PMC Articles for MedGen (Select 355451) - PMC

Select item 38325141.

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

Hee-Jin Kim, Hong-Hee Won, Kyoung-Jin Park, Sung Hwa Hong, Chang-Seok Ki, Sang Sun Cho, Hanka Venselaar, Gert Vriend, Jong-Won Kim

PLoS One. 2013; 8(11): e79063. Published online 2013 Nov 18. doi: 10.1371/journal.pone.0079063

PMCID:: PMC3832514

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Select item 24537832.

Missense Mutations in POU4F3 Cause Autosomal Dominant Hearing Impairment DFNA15 and Affect Subcellular Localization and DNA Binding

Rob W.J. Collin, Ramesh Chellappa, Robert-Jan Pauw, Gert Vriend, Jaap Oostrik, Wendy van Drunen, Patrick L. Huygen, Ronald Admiraal, Lies H. Hoefsloot, Frans P.M. Cremers, Mengqing Xiang, Cor W.R.J. Cremers, Hannie Kremer

Hum Mutat. Author manuscript; available in PMC 2009 Apr 1.

Published in final edited form as: Hum Mutat. 2008 Apr; 29(4): 545–554. doi: 10.1002/humu.20693

PMCID:: PMC2453783

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Select item 2623853.

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

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Select item 103259934.

Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses

Sushma Singh, Cindy Penney, Anne Griffin, Geoffrey Woodland, Salem Werdyani, Tammy A. Benteau, Nelly Abdelfatah, Jessica Squires, Beverly King, Jim Houston, Matthew J. Dyer, Nicole M. Roslin, Daniel Vincent, Pascale Marquis, Darren D. O’Rielly, Kathy Hodgkinson, Taylor Burt, Ashley Baker, Susan G. Stanton, Terry-Lynn Young

Eur J Hum Genet. 2023 Jul; 31(7): 815–823. Published online 2023 Apr 19. doi: 10.1038/s41431-023-01358-0

PMCID:: PMC10325993

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Select item 75533085.

Aldh inhibitor restores auditory function in a mouse model of human deafness

Guang-Jie Zhu, Sihao Gong, Deng-Bin Ma, Tao Tao, Wei-Qi He, Linqing Zhang, Fang Wang, Xiao-Yun Qian, Han Zhou, Chi Fan, Pei Wang, Xin Chen, Wei Zhao, Jie Sun, Huaqun Chen, Ye Wang, Xiang Gao, Jian Zuo, Min-Sheng Zhu, Xia Gao, Guoqiang Wan

PLoS Genet. 2020 Sep; 16(9): e1009040. Published online 2020 Sep 24. doi: 10.1371/journal.pgen.1009040

PMCID:: PMC7553308

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Select item 59047946.

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

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Select item 54352237.

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

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Select item 48337878.

Genetics of vestibular disorders: pathophysiological insights

Lidia Frejo, Ina Giegling, Roberto Teggi, Jose A. Lopez-Escamez, Dan Rujescu

J Neurol. 2016; 263: 45–53. Published online 2016 Apr 15. doi: 10.1007/s00415-015-7988-9

PMCID:: PMC4833787

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Select item 42212829.

Regulation of the Orphan Nuclear Receptor Nr2f2 by the DFNA15 Deafness Gene Pou4f3

Chrysostomos Tornari, Emily R. Towers, Jonathan E. Gale, Sally J. Dawson

PLoS One. 2014; 9(11): e112247. Published online 2014 Nov 5. doi: 10.1371/journal.pone.0112247

PMCID:: PMC4221282

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Select item 1029618610.

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review

Mirko Aldè, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jérôme René Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci

Biomedicines. 2023 Jun; 11(6): 1616. Published online 2023 Jun 1. doi: 10.3390/biomedicines11061616

PMCID:: PMC10296186

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Select item 964562511.

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

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Select item 930605112.

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

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Select item 910940113.

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

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Select item 903498114.

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

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Select item 839134215.

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

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Select item 776233416.

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