{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["107(1)"],"submitter":["Faleschini M"],"pubmed_abstract":["GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we identified a novel GFI1B variant (c.648+5G>A), which causes exon 9 skipping and overexpression of a shorter p32 isoform. We report the clinical data of our patients and critically review the phenotype observed in individuals with different GFI1B variants leading to the same effect on the p32 expression. Since p32 is increased in acute and chronic leukemia cells, we tested the expression level of genes playing a role in various type of cancers, including hematological tumors and found that they are significantly dysregulated, suggesting a potentia"],"journal":["Haematologica"],"pagination":["260-267"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8719102"],"repository":["biostudies-literature"],"pubmed_title":["Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <i>GFI1B</i> germline mutation."],"pmcid":["PMC8719102"],"pubmed_authors":["Seri M","Morel-Kopp MC","Faleschini M","Marconi C","Bozzi V","Savoia A","Pecci A","Melazzini F","Giangregorio T","Noris P","Papa N","Bottega R"],"additional_accession":[]},"is_claimable":false,"name":"Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <i>GFI1B</i> germline mutation.","description":"GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we identified a novel GFI1B variant (c.648+5G>A), which causes exon 9 skipping and overexpression of a shorter p32 isoform. We report the clinical data of our patients and critically review the phenotype observed in individuals with different GFI1B variants leading to the same effect on the p32 expression. Since p32 is increased in acute and chronic leukemia cells, we tested the expression level of genes playing a role in various type of cancers, including hematological tumors and found that they are significantly dysregulated, suggesting a potentia","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jan","modification":"2026-06-20T04:46:48.818Z","creation":"2026-06-20T03:10:24.041Z"},"accession":"S-EPMC8719102","cross_references":{"pubmed":["33472357"],"doi":["10.3324/haematol.2020.267328"]}}