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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3

Fig. 3

RNA-seq analysis of HEK293T cells with knock out of GREB1L. a Validation of the knockout efficiency of shRNA. b Volcano map of differentially expressed genes by RNA-seq of the knockout group (SH) and control group (NC). In total, 26,348 genes were quantified, of which 287 genes were upregulated and 281 genes were downregulated. c Heatmap of differentially expressed genes by RNA-seq of the knockout group (SH) and control group (NC). d Gene ontology (GO) terms related to downregulated genes of kidney development in the KO group (biological process). e Disease ontology (DO) terms related to downregulated genes. There were three pathways related to kidney disease, including kidney failure, kidney disease and kidney cancer. f and g The mRNA levels of PAX2 and PTH1R in HEK293T cells with knock out of GREB1L. The results showed that after knocking out GREB1L, both PAX2 and PTH1R mRNA expression significantly decreased, indicating that GREB1L could affect kidney development by regulating the expression of the PAX2 and PTH1R genes

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172