Hearing loss and vestibular schwannoma: new insights into Schwann cells implication

T Mohamed, V Melfi, A Colciago, V Magnaghi - Cell Death & Disease, 2023 - nature.com
Hearing loss (HL) is the most common and heterogeneous disorder of the sensory system,
with a large morbidity in the worldwide population. Among cells of the acoustic nerve (VIII …

Alternative splicing in genetic diseases: improved diagnosis and novel treatment options

AJ Bergsma, E van der Wal, M Broeders… - International review of …, 2018 - Elsevier
Alternative splicing is an important mechanism to regulate gene expression and to expand
the repertoire of gene products in order to accommodate an increase in complexity of …

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

D Yan, D Tekin, G Bademci, J Foster, FB Cengiz… - Human genetics, 2016 - Springer
Hearing loss is the most common sensory deficit in humans with causative variants in over
140 genes. With few exceptions, however, the population-specific distribution for many of the …

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel

J Ma, X Ma, K Lin, R Huang, X Bi, C Ming, L Li, X Li… - Human Genomics, 2023 - Springer
Background At present, the hereditary hearing loss homepage,(https://hereditaryhearingloss
. org/), includes 258 deafness genes and more than 500 genes that have been reported to …

Improving the management of patients with hearing loss by the implementation of an NGS panel in clinical practice

G García-García, A Berzal-Serrano, P García-Díaz… - Genes, 2020 - mdpi.com
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic
hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was …

Genetic predisposition to sporadic congenital hearing loss in a pediatric population

J Jung, JS Lee, KJ Cho, S Yu, JH Yoon, H Yung Gee… - Scientific reports, 2017 - nature.com
Discriminating between inherited and non-inherited sporadic hearing loss is challenging.
Here, we attempted to delineate genetic inheritance in simplex cases of severe-to-profound …

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

S Thongpradit, N Jinawath, A Javed, S Noojarern… - Scientific Reports, 2020 - nature.com
MITF is a known gene underlying autosomal dominant hearing loss, Waardenburg
syndrome (WS). Biallelic MITF mutations have been found associated with a rare hearing …

Precision medicine in hearing loss

JR Rudman, C Mei, SE Bressler, SH Blanton… - Journal of genetics and …, 2018 - Elsevier
Precision medicine (PM) proposes customized medical care based on a patient's unique
genome, biomarkers, environment and behaviors. Hearing loss (HL) is the most common …

Network pharmacology analysis and experimental verification reveal the mechanism of the traditional Chinese medicine YU-Pingfeng San alleviating allergic rhinitis …

Z Liu, Q Sun, X Liu, Z Song, F Song, C Lu… - Frontiers in Plant …, 2022 - frontiersin.org
YU-Pingfeng San (YPFS) can regulate inflammatory response to alleviate the symptoms of
nasal congestion and runny rose in allergic rhinitis (AR). However, the mechanism of action …

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to …

RI Kabahuma, WD Schubert, C Labuschagne, D Yan… - Genes, 2021 - mdpi.com
MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a
phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher …