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Select item 107046771.

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

Abstract Article PDF–2.8M

Select item 99454812.

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

Article PDF–526K

Select item 90349813.

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

Abstract Article PDF–487K

Select item 58881294.

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

Abstract Article PDF–1.0M

Select item 47959725.

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

Abstract Article PDF–547K

Select item 47327196.

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

Abstract Article PDF–552K

Select item 47319517.

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

Abstract Article PDF–1.5M

Select item 45673928.

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

Abstract Article PDF–786K

Select item 41765069.

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

Abstract Article PDF–211K

Select item 402076510.

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

Abstract Article PDF–2.0M

Select item 365392111.

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

Abstract Article PDF–703K

Select item 343115512.

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

Abstract Article PDF–400K

Select item 305862713.

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

Abstract Article PDF–273K

Select item 293695614.

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

Abstract Article PDF–105K

Select item 288209015.

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

Article PDF–787K

Select item 191473216.

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

Summary Page Browse PDF–1.1M

Select item 776756817.

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

Abstract Article PDF–1.9M

Select item 770353518.

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

Abstract Article PDF–1.7M

Select item 741627619.

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

Abstract Article PDF–1.0M

Select item 647853220.

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

Abstract Article PDF–1.4M

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