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ProteomicsA novel germline variant in CSF3R highlights the potent oncogenic effects of loss of N-glycosylation and its implication for therapeutic intervention
Mutations in the colony stimulating factor 3 receptor (CSF3R) have been identified in the vast majority of patients with chronic neutrophilic leukemia and are present in other kinds of leukemia, such as AML. Herein, we study the function of novel germline variants in CSF3R at amino acid N610. These ...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) Helicobacter pylori J99 (Campylobacter pylori J99) Acyrthosiphon pisum (Pea aphid) Apis mellifera (Honeybee) Dictyostelium discoideum (Slime mold) Cicer arietinum (Chickpea) (Garbanzo) Candida albicans (Yeast) Gadus morhua (Atlantic cod) Homo sapiens (Human) Brassica oleracea var. botrytis (Cauliflower) Halobacterium salinarum Hepatitis C virus subtype 1a Bombyx mori (Silk moth) Enterococcus faecalis (Streptococcus faecalis) Arabidopsis thaliana (Mouse-ear cress) Arachis hypogaea (Peanut) Cercopithecus aethiops (Green monkey) (Grivet) Hordeum vulgare (Barley) Heliocidaris erythrogramma (Sea urchin) Gallus gallus (Chicken) Drosophila melanogaster (Fruit fly) Caenorhabditis elegans Bos taurus (Bovine) Escherichia coli Brassica napus (Rape) Equus caballus (Horse) 
2018-11-06 | PXD011118 | Pride
Gcsfr Glycosylation Csf3r Receptor activation Myeloid leukemia 
ProteomicsMutational screens highlight glycosylation as a modulator of colony-stimulating factor 3 receptor (CSF3R) activity
The colony-stimulating factor 3 receptor (CSF3R) controls the growth of neutrophils, the most abundant type of white blood cell. In healthy neutrophils, signaling is dependent on CSF3R binding to its ligand, CSF3. A single amino acid mutation in CSF3R, T618I, instead allows for constitutive, ligand-...
ORGANISM(S): Homo sapiens (Human) 
2023-07-20 | PXD035664 | Pride
Receptor Mutagenesis Neutrophil Glycoprotein 
TranscriptomicsRNA sequencing comparing the effect of the introduction of CSF3R-d715 in control- or SCN- hematopoietic progenitor cells (HPCs)
To address how CSF3R mutations affect hematopoiesis in a severe congenital neutropenia (SCN) background we used SCN patient, or control, derived induced pluripotent stem cells (iPSC). HPCs were generated from CRISPR-Cas9 genome edited CSF3R-d715 SCN or control-derived iPSCs with the STEMdiff™ Hemato...
ORGANISM(S): Homo sapiens 
2021-04-01 | E-MTAB-10288 | biostudies-arrayexpress
TranscriptomicsRNA sequencing comparing the effect of the introduction of RUNX1-D171N (RHD) in control- or SCN -CSF3R-d715 hematopoietic progenitor cells (HPCs)
To address how CSF3R and RUNX1 mutations affect hematopoiesis in a severe congenital neutropenia (SCN) background we used SCN patient, or control, derived induced pluripotent stem cells (iPSC). HPCs were generated from CRISPR-Cas9 genome edited CSF3R-d715 SCN or control-derived iPSCs with the STEMdi...
ORGANISM(S): Homo sapiens 
2020-08-24 | E-MTAB-9375 | biostudies-arrayexpress
TranscriptomicsRNA sequencing comparing SCN CSF3R-d715 RUNX1-D171N (RHD) treated with the HDAC inhibitor MS275, octyl-(R)-2hydroxyglutarate (2HG) or solvent control (DMSO)
Effects of TET2 on repressing inflammation have been assigned to its methylcytosine dioxygenase activity, but also to its ability to recruit HDAC-mediated repressor activity to pro-inflammatory genes. To discriminate between the two above-proposed functions of TET2, we asked how inhibition of its en...
ORGANISM(S): Homo sapiens 
2020-08-24 | E-MTAB-9374 | biostudies-arrayexpress
UnknownGain-of-function mutations in granulocyte colony-stimulating factor receptor (CSF3R) reveal distinct mechanisms of CSF3R activation.
Not available
S-EPMC5950016 | biostudies-literature
GenomicsRUNX1-ETO translocations must proceed CSF3R mutations to promote acute myeloid leukemia development
RUNX1-ETO translocations must proceed CSF3R mutations to promote acute myeloid leukemia development
PRJNA905820 | ENA
GenomicsAsxl1 mutation enhances differentiation in CSF3R-mutated myeloproliferative neoplasms [Cut & Tag]
Asxl1 mutation enhances differentiation in CSF3R-mutated myeloproliferative neoplasms [Cut & Tag]
PRJNA1105864 | ENA
GenomicsAsxl1 mutation enhances differentiation in CSF3R-mutated myeloproliferative neoplasms [RNA-Seq]
Asxl1 mutation enhances differentiation in CSF3R-mutated myeloproliferative neoplasms [RNA-Seq]
PRJNA1105863 | ENA
GenomicsAsxl1 mutation enhances differentiation in CSF3R-mutated myeloproliferative neoplasms [ATAC-Seq]
Asxl1 mutation enhances differentiation in CSF3R-mutated myeloproliferative neoplasms [ATAC-Seq]
PRJNA1105868 | ENA
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