Associated Papers
Identification of alternative splicing in WFS1 associated with low-frequency hearing loss in the common marmoset.
Yokota S et al.
Hgg Advances, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Yu S et al.
Molecular Genetics and Genomics : Mgg, 2024
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS et al.
Audiology & Neuro-otology, 2023
A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss.
Ma J et al.
Biomed Research International, 2022
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J et al.
Biomed Research International, 2021
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
Kobayashi M et al.
Plos One, 2018
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
Bai X et al.
American Journal of Medical Genetics. Part A, 2014
Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies.
Fujikawa T et al.
The Laryngoscope, 2010
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2008
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
Fukuoka H et al.
Journal of Human Genetics, 2007
Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment.
Tóth T et al.
International Journal of Pediatric Otorhinolaryngology, 2006
A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.
Noguchi Y et al.
Acta Oto-laryngologica, 2005
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.
Kunz J et al.
Mutation Research, 2003
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Cryns K et al.
Human Genetics, 2002
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.
Komatsu K et al.
Journal of Human Genetics, 2002
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
Bespalova IN et al.
Human Molecular Genetics, 2001