Associated Papers
Redefining the architecture of ferlin proteins: Insights into multi-domain protein structure and function.
Dominguez MJ et al.
Plos One, 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
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
Matsunaga T et al.
Clinical Genetics, 2012
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
Wang J et al.
Plos One, 2011
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
Chiu YH et al.
Audiology & Neuro-otology, 2010
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
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
Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects.
Naseer H et al.
Pakistan Journal of Medical Sciences, 0
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