12. doi: 10.3390/genes15040489

PMCID:: PMC11050587

Abstract Article PDF–1.2M

Select item 1105012717.

Syndromic Retinitis Pigmentosa: A 15-Patient Study

Ianne Pessoa Holanda, Priscila Hae Hyun Rim, Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner

Genes (Basel) 2024 Apr; 15(4): 516. Published online 2024 Apr 20. doi: 10.3390/genes15040516

PMCID:: PMC11050127

Abstract Article PDF–1.3M

Select item 1104630118.

Deafness-associated tRNA^Phe mutation impaired mitochondrial and cellular integrity

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

J Biol Chem. 2024 May; 300(5): 107235. Published online 2024 Mar 27. doi: 10.1016/j.jbc.2024.107235

PMCID:: PMC11046301

Abstract Article PDF–2.3M

Select item 1104538919.

Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant

Gaku Okumura, Katsuya Nakamura, Rie Seyama, Yuri Uchiyama, Jun Shinagawa, Shinya Nishio, Junji Ikeda, Shohei Takayama, Minori Kodaira, Tomoki Kosho, Yutaka Takumi, Naomichi Matsumoto, Yoshiki Sekijima

Intern Med. 2024 Apr 1; 63(7): 1005–1008. Published online 2023 Aug 9. doi: 10.2169/internalmedicine.1935-23

PMCID:: PMC11045389

Abstract Article PDF–519K

Select item 1104320020.

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

Shelby E. Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A. Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A. Indzhykulian, A. Eliot Shearer, Barbara Vona

Hum Genet. 2024; 143(3): 311–329. Published online 2024 Mar 9. doi: 10.1007/s00439-024-02649-2