We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.
- Authors
de Zwart-Storm, E. A.; van Geel, M.; Veysey, E.; Burge, S.; Cooper, S.; Steijlen, P. M.; Martin, P. E.; van Steensel, M. A. M.
- Abstract
Gap junctions are intercellular channels which are permeable to ions and small molecules up to about 1 kDa in size. They are prominent in the skin, but their precise function there is largely unknown. Mutations in skin-expressed gap junction genes disrupt epidermal growth and differentiation. A relatively minor epidermal connexin, connexin 26 (Cx26), is associated with a wide variety of phenotypes, each specifically associated with a particular amino acid residue. How the different mutations in GJB2 lead to such distinctive phenotypes is poorly understood. Analysis of new GJB2 mutations can shed new light on pathogenesis and the apparently vital role of Cx26 in maintaining epidermal integrity.
- Subjects
GAP junctions (Cell biology); CELL communication; IONS; MOLECULES; EPIDERMAL growth factor; SKIN abnormalities
- Publication
British Journal of Dermatology, 2011, Vol 164, Issue 1, p197
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/j.1365-2133.2010.10058.x