Cargando…

Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss

Potassium voltage-gated channel subfamily q member 4 (KCNQ4) is a voltage-gated potassium channel that plays essential roles in maintaining ion homeostasis and regulating hair cell membrane potential. Reduction of the activity of the KCNQ4 channel owing to genetic mutations is responsible for nonsyn...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rim, John Hoon, Choi, Jae Young, Jung, Jinsei, Gee, Heon Yung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7958948/ https://www.ncbi.nlm.nih.gov/pubmed/33801540 http://dx.doi.org/10.3390/ijms22052510

Ejemplares similares

In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model
por: Noh, Byunghwa, et al.
Publicado: (2022)

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
por: Jung, Jinsei, et al.
Publicado: (2018)

Overlooked KCNQ4 variants augment the risk of hearing loss
por: Oh, Kyung Seok, et al.
Publicado: (2023)

Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment
por: Jung, Jinsei, et al.
Publicado: (2019)

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
por: Nam, Gi-Sung, et al.
Publicado: (2019)

Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
por: Jung, Jinsei, et al.
Publicado: (2017)

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
por: Rim, John Hoon, et al.
Publicado: (2019)

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss
por: Lee, Sang-Yeon, et al.
Publicado: (2021)

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants
por: Homma, Kazuaki
Publicado: (2022)

OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
por: Koh, Young Ik, et al.
Publicado: (2022)

Synergistic effect of smoking on age-related hearing loss in patients with diabetes
por: Bae, Seong Hoon, et al.
Publicado: (2020)

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)

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
por: Rim, John Hoon, et al.
Publicado: (2021)

Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
por: Kang, Minjin, et al.
Publicado: (2023)

Effects of Contralateral Routing of Signal Hearing Aids on Audiological and Academic Performance in School-Age Children With Unilateral Hearing Loss
por: Kwak, Sang Hyun, et al.
Publicado: (2021)

Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss
por: Gao, Yanhong, et al.
Publicado: (2013)

Valproic Acid Inhibits Progressive Hereditary Hearing Loss in a KCNQ4 Variant Model through HDAC1 Suppression
por: Nam, Yoon Seok, et al.
Publicado: (2023)

Effect of Specific Retinoic Acid Receptor Agonists on Noise-Induced Hearing Loss
por: Kwak, Sang Hyun, et al.
Publicado: (2019)

Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss
por: Kojima, Takashi, et al.
Publicado: (2021)

Which Patients With a Unilateral Hearing Aid for Symmetric Sensorineural Hearing Loss Have Auditory Deprivation?
por: Lee, Hyun Jin, et al.
Publicado: (2020)

Clinical Features and Hearing Outcomes of Sudden Sensorineural Hearing Loss in Diabetic Patients
por: Ju, Yeo Rim, et al.
Publicado: (2021)

In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss
por: Namba, Kazunori, et al.
Publicado: (2012)

Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing
por: Kim, Min-A, et al.
Publicado: (2019)

Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
por: Kim, Juwon, et al.
Publicado: (2015)

Relationship between Hearing Loss and Dementia Differs According to the Underlying Mechanism
por: Jung, Jinsei, et al.
Publicado: (2021)

Strategies for developing novel therapeutics for sensorineural hearing loss
por: Nakagawa, Takayuki
Publicado: (2014)

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss
por: Wang, Hongyang, et al.
Publicado: (2014)

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation
por: Rim, John Hoon, et al.
Publicado: (2020)

Therapeutic Effects of Carbogen Inhalation and Lipo-Prostaglandin E1 in Sudden Hearing Loss
por: Lee, Hyun-Jin, et al.
Publicado: (2012)

The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion
por: Jung, Jinsei, et al.
Publicado: (2016)

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family
por: Uehara, Daniela T, et al.
Publicado: (2015)

Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
por: Naito, Takehiko, et al.
Publicado: (2013)

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population
por: Yen, Ting-Ting, et al.
Publicado: (2021)

KCNQ2 and KCNQ5 form heteromeric channels independent of KCNQ3
por: Soh, Heun, et al.
Publicado: (2022)

Loss of KCNQ2 or KCNQ3 Leads to Multifocal Time-Varying Activity in the Neonatal Forebrain Ex Vivo
por: Hou, Bowen, et al.
Publicado: (2021)

Association of Nutritional Factors with Hearing Loss
por: Jung, Su Young, et al.
Publicado: (2019)

Developments in Bio-Inspired Nanomaterials for Therapeutic Delivery to Treat Hearing Loss
por: Rathnam, Christopher, et al.
Publicado: (2019)

Polarized Axonal Surface Expression of Neuronal KCNQ Potassium Channels Is Regulated by Calmodulin Interaction with KCNQ2 Subunit
por: Cavaretta, John P., et al.
Publicado: (2014)

Strategy for the Customized Mass Screening of Genetic Sensorineural Hearing Loss in Koreans
por: Chang, Mun Young, et al.
Publicado: (2014)

Clinical Experience of Using Active Transcutaneous Bone Conduction Implants (Bonebridge) in Children Under 5 Years Old
por: Bae, Seong Hoon, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_k2jiqh8iav6ackj97s51uhkdvb