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dc.contributor.authorMeşe, Gülistan
dc.contributor.authorSellitto, Caterina
dc.contributor.authorLi, Leping
dc.contributor.authorWang, Hongzhan
dc.contributor.authorValiunas, Virginijus
dc.contributor.authorRichard, Gabriele
dc.contributor.authorBrink, Peter R.
dc.contributor.authorWhite, Thomas W.
dc.date.accessioned2017-02-24T07:32:58Z
dc.date.available2017-02-24T07:32:58Z
dc.date.issued2011-12-15
dc.identifier.citationMeşe, G., Sellitto, C., Li, L., Wang, H.-Z., Valiunas, V., Richard, G., Brink, P. R., and White, T. W. (2011). The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. American Society for Cell Biology, 22(24), 4776-4786. doi:10.1091/mbc.E11-09-0778en_US
dc.identifier.issn1059-1524
dc.identifier.urihttp://doi.org/10.1091/mbc.E11-09-0778
dc.identifier.urihttp://hdl.handle.net/11147/4898
dc.description.abstractMutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness. Some mutations produce a gain of function and cause syndromic deafness associated with skin disorders, such as keratitis-ichthyosis-deafness syndrome (KIDS). Cx26-G45E is a lethal mutation linked to KIDS that forms constitutively active connexin hemichannels. The pathomechanism(s) by which mutant Cx26 hemichannels perturb normal epidermal cornification are poorly understood. We created an animal model for KIDS by generating an inducible transgenic mouse expressing Cx26-G45E in keratinocytes. Cx26-G45E mice displayed reduced viability, hyperkeratosis, scaling, skin folds, and hair loss. Histopathology included hyperplasia, acanthosis, papillomatosis, increased cell size, and osteal plugging. These abnormalities correlated with human KIDS pathology and were associated with increased hemichannel currents in transgenic keratinocytes. These results confirm the pathogenic nature of the G45E mutation and provide a new model for studying the role of aberrant connexin hemichannels in epidermal differentiation and inherited connexin disorders.en_US
dc.description.sponsorshipNational Institutes of Health Grants R01 AR59505 (T.W.W.) and R01GM088181en_US
dc.language.isoengen_US
dc.publisherAmerican Society for Cell Biologyen_US
dc.relation.isversionof10.1091/mbc.E11-09-0778en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectConnexin 26en_US
dc.subjectDoxycyclineen_US
dc.subjectGJB2 mutationsen_US
dc.subjectSyndrome KIDen_US
dc.subjectEnhanced green fluorescent proteinen_US
dc.subjectVohwinkel syndromeen_US
dc.titleThe Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndromeen_US
dc.typearticleen_US
dc.contributor.authorIDTR109363en_US
dc.contributor.iztechauthorMeşe, Gülistan
dc.relation.journalMolecular Biology of the Cellen_US
dc.contributor.departmentİYTE, Fen Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.identifier.volume22en_US
dc.identifier.issue24en_US
dc.identifier.startpage4776en_US
dc.identifier.endpage4786en_US
dc.identifier.wosWOS:000298403000007
dc.identifier.scopusSCOPUS:2-s2.0-84055176143
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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