Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Nature communications - 18 Nov 2024

Baril Stefanie A, Wilson Katie A, Shaik Md Munan, Fukuda Yu, Umans Robyn A, Barbieri Alessandro, Lynch John, Gose Tomoka, Myasnikov Alexander, Oldham Michael L, Wang Yao, Zhu Jingwen, Fang Jie, Zuo Jian, Kalathur Ravi C, Ford Robert C, Coffin Allison, Taylor Michael R, O'Mara Megan L, Schuetz John D

Abstract excerpt

ABCB6 has been implicated in dyschromatosis universalis hereditaria, a condition characterized by hyperpigmented and hypopigmented skin macules. Dyschromatosis universalis hereditaria can also present with hearing loss. Dyschromatosis universalis hereditaria-associated mutations in ABCB6 have been reported, but the role of this protein in the inner ear has not been studied. Here we determine a high-resolution...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Triphosphate
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cryoelectron Microscopy

Share to Ear, Inner

Share to Mice, Knockout

Share to Molecular Dynamics Simulation

Share to Zebrafish

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 39557842
DOI: 10.1038/s41467-024-53663-x
PMCID: PMC11574312

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The role of ATP-binding Cassette subfamily B member 6 in the inner ear.PMID 39557842Read ↗

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.Semantic proximity Read ↗

Novel ITGB6 Mutations Causing Amelogenesis Imperfecta.Semantic proximity Read ↗

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.Semantic proximity Read ↗

<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 LossSemantic proximity Read ↗

Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt diseaseSemantic proximity Read ↗

Structure and Mechanism of Human ABC TransportersSemantic proximity Read ↗

ABCB6 mutations cause ocular coloboma.Semantic proximity Read ↗

Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients.Semantic proximity Read ↗

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.Semantic proximity Read ↗

Hereditary dehydrated stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panelSemantic proximity Read ↗

The human ATP‐binding cassette (ABC) transporter superfamilySemantic proximity Read ↗

Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.