Deafness: from genetic architecture to gene therapy
Progress in deciphering the genetic architecture of human sensorineural hearing
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …
Myosin motors in sensory hair bundle assembly
ZG Moreland, JE Bird - Current opinion in cell biology, 2022 - Elsevier
Mechanosensory hair bundles are assembled from actin-based stereocilia that project from
the apical surface of hair cells in the inner ear. Stereocilia architecture is critical for the …
the apical surface of hair cells in the inner ear. Stereocilia architecture is critical for the …
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients
Etiological studies have shown genetic disorders to be a major cause of sensorineural
hearing loss, but there are a limited number of comprehensive etiological reports based on …
hearing loss, but there are a limited number of comprehensive etiological reports based on …
Association of genetic diagnoses for childhood-onset hearing loss with cochlear implant outcomes
RJ Carlson, T Walsh, JB Mandell… - … –Head & Neck …, 2023 - jamanetwork.com
Importance In the US, most childhood-onset bilateral sensorineural hearing loss is genetic,
with more than 120 genes and thousands of different alleles known. Primary treatments are …
with more than 120 genes and thousands of different alleles known. Primary treatments are …
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management
SK Baxter, T Walsh, S Casadei, MM Eckert… - Journal of Allergy and …, 2022 - Elsevier
Background Most patients with childhood-onset immune dysregulation, polyendocrinopathy,
and enteropathy have no genetic diagnosis for their illness. These patients may undergo …
and enteropathy have no genetic diagnosis for their illness. These patients may undergo …
The actin cytoskeleton in hair bundle development and hearing loss
Inner ear hair cells assemble mechanosensitive hair bundles on their apical surface that
transduce sounds and accelerations. Each hair bundle is comprised of∼ 100 individual …
transduce sounds and accelerations. Each hair bundle is comprised of∼ 100 individual …
Exome sequencing expands the genetic diagnostic spectrum for pediatric hearing loss
J Perry, S Redfield, A Oza, S Rouse… - The …, 2023 - Wiley Online Library
Objectives Genetic testing is the standard‐of‐care for diagnostic evaluation of bilateral,
symmetric, sensorineural hearing loss (HL). We sought to determine the efficacy of a …
symmetric, sensorineural hearing loss (HL). We sought to determine the efficacy of a …
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance
K Nesic, JJ Krais, Y Wang, CJ Vandenberg, P Patel… - Molecular cancer, 2024 - Springer
PARP inhibitor (PARPi) therapy has transformed outcomes for patients with homologous
recombination DNA repair (HRR) deficient ovarian cancers, for example those with BRCA1 …
recombination DNA repair (HRR) deficient ovarian cancers, for example those with BRCA1 …
Communication, inclusion and psychological wellbeing among deaf and hard of hearing children: A qualitative study in the Gaza Strip
N Scherer, T Smythe, R Hussein… - PLOS Global Public …, 2023 - journals.plos.org
Deaf and hard of hearing children are at risk of exclusion from community life and education,
which may increase their risk of mental health conditions. This study explores the …
which may increase their risk of mental health conditions. This study explores the …
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
J Wu, Z Cao, Y Su, Y Wang, R Cai, J Chen… - Journal of Human …, 2022 - nature.com
Hereditary hearing loss is genetically heterogeneous, with diverse clinical manifestations.
Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 …
Here we performed targeted genome sequencing of 227 hearing loss related genes in 1027 …