Article

<i>Atp6v1b2</i> Plays Important Roles in the Early Development of Hearing, the Pectoral Fin, the Cardiovascular System, and the Swim Bladder of the Zebrafish, Supporting a Role for the Gene in Syndromic Hearing Loss

2015-08-10

Abstract excerpt

<h4>Background</h4> The ATP6V1B2 gene plays a critical role in the auditory system, and a mutation in this gene is one genetic cause of DDOD syndrome (Dominant deafness-onychodystrophy syndrome, MIM 124480) and ZLS (Zimmermann-Laband syndrome, MIM 135500). However, whether and how ATP6V1B2 is involved in the development of other organs remains unknown. In the present study, we explored the effect of atp6v1b2 k...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2e01bddc-6c20-586d-aa00-66f2c0e2c684
DOI: 10.1101/024240

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>Atp6v1b2</i> Plays Important Roles in the Early Development of Hearing, the Pectoral Fin, the Cardiovascular System, and the Swim Bladder of the Zebrafish, Supporting a Role for the Gene in Syndromic Hearing LossDOI 10.1101/024240Read

A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disabilitySemantic proximity Read

Treatment of monogenic and digenic dominant genetic hearing loss by CRISPR-Cas9 ribonucleoprotein delivery in vivoSemantic proximity Read

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.Semantic proximity Read

Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton FluxSemantic proximity Read

Syndromic deafness gene ATP6V1B2 controls degeneration of spiral ganglion neurons through modulating proton fluxSemantic proximity Read

Management and treatment of Andersen-Tawil syndrome (ATS).Semantic proximity Read

The role of ATP-binding Cassette subfamily B member 6 in the inner ear.Semantic proximity Read

The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in miceSemantic proximity Read

A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish.Semantic proximity Read

L-type voltage-gated calcium channel agonists improve hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher Syndrome Type 1Semantic proximity Read

Congenital heart defects caused by FOXJ1Semantic proximity Read

Zebrafish in-vivo study reveals deleterious activity of human TBC1D24 genetic variants linked with autosomal dominant hearing loss.Semantic proximity Read