Article
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Journal of cell science - 1 Jun 2001
Rouan F, White T W, Brown N, Taylor A M, Lucke T W, Paul D L, Munro C S, Uitto J, Hodgins M B, Richard G
Abstract excerpt
Dominant mutations of GJB2-encoding connexin-26 (Cx26) have pleiotropic effects, causing either hearing impairment (HI) alone or in association with palmoplantar keratoderma (PPK/HI). We examined a British family with the latter phenotype and identified a new dominant GJB2 mutation predicted to eliminate the amino acid residue E42 (DeltaE42) in Cx26. To dissect the pathomechanisms that result in diverse...
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