Cargando…

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

BACKGROUND: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lim, Hui Dong, Lee, So Min, Yun, Ye Jin, Lee, Dae Hee, Lee, Jun Ho, Oh, Seung-Ha, Lee, Sang-Yeon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088283/ https://www.ncbi.nlm.nih.gov/pubmed/37041640 http://dx.doi.org/10.1186/s12920-023-01506-x

Ejemplares similares

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
por: Hogewind, Barend F.T., et al.
Publicado: (2010)

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype
por: Li, Jinying, et al.
Publicado: (2021)

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss
por: Mohammadi-asl, Javad, et al.
Publicado: (2021)

RNA Interference Prevents Autosomal-Dominant Hearing Loss
por: Shibata, Seiji B., et al.
Publicado: (2016)

Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects
por: Lee, Sang-Yeon, et al.
Publicado: (2023)

Functional Outcomes of Cochlear Implantation in Children with Bilateral Cochlear Nerve Aplasia
por: Choe, Goun, et al.
Publicado: (2022)

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness
por: Zhao, Jing, et al.
Publicado: (2022)

Pravastatin Administration Alleviates Kanamycin-Induced Cochlear Injury and Hearing Loss
por: Lee, Chang Ho, et al.
Publicado: (2022)

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
por: Choi, Hye Ji, et al.
Publicado: (2017)

Effects of Residual Hearing on the Auditory Steady State Response for Cochlear Implantation in Children
por: Kim, Young Seok, et al.
Publicado: (2019)

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73
por: Eisenberger, Tobias, et al.
Publicado: (2018)

Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss
por: Kim, Ye-Ri, et al.
Publicado: (2015)

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
por: Yasukawa, Rika, et al.
Publicado: (2019)

Effects of Cochlear Implantation on Binaural Hearing in Adults With Unilateral Hearing Loss
por: Buss, Emily, et al.
Publicado: (2018)

Cochlear implantation: a biomechanical prosthesis for hearing loss
por: Yawn, Robert, et al.
Publicado: (2015)

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings
por: Bramhall, Naomi F, et al.
Publicado: (2008)

Cochlear Proteins Associated with Noise-induced Hearing Loss: An Update
por: Jain, Ruchika K., et al.
Publicado: (2018)

The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss
por: Kwon, Tae-Jun, et al.
Publicado: (2014)

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients
por: Iwasa, Yoh-ichiro, et al.
Publicado: (2016)

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents
por: Gao, Xue, et al.
Publicado: (2017)

Role of cochlear reserve in adults with cochlear implants following post-lingual hearing loss
por: Thangavelu, Kruthika, et al.
Publicado: (2022)

Cochlear implantation in autistic children with profound sensorineural hearing loss()
por: Lachowska, Magdalena, et al.
Publicado: (2016)

Does the Width of the Bony Cochlear Nerve Canal Predict the Outcomes of Cochlear Implantation?
por: Chung, Juyong, et al.
Publicado: (2018)

Efficacy of cochlear implants in children with borderline hearing who have already achieved significant language development with hearing aids
por: Kim, Young Seok, et al.
Publicado: (2022)

Changes in microRNA Expression in the Cochlear Nucleus and Inferior Colliculus after Acute Noise-Induced Hearing Loss
por: Park, Sohyeon, et al.
Publicado: (2020)

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene
por: Oziębło, Dominika, et al.
Publicado: (2019)

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
por: Nishio, Shin-ya, et al.
Publicado: (2021)

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review
por: Aldè, Mirko, et al.
Publicado: (2023)

Computer-based musical interval training program for Cochlear implant users and listeners with no known hearing loss
por: Bissmeyer, Susan Rebekah Subrahmanyam, et al.
Publicado: (2022)

Correlation of cochlear aperture stenosis with cochlear nerve deficiency in congenital unilateral hearing loss and prognostic relevance for cochlear implantation
por: Orzan, Eva, et al.
Publicado: (2021)

Experience with cochlear implants in Greenlanders with profound hearing loss living in Greenland
por: Homøe, Preben, et al.
Publicado: (2013)

Cochlear Implants in Patients with Fluctuant or Progressive Hearing Loss on the Better Ear
por: Mangabeira-Albernaz, Pedro Luiz, et al.
Publicado: (2021)

Language evaluation in children with pre-lingual hearing loss and cochlear implant()()
por: Scarabello, Emille Mayara, et al.
Publicado: (2018)

Quality of life and cochlear implant: results in adults with postlingual hearing loss()
por: Sousa, Aline Faria de, et al.
Publicado: (2017)

Benefits of Cochlear Implantation in Childhood Unilateral Hearing Loss (CUHL Trial)
por: Brown, Kevin D., et al.
Publicado: (2021)

Cochlear implant for profound hearing loss post COVID-19 complications()
por: Almeida, Amanda Sampaio, et al.
Publicado: (2023)

A Predictive Model for Cochlear Implant Outcome in Children with Cochlear Nerve Deficiency
por: Han, Jae Joon, et al.
Publicado: (2019)

Cochlear Implantation in Cases of Asymmetric Hearing Loss: Subjective Benefit, Word Recognition, and Spatial Hearing
por: Dillon, Margaret T., et al.
Publicado: (2020)

Possible Existence of Cochlear Synaptopathy in Patients Completely Recovered from Idiopathic Sudden Sensorineural Hearing Loss
por: Seo, Hee Won, et al.
Publicado: (2022)

Hearing loss in inner ear and systemic autoimmune disease: A systematic review of post‐cochlear implantation outcomes
por: Lee, Jonathan, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_9afrm156vnscdjcdi6hjlu22k3