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The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
TMPRSS3 -related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous...
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PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Identification of genes associated with nonsyndromic hearing loss is a crucial endeavor given the substantial number of individuals who remain...
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Deletion of Luzp2 Does Not Cause Hearing Loss in Mice
Deafness is the prevailing sensory impairment among humans, impacting every aspect of one's existence. Half of congenital deafness cases are...
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Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss
Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss...
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Hearing and Dementia: Is There a Connection?
We present a review of Russian and foreign literature on current views of connections between hearing loss and dementia. Hearing loss is one of a few...
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Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma
Chemoradiation-induced hearing loss (CRIHL) is one of the most devasting side effects for nasopharyngeal carcinoma (NPC) patients, which seriously...
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A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family
Knockout of GAS2 (growth arrest-specific protein 2), causes disorganization and destabilization of microtubule bundles in supporting cells of the...
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Approaches to Mitigate Mitochondrial Dysfunction in Sensorineural Hearing Loss
Mitochondria are highly dynamic multifaceted organelles with various functions including cellular energy metabolism, reactive oxygen species (ROS)...
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Discrimination of Rippled Spectra by Listeners with Impaired Hearing in Two Experimental Schemes
Studies in listeners aged 30–82 years measured the frequency resolution power(FRP) of hearing as the maximum density (cycle/oct) of spectrum ripples...
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Hearing loss and the COVID-19 pandemic
ObjectiveHearing loss is an important public health problem. Its causes vary, including infections, noise, and aging. The first wave of the COVID-19...
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Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population
BackgroundPrevious studies have implicated inherited mutations in mitochondrial DNA (mtDNA) in sensorineural hearing loss (SNHL). However, the...
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An off-the-shelf otoacoustic-emission probe for hearing screening via a smartphone
Otoacoustic emissions (OAEs) provide information about the function of the outer hair cells of the cochlea. In high-income countries, infants undergo...
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The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation
Genetic testing is one of the most high-yield diagnostic tests in the evaluation of pediatric sensorineural (SNHL) hearing loss, leading to a genetic...
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Susceptibility of Harbor Porpoise Hearing to Intermittent Sound Exposures
The effects of intermittent sound exposures on the hearing of marine mammals are not well understood. This chapter explores a model to predict growth...
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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Biallelic pathogenic variants in MAP3K20 , which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM),...
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Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
BackgroundHereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with...
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MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population
BackgroundMutations in MPZL2 , the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and...
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Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
Hearing loss (HL) is a heterogenous trait with pathogenic variants in more than 200 genes that have been discovered in studies involving small and...
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Sex differences in hearing impairment due to diet-induced obesity in CBA/Ca mice
BackgroundObesity is an independent risk factor for hearing loss. Although attention has focused on major obesity comorbidities such as...
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Underwater Hearing and Noise Exposure Concerns in Humans
Human divers can be exposed to high-energy underwater noise sources as part of their jobs. Establishing safety guidance for noise exposure is...