Qualitative differences in diseases-associated mutants reveal molecular signatures and aberrant signaling-crosstalk

We generated HEK293 cells stably expressing diseases-derived mutants and performed a genome-wide transcriptome analysis using the 60K SurePrint G3 Human gene expression microarray technology. By the analysis of their gene expression profiles, we identified diseases-associated signature genes that may serve as diagnostic markers or therapeutic targets for the diseases. We compared mRNA expression of HEK293 cells stably expressing WT, or a representative disease-associated mutant (F53S or K57N).