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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 97709883.

GABA signaling triggered by TMC-1/Tmc delays neuronal aging by inhibiting the PKC pathway in C. elegans

Jieyu Wu, Liuyang Wang, John F. Ervin, Shih-Hsiu J. Wang, Erik Soderblom, Dennis Ko, Dong Yan

Sci Adv. 2022 Dec; 8(51): eadc9236. Published online 2022 Dec 21. doi: 10.1126/sciadv.adc9236

PMCID:: PMC9770988

Abstract Article PDF–2.2M

Select item 90349814.

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 81650305.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 81526076.

New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells

Maryline Beurg, Lisa A. Schimmenti, Alaa Koleilat, Sami S. Amr, Andrea Oza, Amanda J. Barlow, Angela Ballesteros, Robert Fettiplace

J Neurosci. 2021 May 19; 41(20): 4378–4391. doi: 10.1523/JNEUROSCI.2537-20.2021

PMCID:: PMC8152607

Abstract Article PDF–4.6M

Select item 77675687.

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 77035358.

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 74162769.

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 647853210.

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

Select item 629936811.

The intracellular NADH level regulates atrophic nonunion pathogenesis through the CtBP2-p300-Runx2 transcriptional complex

Wentao Zhang, Ning Duan, Qian Zhang, Tao Song, Zhong Li, Xun Chen, Kunzheng Wang

Int J Biol Sci. 2018; 14(14): 2023–2036. Published online 2018 Nov 3. doi: 10.7150/ijbs.28302

PMCID:: PMC6299368

Abstract Article PDF–2.0M

Select item 616668212.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 588812913.

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 585982814.

Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique

Yu Chen, Yu Lu, Pilidong Kuyaxi, Jing Cheng, Juan Zhao, Qi Zhao, Patiguli Musha, Hua Zhang, Huijun Yuan

Dis Markers. 2018; 2018: 5298057. Published online 2018 Mar 5. doi: 10.1155/2018/5298057

PMCID:: PMC5859828

Abstract Article PDF–4.6M

Select item 573593615.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Abstract Article PDF–1.1M

Select item 566316316.

Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India

Pawan Kumar Singh, Manju Ghosh, Shipra Sharma, Shivaram Shastri, Neerja Gupta, Madhumita Roy Chowdhury, Anuranjan Anand, Madhulika Kabra

Indian J Med Res. 2017 Apr; 145(4): 492–497. doi: 10.4103/ijmr.IJMR_397_15

PMCID:: PMC5663163

Abstract Article PDF–1.0M

Select item 559180717.

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation

Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Klemens Frei, Trevor Lucas

Eur Arch Otorhinolaryngol. 2017; 274(10): 3619–3625. Published online 2017 Aug 18. doi: 10.1007/s00405-017-4699-0

PMCID:: PMC5591807

Abstract Article PDF–1.4M

Select item 555356818.

A role for mitochondrial translation in promotion of viability in K-Ras mutant cells

Timothy D. Martin, Danielle R. Cook, Mei Yuk Choi, Mamie Z. Li, Kevin M. Haigis, Stephen J. Elledge

Cell Rep. Author manuscript; available in PMC 2017 Aug 11.

Published in final edited form as: Cell Rep. 2017 Jul 11; 20(2): 427–438. doi: 10.1016/j.celrep.2017.06.061

PMCID:: PMC5553568

Abstract Article PDF–1.8M

Select item 509883319.

Are TMCs the Mechanotransduction Channels of Vertebrate Hair Cells?

David P. Corey, Jeffrey R. Holt

J Neurosci. 2016 Oct 26; 36(43): 10921–10926. doi: 10.1523/JNEUROSCI.1148-16.2016

PMCID:: PMC5098833

Abstract Article PDF–141K

Select item 479597220.

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

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