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Studies on the Interaction between Retinoschisin and the Retinal Na/K-ATPase - Towards Elucidating the Molecular Pathomechanism of X-linked Juvenile Retinoschisis

Plößl, Karolina (2019) Studies on the Interaction between Retinoschisin and the Retinal Na/K-ATPase - Towards Elucidating the Molecular Pathomechanism of X-linked Juvenile Retinoschisis. PhD, Universität Regensburg.

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Date of publication of this fulltext: 11 Feb 2019 08:29

Abstract (German)

Bei der X-gebundenen juvenilen Retinoschisis (engl. X-linked juvenile retinoschisis, XLRS) handelt es sich um eine degenerative Erkrankung der Netzhaut, welche auf Grund ihres X-chromosomalen Vererbungsmusters vorwiegend bei Männern auftritt (George et al., 1995). Charakteristisch für die XLRS ist eine Aufspaltung der retinalen Schichten (Schisis) und eine defekte Signalweiterleitung von ...

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Translation of the abstract (English)

X-linked juvenile retinoschisis (XLRS) is a degenerative disease of the retina which primarily affects males due to an X-chromosomal recessive mode of inheritance (George et al., 1995). Mutations in the RS1 gene were shown to be causative for XLRS (Sauer et al. 1997) which is characterized by a splitting of the retinal layers (schisis) as well as defects in signal transduction between ...

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Item type:Thesis of the University of Regensburg (PhD)
Date:11 February 2019
Referee:Prof. Dr. Bernhard H.F. Weber
Date of exam:9 February 2018
Institutions:Medicine > Lehrstuhl für Humangenetik
Keywords:XLRS, retinoschisin, Na/K-ATPase, pathomechanism
Dewey Decimal Classification:500 Science > 570 Life sciences
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:36744
Owner only: item control page

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