ArticleAuris, nasus, larynx2014
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
Article in Auris, nasus, larynx, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- prdm1a drives a fate switch between hair cells of different mechanosensory organs.Nature communications · 2025Article
- Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants.European journal of pediatrics · 2025Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?Audiology research · 2024Review
- Regulation of membrane homeostasis by TMC1 mechanoelectrical transduction channels is essential for hearing.Science advances · 2022Article
- Multiplexed Genome Editing for Efficient Phenotypic Screening in Zebrafish.Veterinary sciences · 2022Article
- Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.Scientific reports · 2021Article
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.Audiology research · 2021Review
- TMC4 is a novel chloride channel involved in high-concentration salt taste sensation.The journal of physiological sciences : JPS · 2021Article
- Article
- Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.Molecular genetics & genomic medicine · 2020Article
- Disruption ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- Recent advances in cochlear hair cell nanophysiology: subcellular compartmentalization of electrical signaling in compact sensory cells.Faculty reviews · 2020Review
- Distinct functions of TMC channels: a comparative overview.Cellular and molecular life sciences : CMLS · 2019Review
- Gene Therapy in Mouse Models of Deafness and Balance Dysfunction.Frontiers in molecular neuroscience · 2018Article
- Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Journal of genetics · 2017Article
- Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.Journal of translational medicine · 2016Article
- Tmc1 Point Mutation Affects Ca2+ Sensitivity and Block by Dihydrostreptomycin of the Mechanoelectrical Transducer Current of Mouse Outer Hair Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Tmc gene therapy restores auditory function in deaf mice.Science translational medicine · 2015Article
- Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.PloS one · 2015Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
objectiveMutations of transmembrane channel-like 1 gene (TMC1) can cause dominant (DFNA36) or recessive (DFNB7/B11) deafness. In this article, we describe the characteristics of DFNA36 and DFNB7/B11 deafness, the features of the Tmc1 mutant mouse strains, and recent advances in our understanding of TMC1 function.
methodsPublications related to TMC1, DFNA36, or DFNB7/B11 were identified through PubMed.
resultsAll affected DFNA36 subjects showed post-lingual, progressive, sensorineural hearing loss (HL), initially affecting high frequencies. In contrast, almost all affected DFNB7/B11 subjects demonstrated congenital or prelingual severe to profound sensorineural HL. The mouse Tmc1 gene also has dominant and recessive mutant alleles that cause HL in mutant strains, including Beethoven, deafness, and Tmc1 knockout mice. These mutant mice have been instrumental for revealing that Tmc1 and its closely related paralog Tmc2 are expressed in cochlear and vestibular hair cells, and are required for hair cell mechanoelectrical transduction (MET). Recent studies suggest that TMC1 and TMC2 may be components of the long-sought hair cell MET channel.
conclusionTMC1 mutations disrupt hair cell MET.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.