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The transcription factor Growth Factor Independence 1B (GFI1B) recruits Lysine Specific Demethylase 1A (LSD1/KDM1A) to stimulate gene programs relevant for megakaryocyte and platelet biology. Inherited pathogenic GFI1B variants result in thrombocytopenia and bleeding propensities with varying intens...
ORGANISM(S): Homo sapiens (Human) 
2024-03-28 | PXD050401 | Pride
We have conducted a screen for factors that downregulate expression of the genes encoding the V(D)J recombinase (RAG1 and RAG2) during B cell development. We have identified the transcription factor Gfi1B as being one of the proteins capable of decreasing RAG transcription when overexpressed in Ab...
ORGANISM(S): Mus musculus 
Mutations in the transcription factors GATA1, GFI1B and RUNX1 (GATA Binding Factor 1, Growth Factor Independence 1B, Runt-related transcription factor 1) cause familial platelet and bleeding disorders. Mutant platelets exhibit common abnormalities including an α-granule reduction. This suggests that...
ORGANISM(S): Homo sapiens (Human) 
2022-02-22 | PXD020343 | Pride
Transcriptomic changes induced by GFI1B variants
Dominant-negative mutations in transcription factor Growth Factor Independence-1B (GFI1B) cause a bleeding disorder characterized by a plethora of megakaryocyte and platelet abnormalities. The deregulated molecular mechanisms and pathways are unknown. Here we show that normal and mutant GFI1B inter...
ORGANISM(S): Homo sapiens (Human) 
2019-01-25 | PXD009020 | Pride
GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation
Functional characterization of the clonal hematopoiesis and myeloproliferative neoplasm associated polymorphism rs621940 located downstream of GFI1B
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