Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss.
Wu S et al.
Developmental Cell, 2025
Mammalian TMC1 or 2 are necessary for scramblase activity in auditory hair cells.
Peineau T et al.
Hearing Research, 2025
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
Ectopic mouse TMC1 and TMC2 alone form mechanosensitive channels that are potently modulated by TMIE.
Chen Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
Zhang L et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2024
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Frohne A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.
Cho SH et al.
Bmc Medical Genomics, 2023
Mechanoelectrical transduction-related genetic forms of hearing loss.
Jung J et al.
Current Opinion in Physiology, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees.
Kim Y et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2022
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
Nishio SY et al.
Human Genetics, 2022
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
Kraatari-Tiri M et al.
Journal of Clinical Medicine, 2022
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
Beurg M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells.
Trouillet A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Zardadi S et al.
Molecular Genetics & Genomic Medicine, 2020
Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.
Yu X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder.
Lee SY et al.
Diagnostics (basel, Switzerland), 2020
The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees.
Lee SY et al.
Scientific Reports, 2020
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
A Tmc1 mutation reduces calcium permeability and expression of mechanoelectrical transduction channels in cochlear hair cells.
Beurg M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Structural relationship between the putative hair cell mechanotransduction channel TMC1 and TMEM16 proteins.
Ballesteros A et al.
Elife, 2018
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.
Wang H et al.
Molecular Genetics & Genomic Medicine, 2018
Mutation spectra and founder effect of TMC1 in patients with non-syndromic deafness in Xiamen area, China.
Jiang Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Mittal R et al.
Gene, 2018
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.
Singh PK et al.
The Indian Journal of Medical Research, 2017
A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
Bakhchane A et al.
Gene, 2015
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
Gao X et al.
American Journal of Medical Genetics. Part A, 2015
A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.
Hassan MA et al.
Journal of Applied Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.
Kawashima Y et al.
Pflugers Archiv : European Journal of Physiology, 2015
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Wei Q et al.
Journal of Translational Medicine, 2014
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
Nakanishi H et al.
Auris, Nasus, Larynx, 2014
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.
Zhao Y et al.
Plos One, 2014
Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.
Gao X et al.
Plos One, 2013
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.
de Heer AM et al.
Audiology & Neuro-otology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
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.
Yang T et al.
Clinical Genetics, 2010
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
Sirmaci A et al.
International Journal of Pediatric Otorhinolaryngology, 2009
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.
Hilgert N et al.
Journal of Human Genetics, 2009