Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.W588*
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TMC1

NM_138691.3:p.W588*

Associated Papers

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Riahi Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf

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

Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss.

Al Mutery A et al.

Saudi Journal of Biological Sciences, 2023

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.

Nishio SY et al.

Human Genetics, 2022

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

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

Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.

Wang H et al.

Molecular Genetics & Genomic Medicine, 2018

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.

Hu J et al.

Journal of Translational Medicine, 2016

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

Bakhchane A et al.

Gene, 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

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

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

Gene symbol: TMC1. Disease: Deafness.

Hilgert N

Human Genetics, 2008

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

TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.

Tlili A et al.

Audiology & Neuro-otology, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."