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Select item 27521721.

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Miriam Elbracht, Jan Senderek, Thomas Eggermann, Christian Thürmer, Jonas Park, Martin Westhofen, Klaus Zerres

J Med Genet. 2007 Jun; 44(6): e81. doi: 10.1136/jmg.2007.049122

PMCID:: PMC2752172

Abstract Article PDF–159K

Select item 30895802.

Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

Lydie Fasquelle, Hamish S. Scott, Marc Lenoir, Jing Wang, Guy Rebillard, Sophie Gaboyard, Stéphanie Venteo, Florence François, Anne-Laure Mausset-Bonnefont, Stylianos E. Antonarakis, Elizabeth Neidhart, Christian Chabbert, Jean-Luc Puel, Michel Guipponi, Benjamin Delprat

J Biol Chem. 2011 May 13; 286(19): 17383–17397. Published online 2011 Mar 21. doi: 10.1074/jbc.M110.190652

PMCID:: PMC3089580

Abstract Article PDF–11M

Select item 104919913.

Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8

Wan Du, Volkan Ergin, Corena Loeb, Mingqian Huang, Stewart Silver, Ariel Miura Armstrong, Zaohua Huang, Channabasavaiah B. Gurumurthy, Hinrich Staecker, Xuezhong Liu, Zheng-Yi Chen

Mol Ther. 2023 Sep 6; 31(9): 2796–2810. Published online 2023 May 26. doi: 10.1016/j.ymthe.2023.05.005

PMCID:: PMC10491991

Abstract Article PDF–5.6M

Select item 32142374.

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

Nicole J. D. Weegerink, Margit Schraders, Jaap Oostrik, Patrick L. M. Huygen, Tim M. Strom, Susanne Granneman, Ronald J. E. Pennings, Hanka Venselaar, Lies H. Hoefsloot, Mariet Elting, Cor W. R. J. Cremers, Ronald J. C. Admiraal, Hannie Kremer, Henricus P. M. Kunst

J Assoc Res Otolaryngol. 2011 Dec; 12(6): 753–766. Published online 2011 Jul 23. doi: 10.1007/s10162-011-0282-3

PMCID:: PMC3214237

Abstract Article PDF–1003K

Select item 99801765.

Rescue of Auditory Function by a Single Administration of AAV- TMPRSS3 Gene Therapy in Aged Mice of Human Recessive Deafness DFNB8

Wan Du, Volkan Ergin, Corena Loeb, Mingqian Huang, Stewart Silver, Ariel Miura Armstrong, Zaohua Huang, Channabasavaiah B. Gurumurthy, Hinrich Staecker, Xuezhong Liu, Zheng-Yi Chen

Version 1. bioRxiv. Preprint. 2023 Feb 26. doi: 10.1101/2023.02.25.530035

Published in:: Mol Ther. 2023 Sep 6; 31(9): 2796–2810.

PMCID:: PMC9980176

Abstract Article

Select item 57132166.

The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

Ah Reum Kim, Juyong Chung, Nayoung K. D. Kim, Chung Lee, Woong-Yang Park, Doo-Yi Oh, Byung Yoon Choi

Int J Mol Sci. 2017 Nov; 18(11): 2246. Published online 2017 Oct 26. doi: 10.3390/ijms18112246

PMCID:: PMC5713216

Abstract Article PDF–1.7M

Select item 5238527.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Shotland, Elizabeth Ives, Sheikh Riazuddin, Thomas B Friedman, Robert J Morell, Edward R Wilcox

BMC Med Genet. 2004; 5: 24. Published online 2004 Sep 24. doi: 10.1186/1471-2350-5-24

PMCID:: PMC523852

Abstract Article PDF–659K

Select item 29175428.

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1 – 14q24.3 in large consanguineous kindred from Pakistan

Muhammad Ansar, Mohammad Amin ud Din, Muhammad Arshad, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Wasim Ahmad, Suzanne M Leal

Eur J Hum Genet. Author manuscript; available in PMC 2010 Aug 7.

Published in final edited form as: Eur J Hum Genet. 2003 Jan; 11(1): 77–80. doi: 10.1038/sj.ejhg.5200905

PMCID:: PMC2917542

Abstract Article PDF–635K

Select item 53035929.

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

Xue Gao, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu Su, Xi Lin, Pu Dai

Biomed Res Int. 2017; 2017: 4707315. Published online 2017 Jan 29. doi: 10.1155/2017/4707315

PMCID:: PMC5303592

Abstract Article PDF–1.9M

Select item 548534410.

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population

Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang, Ming-Yu Han, Guo-Jian Wang, Mei-Guang Zhang, Jia Li, Pu Dai

Neural Plast. 2017; 2017: 3192090. Published online 2017 Jun 13. doi: 10.1155/2017/3192090

PMCID:: PMC5485344

Abstract Article PDF–1.1M

Select item 656558811.

Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss

Xinlei Li, Bo Tan, Xiaoqian Wang, Xiaofei Xu, Cuicui Wang, Mingjun Zhong, Qiuling Zhao, Zhongwei Bao, Weihua Peng, Lei Zhang, Jing Cheng, Yu Lu, Peina Wu, Huijun Yuan

Mol Genet Genomic Med. 2019 Jun; 7(6): e685. Published online 2019 Apr 23. doi: 10.1002/mgg3.685

PMCID:: PMC6565588

Abstract Article PDF–1.1M

Select item 1085701212.

Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History

Eric Nisenbaum, Denise Yan, A. Eliot Shearer, Evan de Joya, Torin Thielhelm, Nicole Russell, Hinrich Staecker, Zhengyi Chen, Jeffrey R. Holt, Xuezhong Liu

Audiol Neurootol. 2023 Dec; 28(6): 407–419. Published online 2023 Jun 16. doi: 10.1159/000528766

PMCID:: PMC10857012

Abstract Article

Select item 594914213.

Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti

Wei Liu, Hubert Löwenheim, Peter A. Santi, Rudolf Glueckert, Annelies Schrott-Fischer, Helge Rask-Andersen

Cell Tissue Res. 2018; 372(3): 445–456. Published online 2018 Feb 19. doi: 10.1007/s00441-018-2793-2

PMCID:: PMC5949142

Abstract Article PDF–18M

Select item 350378114.

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

Yongyi Yuan, Weiwei Guo, Jie Tang, Guozheng Zhang, Guojian Wang, Mingyu Han, Xun Zhang, Shiming Yang, David Z. Z. He, Pu Dai

PLoS One. 2012; 7(11): e49984. Published online 2012 Nov 21. doi: 10.1371/journal.pone.0049984

PMCID:: PMC3503781

Abstract Article PDF–187K

Select item 455039315.

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Hong Xia, Xiangjun Huang, Yi Guo, Pengzhi Hu, Guangxiang He, Xiong Deng, Hongbo Xu, Zhijian Yang, Hao Deng

PLoS One. 2015; 10(8): e0136306. Published online 2015 Aug 26. doi: 10.1371/journal.pone.0136306

PMCID:: PMC4550393

Abstract Article PDF–884K

Select item 446475516.

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population

So Young Kim, Ah Reum Kim, Kyu Hee Han, Min Young Kim, Eun-Hee Jeon, Ja-Won Koo, Seung Ha Oh, Byung Yoon Choi

PLoS One. 2015; 10(6): e0125416. Published online 2015 Jun 10. doi: 10.1371/journal.pone.0125416

PMCID:: PMC4464755

Abstract Article PDF–909K

Select item 425094617.

Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population

Marjan Mojtabavi Naeini, Hamzeh Mesrian Tanha, Morteza Hashemzadeh Chaleshtori, Sadeq Vallian

Genet Test Mol Biomarkers. 2014 Dec 1; 18(12): 820–825. doi: 10.1089/gtmb.2014.0178

PMCID:: PMC4250946

Abstract Article PDF–230K

Select item 418512118.

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A. Eliot Shearer, Robert W. Eppsteiner, Kevin T. Booth, Sean S. Ephraim, José Gurrola, II, Allen Simpson, E. Ann Black-Ziegelbein, Swati Joshi, Harini Ravi, Angelica C. Giuffre, Scott Happe, Michael S. Hildebrand, Hela Azaiez, Yildirim A. Bayazit, Mehmet Emin Erdal, Jose A. Lopez-Escamez, Irene Gazquez, Marta L. Tamayo, Nancy Y. Gelvez, Greizy Lopez Leal, Chaim Jalas, Josef Ekstein, Tao Yang, Shin-ichi Usami, Kimia Kahrizi, Niloofar Bazazzadegan, Hossein Najmabadi, Todd E. Scheetz, Terry A. Braun, Thomas L. Casavant, Emily M. LeProust, Richard J.H. Smith

Am J Hum Genet. 2014 Oct 2; 95(4): 445–453. doi: 10.1016/j.ajhg.2014.09.001

PMCID:: PMC4185121

Abstract Article PDF–710K

Select item 402232619.

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

Asma Behlouli, Crystel Bonnet, Samia Abdi, Aïcha Bouaita, Andrea Lelli, Jean-Pierre Hardelin, Cataldo Schietroma, Yahia Rous, Malek Louha, Ahmed Cheknane, Hayet Lebdi, Kamel Boudjelida, Mohamed Makrelouf, Akila Zenati, Christine Petit

Orphanet J Rare Dis. 2014; 9: 55. Published online 2014 Apr 17. doi: 10.1186/1750-1172-9-55

PMCID:: PMC4022326

Abstract Article PDF–3.4M

Select item 375712320.

Screening for MYO15A Gene Mutations in Autosomal Recessive Nonsyndromic, GJB2 Negative Iranian Deaf Population

Zohreh Fattahi, A. Eliot Shearer, Mojgan Babanejad, Niloofar Bazazzadegan, Seyed Navid Almadani, Nooshin Nikzat, Khadijeh Jalalvand, Sanaz Arzhangi, Fatemehsadat Esteghamat, Rezvan Abtahi, Batool Azadeh, Richard J.H. Smith, Kimia Kahrizi, Hossein Najmabadi

Am J Med Genet A. Author manuscript; available in PMC 2013 Aug 29.

Published in final edited form as: Am J Med Genet A. 2012 Aug; 0(8): 1857–1864. Published online 2012 Jun 26. doi: 10.1002/ajmg.a.34411

PMCID:: PMC3757123

Abstract Article PDF–1.7M

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