A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options
N Sharma, D Kumari, I Panigrahi… - Clinical Genetics, 2023 - Wiley Online Library
Hearing impairment is one of the most widespread inheritable sensory disorder affecting at
least 1 in every 1000 born. About two‐third of hereditary hearing loss (HHL) disorders are …
least 1 in every 1000 born. About two‐third of hereditary hearing loss (HHL) disorders are …
Genetic etiology of hereditary hearing loss in the Gulf cooperation council countries
The past 30 years have seen an exponential growth concerning the identification of genes
and variants responsible for hereditary hearing loss (HL) worldwide. This has led to a huge …
and variants responsible for hereditary hearing loss (HL) worldwide. This has led to a huge …
NADH improves AIF dimerization and inhibits apoptosis in iPSCs-derived neurons from patients with auditory neuropathy spectrum disorder
Y Qiu, H Wang, H Pan, X Ding, J Guan, Q Zhuang… - Hearing Research, 2024 - Elsevier
Auditory neuropathy spectrum disorder (ANSD) is a hearing impairment involving
disruptions to inner hair cells (IHCs), ribbon synapses, spiral ganglion neurons (SGNs) …
disruptions to inner hair cells (IHCs), ribbon synapses, spiral ganglion neurons (SGNs) …
AIFM1 variants associated with auditory neuropathy spectrum disorder cause apoptosis due to impaired apoptosis-inducing factor dimerization
Y Qiu, H Wang, H Pan, J Guan, L Yan, M Fan… - Journal of Zhejiang …, 2023 - Springer
Auditory neuropathy spectrum disorder (ANSD) represents a variety of sensorineural
deafness conditions characterized by abnormal inner hair cells and/or auditory nerve …
deafness conditions characterized by abnormal inner hair cells and/or auditory nerve …
Genetic epidemiology of hearing loss in the 22 Arab countries: a systematic review
Background: Hearing loss (HL) is a heterogeneous condition that causes partial or complete
hearing impairment. Hundreds of variants in more than 60 genes have been reported to be …
hearing impairment. Hundreds of variants in more than 60 genes have been reported to be …
Genetic basis of hearing loss in Spanish, Hispanic and Latino populations
R Mittal, AP Patel, D Nguyen, DR Pan, VM Jhaveri… - Gene, 2018 - Elsevier
Hearing loss (HL) is the most common neurosensory disorder affecting humans. The
screening, prevention and treatment of HL require a better understanding of the underlying …
screening, prevention and treatment of HL require a better understanding of the underlying …
Cochlear proteins associated with noise-induced hearing loss: An update
RK Jain, SK Pingle, RG Tumane… - Indian journal of …, 2018 - journals.lww.com
Noise-induced hearing loss (NIHL) is one of the major occupational disease that has
influence on the quality of life of mining workers. Several reports suggest NIHL is attributed …
influence on the quality of life of mining workers. Several reports suggest NIHL is attributed …
In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss
MN Al-Kindi, MJ Al-Khabouri, KA Al-Lamki… - Journal of Genetic …, 2020 - Elsevier
Background Hereditary hearing loss is a heterogeneous group of complex disorders with an
overall incidence of one in every 500 newborns presented as syndromic and non-syndromic …
overall incidence of one in every 500 newborns presented as syndromic and non-syndromic …
Cochlear synaptopathy due to mutations in OTOF gene may result in stable mild hearing loss and severe impairment of speech perception
Objectives: Congenital profound hearing loss with preserved cochlear outer hair cell activity
(otoacoustic emissions and cochlear microphonic) is the most common phenotype …
(otoacoustic emissions and cochlear microphonic) is the most common phenotype …
A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss
MA Tabatabaiefar, MR Pourreza… - … –Head and Neck …, 2018 - journals.sagepub.com
Objective Hearing loss (HL) is the most common sensory-neural defect and the most
heterogeneous trait in humans, with the involvement of> 100 genes, which make a …
heterogeneous trait in humans, with the involvement of> 100 genes, which make a …