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Items: 1 to 20 of 37

1.
Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions
Sung Ho Cho, Yejin Yun, Dae Hee Lee, Joo Hyun Cha, So Min Lee, Jehyun Lee, Myung Hwan Suh, Jun Ho Lee, Seung-Ha Oh, Moo Kyun Park, Sang-Yeon Lee
BMC Med Genomics. 2023; 16: 320. Published online 2023 Dec 8. doi: 10.1186/s12920-023-01766-7
PMCID:
PMC10704677
AbstractArticlePDF–2.8M
2.
A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family
Beiping Zeng, Hongen Xu, Yongan Tian, Qianyu Lin, Haifeng Feng, Zhifeng Zhang, Siqi Li, Wenxue Tang
Chin Med J (Engl) 2022 Nov 5; 135(21): 2631–2633. Published online 2022 Jan 27. doi: 10.1097/CM9.0000000000001966
PMCID:
PMC9945481
ArticlePDF–526K
3.
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
AbstractArticlePDF–487K
4.
Mutation spectra and founder effect of TMC1 in patients with non‐syndromic deafness in Xiamen area, China
Yi Jiang, Song Gao, Lihua Wu, Xiaohua Jin, Tao Deng, Ligang Wang, Shasha Huang, Xue Gao, Juan Chen, Dongyi Han, Huafang Gao, Pu Dai
Am J Med Genet B Neuropsychiatr Genet. 2018 Apr; 177(3): 301–307. Published online 2017 Nov 27. doi: 10.1002/ajmg.b.32603
PMCID:
PMC5888129
AbstractArticlePDF–1.0M
5.
Recessive mutations of TMC1 associated with moderate to severe hearing loss
Ayesha Imtiaz, Azra Maqsood, Atteeq U. Rehman, Robert J. Morell, Jeffrey R. Holt, Thomas B. Friedman, Sadaf Naz
Neurogenetics. Author manuscript; available in PMC 2017 Apr 1.
Published in final edited form as: Neurogenetics. 2016 Apr; 17(2): 115–123. Published online 2016 Feb 16. doi: 10.1007/s10048-016-0477-1
PMCID:
PMC4795972
AbstractArticlePDF–547K
6.
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
AbstractArticlePDF–552K
7.
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss
Jiongjiong Hu, Fei Liu, Wenjun Xia, Lili Hao, Jun Lan, Zhenghua Zhu, Jing Ye, Duan Ma, Zhaoxin Ma
J Transl Med. 2016; 14: 29. Published online 2016 Jan 28. doi: 10.1186/s12967-016-0780-5
PMCID:
PMC4731951
AbstractArticlePDF–1.5M
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
AbstractArticlePDF–786K
9.
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
AbstractArticlePDF–211K
10.
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
AbstractArticlePDF–2.0M
11.
Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
Xue Gao, Yu Su, Li-Ping Guan, Yong-Yi Yuan, Sha-Sha Huang, Yu Lu, Guo-Jian Wang, Ming-Yu Han, Fei Yu, Yue-Shuai Song, Qing-Yan Zhu, Jing Wu, Pu Dai
PLoS One. 2013; 8(5): e63026. Published online 2013 May 14. doi: 10.1371/journal.pone.0063026
PMCID:
PMC3653921
AbstractArticlePDF–703K
12.
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
AbstractArticlePDF–400K
13.
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population
Michael S. Hildebrand, Kimia Kahrizi, Catherine J. Bromhead, A. Eliot Shearer, Jennifer A. Webster, Hossein Khodaei, Rezvan Abtahi, Niloofar Bazazzadegan, Mojgan Babanejad, Nooshin Nikzat, William J. Kimberling, Dietrich Stephan, Partick L.M. Huygen, Melanie Bahlo, Richard J.H. Smith, Hossein Najmabadi
Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2011 Mar 16.
Published in final edited form as: Ann Otol Rhinol Laryngol. 2010 Dec; 119(12): 830–835. doi: 10.1177/000348941011901207
PMCID:
PMC3058627
AbstractArticlePDF–273K
14.
High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects
Mariem Ben Saïd, Mounira Hmani-Aifa, Imen Amar, Shahid Mahmood Baig, Mirna Mustapha, Sedigheh Delmaghani, Abdelaziz Tlili, Abdelmonem Ghorbel, Hammadi Ayadi, Guy Van Camp, Richard J.H. Smith, Mustafa Tekin, Saber Masmoudi
Genet Test Mol Biomarkers. 2010 Jun; 14(3): 307–311. doi: 10.1089/gtmb.2009.0174
PMCID:
PMC2936956
AbstractArticlePDF–105K
15.
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus
Tao Yang, Kimia Kahrizi, Niloofar Bazazzadeghan, Nicole Meyer, Hossein Najmabadi, Richard J.H. Smith
Clin Genet. Author manuscript; available in PMC 2010 Jun 8.
Published in final edited form as: Clin Genet. 2010 Apr; 77(4): 395–398. doi: 10.1111/j.1399-0004.2009.01338.x
PMCID:
PMC2882090
ArticlePDF–787K
16.
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.
D. A. Scott, R. Carmi, K. Elbedour, S. Yosefsberg, E. M. Stone, V. C. Sheffield
Am J Hum Genet. 1996 Aug; 59(2): 385–391.
PMCID:
PMC1914732
SummaryPage BrowsePDF–1.1M
17.
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi
Mol Genet Genomic Med. 2020 Dec; 8(12): e1550. Published online 2020 Nov 18. doi: 10.1002/mgg3.1550
PMCID:
PMC7767568
AbstractArticlePDF–1.9M
18.
Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding
Xiaojie Yu, Qirui Zhao, Xiaofen Li, Yixuan Chen, Ye Tian, Shuang Liu, Wei Xiong, Pingbo Huang
Proc Natl Acad Sci U S A. 2020 Nov 24; 117(47): 29894–29903. Published online 2020 Nov 9. doi: 10.1073/pnas.2011147117
PMCID:
PMC7703535
AbstractArticlePDF–1.7M
19.
Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families
Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang
Neural Plast. 2020; 2020: 8872185. Published online 2020 Aug 1. doi: 10.1155/2020/8872185
PMCID:
PMC7416276
AbstractArticlePDF–1.0M
20.
KCNQ1 rescues TMC1 plasma membrane expression but not mechanosensitive channel activity
William T. Harkcom, Maria Papanikolaou, Vikram Kanda, Shawn M. Crump, Geoffrey W. Abbott
J Cell Physiol. Author manuscript; available in PMC 2020 Aug 1.
Published in final edited form as: J Cell Physiol. 2019 Aug; 234(8): 13361–13369. Published online 2019 Jan 5. doi: 10.1002/jcp.28013
PMCID:
PMC6478532
AbstractArticlePDF–1.4M

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