Zur Kurzanzeige

AutorTeodorescu, Georgetadc.contributor.author
Aufnahmedatum2016-03-14T13:41:28Zdc.date.accessioned
In OPARU verfügbar seit2016-03-14T13:41:28Zdc.date.available
Jahr der Erstellung2007dc.date.created
ZusammenfassungAndersen-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
Spracheendc.language.iso
Verbreitende StelleUniversität Ulmdc.publisher
LizenzStandard (Fassung vom 03.05.2003)dc.rights
Link zum Lizenztexthttps://oparu.uni-ulm.de/xmlui/license_v1dc.rights.uri
SchlagwortAndersen-Tawil syndromedc.subject
SchlagwortDominant negative mechanismdc.subject
SchlagwortKCNJ2 genedc.subject
DDC-SachgruppeDDC 610 / Medicine & healthdc.subject.ddc
MeSHPotassium channels, inwardly rectifyingdc.subject.mesh
MeSHTachycardia, ectopic atrialdc.subject.mesh
TitelFunctional characterization of KCNJ2 mutations associated with Andersen-Tawil syndrome and atrial tachycardiadc.title
RessourcentypDissertationdc.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
FakultätMedizinische Fakultätuulm.affiliationGeneral
Datum der Freischaltung2007-08-09T22:50:03Zuulm.freischaltungVTS
Peer-Reviewneinuulm.peerReview
Signatur DruckexemplarZ: J-H 11.552 ; W: W-H 9.759uulm.shelfmark
DCMI MedientypTextuulm.typeDCMI
VTS-ID5982uulm.vtsID
KategoriePublikationenuulm.category


Dateien zu dieser Ressource

Thumbnail

Das Dokument erscheint in:

Zur Kurzanzeige