Autosomal dominant non-syndromic hearing loss (DFNA): a comprehensive narrative review

M Aldè, G Cantarella, D Zanetti, L Pignataro… - Biomedicines, 2023 - mdpi.com
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …

[HTML][HTML] Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

B Vona, I Nanda, MAH Hofrichter… - Molecular and cellular …, 2015 - Elsevier
From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …

[HTML][HTML] Defects in the alternative splicing-dependent regulation of REST cause deafness

Y Nakano, MC Kelly, AU Rehman, ET Boger, RJ Morell… - Cell, 2018 - cell.com
The DNA-binding protein REST forms complexes with histone deacetylases (HDACs) to
repress neuronal genes in non-neuronal cells. In differentiating neurons, REST is …

[HTML][HTML] Genetic hearing loss and gene therapy

NT Carpena, MY Lee - Genomics & informatics, 2018 - ncbi.nlm.nih.gov
Genetic hearing loss crosses almost all the categories of hearing loss which includes the
following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital …

Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases

L Verrillo, R Di Palma, A de Bellis, D Drongitis… - Biomolecules, 2023 - mdpi.com
Neuroplasticity is a crucial property of the central nervous system to change its activity in
response to intrinsic or extrinsic stimuli. This is mainly achieved through the promotion of …

Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank

HRR Wells, FNZ Abidin, MB Freidin, FMK Williams… - Scientific reports, 2021 - nature.com
Tinnitus is a prevalent condition in which perception of sound occurs without an external
stimulus. It is often associated with pre-existing hearing loss or noise-induced damage to the …

Gene therapy in mouse models of deafness and balance dysfunction

L Wang, JB Kempton, JV Brigande - Frontiers in molecular …, 2018 - frontiersin.org
Therapeutic strategies to restore hearing and balance in mouse models of inner ear disease
aim to rescue sensory function by gene replacement, augmentation, knock down or knock …

[HTML][HTML] Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction

ML Hastings, JV Brigande - Hearing research, 2020 - Elsevier
Disabling hearing loss is expected to affect over 900 million people worldwide by 2050. The
World Health Organization estimates that the annual economic impact of hearing loss …

Genetics of postlingual sensorineural hearing loss

S Ahmadmehrabi, J Brant, DJ Epstein… - The …, 2021 - Wiley Online Library
Literature and clinical practice around adult‐onset hearing loss (HL) has traditionally
focused on environmental risk factors, including noise exposure, ototoxic drug exposure …

Pathogenic REST variant causing Jones syndrome and a review of the literature

E Rahikkala, J Julku, S Koskinen… - European Journal of …, 2023 - nature.com
Jones syndrome is a rare dominantly inherited syndrome characterized by gingival
fibromatosis and progressive sensorineural hearing loss becoming symptomatic in the …