Figure 2.

RNA-seq and pathway analyses in a PJS patient. (a) RNA-seq heat map showing the Top 50 differentially expressed genes in PJS1-2 patient-derived fibroblasts compared to matched healthy control fibroblasts. (b) Gene enrichment analysis of upregulated (highlighted in pink) and downregulated (highlighted in blue) pathways from RNA-seq. (c) Gene enrichment analysis of gene-disease association when upregulated (highlighted in pink) and downregulated (highlighted in blue). (d) RNA-seq expression results of STK11 and TP53 showing fold reduction in PJS1-2. See Table S2 for more details. (e) qRT-PCR validation of selected differentially expressed genes identified by RNA-seq. Error bars, standard error of mean. p values (⁣^∗∗∗∗; < 0.0001) are indicated on top of each comparison.