Article
A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro.
The Journal of membrane biology - 1 Aug 2007
Man Y K Stella, Trolove Caroline, Tattersall Daniel, Thomas Anna C, Papakonstantinopoulou Annie, Patel Drashnika, Scott Claire, Chong Jiehan, Jagger Daniel J, O'Toole Edel A, Navsaria Harshad, Curtis Michael A, Kelsell David P
Abstract excerpt
A large proportion of recessive nonsyndromic hearing loss is due to mutations in the GJB2 gene encoding connexin 26 (Cx26), a component of a gap junction. Within different ethnic groups there are specific common recessive mutations, each with a relatively high carrier frequency, suggesting the possibility of heterozygous advantage. Carriers of the R143W GJB2 allele, the most prevalent in the African population,...
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