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Article

Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 14 Apr 2021

Trouillet Alix, Miller Katharine K, George Shefin Sam, Wang Pei, Ali Noor-E-Seher, Ricci Anthony, Grillet Nicolas

Abstract excerpt

Sound detection happens in the inner ear via the mechanical deflection of the hair bundle of cochlear hair cells. The hair bundle is an apical specialization consisting of actin-filled membrane protrusions (called stereocilia) connected by tip links (TLs) that transfer the deflection force to gate the mechanotransduction channels. Here, we identified the hearing loss-associated Loxhd1/DFNB77 gene as being...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33707295
DOI: 10.1523/JNEUROSCI.0975-20.2021
PMCID: PMC8051682

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Research trail→

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Loxhd1 Mutations Cause Mechanotransduction Defects in Cochlear Hair Cells.PMID 33707295Read ↗

Harmonin mutations cause mechanotransduction defects in cochlear hair cells.Semantic proximity Read ↗

Tip links in hair cells: molecular composition and role in hearing lossSemantic proximity Read ↗

Linking genes underlying deafness to hair-bundle development and function.Semantic proximity Read ↗

PKHD1L1 is required for stereocilia bundle maintenance, durable hearing function and resilience to noise exposureSemantic proximity Read ↗

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.Semantic proximity Read ↗

The tetraspan LHFPL5 is critical to establish maximal force sensitivity of the mechanotransduction channel of cochlear hair cells.Semantic proximity Read ↗

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.Semantic proximity Read ↗

Molecular Specializations Underlying Phenotypic Differences in Inner Ear Hair Cells of Zebrafish and MiceSemantic proximity Read ↗

Regionalized protein localization domains in the zebrafish hair cell kinociliumSemantic proximity Read ↗

Absence of plastin 1 causes abnormal maintenance of hair cell stereocilia and a moderate form of hearing loss in mice.Semantic proximity Read ↗

Actin in hair cells and hearing loss.Semantic proximity Read ↗

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.Semantic proximity Read ↗

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