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Select item 99801761.

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

Article

Select item 32142372.

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

Article PDF–1003K

Select item 30895803.

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

Article PDF–11M

Select item 27521724.

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

Article PDF–159K

Select item 65655885.

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

Article PDF–1.1M

Select item 59491426.

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

Article PDF–18M

Select item 57132167.

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

Article PDF–1.7M

Select item 54853448.

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

Article PDF–1.1M

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

Article PDF–1.9M

Select item 291754210.

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

Article PDF–635K

Select item 52385211.

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

Article PDF–659K

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

Article

Select item 1080461813.

MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population

Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan

BMC Med Genomics. 2024; 17: 32. Published online 2024 Jan 23. doi: 10.1186/s12920-023-01786-3

PMCID:: PMC10804618

Article PDF–1.1M

Select item 1041457914.

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

Jalal Vallian Broojeni, Arezu Kazemi, Halimeh Rezaei, Sadeq Vallian

PLoS One. 2023; 18(8): e0289247. Published online 2023 Aug 10. doi: 10.1371/journal.pone.0289247

PMCID:: PMC10414579

Article PDF–933K

Select item 1021860915.

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov

Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001

PMCID:: PMC10218609

Article PDF–2.1M

Select item 1013865916.

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients

Margit Pál, Dóra Nagy, Alexandra Neller, Katalin Farkas, Dóra Leprán-Török, Nikoletta Nagy, Dalma Füstös, Roland Nagy, Adrienne Németh, Judit Szilvássy, László Rovó, József Géza Kiss, Márta Széll

Int J Mol Sci. 2023 Apr; 24(8): 7401. Published online 2023 Apr 17. doi: 10.3390/ijms24087401

PMCID:: PMC10138659

Article PDF–3.4M

Select item 1011872017.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Chunyun Fu, Haiyang Zheng, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen

Arch Endocrinol Metab. 2016 Jul-Aug; 60(4): 323–327. Published online 2015 Jan 1. doi: 10.1590/2359-3997000000108

PMCID:: PMC10118720

Article PDF–149K

Select item 903498118.

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

Article PDF–487K

Select item 900709419.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159