HIGHLIGHTS
SUMMARY
Upregulation of RNA_splicing mediators and enhanced alternative splicing events are associated with severe form of Hirschsprung. The higher inclusion rate of exon 9 in PTBP1 and the perturbed expression of a PTBP1-target, PKM, are significantly enriched in these patient cells, and associated with the defective oxidative_phosphorylation and impaired neurogenesis. P value and FDR were calculated by clusterProfiler software. g-j Overall pathway scores of neurogenesis, proliferation, RNA_splicing, and energy metabolism. All samples (two controls with 754 cells, three S-HSCR with 643 cells, intermediated HSCR#1 with 306 cells, and two L-HSCR . . .
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