Gene doping and genomic science in sports: where are we?

S López, J Meirelles, V Rayol, G Poralla, N Woldmar… - Bioanalysis, 2020 - Taylor & Francis
The misuse of sport-related gene transfer methods in elite athletes is a real and growing
concern. The success of gene therapy in the treatment of hereditary diseases has been most …

[HTML][HTML] Genotype-phenotype correlation for predicting cochlear implant outcome: Current challenges and opportunities

AA Eshraghi, SP Polineni, C Davies, D Shahal… - Frontiers in …, 2020 - frontiersin.org
The use and utility of cochlear implantation has rapidly increased in recent years as
technological advances in the field have expanded both the efficacy and eligible patient …

[HTML][HTML] AAV-ie-K558R mediated cochlear gene therapy and hair cell regeneration

Y Tao, X Liu, L Yang, C Chu, F Tan, Z Yu, J Ke… - … and Targeted Therapy, 2022 - nature.com
The cochlea consists of multiple types of cells, including hair cells, supporting cells and
spiral ganglion neurons, and is responsible for converting mechanical forces into electric …

[HTML][HTML] Assessment of drug permeability through an ex vivo porcine round window membrane model

A Moatti, D Silkstone, T Martin, K Abbey, KA Hutson… - Iscience, 2023 - cell.com
Delivery of pharmaceutical therapeutics to the inner ear to treat and prevent hearing loss is
challenging. Systemic delivery is not effective as only a small fraction of the therapeutic …

[HTML][HTML] Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model

G Lahlou, C Calvet, F Simon, V Michel, L Alciato… - JCI insight, 2024 - ncbi.nlm.nih.gov
Neonatal gene therapy has been shown to prevent inner ear dysfunction in mouse models
of Usher syndrome type I (USH1), the most common genetic cause of combined deafness …

[HTML][HTML] Genetic correction of induced pluripotent stem cells from a DFNA36 patient results in morphologic and functional recovery of derived hair cell-like cells

Y Luo, K Wu, X Zhang, H Wang, Q Wang - Stem Cell Research & Therapy, 2024 - Springer
Background TMC1 is one of the most common deafness genes causing DFNA36. Patient-
derived human induced pluripotent stem cells (iPSCs) provide an opportunity to modelling …

[HTML][HTML] A single cisterna magna injection of AAV leads to binaural transduction in mice

F Blanc, AP Bemelmans, C Affortit… - Frontiers in Cell and …, 2022 - frontiersin.org
Viral-mediated gene augmentation, silencing, or editing offers tremendous promise for the
treatment of inherited and acquired deafness. Inner-ear gene therapies often require a safe …

[HTML][HTML] Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?

D Brotto, M Greggio, C De Filippis, P Trevisi - Audiology Research, 2024 - mdpi.com
The etiology of sensorineural hearing loss is heavily influenced by genetic mutations, with
approximately 80% of cases attributed to genetic causes and only 20% to environmental …

OTOF 基因突变听神经病的治疗进展.

韩磊, 汤洪海, 王大奇, 高子雯… - Chinese Journal of …, 2023 - search.ebscohost.com
OTOF 基因突变是导致听神经病的主要因素之一, 也是隐性遗传性耳聋的常见致病基因. OTOF
基因编码的耳畸蛋白(otoferlin) 参与Ca2+ 相关内毛细胞突触囊泡的融合及神经递质的释放 …

[HTML][HTML] Molecular screening strategy to identify a non-invasive delivery mechanism for the treatment of middle ear disorders

A Kurabi, M Cooper, M Spriggs, Y Xu… - Frontiers in …, 2020 - frontiersin.org
Middle ear ailments include a broad range of pathological conditions. Otitis media is the
leading middle ear disease of childhood, which incurs significant health care resources in …