Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.Y501H
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SLC26A5

NM_198999.3:p.Y501H

Associated Papers

Hearing Loss and Audiogenic Seizures Induced by Hypofunctional Prestin Variants.

Takahashi S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

The frequency dependence of prestin-mediated fast electromotility for mammalian cochlear amplification.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

The molecular principles underlying diverse functions of the SLC26 family of proteins.

Takahashi S et al.

The Journal of Biological Chemistry, 2024

The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.

Takahashi S et al.

The Journal of Physiology, 2024

The molecular principles underlying diverse functions of the SLC26 family of proteins.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2023

The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2023

Prestin's fast motor kinetics is essential for mammalian cochlear amplification.

Takahashi S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

The conformational cycle of prestin underlies outer-hair cell electromotility.

Bavi N et al.

Nature, 2021

Deletion of exons 17 and 18 in prestin's STAS domain results in loss of function.

Takahashi S et al.

Scientific Reports, 2019

The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.

Takahashi S et al.

Journal of Molecular Medicine (berlin, Germany), 2016

Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation.

Zhang J et al.

Mutation Research, 2016

The V499G/Y501H mutation impairs fast motor kinetics of prestin and has significance for defining functional independence of individual prestin subunits.

Homma K et al.

The Journal of Biological Chemistry, 2013

Normal hearing sensitivity at low-to-middle frequencies with 34% prestin-charge density.

Yamashita T et al.

Plos One, 2012

Structural rearrangements of the motor protein prestin revealed by fluorescence resonance energy transfer.

Gleitsman KR et al.

American Journal of Physiology. Cell Physiology, 2009

Identifying components of the hair-cell interactome involved in cochlear amplification.

Zheng J et al.

Bmc Genomics, 2009

alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells.

Legendre K et al.

Journal of Cell Science, 2008

The role of the STAS domain in the function and biogenesis of a sulfate transporter as probed by random mutagenesis.

Shibagaki N et al.

The Journal of Biological Chemistry, 2006

The C-terminus of prestin influences nonlinear capacitance and plasma membrane targeting.

Zheng J et al.

Journal of Cell Science, 2005

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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."