Please use this identifier to cite or link to this item:
https://hdl.handle.net/11147/9919
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Aypek, Hande | - |
dc.contributor.author | Meşe, Gülistan | - |
dc.date.accessioned | 2021-01-24T18:31:41Z | - |
dc.date.available | 2021-01-24T18:31:41Z | - |
dc.date.issued | 2015 | - |
dc.identifier.issn | 0022-202X | - |
dc.identifier.issn | 1523-1747 | - |
dc.identifier.uri | https://hdl.handle.net/11147/9919 | - |
dc.description | 45th Annual Meeting of the European-Society-for-Dermatological-Research | en_US |
dc.description.abstract | Connexins (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.iso | en | en_US |
dc.publisher | Nature Publishing Group | en_US |
dc.relation.ispartof | Journal of Investigative Dermatology | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.title | Keratitis-Ichthyosis-Deafness syndrome associated mutations impair the localization and functions of Connexin 26 | en_US |
dc.type | Conference Object | en_US |
dc.institutionauthor | Aypek, Hande | - |
dc.institutionauthor | Meşe, Gülistan | - |
dc.department | İzmir Institute of Technology. Molecular Biology and Genetics | en_US |
dc.identifier.volume | 135 | en_US |
dc.identifier.startpage | S63 | en_US |
dc.identifier.endpage | S63 | en_US |
dc.identifier.wos | WOS:000359739400365 | en_US |
dc.relation.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | en_US |
dc.identifier.wosquality | Q1 | - |
dc.identifier.scopusquality | Q2 | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | With Fulltext | - |
item.openairetype | Conference Object | - |
item.languageiso639-1 | en | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
crisitem.author.dept | 04.03. 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 |
Files in This Item:
File | Size | Format | |
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1-s2.0-S0022202X15602044-main.pdf | 59.04 kB | Adobe PDF | View/Open |
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