Congenital deafness and recent advances towards restoring hearing loss
JM Renauld, ML Basch - Current protocols, 2021 - Wiley Online Library
Congenital hearing loss is the most common birth defect, estimated to affect 2‐3 in every
1000 births. Currently there is no cure for hearing loss. Treatment options are limited to …
1000 births. Currently there is no cure for hearing loss. Treatment options are limited to …
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
YI Koh, KS Oh, JA Kim, B Noh, HJ Choi, SY Joo… - Autophagy, 2022 - Taylor & Francis
Intracellular accumulation of mutant proteins causes proteinopathies, which lack targeted
therapies. Autosomal dominant hearing loss (DFNA67) is caused by frameshift mutations in …
therapies. Autosomal dominant hearing loss (DFNA67) is caused by frameshift mutations in …
CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model
CY Huang, YH Tsai, YF Cheng, PY Wu, YC Chuang… - Gene Therapy, 2024 - nature.com
SLC26A4 encodes pendrin, a crucial anion exchanger essential for maintaining hearing
function. Mutations in SLC26A4, including the prevalent c. 919-2 A> G splice-site mutation …
function. Mutations in SLC26A4, including the prevalent c. 919-2 A> G splice-site mutation …
A human-specific cytotoxic neopeptide generated by the deafness gene Cingulin
Y Huang, L Zhang, Y Sun, Q Liu, J Chen, X Qian… - Journal of Genetics and …, 2024 - Elsevier
Accumulation of mutant proteins in cells can induce proteinopathies and cause functional
damage to organs. Recently, the Cingulin (CGN) protein has been shown to maintain the …
damage to organs. Recently, the Cingulin (CGN) protein has been shown to maintain the …
Effect of Cochlear Implantation on Hearing Fluctuation in Patients with Biallelic SLC26A4 Variants
G Na, JM Lee, HJ Lee, Y Jeong, J Jung… - Audiology and …, 2021 - karger.com
Introduction: Fluctuating hearing loss is a distinctive feature caused by SLC26A4 variants.
We investigated whether cochlear implantation had protective or deleterious effect on …
We investigated whether cochlear implantation had protective or deleterious effect on …
Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model
CJ Hu, YC Lu, TH Yang, YH Chan, CY Tsai… - International Journal of …, 2021 - mdpi.com
Recessive variants of the SLC26A4 gene are globally a common cause of hearing
impairment. In the past, cell lines and transgenic mice were widely used to investigate the …
impairment. In the past, cell lines and transgenic mice were widely used to investigate the …
Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene
CJ Hu, YC Lu, CY Tsai, YH Chan, PH Lin, YS Lee… - Scientific reports, 2021 - nature.com
Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing
impairment. Several transgenic mice with different Slc26a4 variants have been generated …
impairment. Several transgenic mice with different Slc26a4 variants have been generated …
Interpreting pendred syndrome as a foetal hydrops: Clinical and animal model evidence
F Simon, F Denoyelle… - Journal of Vestibular …, 2021 - content.iospress.com
BACKGROUND: Menière disease (MD) and SLC26A4 related deafness (Pendred syndrome
(PS) or DFNB4) are two different inner ear disorders which present with fluctuating and …
(PS) or DFNB4) are two different inner ear disorders which present with fluctuating and …