{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTMC1 encodes an integral membrane protein that is essential for normal auditory function. It is highly expressed in cochlear and vestibular hair cells, where it localizes prominently at the tips of stereocilia—the site of mechanotransduction. In this role, TMC1 is thought to form, or be a critical component of, the ion‐conducting pore that converts mechanical stimuli from sound into electrical signals, thereby initiating the sensory cascade in the inner ear."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, studies have shown that TMC1’s contribution to mechanotransduction involves finely tuned ion‐channel properties such as calcium permeability, conductance and resting open probability. Its function appears to be tightly linked to its ability to assemble into a larger macromolecular complex with other key partners—including TMC2 and the scaffolding protein LHFPL5—which assist in its trafficking, stabilization at the plasma membrane, and overall mechanosensory sensitivity of hair cells."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "22"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDefects in TMC1, whether by missense changes that alter channel properties or by disruptions that preclude proper surface expression, lead to various forms of inherited nonsyndromic hearing loss. Research across diverse populations has underscored that mutations in TMC1 not only disturb the fundamental process of mechanotransduction but also serve as key markers for both autosomal dominant and recessive deafness. This insight into TMC1’s function and its partnership with other proteins paves the way for improved molecular diagnosis and potentially targeted therapeutic interventions for hearing impairment."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "23", "end_ref": "33"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Kiyoto Kurima, Linda M Peters, Yandan Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng842"}], "href": "https://doi.org/10.1038/ng842"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11850618"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11850618"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christian G Meyer, Nagla M Gasmelseed, Adil Mergani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9302"}], "href": "https://doi.org/10.1002/humu.9302"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15605408"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15605408"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "E Kalay, A Karaguzel, R Caylan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9384"}], "href": "https://doi.org/10.1002/humu.9384"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16287143"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16287143"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "S-I Kitajiri, R McNamara, T Makishima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2007.00895.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2007.00895.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17877751"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17877751"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Abdelaziz Tlili, Imen Ben Rebeh, Mounira Aifa-Hmani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Audiol Neurootol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000115430"}], "href": "https://doi.org/10.1159/000115430"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18259073"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18259073"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "N Hilgert, F Alasti, N Dieltjens, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2008.01053.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2008.01053.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18616530"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18616530"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Asli Sirmaci, Duygu Duman, Hatice Oztürkmen-Akay, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Pediatr Otorhinolaryngol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijporl.2009.01.005"}], "href": "https://doi.org/10.1016/j.ijporl.2009.01.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19187973"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19187973"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Mariem Ben Saïd, Mounira Hmani-Aifa, Imen Amar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Test Mol Biomarkers (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/gtmb.2009.0174"}], "href": "https://doi.org/10.1089/gtmb.2009.0174"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20373850"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20373850"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Michael S Hildebrand, Kimia Kahrizi, Catherine J Bromhead, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Otol Rhinol Laryngol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/000348941011901207"}], "href": "https://doi.org/10.1177/000348941011901207"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21250555"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21250555"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Anne-Martine R de Heer, Rob W J Collin, Patrick L M Huygen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Audiol Neurootol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000313282"}], "href": "https://doi.org/10.1159/000313282"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21252500"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21252500"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Claire Searle, Lampros A Mavrogiannis, Christopher P Bennett, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Test Mol Biomarkers (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/gtmb.2011.0254"}], "href": "https://doi.org/10.1089/gtmb.2011.0254"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22288896"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22288896"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Xue Gao, Yu Su, Li-Ping Guan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0063026"}], "href": "https://doi.org/10.1371/journal.pone.0063026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23690975"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23690975"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Aparna Ganapathy, Nishtha Pandey, C R Srikumari Srisailapathy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0084773"}], "href": "https://doi.org/10.1371/journal.pone.0084773"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24416283"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24416283"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Yali Zhao, Dayong Wang, Liang Zong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0097064"}], "href": "https://doi.org/10.1371/journal.pone.0097064"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24827932"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24827932"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Elham Davoudi-Dehaghani, Mohammad-Sadegh Fallah, Javad Tavakkoly-Bazzaz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Otolaryngol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3109/00016489.2014.969383"}], "href": "https://doi.org/10.3109/00016489.2014.969383"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25423259"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25423259"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Mohamed Ahamed Hassan, Aftab Ali Shah, Elzbieta Szmida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Appl Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s13353-014-0263-4"}], "href": "https://doi.org/10.1007/s13353-014-0263-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25560804"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25560804"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Ayesha Imtiaz, Azra Maqsood, Atteeq U Rehman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Recessive mutations of TMC1 associated with moderate to severe hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-016-0477-1"}], "href": "https://doi.org/10.1007/s10048-016-0477-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26879195"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26879195"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "David P Corey, Jeffrey R Holt "}, {"type": "b", "children": [{"type": "t", "text": "Are TMCs the Mechanotransduction Channels of Vertebrate Hair Cells?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.1148-16.2016"}], "href": "https://doi.org/10.1523/JNEUROSCI.1148-16.2016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27798174"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27798174"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur Arch Otorhinolaryngol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00405-017-4699-0"}], "href": "https://doi.org/10.1007/s00405-017-4699-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28821934"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28821934"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Pawan Kumar Singh, Manju Ghosh, Shipra Sharma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a novel homozygous mutation in transmembrane channel like 1 ("}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TMC1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": ") gene, one of the second-tier hearing loss genes after "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "GJB2"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " in India."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Indian J Med Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4103/ijmr.IJMR_397_15"}], "href": "https://doi.org/10.4103/ijmr.IJMR_397_15"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28862181"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28862181"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "K Sigvard Olsson, Olof Wålinder, Ulf Jansson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "WHRN"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " and "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TMC1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hereditas (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s41065-017-0052-2"}], "href": "https://doi.org/10.1186/s41065-017-0052-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29270100"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29270100"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Yi Jiang, Song Gao, Lihua Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation spectra and founder effect of TMC1 in patients with non-syndromic deafness in Xiamen area, China."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.32603"}], "href": "https://doi.org/10.1002/ajmg.b.32603"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29533536"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29533536"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Yu Chen, Yu Lu, Pilidong Kuyaxi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dis Markers (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2018/5298057"}], "href": "https://doi.org/10.1155/2018/5298057"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29692870"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29692870"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "William T Harkcom, Maria Papanikolaou, Vikram Kanda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KCNQ1 rescues TMC1 plasma membrane expression but not mechanosensitive channel activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Physiol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jcp.28013"}], "href": "https://doi.org/10.1002/jcp.28013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30613966"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30613966"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Ladan Sadeghian, Mohammad Amin Tabatabaiefar, Najmeh Fattahi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Pediatr Otorhinolaryngol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijporl.2019.05.023"}], "href": "https://doi.org/10.1016/j.ijporl.2019.05.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31176026"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31176026"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Khushnooda Ramzan, Mohammed Al-Owain, Nouf S Al-Numair, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.32774"}], "href": "https://doi.org/10.1002/ajmg.b.32774"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31854501"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31854501"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Pengcheng Xu, Jun Xu, Hu Peng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Compound Heterozygous Mutations in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TMC1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " and "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MYO15A"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neural Plast (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2020/8872185"}], "href": "https://doi.org/10.1155/2020/8872185"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32802042"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32802042"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Xiaojie Yu, Qirui Zhao, Xiaofen Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2011147117"}], "href": "https://doi.org/10.1073/pnas.2011147117"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33168709"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33168709"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomic Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mgg3.1550"}], "href": "https://doi.org/10.1002/mgg3.1550"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33205915"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33205915"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Shin-Ya Nishio, Shin-Ichi Usami "}, {"type": "b", "children": [{"type": "t", "text": "Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-021-02364-2"}], "href": "https://doi.org/10.1007/s00439-021-02364-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34523024"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34523024"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Jieyu Wu, Liuyang Wang, John F Ervin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GABA signaling triggered by TMC-1/Tmc delays neuronal aging by inhibiting the PKC pathway in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "C. elegans"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": "."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Adv (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/sciadv.adc9236"}], "href": "https://doi.org/10.1126/sciadv.adc9236"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36542715"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36542715"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Sung Ho Cho, Yejin Yun, Dae Hee Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12920-023-01766-7"}], "href": "https://doi.org/10.1186/s12920-023-01766-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38066485"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38066485"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Lan Zhang, Qingwen Zhu, Yanzhao Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Biol (Noisy-le-grand) (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.14715/cmb/2024.70.7.19"}], "href": "https://doi.org/10.14715/cmb/2024.70.7.19"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39097884"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39097884"}]}]}]}