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Deafness, Autosomal Dominant 15

Known as: DFNA15 
National Institutes of Health

Related topics

Related topics

2 relations
Autosomal dominant inheritance

Broader (1)

Sensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss… 
2016
2016
A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
POU4F3 gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in… 
2014
2014
Regulation of the Orphan Nuclear Receptor Nr2f2 by the DFNA15 Deafness Gene Pou4f3
Hair cells are the mechanotransducing cells of the inner ear that are essential for hearing and balance. POU4F3 – a POU-domain… 
2013
2013
SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
Autosomal dominant non-syndromic hearing loss (AD-NSHL) is one of the most common genetic diseases in human and is well-known for… 
2009
2009
Mild and Variable Audiometric and Vestibular Features in a Third DFNA15 Family with a Novel Mutation in POU4F3
Objectives: Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P… 
2009
2009
Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3
Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy… 
Highly Cited
2008
Highly Cited
2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding
In a Dutch pedigree suffering from autosomal dominant nonsyndromic hearing impairment (ADNSHI), linkage was found to the locus… 
2008
2008
Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.
OBJECTIVE To report on the audiometric characteristics of a large Dutch family linked to DFNA15 with a novel mutation (p.L289F… 
Highly Cited
2003
Highly Cited
2003
The DFNA15 Deafness Mutation Affects POU4F3 Protein Stability, Localization, and Transcriptional Activity
ABSTRACT A mutation in the POU4F3 gene (BRN-3.1, BRN3C) is responsible for DFNA15 (MIM 602459), autosomal-dominant nonsyndromic… 
2000
2000
Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.
OBJECTIVES To describe the detailed auditory phenotype of DFNA15, genetic hearing loss associated with a mutation in the POU4F3… 
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