| A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred. | A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.
Ahmed A, Wang M, Khan R, Shah AA, Guo H, Malik S, Xia K, Hu Z., Free PMC Article | 07/26/2024 |
| [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy]. | [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy].
Wu KL, Li J, Wang HY, Wang QJ. | 06/6/2024 |
| Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder. | Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.
Dmitriev DA, Shilov BV, Polunin MM, Zadorozhny AD, Lagunin AA., Free PMC Article | 01/12/2024 |
| Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. | Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M, Mahfood M, Al Mutery A, Tlili A., Free PMC Article | 05/17/2023 |
| Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder. | Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder.
Mohammadi S, Khamirani HJ, Zoghi S, Dastgheib SA, Bagher Tabei SM, Talebzadeh M, Adibi MH, Dianatpour M. | 03/30/2023 |
| Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin. | Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin.
Tang H, Wang H, Wang S, Hu SW, Lv J, Xun M, Gao K, Wang F, Chen Y, Wang D, Wang W, Li H, Shu Y. | 02/14/2023 |
| Membrane Protein OTOF Is a Type I Interferon-Induced Entry Inhibitor of HIV-1 in Macrophages. | Membrane Protein OTOF Is a Type I Interferon-Induced Entry Inhibitor of HIV-1 in Macrophages.
Ding H, Zhang X, Zhu Z, Wang S, Xiong Y, Shang H, Liang G., Free PMC Article | 09/10/2022 |
| Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. | Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, Suematsu M, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, Kumakawa K, Yoshida T, Esaki T, Usami SI., Free PMC Article | 07/30/2022 |
| Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception. | Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.
Santarelli R, Scimemi P, Costantini M, Domínguez-Ruiz M, Rodríguez-Ballesteros M, Del Castillo I., Free PMC Article | 04/30/2022 |
| The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. | The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH, Schatz KS, Bodurtha J, Robin NH, Hirsch Y, Rahbeeni ZA, Yuan H, Smith RJH., Free PMC Article | 04/30/2022 |
| The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment. | The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B, Rad A, Reisinger E., Free PMC Article | 09/25/2021 |
| [OTOF-related auditory neuropathy spectrum disorder].", trans "Zabolevanie spektra auditornykh neiropatii, obuslovlennoe mutatsiyami v gene otoferlina (OTOF). | [OTOF-related auditory neuropathy spectrum disorder].
Lalayants MR, Mironovich OL, Bliznets EA, Markova TG, Polyakov AV, Tavartkiladze GA. | 09/12/2020 |
| Novel compound heterozygous OTOF mutations were present in two Chinese auditory neuropathy spectrum disorder patients. | Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families.
Qiu Y, Chen S, Xie L, Xu K, Lin Y, Bai X, Zhang HM, Liu XZ, Jin Y, Sun Y, Kong WJ., Free PMC Article | 08/1/2020 |
| Two affected siblings from a consanguineous Chinese Dai family with non-syndromic hearing loss harbored an c.1274G>C, p.Arg425Pro missense variant in the OTOF. | Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
Bai X, Nian S, Feng L, Ruan Q, Luo X, Wu M, Yan Z., Free PMC Article | 07/4/2020 |
| The otoferlin enhances cancer cell proliferation, migration and metabolism by affecting various aspects of membrane biology. | Ferlin Overview: From Membrane to Cancer Biology.
Peulen O, Rademaker G, Anania S, Turtoi A, Bellahcène A, Castronovo V., Free PMC Article | 05/23/2020 |
| This publication deals with otoferlin (FER-1), which is similar to FER1L4, in both C. elegans and humans. | A nematode gene required for sperm vesicle fusion.
Achanzar WE, Ward S. | 05/14/2020 |
| This publication deals with the otoferlin, which is related in sequence to FER1L4. | A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. | 05/14/2020 |
| single delivery of the vector pair into the mature cochlea of Otof (-/-) mutant mice reconstituted the otoferlin cDNA coding sequence through recombination of the 5' and 3' cDNAs, leading to the durable restoration of otoferlin expression in transduced cells and a reversal of the deafness phenotype, raising hopes for future gene therapy trials in DFNB9 patients | Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model.
Akil O, Dyka F, Calvet C, Emptoz A, Lahlou G, Nouaille S, Boutet de Monvel J, Hardelin JP, Hauswirth WW, Avan P, Petit C, Safieddine S, Lustig LR., Free PMC Article | 04/11/2020 |
| OTOF mutation analysis in sensorineural hearing loss patients | OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Iwasa YI, Nishio SY, Sugaya A, Kataoka Y, Kanda Y, Taniguchi M, Nagai K, Naito Y, Ikezono T, Horie R, Sakurai Y, Matsuoka R, Takeda H, Abe S, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Ito T, Arai Y, Usami SI., Free PMC Article | 01/18/2020 |
| Results show that the FerA domain is a novel four-helix bundle fold with its own Ca(2+)-dependent phospholipid-binding activity which interaction with the membrane is enhanced by the presence of Ca(2+). | FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins.
Harsini FM, Chebrolu S, Fuson KL, White MA, Rice AM, Sutton RB., Free PMC Article | 10/19/2019 |
| This study included the largest Korean OTOF-related auditory neuropathy spectrum disorder cohort to date and proposed a set of the most frequent four OTOF variants, allowing the potential prioritization of exons during Sanger sequencing. | Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
Kim BJ, Jang JH, Han JH, Park HR, Oh DY, Lee S, Kim MY, Kim AR, Lee C, Kim NKD, Park WY, Choung YH, Choi BY., Free PMC Article | 06/22/2019 |
| Three novel OTOF mutations (NM_001287489) [c.1550T > C (p.L517P), c.5900_5902delTCA (p.I1967del), and c.4669_4677delCTGACGGTG (p.L1557-V1559del)] were found to be the cause of hearing loss in five patients. | Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness.
Wang Y, Lu Y, Cheng J, Zhang L, Han D, Yuan H. | 06/8/2019 |
| two mutations-c.5098G > C (p.Glu1700Gln) and c.1702C > T (p.Arg568Trp)-in the OTOF gene were found to be correlated with ANSD. | Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder.
Chen K, Liu M, Wu X, Zong L, Jiang H. | 12/22/2018 |
| ConclusionOur findings implicate OTOF as a potential major contributor to hearing loss in the Saudi population, while highlighting the low contribution of GJB2, thus offering important considerations for clinical testing strategies for Saudi patients. | Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
Almontashiri NAM, Alswaid A, Oza A, Al-Mazrou KA, Elrehim O, Tayoun AA, Rehm HL, Amr SS., Free PMC Article | 09/29/2018 |
| This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai. Recessive mutations were observed in at least three genes causing hearing loss: OTOF (p.R708X), SLC26A4 (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai. | Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.
Pandey N, Rashid T, Jalvi R, Sharma M, Rangasayee R, Andrabi KI, Anand A., Free PMC Article | 09/15/2018 |