Panel A shows bar graphs depicting the fold induction of genes CHOP, DNAJB9, HERPUD1, HSPA5, and HYOU1 in dermal fibroblasts treated with tunicamycin. The x-axis labels are Patient 1 and Controls, and the y-axis represents fold induction. Panel B shows bar graphs depicting the log2 fold change of genes CD14, CD19, CD79A, IL1B, MMP9, MS4A1, and TNFRSF1B in peripheral blood mononuclear cells. The x-axis labels are Patient 1 and Controls, and the y-axis represents log2 fold change. Statistical significance is indicated with asterisks. The graphs show that gene expression levels are generally lower in Patient 1 compared to controls.
Quantitative real-time PCR analysis of cells from patient 1 and healthy controls. (A) Dermal fibroblasts (HDFs) from patient 1 and three healthy controls were treated with tunicamycin (0.5 µg/ml) or DMSO as vehicle control for 6 h prior to RNA extraction. Relative expression levels were calculated using the ΔΔCt method after normalization to the geometric mean of GAPDH and HPRT1 and expressed as fold induction. Data are shown as individual biological replicates. (B) PBMCs from patient 1 and three healthy controls. Relative expression levels were calculated using the ΔΔCt method after normalization to the geometric mean of GAPDH and HPRT1 and are presented as log2 fold change (log2FC). For both panels, statistical comparisons between patient 1 and controls were performed using two-sided unpaired Student’s t tests followed by Benjamini–Hochberg correction for multiple testing. Statistical significance is indicated as follows: *P < 0.05; **P < 0.01; ns, not significant.