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Items: 12

Select item 80254721.

A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non-syndromic deafness 2A

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

Mol Med Rep. 2021 Jun; 23(6): 420. Published online 2021 Apr 1. doi: 10.3892/mmr.2021.12059

PMCID:: PMC8025472

Abstract Article PDF–1.5M

Select item 77090792.

Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss

Memoona Ramzan, Hafiza Idrees, Ghulam Mujtaba, Nara Sobreira, P. Dane Witmer, Sadaf Naz

Gene. Author manuscript; available in PMC 2020 Dec 2.

Published in final edited form as: Gene. 2019 Jul 15; 705: 109–112. Published online 2019 Apr 24. doi: 10.1016/j.gene.2019.04.064

PMCID:: PMC7709079

Abstract Article PDF–389K

Select item 37783623.

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

Nelly Abdelfatah, David A McComiskey, Lance Doucette, Anne Griffin, Susan J Moore, Carol Negrijn, Kathy A Hodgkinson, Justin J King, Mani Larijani, Jim Houston, Susan G Stanton, Terry-Lynn Young

Eur J Hum Genet. 2013 Oct; 21(10): 1112–1119. Published online 2013 Feb 27. doi: 10.1038/ejhg.2013.5

PMCID:: PMC3778362

Abstract Article PDF–2.6M

Select item 102961864.

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

Abstract Article PDF–523K

Select item 94965695.

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants

Kazuaki Homma

Biomedicines. 2022 Sep; 10(9): 2254. Published online 2022 Sep 12. doi: 10.3390/biomedicines10092254

PMCID:: PMC9496569

Abstract Article PDF–804K

Select item 68434216.

Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology

Oren Weininger, Athanasia Warnecke, Anke Lesinski-Schiedat, Thomas Lenarz, Stefan Stolle

Audiol Res. 2019 Sep 2; 9(2): 230. Published online 2019 Nov 5. doi: 10.4081/audiores.2019.230

PMCID:: PMC6843421

Abstract Article PDF–155K

Select item 47855407.

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

Daniela T Uehara, Érika L Freitas, Leandro U Alves, Juliana F Mazzeu, Maria TBM Auricchio, Alfredo Tabith, Jr, Mário LR Monteiro, Carla Rosenberg, Regina C Mingroni-Netto

Hum Genome Var. 2015; 2: 15038. Published online 2015 Oct 29. doi: 10.1038/hgv.2015.38

PMCID:: PMC4785540

Abstract Article PDF–1.1M

Select item 37296378.

Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss

Yanhong Gao, Sergey Yechikov, Ana E Vázquez, Dongyang Chen, Liping Nie

J Cell Mol Med. 2013 Jul; 17(7): 889–900. Published online 2013 Jun 11. doi: 10.1111/jcmm.12080

PMCID:: PMC3729637

Abstract Article PDF–736K

Select item 112183079.

A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family

Luping Zhang, Danya Zheng, Lian Xu, Han Wang, Shuqiang Zhang, Jianhua Shi, Nana Jin

Hum Genomics. 2024; 18: 73. Published online 2024 Jul 2. doi: 10.1186/s40246-024-00628-2

PMCID:: PMC11218307

Abstract Article PDF–4.6M

Select item 643157810.

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Kevin T. Booth, James W. Askew, Zohreh Talebizadeh, Patrick L. M. Huygen, James Eudy, Judith Kenyon, Denise Hoover, Michael S. Hildebrand, Katherine R. Smith, Melanie Bahlo, William J. Kimberling, Richard J. H. Smith, Hela Azaiez, Shelley D. Smith

Genet Med. 2019; 21(4): 948–954. Published online 2018 Sep 24. doi: 10.1038/s41436-018-0285-0

PMCID:: PMC6431578

Abstract Article PDF–927K

Select item 423482511.

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Qinjun Wei, Hongmei Zhu, Xuli Qian, Zhibin Chen, Jun Yao, Yajie Lu, Xin Cao, Guangqian Xing

J Transl Med. 2014; 12: 311. Published online 2014 Nov 12. doi: 10.1186/s12967-014-0311-1

PMCID:: PMC4234825

Abstract Article PDF–1.4M

Select item 393171912.

A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

Yu Su, Wen-Xue Tang, Xue Gao, Fei Yu, Zhi-Yao Dai, Jian-Dong Zhao, Yu Lu, Fei Ji, Sha-Sha Huang, Yong-Yi Yuan, Ming-Yu Han, Yue-Shuai Song, Yu-Hua Zhu, Dong-Yang Kang, Dong-Yi HAN, Pu Dai

PLoS One. 2014; 9(2): e89240. Published online 2014 Feb 21. doi: 10.1371/journal.pone.0089240