U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 18

1.
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at locus DFNA36-DFNB7/11: Four novel TMC1 mutations
Nele Hilgert, Fatemeh Alasti, Nele Dieltjens, Barbara Pawlik, Bernd Wollnik, Oya Uyguner, Sedigheh Delmaghani, Dominique Weil, Christine Petit, Evi Danis, Tao Yang, Efthimia Pandelia, Michael B. Petersen, Dirk Goossens, Jurgen Del Favero, Mohammad Hossein Sanati, Richard JH Smith, Guy Van Camp
Clin Genet. Author manuscript; available in PMC 2016 Jan 29.
Published in final edited form as: Clin Genet. 2008 Sep; 74(3): 223–232. Published online 2008 Jul 9. doi: 10.1111/j.1399-0004.2008.01053.x
PMCID:
PMC4732719
ArticlePubReaderPDF–552KCite
2.
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
ArticlePubReaderPDF–487KCite
3.
Preventing autosomal-dominant hearing loss in Bth mice with CRISPR/CasRx-based RNA editing
Ziwen Zheng, Guo Li, Chong Cui, Fang Wang, Xiaohan Wang, Zhijiao Xu, Huiping Guo, Yuxin Chen, Honghai Tang, Daqi Wang, Mingqian Huang, Zheng-Yi Chen, Xingxu Huang, Huawei Li, Geng-Lin Li, Xiaoxiang Hu, Yilai Shu
Signal Transduct Target Ther. 2022; 7: 79. Published online 2022 Mar 14. doi: 10.1038/s41392-022-00893-4
PMCID:
PMC8918553
ArticlePubReaderPDF–4.4MCite
4.
Tmc gene therapy restores auditory function in deaf mice
Charles Askew, Cylia Rochat, Bifeng Pan, Yukako Asai, Hena Ahmed, Erin Child, Bernard L. Schneider, Patrick Aebischer, Jeffrey R. Holt
Sci Transl Med. Author manuscript; available in PMC 2020 Jun 17.
Published in final edited form as: Sci Transl Med. 2015 Jul 8; 7(295): 295ra108. doi: 10.1126/scitranslmed.aab1996
PMCID:
PMC7298700
ArticlePubReaderPDF–1.0MCite
5.
The contribution of TMC1 to adaptation of mechanoelectrical transduction channels in cochlear outer hair cells
Adam C. Goldring, Maryline Beurg, Robert Fettiplace
J Physiol. 2019 Dec 15; 597(24): 5949–5961. Published online 2019 Nov 12. doi: 10.1113/JP278799
PMCID:
PMC6910908
ArticlePubReaderPDF–1.8MCite
6.
Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss
Bence György, Carl Nist-Lund, Bifeng Pan, Yukako Asai, K. Domenica Karavitaki, Benjamin Kleinstiver, Sara P. Garcia, Mikołaj P. Zaborowski, Paola Solanes, Sofia Spataro, Bernard Schneider, J. Keith Joung, Gwenaelle S.G. Geleoc, Jeffrey R. Holt, David P. Corey
Nat Med. Author manuscript; available in PMC 2020 Jan 3.
Published in final edited form as: Nat Med. 2019 Jul; 25(7): 1123–1130. Published online 2019 Jul 3. doi: 10.1038/s41591-019-0500-9
PMCID:
PMC6802276
ArticlePubReaderPDF–4.2MCite
7.
Tmc1 Point Mutation Affects Ca2+ Sensitivity and Block by Dihydrostreptomycin of the Mechanoelectrical Transducer Current of Mouse Outer Hair Cells
Laura F. Corns, Stuart L. Johnson, Corné J. Kros, Walter Marcotti
J Neurosci. 2016 Jan 13; 36(2): 336–349. doi: 10.1523/JNEUROSCI.2439-15.2016
PMCID:
PMC4710764
ArticlePubReaderPDF–3.5MCite
8.
Targeted Gene Capture and Massively Parallel Sequencing Identify TMC1 as the Causative Gene in a Six-generation Chinese Family with Autosomal Dominant Hearing Loss
Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin, Pu Dai
Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Am J Med Genet A. 2015 Oct; 167(10): 2357–2365. Published online 2015 Jun 16. doi: 10.1002/ajmg.a.37206
PMCID:
PMC4567392
ArticlePubReaderPDF–786KCite
9.
A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family
Yali Zhao, Dayong Wang, Liang Zong, Feifan Zhao, Liping Guan, Peng Zhang, Wei Shi, Lan Lan, Hongyang Wang, Qian Li, Bing Han, Ling Yang, Xin Jin, Jian Wang, Jun Wang, Qiuju Wang
PLoS One. 2014; 9(5): e97064. Published online 2014 May 14. doi: 10.1371/journal.pone.0097064
PMCID:
PMC4020765
ArticlePubReaderPDF–2.0MCite
10.
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment
Nele Hilgert, Kelly Monahan, Kiyoto Kurima, Cindy Li, Rick A Friedman, Andrew J Griffith, Guy Van Camp
J Hum Genet. Author manuscript; available in PMC 2012 Aug 30.
Published in final edited form as: J Hum Genet. 2009 Mar; 54(3): 188–190. Published online 2009 Jan 30. doi: 10.1038/jhg.2009.1
PMCID:
PMC3431155
ArticlePubReaderPDF–400KCite
11.
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
Minna Kraatari-Tiri, Maria K. Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S. Moilanen, Sanna Häkli, Elisa Rahikkala
J Clin Med. 2022 Apr; 11(7): 1837. Published online 2022 Mar 26. doi: 10.3390/jcm11071837
PMCID:
PMC9000065
ArticlePubReaderPDF–913KCite
12.
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss
Hongyang Wang, Kaiwen Wu, Jing Guan, Ju Yang, Linyi Xie, Fen Xiong, Lan Lan, Dayong Wang, Qiuju Wang
Mol Genet Genomic Med. 2018 Jul; 6(4): 504–513. Published online 2018 Apr 14. doi: 10.1002/mgg3.394
PMCID:
PMC6081220
ArticlePubReaderPDF–4.0MCite
13.
Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea
Walter Marcotti, Alexandra Erven, Stuart L Johnson, Karen P Steel, Corné J Kros
J Physiol. 2006 Aug 1; 574(Pt 3): 677–698. Published online 2006 Apr 20. doi: 10.1113/jphysiol.2005.095661
PMCID:
PMC1817746
ArticlePubReaderPDF–959KCite
14.
Multiple Quantitative Trait Loci Modify Cochlear Hair Cell Degeneration in the Beethoven (Tmc1Bth) Mouse Model of Progressive Hearing Loss DFNA36
Yoshihiro Noguchi, Kiyoto Kurima, Tomoko Makishima, Martin Hrabé de Angelis, Helmut Fuchs, Gregory Frolenkov, Ken Kitamura, Andrew J. Griffith
Genetics. 2006 Aug; 173(4): 2111–2119. doi: 10.1534/genetics.106.057372
PMCID:
PMC1569729
ArticlePubReaderPDF–644KCite
15.
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss
Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu
J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708
PMCID:
PMC9701874
ArticlePubReaderPDF–2.0MCite
16.
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss
Qinjun Wei, Hongmei Zhu, Xuli Qian, Zhibin Chen, Jun Yao, Yajie Lu, Xin Cao, Guangqian Xing
J Transl Med. 2014; 12: 311. Published online 2014 Nov 12. doi: 10.1186/s12967-014-0311-1
PMCID:
PMC4234825
ArticlePubReaderPDF–1.4MCite
17.
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
K Verhoeven, G Van Camp, P J Govaerts, W Balemans, I Schatteman, M Verstreken, L Van Laer, R J Smith, M R Brown, P H Van de Heyning, T Somers, F E Offeciers, P J Willems
Am J Hum Genet. 1997 May; 60(5): 1168–1173.
PMCID:
PMC1712440
SummaryPage BrowsePDF–918KCite
18.
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction
Hiroshi Nakanishi, Kiyoto Kurima, Yoshiyuki Kawashima, Andrew J. Griffith
Auris Nasus Larynx. Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: Auris Nasus Larynx. 2014 Oct; 41(5): 399–408. Published online 2014 Jun 2. doi: 10.1016/j.anl.2014.04.001
PMCID:
PMC4176506
ArticlePubReaderPDF–211KCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center