Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
The Diverse Genetic Landscape of Hearing Impairment in South African Families.
Bharadwaj T et al.
Clinical Genetics, 2025
Good cochlear implantation outcomes in subjects with mono-allelic WFS1-associated sensorineural hearing loss - a case series.
Fehrmann MLA et al.
International Journal of Audiology, 2025
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.
Hull S et al.
Ophthalmic Genetics, 2025
Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.
Cagalinec M et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.
Roberts JP et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndrome.
Lee EJ et al.
The Journal of Clinical Investigation, 2025
The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.
Otsuka S et al.
Genes, 2025
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Yu S et al.
Molecular Genetics and Genomics : Mgg, 2024
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Grzybowska-Adamowicz J et al.
Genes, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
de Muijnck C et al.
Scientific Reports, 2024
The Wolfram-like variant WFS1E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice.
Patergnani S et al.
Autophagy, 2024
A deep phenotyping study in mouse and iPSC models to understand the role of oligodendroglia in optic neuropathy in Wolfram syndrome.
Ahuja K et al.
Acta Neuropathologica Communications, 2024
Multimodal imaging in autosomal dominant Wolfram syndrome and long-term follow-up of laminations of the outer plexiform layer.
Kiraly P et al.
Eye (london, England), 2024
Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.
Caruso V et al.
Genes, 2024
ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome.
Liiv M et al.
Nature Communications, 2024
A Wolfram-like syndrome family: Case report.
Li S et al.
European Journal of Ophthalmology, 2024
Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments.
Morikawa S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2024
Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production.
Richard EM et al.
Cell Death & Disease, 2023
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
Novel WFS1 mutations in patients with low-to-middle frequency hearing loss.
Guo L et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS et al.
Audiology & Neuro-otology, 2023
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
Mair H et al.
Ophthalmic Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Buonfiglio PI et al.
Scientific Reports, 2022
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
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
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
Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family.
Deng H et al.
Acta Diabetologica, 2020
Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.
Batjargal K et al.
Journal of Endocrinological Investigation, 2020
Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
Guan J et al.
Molecular Genetics & Genomic Medicine, 2020
Functional assessment of variants associated with Wolfram syndrome.
Riachi M et al.
Human Molecular Genetics, 2019
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2019
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
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.
Choi HJ et al.
Bmc Medical Genetics, 2017
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.
Kasakura-Kimura N et al.
The Laryngoscope, 2017
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.
Niu Z et al.
International Journal of Pediatric Otorhinolaryngology, 2017