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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.
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
AbstractArticlePDF–2.2M
4.
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
5.
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
AbstractArticlePDF–2.2M
6.
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
AbstractArticlePDF–4.6M
7.
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
8.
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
9.
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
10.
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
11.
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
AbstractArticlePDF–2.0M
12.
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
AbstractArticlePDF–3.8M
13.
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
14.
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
AbstractArticlePDF–4.6M
15.
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
AbstractArticlePDF–1.1M
16.
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
AbstractArticlePDF–1.0M
17.
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
AbstractArticlePDF–1.4M
18.
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
AbstractArticlePDF–1.8M
19.
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
AbstractArticlePDF–141K
20.
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

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