Sensorineural hearing loss (SNHL) affects millions of people. Genetic mutations play a large
and direct role in both congenital and late-onset cases of SNHL (eg, age-dependent hearing …

Significance: MicroRNAs (miRNAs) are important regulators of gene expression and define
part of the epigenetic signature. Their influence on every realm of biomedicine is established …

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …

Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several
types of transmission. X-linked hearing loss accounts for approximately 1%-2% of cases of …

Objective A hitherto undescribed phenotype of early onset muscular dystrophy associated
with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 …

Oxysterol binding protein like 2 (OSBPL2), an important regulator in cellular lipid metabolism
and transport, was identified as a novel deafness-causal gene in our previous work. To …

Sensorineural hearing loss is a common sensory impairment in humans caused by
abnormalities in the inner ear. The stria vascularis is regarded as a major cochlear structure …

Objective To systematically review and quantify current evidence regarding the association
of GJB2 mutation status with outcomes of pediatric cochlear implantation. Data Sources …

儿童听力损失的遗传学研究进展- PMC Back to Top Skip to main content NIH NLM Logo Access
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Effective cholesterol homoeostasis is essential in maintaining cellular function, and this is
achieved by a network of lipid-responsive nuclear transcription factors, and enzymes …