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ProteomicsSpecific proteome changes in platelets from individuals with GATA1-, GFI1B- and RUNX1-linked bleeding disorders
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
Platelet disorders Bleeding Transcription factors Runx1 Gata1 Gfi1b 
ProteomicsGFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation
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
Human Kdm1a Crispaint Gfi1b 
GenomicsThe Growth factor independence 1 (GFI1) 36N variant predisposes to Acute Myeloid Leukemia (AML) by inducing epigenetic changes at the Hoxa9 locus
GFI136N is a coding Single Nucleotide Polymorphism (SNP) in the gene GFI1 that increases the risk for Acute myeloid leukemia (AML) by 60%. It is present in 3-5% of Caucasians and has a prevalence of 12% among AML patients. We generated knockin mice expressing either the human GFI136N variant or the ...
ORGANISM(S): Mus musculus 
2012-12-04 | E-GEOD-31657 | biostudies-arrayexpress
GenomicsBP_August_2016_RNA-Seq_hematopoietic_multipotent_progenitor_cell_on_GRCh38 - samples
RNA-Seq data for 3 hematopoietic multipotent progenitor cell sample(s). 9 run(s), 3 experiment(s), 3 analysis(s) on human genome GRCh38. Part of BLUEPRINT release August 2016. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20160816/homo_sapiens/README_rnase...
EGAD00001002363 | EGA
GenomicsBP_January_2015_RNA-Seq_CD34-negative,_CD41-positive,_CD42-positive_megakaryocyte_cell - samples
RNA-Seq data for 5 CD34-negative, CD41-positive, CD42-positive megakaryocyte cell sample(s). 23 run(s), 5 experiment(s), 5 alignment(s). Part of BLUEPRINT release January 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnas...
EGAD00001001165 | EGA
GenomicsBP_August_2015_RNA-Seq_granulocyte_monocyte_progenitor_cell_on_GRCh38 - samples
RNA-Seq data for 3 granulocyte monocyte progenitor cell sample(s). 3 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_an...
EGAD00001001501 | EGA
GenomicsBP_August_2014_RNA-Seq_granulocyte_monocyte_progenitor_cell - samples
RNA-Seq data for 3 granulocyte monocyte progenitor cell sample(s). 3 run(s), 3 experiment(s), 3 alignment(s). Part of BLUEPRINT release August 2014. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20140811/homo_sapiens/README_rnaseq_analysis_crg_20140811
EGAD00001000922 | EGA
GenomicsBP_August_2015_RNA-Seq_common_lymphoid_progenitor_on_GRCh38 - samples
RNA-Seq data for 5 common lymphoid progenitor sample(s). 20 run(s), 5 experiment(s), 5 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnaseq_analysis_cr...
EGAD00001001558 | EGA
GenomicsBP_August_2015_RNA-Seq_hematopoietic_multipotent_progenitor_cell_on_GRCh38 - samples
RNA-Seq data for 3 hematopoietic multipotent progenitor cell sample(s). 9 run(s), 3 experiment(s), 3 alignment(s) on human genome GRCh38. Part of BLUEPRINT release August 2015. Analysis documentation available at http://ftp.ebi.ac.uk/pub/databases/blueprint/releases/20150820/homo_sapiens/README_rnas...
EGAD00001001561 | EGA
Genomicsena-DATASET-BLUEPRINT-21-02-2014-11:36:11:836-20 - samples
Data supporting the paper Transcriptional diversity during lineage commitment of human blood progenitors
EGAD00001000745 | EGA
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