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Article
Spatiotemporal expression patterns of clusterin in the mouse inner ear
Clusterin (CLU) is an extracellular chaperone protein that is implicated in diverse physiological and pathophysiological cellular processes. CLU expression is upregulated in response to cellular stress and und...
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Article
Genetic analysis of COL11A2 in Korean patients with autosomal dominant non-syndromic hearing loss
The collagen type XI alpha 2 gene (COL11A2) is associated with autosomal dominant non-syndromic hearing loss (ADNSHL), and all mutations of this gene in ADNSHL are missense mutations. To evaluate its potential as...
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Article
A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma
Familial paraganglioma (PGL) is a dominantly inherited disorder characterized by development of PGLs in the head and neck region. Germline mutations in genes coding for succinate dehydrogenase (SDH) subunits D...
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Article
Open AccessScreening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans
One of the causes of sensorineural hearing loss (SNHL) is degeneration of the inner hair cells in the organ of Corti in the cochlea. The SLC17A8 (solute carrier family 17, member 8) gene encodes vesicular glutama...
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Article
Multiplex minisequencing screening for PTC genotype associated with bitter taste perception
Sensitivity to phenylthiocarbamide (PTC) has a bimodal distribution pattern and the genotype of the TAS2R38 gene, which is composed of combinations of three coding single nucleotide polymorphisms (SNPs), p.A49P (...
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Article
Open AccessWhole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods. Whole-exome sequencing has recently been introduced as an alternative approach to identif...
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Article
Molecular analysis of TMC1 gene in the Korean patients with nonsyndromic hearing loss
Hereditary nonsyndromic hearing loss (NSHL) is a highly heterogeneous disorder in humans. Mutations of the transmembrane channel-like (TMC1) gene have been identified as the genetic cause for both autosomal reces...
