Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss.
Wu S et al.
Developmental Cell, 2025
Isogenic induced pluripotent stem cell line ICGi036-A-1 from a patient with familial hypercholesterolaemia, derived by correcting a pathogenic variant of the gene LDLR c.530C>T.
Zueva AS et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 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
Genetic correction of induced pluripotent stem cells from a DFNA36 patient results in morphologic and functional recovery of derived hair cell-like cells.
Luo Y et al.
Stem Cell Research & Therapy, 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
Mutation-agnostic RNA interference with engineered replacement rescues Tmc1-related hearing loss.
Iwasa Y et al.
Life Science Alliance, 2023
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
Nishio SY et al.
Human Genetics, 2022
Generation of a gene corrected human isogenic iPSC line (CPGHi001-A-1) from a hearing loss patient with the TMC1 p.M418K mutation using CRISPR/Cas9.
Wang H et al.
Stem Cell Research, 2022
Preventing autosomal-dominant hearing loss in Bth mice with CRISPR/CasRx-based RNA editing.
Zheng Z et al.
Signal Transduction and Targeted Therapy, 2022
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
Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss.
Botto C et al.
Frontiers in Genome Editing, 2021
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
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Zardadi S et al.
Molecular Genetics & Genomic Medicine, 2020
Generation of a human induced pluripotent stem cell line (CPGHi001-A) from a hearing loss patient with the TMC1 p.M418K mutation.
Wang H et al.
Stem Cell Research, 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
Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families.
Xu P et al.
Neural Plasticity, 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
Function and Dysfunction of TMC Channels in Inner Ear Hair Cells.
Corey DP et al.
Cold Spring Harbor Perspectives in Medicine, 2019
Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss.
György B et al.
Nature Medicine, 2019
Targeted Allele Suppression Prevents Progressive Hearing Loss in the Mature Murine Model of Human TMC1 Deafness.
Yoshimura H et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.
Gao X et al.
Nature, 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
RNA Interference Prevents Autosomal-Dominant Hearing Loss.
Shibata SB et al.
American Journal of Human Genetics, 2016
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
Tmc gene therapy restores auditory function in deaf mice.
Askew C et al.
Science Translational Medicine, 2015
Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.
Kawashima Y et al.
Pflugers Archiv : European Journal of Physiology, 2015
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