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AuthorTeodorescu, Georgetadc.contributor.author
Date of accession2016-03-14T13:41:28Zdc.date.accessioned
Available in OPARU since2016-03-14T13:41:28Zdc.date.available
Year of creation2007dc.date.created
AbstractAndersen-Tawil syndrome is a triad of periodic paralysis, cardiac arrhythmias and dysmorphic features. The causative gene KCNJ2 encoding the Kir2.1 inward-rectifier potassium channel contributes to cell excitability and resting membrane potential in excitable tissues, including the heart, brain and skeletal muscle. To date more than 30 point mutations have been characterized, all involving residues that are highly conserved across all Kir channel subunits and that lie in functionally important domains of the channel. I have identified five additional mutations in the KCNJ2 gene: D78G, R82W, V93I, G215D, and G215R. With the help of the whole-cell recording mode of the patch-clamp technique I characterized electrophysiologically these Kir mutations. I performed confocal scanning laser microscopy to investigate the trafficking to the cell membrane of mutated channels. Additionally, my data show that the KCNJ2 gene is a new locus responsible for atrial tachycardia.dc.description.abstract
Languageendc.language.iso
PublisherUniversität Ulmdc.publisher
LicenseStandard (Fassung vom 03.05.2003)dc.rights
Link to license texthttps://oparu.uni-ulm.de/xmlui/license_v1dc.rights.uri
KeywordAndersen-Tawil syndromedc.subject
KeywordDominant negative mechanismdc.subject
KeywordKCNJ2 genedc.subject
Dewey Decimal GroupDDC 610 / Medicine & healthdc.subject.ddc
MeSHPotassium channels, inwardly rectifyingdc.subject.mesh
MeSHTachycardia, ectopic atrialdc.subject.mesh
TitleFunctional characterization of KCNJ2 mutations associated with Andersen-Tawil syndrome and atrial tachycardiadc.title
Resource typeDissertationdc.type
DOIhttp://dx.doi.org/10.18725/OPARU-851dc.identifier.doi
URNhttp://nbn-resolving.de/urn:nbn:de:bsz:289-vts-59826dc.identifier.urn
GNDSupraventrikuläre Tachykardiedc.subject.gnd
FacultyMedizinische Fakultätuulm.affiliationGeneral
Date of activation2007-08-09T22:50:03Zuulm.freischaltungVTS
Peer reviewneinuulm.peerReview
Shelfmark print versionZ: J-H 11.552 ; W: W-H 9.759uulm.shelfmark
DCMI TypeTextuulm.typeDCMI
VTS-ID5982uulm.vtsID
CategoryPublikationenuulm.category


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