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Pathophysiologie der p.A167V-Mutation von KCNJ10

Tondorf, Felizitas (2016) Pathophysiologie der p.A167V-Mutation von KCNJ10. PhD, Universität Regensburg.

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Date of publication of this fulltext: 25 Jul 2016 10:26

Abstract (German)

KCNJ10 ist ein einwärtsgleichrichtender Kaliumkanal, der in der Niere, im ZNS und im Innenohr exprimiert wird. In der Niere kommt er als Heteromer mit KCNJ16, einem verwandten Kanalprotein, vor. Mutationen von KCNJ10 lösen ein von Epilepsie, Ataxie, sensorineuraler Taubheit und Salzverlust-Tubulopathie geprägtes Krankheitsbild aus, das autosomal-rezessive EAST- bzw SeSAME-Syndrom. Bisher sind 14 ...

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Translation of the abstract (German)

KCNJ10 is an inwardly rectifying potassium channel, which is expressed in the kidney, the CNS and the inner ear. In the kidney it is found in heteromeric expression with KCNJ16, a closely related channel protein. Mutations of KCNJ10 cause a disease pattern which is characterized by epilepsy, ataxia, sensorineural deafness and a renal salt-wasting tubulopathy, the autosomal-recessive EAST- or ...

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Item type:Thesis of the University of Regensburg (PhD)
Date:25 July 2016
Referee:Prof. Dr. Richard Warth
Date of exam:24 June 2016
Institutions:Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Richard Warth
Keywords:A167V; channelopathy; EAST-Syndrome; KCNJ10; patch clamp; tubulopathy, SeSAME-Symdrome
Dewey Decimal Classification:500 Science > 500 Natural sciences & mathematics
500 Science > 570 Life sciences
600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:34079
Owner only: item control page

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