Panel A shows a volcano plot and a line graph. The volcano plot depicts the transcriptomic analysis in HDF in response to tunicamycin treatment compared to controls, with log2 fold change on the x-axis and minus log10 P-value on the y-axis. The line graph shows the response to endoplasmic reticulum stress, with the enrichment score on the y-axis and rank in ordered dataset on the x-axis. Panel B includes a volcano plot and a bar graph. The volcano plot illustrates PBMC proteomics with log2 fold change on the x-axis and minus log10 P-value on the y-axis. The bar graph displays dysregulated canonical pathways with normalized enrichment score on the y-axis. Panel C features a volcano plot and a bar graph. The volcano plot represents PBMC transcriptomics with log2 fold change on the x-axis and minus log10 P-value on the y-axis. The bar graph shows dysregulated canonical pathways with normalized enrichment score on the y-axis. Panel D contains a volcano plot and a bar graph. The volcano plot depicts bone marrow transcriptomics with log2 fold change on the x-axis and minus log10 P-value on the y-axis. The bar graph illustrates dysregulated canonical pathways with normalized enrichment score on the y-axis.
Multi-omics analyses of patient 1 cells compared with controls under normal and stress conditions. (A) Transcriptomic analysis in HDF in response to tunicamycin treatment compared with the controls and normalized to mock treatment. (B–D) Proteomic and transcriptomic analyses of PBMC (B and C), and transcriptomic analyses of bone marrow samples (D). Left panels show volcano plots demonstrating up- and downregulated genes and proteins in patient 1 compared with the controls, respectively, using log2 fold change and P value cutoffs of 1 and 0.05, respectively. Right panels show dysregulated canonical pathways in patient 1 compared with controls; **P < 0.01; ****P < 0.0001. GSEA was performed in WebGestalt using a weighted Kolmogorov–Smirnov statistic, with obtained P values from permutation testing and adjusted using FDR (Benjamini–Hochberg). FDR, false discovery rate; NES, normalized enrichment score.