Associated Papers
Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing.
Chen H et al.
Science Advances, 2025
Cochlear gene therapy restores hearing and auditory processing in an atypical DFNB9 mouse model.
Benamer N et al.
Communications Medicine, 2025
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Genetic and pharmacologic alterations of claudin9 levels suffice to induce functional and mature inner hair cells.
Chen Y et al.
Biorxiv : the Preprint Server for Biology, 2024
The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.
Ford CL et al.
Human Genetics, 2023
Cochlear transcript diversity and its role in auditory functions implied by an otoferlin short isoform.
Liu H et al.
Nature Communications, 2023
Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.
Forli F et al.
Medicina (kaunas, Lithuania), 2023
Otoferlin as a multirole Ca2+ signaling protein: from inner ear synapses to cancer pathways.
Leclère JC et al.
Frontiers in Cellular Neuroscience, 2023
Probing the role of the C2F domain of otoferlin.
Chen H et al.
Frontiers in Molecular Neuroscience, 2023
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa YI et al.
Human Genetics, 2022
Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.
Ray M et al.
Bioscience Reports, 2021
Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.
Renauld JM et al.
Current Protocols, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice.
Al-Moyed H et al.
Embo Molecular Medicine, 2019
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
Kim BJ et al.
Journal of Translational Medicine, 2018
Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness.
Wang Y et al.
Acta Oto-laryngologica, 2018
A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.
Tabatabaiefar MA et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2018
Disruption of Otoferlin Alters the Mode of Exocytosis at the Mouse Inner Hair Cell Ribbon Synapse.
Takago H et al.
Frontiers in Molecular Neuroscience, 2018
Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants.
Strenzke N et al.
The Embo Journal, 2016
Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.
Santarelli R et al.
Hearing Research, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
Matsunaga T et al.
Clinical Genetics, 2012
The genetic basis of auditory neuropathy spectrum disorder (ANSD).
Manchaiah VK et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.
Wang DY et al.
Bmc Medical Genetics, 2010
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
Marlin S et al.
Biochemical and Biophysical Research Communications, 2010
[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy].
Liu Q et al.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2010
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
Chiu YH et al.
Audiology & Neuro-otology, 2010
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.
Heidrych P et al.
Human Molecular Genetics, 2009
Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
Ramakrishnan NA et al.
The Journal of Biological Chemistry, 2009
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M et al.
Human Mutation, 2008
In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains.
Jiménez JL et al.
Journal of the Neurological Sciences, 2007
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
Varga R et al.
Journal of Medical Genetics, 2006
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
Tekin M et al.
American Journal of Medical Genetics. Part A, 2005
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
Rodríguez-Ballesteros M et al.
Human Mutation, 2003