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. Author manuscript; available in PMC: 2022 Jan 2.
Published in final edited form as: Platelets. 2020 May 14;32(1):141–143. doi: 10.1080/09537104.2020.1760229

Figure. Transcriptional changes induced by mutant ETV6, overall decreased megakaryocyte and platelet transcripts.

Figure

A) RNA clustering among affected individuals with the ETV6 p.P214L mutation compared to unaffected relatives. B) differentially expressed transcripts between affected and unaffected relatives. Gene Set Enrichment Analysis of differentially expressed transcripts in p.P214L platelets compared to control C) erythroid transcripts enriched in patients D) platelet transcripts enriched in controls. E) Genes significantly associated with gene ontology terms. All the genes and pathways in boxes are downregulated in patients with the ETV6 p.P214L mutation when compared to related controls and are overlapped to the megakaryocyte erythroid progenitor to megakaryocyte/platelet pathway as potential sites of action.