Cargando…

The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review

Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital, nonsyndromic hearing loss and are the leading cause of auditory neuropathy spectrum disorders. The natural history of otoferl...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ford, Charles L., Riggs, William J., Quigley, Tera, Keifer, Orion P., Whitton, Jonathon P., Valayannopoulos, Vassili
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511631/ https://www.ncbi.nlm.nih.gov/pubmed/37679651 http://dx.doi.org/10.1007/s00439-023-02595-5

Ejemplares similares

Split otoferlins reunited
por: Holt, Jeffrey R, et al.
Publicado: (2018)

Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects
por: Naseer, Hammael, et al.
Publicado: (2023)

Identification of the Hair Cell Soma-1 Antigen, HCS-1, as Otoferlin
por: Goodyear, Richard J., et al.
Publicado: (2010)

Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion
por: Johnson, Colin P., et al.
Publicado: (2010)

A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy
por: Al-Wardy, Nadia M., et al.
Publicado: (2016)

Truncation of the otoferlin transmembrane domain alters the development of hair cells and reduces membrane docking
por: Manchanda, Aayushi, et al.
Publicado: (2021)

Otoferlin Depletion Results in Abnormal Synaptic Ribbons and Altered Intracellular Calcium Levels in Zebrafish
por: Manchanda, Aayushi, et al.
Publicado: (2019)

Disruption of Otoferlin Alters the Mode of Exocytosis at the Mouse Inner Hair Cell Ribbon Synapse
por: Takago, Hideki, et al.
Publicado: (2019)

Cochlear transcript diversity and its role in auditory functions implied by an otoferlin short isoform
por: Liu, Huihui, et al.
Publicado: (2023)

Otoferlin gene editing in sheep via CRISPR-assisted ssODN-mediated Homology Directed Repair
por: Menchaca, A., et al.
Publicado: (2020)

Overloaded Adeno-Associated Virus as a Novel Gene Therapeutic Tool for Otoferlin-Related Deafness
por: Rankovic, Vladan, et al.
Publicado: (2021)

Ultrastructural maturation of the endbulb of Held active zones comparing wild-type and otoferlin-deficient mice
por: Hintze, Anika, et al.
Publicado: (2021)

A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells
por: Vincent, Philippe FY, et al.
Publicado: (2015)

Otoferlin as a multirole Ca(2+) signaling protein: from inner ear synapses to cancer pathways
por: Leclère, Jean-Christophe, et al.
Publicado: (2023)

Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2021)

A dual‐AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock‐out mice
por: Al‐Moyed, Hanan, et al.
Publicado: (2018)

Otoferlin Is Required for Proper Synapse Maturation and for Maintenance of Inner and Outer Hair Cells in Mouse Models for DFNB9
por: Stalmann, Ursula, et al.
Publicado: (2021)

Increased Otoferlin Expression in B Cells Is Associated with Muscle Weakness in Untreated Juvenile Dermatomyositis: A Pilot Study
por: Bukhari, Ameera, et al.
Publicado: (2023)

Activity-Dependent Phosphorylation by CaMKIIδ Alters the Ca(2+) Affinity of the Multi-C(2)-Domain Protein Otoferlin
por: Meese, Sandra, et al.
Publicado: (2017)

DNA sequence analysis and genotype–phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy
por: Tang, Hsiao-Yuan, et al.
Publicado: (2015)

Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2021)

Hearing loss in the elderly: History of occupational noise exposure
por: Meneses-Barriviera, Caroline Luiz, et al.
Publicado: (2013)

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
por: Zhang, Jing, et al.
Publicado: (2019)

Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
por: Fu, Ying, et al.
Publicado: (2022)

Otoferlin acts as a Ca(2+) sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses
por: Michalski, Nicolas, et al.
Publicado: (2017)

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss
por: Zheng, Jing, et al.
Publicado: (2015)

High cervical spinal cord stimulation for occipital neuralgia: a case series and literature review
por: Texakalidis, Pavlos, et al.
Publicado: (2019)

Assessment and Modeling of the Influence of Age, Gender, and Family History of Hearing Problems on the Probability of Suffering Hearing Loss in the Working Population
por: Barrero, Jesús P., et al.
Publicado: (2020)

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
por: Battaglia, Domenica I., et al.
Publicado: (2021)

Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation
por: Lee, Sang-Yeon, et al.
Publicado: (2020)

Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation
por: Guo, Chang, et al.
Publicado: (2020)

Characterization of the Lipid Binding Properties of Otoferlin Reveals Specific Interactions between PI(4,5)P2 and the C2C and C2F Domains
por: Padmanarayana, Murugesh, et al.
Publicado: (2014)

The Effects of Service-Delivery Model and Purchase Price on Hearing-Aid Outcomes in Older Adults: A Randomized Double-Blind Placebo-Controlled Clinical Trial
por: Humes, Larry E., et al.
Publicado: (2017)

Trajectory of hearing loss in children with unilateral hearing loss
por: Fitzpatrick, Elizabeth M., et al.
Publicado: (2023)

A Complication Analysis of 2 Acellular Dermal Matrices in Prosthetic-based Breast Reconstruction
por: Keifer, Orion P., et al.
Publicado: (2016)

Association between hearing loss and frailty: a systematic review and meta-analysis
por: Tian, Rong, et al.
Publicado: (2021)

Hearing Loss due to Infiltration of the Tympanic Membrane by Chronic Lymphocytic Leukemia
por: Cohen, Jonathon B., et al.
Publicado: (2012)

A review of the effects of unilateral hearing loss on spatial hearing
por: Kumpik, Daniel P., et al.
Publicado: (2019)

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
por: Huang, Aiping, et al.
Publicado: (2015)

Hearing loss at work? Hearing loss from leisure activities?
Publicado: (2006)

Cannot write session to /tmp/vufind_sessions/sess_q88h86g51rrt57koc0sqm0na98