Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Impact of POU3F4 mutation on cochlear development and auditory function.
Dang J et al.
Cell Communication and Signaling : Ccs, 2025
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.
Bernardinelli E et al.
Biomedicines, 2023
Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers.
Jo HD et al.
Biomedicines, 2022
A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery.
Tekin AM et al.
Genes, 2021
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
Mei X et al.
Neural Plasticity, 2021
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
Su Y et al.
Bmc Medical Genetics, 2018
A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.
Du W et al.
Chinese Medical Journal, 2017
Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III.
Choi BY et al.
The Laryngoscope, 2016
A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.
Huang BQ et al.
Journal of Otology, 2015
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.
Moteki H et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.
Choi JW et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015
Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations.
Choi BY et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2013
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation.
Choi BY et al.
Human Mutation, 2013
Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Choi BY et al.
Plos One, 2013