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Select item 108570121.

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 102453382.

TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation

Yuan-Siao Chen, Ernesto Cabrera, Brady J. Tucker, Timothy J. Shin, Jasmine V. Moawad, Douglas J. Totten, Kevin T. Booth, Rick F. Nelson

J Med Genet. Author manuscript; available in PMC 2023 Jun 7.

Published in final edited form as: J Med Genet. 2022 Dec; 59(12): 1219–1226. Published online 2022 Aug 12. doi: 10.1136/jmg-2022-108654

PMCID:: PMC10245338

Abstract Article PDF–930K

Select item 78445513.

Knockdown of TMPRSS3, a Transmembrane Serine Protease, Inhibits Proliferation, Migration, and Invasion in Human Nasopharyngeal Carcinoma Cells

Jun-Ying Wang, Xin Jin, Xiao-Feng Li

Oncol Res. 2018; 26(1): 95–101. Published online 2018 Jan 19. doi: 10.3727/096504017X14920318811695

PMCID:: PMC7844551

Abstract Article PDF–4.4M

Select item 71777194.

Novel Mutations in the TMPRSS3 Gene May Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss

Swee-Hee Wong, Yung-Chang Yen, Shuan-Yow Li, Jiann-Jou Yang

Int J Mol Sci. 2020 Apr; 21(7): 2382. Published online 2020 Mar 30. doi: 10.3390/ijms21072382

PMCID:: PMC7177719

Abstract Article PDF–4.3M

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

Abstract Article PDF–1.1M

Select item 61549966.

In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function

A. Eliot Shearer, Viral D. Tejani, Carolyn J. Brown, Paul J. Abbas, Marlan R. Hansen, Bruce J. Gantz, Richard J. H. Smith

Sci Rep. 2018; 8: 14165. Published online 2018 Sep 21. doi: 10.1038/s41598-018-32630-9

PMCID:: PMC6154996

Abstract Article PDF–3.0M

Select item 59491427.

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 57132168.

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 54853449.

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 545139810.

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Urszula Lechowicz, Tomasz Gambin, Agnieszka Pollak, Anna Podgorska, Piotr Stawinski, Andre Franke, Britt-Sabina Petersen, Malgorzata Firczuk, Monika Oldak, Henryk Skarzynski, Rafal Ploski

Sci Rep. 2017; 7: 2543. Published online 2017 May 31. doi: 10.1038/s41598-017-02315-w

PMCID:: PMC5451398

Abstract Article PDF–1.3M

Select item 530359211.

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 450311812.

TMPRSS3 is a novel poor prognostic factor for breast cancer

Xue Rui, Yanshu Li, Feng Jin, Feng Li

Int J Clin Exp Pathol. 2015; 8(5): 5435–5442. Published online 2015 May 1.

PMCID:: PMC4503118

Abstract Article PDF–871K

Select item 425640413.

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

Dongyan Fan, Wei Zhu, Dejun Li, De Ji, Ping Wang

PLoS One. 2014; 9(12): e114136. Published online 2014 Dec 4. doi: 10.1371/journal.pone.0114136

PMCID:: PMC4256404

Abstract Article PDF–921K

Select item 337405614.

Novel TMPRSS3 variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment

Kwanghyuk Lee, Saadullah Khan, Adeel Islam, Muhammad Ansar, Paula B. Andrade, Stephanie Kim, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal

Clin Genet. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Clin Genet. 2012 Jul; 82(1): 56–63. Published online 2011 May 25. doi: 10.1111/j.1399-0004.2011.01695.x

PMCID:: PMC3374056

Abstract Article PDF–1.4M

Select item 321423715.

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 284109116.

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A Kenna, John H Greinwald, Bruce J Aronow, Heidi L Rehm

BMC Biotechnol. 2010; 10: 10. Published online 2010 Feb 10. doi: 10.1186/1472-6750-10-10

PMCID:: PMC2841091

Abstract Article PDF–634K

Select item 275217217.

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 191507718.

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

B. Bonné-Tamir, A. L. DeStefano, C. E. Briggs, R. Adair, B. Franklyn, S. Weiss, M. Korostishevsky, M. Frydman, C. T. Baldwin, L. A. Farrer

Am J Hum Genet. 1996 Jun; 58(6): 1254–1259.

PMCID:: PMC1915077

Summary Page Browse PDF–925K

Select item 173555619.

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3

Y Lee, D Park, S Kim, W Park

J Med Genet. 2003 Aug; 40(8): 629–631. doi: 10.1136/jmg.40.8.629

PMCID:: PMC1735556

Summary PDF–211K

Select item 173489820.

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

T. Ben-Yosef, M. Wattenhofer, S. Riazuddin, Z. Ahmed, H. Scott, J. Kudoh, K. Shibuya, S. Antonarakis, B. Bonne-Tamir, U. Radhakrishna, S. Naz, Z. Ahmed, S. Riazuddin, A. Pandya, W. Nance, E. Wilcox, T. Friedman, R. Morell

J Med Genet. 2001 Jun; 38(6): 396–400. doi: 10.1136/jmg.38.6.396