Associated Papers
Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing.
Chen H et al.
Science Advances, 2025
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
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
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
A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.
Al-Wardy NM et al.
Saudi Medical Journal, 2016
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