期刊
JOURNAL OF INVESTIGATIVE DERMATOLOGY
卷 136, 期 3, 页码 574-583出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jid.2015.11.017
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类别
资金
- German Research Foundation [Wi270/30-1, W270/33-1, SFB 645]
- Anillo [ACT 1104]
- Fondecyt [1130855, 1120802, 3150634]
The keratitis-ichthyosis-deafness (KID) syndrome is characterized by corneal, skin, and hearing abnormalities. KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively. In vitro evidence indicates that KID mutations lead to hyperactive (open) hemichannels, which in some cases is accompanied by abnormal function of gap junction channels. Transgenic mouse models expressing connexin26 KID mutations reproduce human phenotypes and present impaired epidermal calcium homeostasis and abnormal lipid composition of the stratum corneum affecting the water barrier. Here we have compiled relevant data regarding the KID syndrome and propose a mechanism for the epidermal aspects of the disease.
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