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
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