Global ETD Search
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Showing 1 to 2 of 2 for “"DAP3"”.
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Phänotyp-Genotyp Korrelation für die Autosomal-Dominante Medullary Cystic Kidney Disease auf Chromosom 1q21
… aus der kritischen Region (CLDN6L und DAP3) der Mutationsanalyse mittels direkter Sequenzierung und dHPLC mit 26 Individuuen aus verschiedenen MCKD1-Familien. Claudin-6-Like (CLDN6L) schien uns ein besonders gutes funktionelles Kandidatengen zu sein, einerseits wegen seiner Beteiligung …
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Mitochondrial Dysfunction and Stress Responses in CHCHD10 Myopathy and Neurodegeneration
… integrated stress response through cleavage of DAP3-binding cell death enhancer 1 (DELE1). I additionally identify an isoform switch in the terminal complex of the electron transport chain as a component of this response. Furthermore, I perform ultra-high depth sequencing of mitochondrial DNA …