Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Singh S et al.
European Journal of Human Genetics : Ejhg, 2023
Aldh inhibitor restores auditory function in a mouse model of human deafness.
Zhu GJ et al.
Plos Genetics, 2020
Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.
Bai X et al.
Journal of Cellular and Molecular Medicine, 2020
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Cui TY et al.
Neural Plasticity, 2020
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
Gao X et al.
Biomed Research International, 2018
A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.
Lin YH et al.
Scientific Reports, 2017
Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.
Cai XZ et al.
Journal of Human Genetics, 2017
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C et al.
European Journal of Human Genetics : Ejhg, 2017
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
Kitano T et al.
Plos One, 2017
A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.
Zhang C et al.
Neural Plasticity, 2016
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.
Freitas ÉL et al.
European Journal of Medical Genetics, 2014
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
Kim HJ et al.
Plos One, 2013
A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss.
Lee HK et al.
Biochemical and Biophysical Research Communications, 2010
Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.
de Heer AM et al.
The Annals of Otology, Rhinology, and Laryngology, 2009
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.
Collin RW et al.
Human Mutation, 2008