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Select item 93060511.

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

Article PDF–2.1M

Select item 88979712.

DFNA5 regulates immune cells infiltration and exhaustion

Jian Hu, Wenceng Pei, Minren Jiang, Ying Huang, Fuyun Dong, Zhenyou Jiang, Ying Xu, Zihuang Li

Cancer Cell Int. 2022; 22: 107. Published online 2022 Mar 5. doi: 10.1186/s12935-022-02487-0

PMCID:: PMC8897971

Article PDF–3.8M

Select item 83902043.

Prognostic role of DFNA5 in head and neck squamous cell carcinoma revealed by systematic expression analysis

Zhiguo Liu, Hongyan Liu, Qian Dong, Hongyu Li, Bin Zhang, Yufeng Liu, Limei Zhong, Haikuo Tang

BMC Cancer. 2021; 21: 951. Published online 2021 Aug 25. doi: 10.1186/s12885-021-08692-w

PMCID:: PMC8390204

Article PDF–5.9M

Select item 74890374.

Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family

Xi Chen, Bao-Long Jia, Mei-Hui Li, Yuan Lyu, Cai-Xia Liu

Front Genet. 2020; 11: 569284. Published online 2020 Aug 31. doi: 10.3389/fgene.2020.569284

PMCID:: PMC7489037

Article PDF–2.4M

Select item 73125365.

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

Article PDF–1.3M

Select item 59767236.

Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss

Hongyang Wang, Jing Guan, Liping Guan, Ju Yang, Kaiwen Wu, Qiongfen Lin, Wenping Xiong, Lan Lan, Cui Zhao, Linyi Xie, Lan Yu, Dan Bing, Lidong Zhao, Dayong Wang, Qiuju Wang

Sci Rep. 2018; 8: 8424. Published online 2018 May 30. doi: 10.1038/s41598-018-26554-7

PMCID:: PMC5976723

Article PDF–2.6M

Select item 58960727.

Large-scale analysis of DFNA5 methylation reveals its potential as biomarker for breast cancer

Lieselot Croes, Matthias Beyens, Erik Fransen, Joe Ibrahim, Wim Vanden Berghe, Arvid Suls, Marc Peeters, Patrick Pauwels, Guy Van Camp, Ken Op de Beeck

Clin Epigenetics. 2018; 10: 51. Published online 2018 Apr 11. doi: 10.1186/s13148-018-0479-y

PMCID:: PMC5896072

Article PDF–1.4M

Select item 58056218.

Exonic mutations and exon skipping: lessons learned from DFNA5

Kevin T Booth, Hela Azaiez, Kimia Kahrizi, Donghong Wang, Yuzhou Zhang, Kathy Frees, Carla Nishimura, Hossein Najmabadi, Richard J Smith

Hum Mutat. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Hum Mutat. 2018 Mar; 39(3): 433–440. Published online 2018 Jan 11. doi: 10.1002/humu.23384

PMCID:: PMC5805621

Article PDF–680K

Select item 54582619.

DFNA5 promoter methylation a marker for breast tumorigenesis

Lieselot Croes, Ken Op de Beeck, Patrick Pauwels, Wim Vanden Berghe, Marc Peeters, Erik Fransen, Guy Van Camp

Oncotarget. 2017 May 9; 8(19): 31948–31958. Published online 2017 Mar 29. doi: 10.18632/oncotarget.16654

PMCID:: PMC5458261

Article PDF–3.8M

Select item 521613110.

Cleavage of DFNA5 by caspase-3 during apoptosis mediates progression to secondary necrotic/pyroptotic cell death

Corey Rogers, Teresa Fernandes-Alnemri, Lindsey Mayes, Diana Alnemri, Gino Cingolani, Emad S. Alnemri

Nat Commun. 2017; 8: 14128. Published online 2017 Jan 3. doi: 10.1038/ncomms14128

PMCID:: PMC5216131

Article PDF–3.0M

Select item 472557111.

IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family

Mei-Na Li-Yang, Xiao-Fei Shen, Qin-Jun Wei, Jun Yao, Ya-Jie Lu, Xin Cao, Guang-Qian Xing

Chin Med J (Engl) 2015 Sep 20; 128(18): 2510–2515. doi: 10.4103/0366-6999.164980

PMCID:: PMC4725571

Article PDF–1.4M

Select item 458140412.

Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study

Xuhui Zhang, Yi Liu, Lei Zhang, Zhangping Yang, Luoxian Yang, Xuchu Wang, CaiXia Jiang, Qiang Wang, Yuyong Xia, Yanjuan Chen, Ou Wu, Yimin Zhu

Environ Health. 2015; 14: 77. Published online 2015 Sep 24. doi: 10.1186/s12940-015-0063-2

PMCID:: PMC4581404

Article PDF–411K

Select item 450414813.

The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways

Sofie Van Rossom, Ken Op de Beeck, Vesna Hristovska, Joris Winderickx, Guy Van Camp

Front Cell Neurosci. 2015; 9: 231. Published online 2015 Jul 16. doi: 10.3389/fncel.2015.00231

PMCID:: PMC4504148

Article PDF–1.3M

Select item 343383814.

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians

Hong-Joon Park, Hyun-Ju Cho, Jeong-In Baek, Tamar Ben-Yosef, Tae-Jun Kwon, Andrew J Griffith, Un-Kyung Kim

J Hum Genet. Author manuscript; available in PMC 2012 Sep 5.

Published in final edited form as: J Hum Genet. 2010 Jan; 55(1): 59–62. Published online 2009 Nov 13. doi: 10.1038/jhg.2009.114

PMCID:: PMC3433838

Article PDF–937K

Select item 340453215.

The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae

Sofie Van Rossom, Ken Op de Beeck, Vanessa Franssens, Erwin Swinnen, Anne Schepers, Ruben Ghillebert, Marina Caldara, Guy Van Camp, Joris Winderickx

Front Oncol. 2012; 2: 77. Published online 2012 Jul 25. doi: 10.3389/fonc.2012.00077

PMCID:: PMC3404532

Article PDF–2.1M

Select item 317936316.

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

Ken Op de Beeck, Guy Van Camp, Sofie Thys, Nathalie Cools, Isabelle Callebaut, Karen Vrijens, Luc Van Nassauw, Viggo FI Van Tendeloo, Jean Pierre Timmermans, Lut Van Laer

Eur J Hum Genet. 2011 Sep; 19(9): 965–973. Published online 2011 Apr 27. doi: 10.1038/ejhg.2011.63

PMCID:: PMC3179363

Article PDF–738K

Select item 309471717.

Methylation of the DFNA5 increases risk of lymph node metastasis in human breast cancer

Myoung Sook Kim, Cinthia Lebron, Jatin K. Nagpal, Young Kwang Chae, Xiaofei Chang, Yiping Huang, Tony Chuang, Keishi Yamashita, Barry Trink, Edward A. Ratovitski, Joseph A. Califano, David Sidransky

Biochem Biophys Res Commun. Author manuscript; available in PMC 2011 May 15.

Published in final edited form as: Biochem Biophys Res Commun. 2008 May 23; 370(1): 38–43. Published online 2008 Mar 17. doi: 10.1016/j.bbrc.2008.03.026

PMCID:: PMC3094717

Article PDF–985K

Select item 269560618.

In CEM cells the autosomal deafness gene dfna5 is regulated by glucocorticoids and forskolin

M.S. Webb, A.L. Miller, E. Brad Thompson

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2009 Jun 12.

Published in final edited form as: J Steroid Biochem Mol Biol. 2007 Oct; 107(1-2): 15–21. Published online 2007 May 24. doi: 10.1016/j.jsbmb.2007.02.004