Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Community Genetics"
DOI: 10.1007/s12687-017-0299-3
Abstract: Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are… read more here.
Keywords: opinions hearing; gjb2 mutations; hearing impairment; hearing parents ... See more keywords
A novel dominant GJB2 (DFNA3) mutation in a Chinese family
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DOI: 10.1038/srep34425
Abstract: To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on… read more here.
Keywords: chinese family; family; dfna3 mutation; novel dominant ... See more keywords
Evolutionary origin of pathogenic GJB2 alleles in China
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DOI: 10.1111/cge.14191
Abstract: The frequency of the pathogenic allele of the autosomal recessive deafness gene GJB2 varies among different populations in the world, and accumulates to a sufficiently high frequency in certain population. The purpose of this study… read more here.
Keywords: pathogenic gjb2; gjb2 235delc; 109g allele; gjb2 ... See more keywords
AAV-mediated base editing restores cochlear gap junction in GJB2 dominant-negative mutation-associated syndromic hearing loss model
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DOI: 10.1172/jci.insight.185193
Abstract: Mutations in the gap junction β2 (GJB2) gene, which encodes connexin 26, are the leading cause of genetic deafness. These mutations are characterized by the degeneration and fragmentation of gap junctions and gap junction plaques… read more here.
Keywords: gjb2; gap junction; hearing loss; base ... See more keywords
The prognostic value and biological significance of gap junction beta protein 2 (GJB2 or Cx26) in cervical cancer
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DOI: 10.3389/fonc.2022.907960
Abstract: Objective To evaluate the prognostic value and explore the biological significance of gap junction protein beta 2 (GJB2 or Cx26) in cervical cancer (CC). Methods We first compared GJB2 expression between CC and normal tissues… read more here.
Keywords: gjb2; expression; biological significance; value ... See more keywords
Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations
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DOI: 10.3390/biology11030476
Abstract: Simple Summary The incidence of the GJB2-p.(Arg143Trp) founder mutation in numerous populations of different ethnolinguistic and geographical backgrounds has generated interest on the provenance and age of the variant, which is predominantly associated with non-syndromic… read more here.
Keywords: ghana; independent origins; gjb2 arg143trp; gjb2 ... See more keywords
Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications
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DOI: 10.3390/ijms26178213
Abstract: Hearing loss is often caused by genetic and environmental factors, with inherited mutations responsible for 50–60% of cases. The GJB2 gene, encoding connexin 26, is a major contributor to nonsyndromic sensorineural hearing loss (NSHL) due… read more here.
Keywords: mutation; gjb2; gjb2 i203t; hearing loss ... See more keywords