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Items: 1 to 20 of 36

1.
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
AbstractArticle
2.
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
AbstractArticlePDF–930K
3.
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
AbstractArticlePDF–4.4M
4.
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
AbstractArticlePDF–4.3M
5.
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
AbstractArticlePDF–1.1M
6.
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
AbstractArticlePDF–3.0M
7.
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
AbstractArticlePDF–18M
8.
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
AbstractArticlePDF–1.7M
9.
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
AbstractArticlePDF–1.1M
10.
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
AbstractArticlePDF–1.3M
11.
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
AbstractArticlePDF–1.9M
12.
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
AbstractArticlePDF–871K
13.
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
AbstractArticlePDF–921K
14.
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
AbstractArticlePDF–1.4M
15.
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
AbstractArticlePDF–1003K
16.
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
AbstractArticlePDF–634K
17.
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
AbstractArticlePDF–159K
18.
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
SummaryPage BrowsePDF–925K
19.
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
SummaryPDF–211K
20.
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
PMCID:
PMC1734898
SummaryPDF–443K

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