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Chen et al., 2026 - GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss

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Fig. 6

Transcriptome sequencing analysis and validation of GJB2 c.109G > A mutant. Differentially expressed genes were screened according to the standard of FDR-P < 0.05 and |log2 Fold Change|>0.5, and visualized (A) heatmap and (B) volcano plot were drawn, (C) GO analysis was performed, and (D) qPCR analysis of mRNA expression levels of ifi27.4, ifi27.3, ifi27.1 and apoptosis-related genes bax, caspase3, caspase9, apaf1 in Control group, Mut group and MO group. qPCR were calculated by the relative quantification method, and the expression level of the gene was F = 2^-△△CT. Each column and bar represent the mean ± SEM. All data were statistically analyzed by one-way ANOVA, the average expression of each gene is arranged in order from large to small, letter a represent the largest average. When comparing this largest average with the second largest average, letter b represent a significant difference. When comparing the second largest average with the third largest average, letter c represent a significant difference. When comparing the third largest average with the smallest average, if the difference is not significant, the smallest is also denoted by c.

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