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AS events in PKM and BMPR2 and their relevance in PH. (A). Increased PTBP1 (splicing repressor) inhibit the inclusion of exon 9 of PKM pre-mRNA, resulting in increased generation of PKM2 isoform and alteration of phenotypes of PH cells. (B). Reduced SRSF2 (splicing activator) levels in a subset of BMPR2 heterozygous mutation carriers increase BMPR2 isoform-B generation, lead to almost complete loss of BMRP2 function (one copy is mutated, another copy generated the B isoform) and PH.
