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Expression and function of the connexin43G138R mutation in mice causing oculodentodigital dyplasia (ODDD) in human

dc.contributor.advisorWillecke, Klaus
dc.contributor.authorDobrowolski, Radoslaw
dc.date.accessioned2020-04-12T16:27:51Z
dc.date.available2020-04-12T16:27:51Z
dc.date.issued18.07.2008
dc.identifier.urihttp://hdl.handle.net/20.500.11811/3652
dc.description.abstract

The Cx43G13R expressing mice present a new conditional mouse model for ODDD, carrying the human G138R point mutation. The main findings of this study are the occurrence of all common phenotypes of the human-inherited disease ODDD, like syndactylies, craniofacial anomalies, enamel hypoplasia, and the heart related mortality of Cx43G138R heterozygously mutated mice. The mortality of the mice is likely due to the strongly decreased gap junctional function, supporting the proarrhythmic action of the G138R-mutated Cx43 protein. This appears to be associated with a strongly diminished phosphorylation (P2 band) of this protein. The expression of the mutant Cx43 in HeLa and ES cell as well as the use of primary cardiomyocytes derived from mutant embryonic hearts revealed besides a strong decrease of Cx43 mediated gap junctional coupling and increased activity of ATP releasing channels. The physiological relevance of both effects could be ascertained in vivo.

dc.language.isoeng
dc.rightsIn Copyright
dc.rights.urihttp://rightsstatements.org/vocab/InC/1.0/
dc.subject.ddc570 Biowissenschaften, Biologie
dc.titleExpression and function of the connexin43G138R mutation in mice causing oculodentodigital dyplasia (ODDD) in human
dc.typeDissertation oder Habilitation
dc.publisher.nameUniversitäts- und Landesbibliothek Bonn
dc.publisher.locationBonn
dc.rights.accessRightsopenAccess
dc.identifier.urnhttps://nbn-resolving.org/urn:nbn:de:hbz:5N-14866
ulbbn.pubtypeErstveröffentlichung
ulbbnediss.affiliation.nameRheinische Friedrich-Wilhelms-Universität Bonn
ulbbnediss.affiliation.locationBonn
ulbbnediss.thesis.levelDissertation
ulbbnediss.dissID1486
ulbbnediss.date.accepted15.07.2008
ulbbnediss.fakultaetMathematisch-Naturwissenschaftliche Fakultät
dc.contributor.coRefereeScheidtmann, Karl Heinz


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