Results 1 to 10 of about 131,096 (285)
Stem Cell Research, 2022 Mutations of SOX10 result in Waardenburg syndrome characterized by sensorineural hearing loss and pigmentary abnormalities, which can be found in association with a defect of migrating neural crest cells.
Xiaohong Li +10 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2021 ObjectiveTo report the phenotypic heterogeneity of GJB2 c.235delC homozygotes associated with post-lingual and/or milder hearing loss, and explore the possible mechanism of these unconditional phenotypes.MethodsMutation screening of GJB2 was performed on
Hongyang Wang +40 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2021 ATP6V1B2 encodes the V1B2 subunit in V-ATPase, a proton pump responsible for the acidification of lysosomes. Mutations in this gene cause DDOD syndrome, DOORS syndrome, and Zimmermann–Laband syndrome, which share overlapping feature of congenital ...
Shiwei Qiu +12 more
doaj +1 more source
Study on Screening Core Biomarkers of Noise and Drug-Induced Hearing Loss Based on Transcriptomics
Global Medical Genetics, 2023 Background Noise and drug-induced hearing loss (HL) is becoming more and more serious, but the integration and analysis based on transcriptomics and proteomics are lacking.
Xin Qiu +4 more
doaj +1 more source
Frontiers in Oncology, 2021 BackgroundTo investigate the efficacy of induction chemotherapy followed by concurrent chemotherapy and helical tomotherapy in adult patients with locally advanced small-round-cell malignancy of the nasal cavity and paranasal sinus in regard to orbital ...
Nanxiang Chen +9 more
doaj +1 more source
The Role of Genetic Variants in the Susceptibility of Noise-Induced Hearing Loss
Frontiers in Cellular Neuroscience, 2022 Noised-induced hearing loss (NIHL) is an acquired, progressive neurological damage caused by exposure to intense noise in various environments including industrial, military and entertaining settings.
Xue-min Chen +29 more
doaj +1 more source
Investigation of hearing loss in elderly vertigo and dizziness patients in the past 10 years
Frontiers in Aging Neuroscience, 2023 BackgroundVertigo and hearing loss are both prevalent in the elderly. This study retrospectively analyzed hearing test results from elderly patients experiencing vertigo and dizziness at ENT outpatient over a 10-year period, in order to study the ...
Qian Wang +28 more
doaj +1 more source
Stem Cell Research, 2021 Dominant deafness-onychodystrophy (DDOD) syndrome is a rare autosomal dominant disorder caused by mutations in ATP6V1B2 gene. We previously generated an induced pluripotent stem cell (iPSC) line (CPGHi002-A) from a DDOD patient with a heterozygous c.1516
Xue Gao +6 more
doaj +1 more source
Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss
Frontiers in Genetics, 2022 Non-syndromic hearing loss (NSHL) is a common neurosensory disease with an extreme genetic heterogeneity which has been linked to variants in over 120 genes.
Wei-Qian Wang +12 more
doaj +1 more source
Frontiers in Medicine, 2021 Background: Auditory brainstem response (ABR) testing is an invasive electrophysiological auditory function test. Its waveforms and threshold can reflect auditory functional changes in the auditory centers in the brainstem and are widely used in the ...
Cheng Chen +13 more
doaj +1 more source