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Fig. 3 | Arthritis Research & Therapy

Fig. 3

From: Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome

Fig. 3

NOD-like receptor (NLR) signaling pathway is associated with the pathogenesis of YAOS. A NF-κB dual-luciferase reporter assay was conducted in the HEK293T cells transfected with either NOD2-WT or Q902K without (left) or with (right) 24 h MDP (10 μg/mL) stimulation. Fold was expressed as the Firefly (F: Lum)/Renilla luciferase activity (R: Lum). The values were normalized to the ratio of the EV group without (left) or with (right) MDP stimulation respectively. Analysis of samples was performed in triplicate. WT, wild type. B–E RNA sequencing of patient 1 and HC groups (n = 6). B The heatmap for DEGs comparing patient 1 and HCs. C Volcano plot for DEGs. D The heatmap of genes enriched in the NOD-like receptor signaling pathway with KEGG analysis. E GSEA analysis. DEGs, differentially expressed genes; KEGG, Kyoto Encyclopedia of Genes and Genomes; GSEA, gene set enrichment analysis

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