PMC Articles for MedGen (Select 355451) - PMC

Select item 111161521.

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 106308772.

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse

Guang‐Jie Zhu, Yuhang Huang, Linqing Zhang, Keji Yan, Cui Qiu, Yihan He, Qing Liu, Chengwen Zhu, Matías Morín, Miguel Ángel Moreno‐Pelayo, Min‐Sheng Zhu, Xin Cao, Han Zhou, Xiaoyun Qian, Zhigang Xu, Jie Chen, Xia Gao, Guoqiang Wan

EMBO Mol Med. 2023 Nov; 15(11): e17611. Published online 2023 Sep 11. doi: 10.15252/emmm.202317611

PMCID:: PMC10630877

Abstract Article PDF–5.3M

Select item 104006273.

Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects

Sang-Yeon Lee, Min Young Kim, Jin Hee Han, Sang Soo Park, Yejin Yun, Seung-Cheol Jee, Jae Joon Han, Jun Ho Lee, Heeyoung Seok, Byung Yoon Choi

Sci Rep. 2023; 13: 12584. Published online 2023 Aug 3. doi: 10.1038/s41598-023-38272-w

PMCID:: PMC10400627

Abstract Article PDF–2.5M

Select item 96456254.

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss

Peiliang Lei, Qingwen Zhu, Wenrong Dong, Siqi Zhang, Yanyan Sun, Xitong Du, Meng Geng, Yuan Jiang

PLoS One. 2022; 17(11): e0276233. Published online 2022 Nov 9. doi: 10.1371/journal.pone.0276233

PMCID:: PMC9645625

Abstract Article PDF–1.6M

Select item 93060515.

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family

Qiong Li, Shujuan Wang, Pengfei Liang, Wei Li, Jian Wang, Bei Fan, Yang Yang, Xiaogang An, Jun Chen, Dingjun Zha

BMC Med Genomics. 2022; 15: 163. Published online 2022 Jul 21. doi: 10.1186/s12920-022-01315-8

PMCID:: PMC9306051

Abstract Article PDF–2.1M

Select item 91094016.

Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

Weixun Zhang, Jing Song, Busheng Tong, Mengye Ma, Luo Guo, Yasheng Yuan, Juanmei Yang

BMC Med Genomics. 2022; 15: 113. Published online 2022 May 16. doi: 10.1186/s12920-022-01269-x

PMCID:: PMC9109401

Abstract Article PDF–1.0M

Select item 90349817.

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss

Shin-ya Nishio, Shin-ichi Usami

Hum Genet. 2022; 141(3-4): 929–937. Published online 2021 Sep 14. doi: 10.1007/s00439-021-02364-2

PMCID:: PMC9034981

Abstract Article PDF–487K

Select item 83913428.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino

Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277

PMCID:: PMC8391342

Abstract Article PDF–1.2M

Select item 77623349.

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice

Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller

Genes (Basel) 2020 Dec; 11(12): 1467. Published online 2020 Dec 7. doi: 10.3390/genes11121467

PMCID:: PMC7762334

Abstract Article PDF–3.1M

Select item 734962710.

Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss

Tian-Yi Cui, Xue Gao, Sha-Sha Huang, Yan-Yan Sun, Si-Qi Zhang, Xin-Xia Jiang, Yan-Zhong Yang, Dong-Yang Kang, Qing-Wen Zhu, Yong-Yi Yuan

Neural Plast. 2020; 2020: 6137083. Published online 2020 Jul 1. doi: 10.1155/2020/6137083

PMCID:: PMC7349627

Abstract Article PDF–1.0M

Select item 731253611.

DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

Kevin T. Booth, Hela Azaiez, Richard J. H. Smith

Int J Mol Sci. 2020 Jun; 21(11): 3951. Published online 2020 May 31. doi: 10.3390/ijms21113951

PMCID:: PMC7312536

Abstract Article PDF–1.3M

Select item 590479412.

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

Xue Gao, Jin-Cao Xu, Wei-Qian Wang, Yong-Yi Yuan, Dan Bai, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jia Li, Dong-Yang Kang, Mei-Guang Zhang, Xi Lin, Pu Dai

Biomed Res Int. 2018; 2018: 5370802. Published online 2018 Apr 4. doi: 10.1155/2018/5370802

PMCID:: PMC5904794

Abstract Article PDF–1.0M

Select item 543522313.

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

Tomohiro Kitano, Maiko Miyagawa, Shin-ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-ichi Nakamura, Takaaki Murata, Rina Matsuoka, Yoko Ohta, Nobuhiro Nishiyama, Kozo Kumakawa, Sakiko Furutate, Satoshi Iwasaki, Takechiyo Yamada, Yumi Ohta, Natsumi Uehara, Yoshihiro Noguchi, Shin-ichi Usami

PLoS One. 2017; 12(5): e0177636. Published online 2017 May 17. doi: 10.1371/journal.pone.0177636

PMCID:: PMC5435223

Abstract Article PDF–2.7M

Select item 399496614.

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

Haihua Bai, Xukui Yang, Temuribagen, Guilan, Suyalatu, Narisu Narisu, Huiguang Wu, Yujie Chen, Yangjian Liu, Qizhu Wu

BMC Med Genet. 2014; 15: 34. Published online 2014 Mar 19. doi: 10.1186/1471-2350-15-34

PMCID:: PMC3994966

Abstract Article PDF–1.9M

Select item 360809615.

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

Gibeom Park, Jungsoo Gim, Arheum Kim, Kyu-Hee Han, Hyo-Sang Kim, Seung-Ha Oh, Taesung Park, Woong-Yang Park, ByungYoon Choi

BMC Genomics. 2013; 14: 191. Published online 2013 Mar 18. doi: 10.1186/1471-2164-14-191

PMCID:: PMC3608096

Abstract Article PDF–1.6M

Select item 26238516.

The DFNA15 Deafness Mutation Affects POU4F3 Protein Stability, Localization, and Transcriptional Activity

Sigal Weiss, Irit Gottfried, Itay Mayrose, Suvarna L. Khare, Mengqing Xiang, Sally J. Dawson, Karen B. Avraham

Mol Cell Biol. 2003 Nov; 23(22): 7957–7964. doi: 10.1128/MCB.23.22.7957-7964.2003

PMCID:: PMC262385

Abstract Article PDF–498K

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