Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/9919
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dc.contributor.authorAypek, Hande-
dc.contributor.authorMeşe, Gülistan-
dc.date.accessioned2021-01-24T18:31:41Z-
dc.date.available2021-01-24T18:31:41Z-
dc.date.issued2015-
dc.identifier.issn0022-202X-
dc.identifier.issn1523-1747-
dc.identifier.urihttps://hdl.handle.net/11147/9919-
dc.description45th Annual Meeting of the European-Society-for-Dermatological-Researchen_US
dc.description.abstractConnexins (Cx) form gap junctions and non-junctional hemichannels that play roles in several cellular mechanisms, including proliferation and differentiation. The importance of connexins for human physiology was shown by the association of mutations in several isoforms with various human hereditary disorders. Mutations in Cx26 cause both non-syndromic and syndromic deafness associated with skin disorders including keratitis-ichthyosis-deafness (KID) syndrome. In vitro characterization of Cx26 mutations suggested that mutations causing non-syndromic deafness and syndromic deafness show different properties, where the former ones result in loss-of-function and the latter ones cause gain-of-function mutations.en_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofJournal of Investigative Dermatologyen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleKeratitis-Ichthyosis-Deafness syndrome associated mutations impair the localization and functions of Connexin 26en_US
dc.typeConference Objecten_US
dc.institutionauthorAypek, Hande-
dc.institutionauthorMeşe, Gülistan-
dc.departmentİzmir Institute of Technology. Molecular Biology and Geneticsen_US
dc.identifier.volume135en_US
dc.identifier.startpageS63en_US
dc.identifier.endpageS63en_US
dc.identifier.wosWOS:000359739400365en_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.identifier.wosqualityQ1-
dc.identifier.scopusqualityQ1-
item.grantfulltextopen-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.openairetypeConference Object-
item.languageiso639-1en-
item.fulltextWith Fulltext-
crisitem.author.dept04.03. Department of Molecular Biology and Genetics-
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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