Varaico: Literature-Extracted Genetic Variants

Gene:TMPRSS3
Variant:p.Y260*
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TMPRSS3

NM_001256317.3:p.Y260*

Associated Papers

Otic organoids: A model to study spiral ganglion neuron characteristics in Tmprss3-deficiency.

Deutschmann AU et al.

Iscience, 2026

Endocochlear potential contributes to hair cell death in TMPRSS3 hearing loss.

Shearer AE et al.

The Journal of Clinical Investigation, 2025

Tmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons.

Arora R et al.

Frontiers in Cellular Neuroscience, 2025

Selection of viral capsids and promoters affects the efficacy of rescue of Tmprss3-deficient cochlea.

Aaron KA et al.

Molecular Therapy. Methods & Clinical Development, 2023

Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8.

Du W et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023

Rescue of Auditory Function by a Single Administration of AAV- TMPRSS3 Gene Therapy in Aged Mice of Human Recessive Deafness DFNB8.

Du W et al.

Biorxiv : the Preprint Server for Biology, 2023

Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids.

Romano DR et al.

Human Genetics, 2022

Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids.

Tang PC et al.

Stem Cell Reports, 2019

Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti.

Liu W et al.

Cell and Tissue Research, 2018

A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.

Chung J et al.

Journal of Molecular Medicine (berlin, Germany), 2014

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.

Molina L et al.

Human Molecular Genetics, 2013

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.

Eppsteiner RW et al.

Hearing Research, 2012

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.

Fasquelle L et al.

The Journal of Biological Chemistry, 2011

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

Guipponi M et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.

Tropitzsch A et al.

Ear and Hearing, 0

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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."