Journal
FEBS LETTERS
Volume 589, Issue 15, Pages 1904-1910Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2015.05.047
Keywords
Keratitis-ichthyosis-deafness syndrome; Connexin 26; Transgenic mouse mutant; Epidermal water barrier defect; Epidermal calcium gradient; Epidermal ceramides
Funding
- German Research Foundation - Germany [Wi270/30-1, Wi270/33-1, SFB 645]
- NIH - United States of America [Research Service of the Department of Veterans Affairs and NCIRE - United States of America] [R21 ARO61583, R01 AR051930]
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The keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the gap junctional channel protein connexin 26 (Cx26), among them the mutation Cx26S17F. Heterozygous Cx26S17F mice resemble the human KID syndrome, i.e. exhibiting epidermal hyperplasia and hearing impairments. Newborn Cx26S17F mice show a defective epidermal water barrier as well as altered epidermal lipid secretion and location. Linoleoyl omega-esterified ceramides are strongly decreased on the skin surface of Cx26S17F mice. Moreover, the epidermal calcium gradient is altered in the mutant mice. These alterations may be caused by an abnormal Cx26S17F channel function that leads to a defective epidermal water barrier, which in turn may trigger the hyperproliferation seen in the KID syndrome. (C) 2015 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
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