Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
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
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
Nishio SY et al.
Human Genetics, 2022
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
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
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
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
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
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
Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.
Kawashima Y et al.
Pflugers Archiv : European Journal of Physiology, 2015
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
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
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
Hilgert N et al.
Clinical Genetics, 2008
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.
Kitajiri S et al.
Clinical Genetics, 2007