Affinage

CSF3R

Granulocyte colony-stimulating factor receptor · UniProt Q99062

Length
836 aa
Mass
92.2 kDa
Annotated
2026-06-09
100 papers in source corpus 37 papers cited in narrative 37 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CSF3R encodes the granulocyte colony-stimulating factor receptor (G-CSFR/CD114), a cytokine receptor that couples G-CSF binding to JAK/STAT5, STAT3, and MAPK signaling to drive granulocytic proliferation and differentiation (PMID:18292815, PMID:29572350, PMID:28031554). Ligand dependence is enforced by membrane-proximal glycosylation: O-linked glycosylation at Thr-615/Thr-618 and N-linked glycosylation at Asn-610 prevent spontaneous dimerization, and unbiased mutational screens confirm that activating mutations are enriched at these glycosylated serine, threonine, and asparagine residues (PMID:24403076, PMID:30348809, PMID:37116708). Receptor output is constrained by ubiquitin/proteasome-dependent internalization and degradation, which requires the ubiquitin-activating enzyme E1 and is targeted by the E3 ligases Fbw7 (interdependently with GSK3β) and E6AP, with ubiquitination at Lys-762 limiting STAT5/STAT3/Akt signaling; loss of these C-terminal motifs underlies receptor overexpression in disease (PMID:18923646, PMID:18554923, PMID:23820376, PMID:28578910). Oncogenic mutations fall into two mechanistically distinct classes: membrane-proximal mutations such as T618I that abolish glycosylation, promote constitutive dimerization and ligand-independent JAK/STAT signaling, and are leukemogenic alone via enhanced MAPK signaling; and cytoplasmic truncation mutations that delete internalization/ubiquitination motifs to cause G-CSF hypersensitivity and preferential SRC-family-TNK2 signaling, transforming only in cooperation with other lesions (PMID:23656643, PMID:24403076, PMID:9885205, PMID:28031554). Membrane-proximal mutations confer ruxolitinib sensitivity in vivo, while MAPK dependence renders both classes sensitive to MEK inhibition, and DUSP1 is a synthetic-lethal vulnerability of CSF3R-driven leukemia (PMID:24081659, PMID:28031554, PMID:38531054). Truncation- and proximal-mutant disease is further driven by cooperating lesions in RUNX1, CEBPA, SETBP1, ASXL1, and by SRSF2-directed missplicing of CSF3R that generates differentiation-impairing isoforms (PMID:28031554, PMID:35941213, PMID:24523240, PMID:35482940, PMID:31784538, PMID:39777477). Inherited CSF3R missense and transmembrane mutations cause both hereditary chronic neutrophilia (gain-of-function dimerization) and severe congenital neutropenia (loss of surface expression) (PMID:19620628, PMID:24753537).

Mechanistic history

Synthesis pass · year-by-year structured walk · 28 steps
  1. 1995 Medium

    Established that the distal cytoplasmic C-terminus is required for G-CSFR to transduce growth signals, defining the maturation-signaling region whose loss appears in disease isoforms.

    Evidence AML-derived SD splice isoform lacking the distal C-terminus assayed for G-CSF binding, JAK2 activation, and BAF3 growth signaling

    PMID:7531515

    Open questions at the time
    • Single isoform from one case
    • Did not define which residues mediate JAK2 coupling
  2. 1999 High

    Identified a cytoplasmic internalization domain deleted in SCN/AML truncation mutants as the mechanistic basis of defective receptor downmodulation and hypersensitive growth signaling.

    Evidence Ligand internalization, receptor downmodulation, and growth assays with defined truncation mutants in transfected cells

    PMID:9885205

    Open questions at the time
    • Did not identify the E3 ligases or ubiquitination sites involved
    • Mechanism of dominant-negative behavior over WT receptor not fully resolved
  3. 2008 High

    Defined ubiquitin/proteasome-dependent control of receptor turnover, showing constitutive and ligand-enhanced ubiquitination at K762 limits the duration of STAT5/Akt signaling.

    Evidence K762R mutagenesis, ubiquitination/internalization/signaling assays, temperature-sensitive E1 cells, and proteasome inhibition in primary neutrophils

    PMID:18554923 PMID:18923646

    Open questions at the time
    • E3 ligases not yet identified in these studies
    • Relationship between K762 ubiquitination and lysosomal vs proteasomal routing partly unresolved
  4. 2008 High

    Demonstrated in vivo that truncated G-CSFR confers a G-CSF-dependent HSC clonal advantage operating through STAT5, linking receptor truncation to a defined downstream effector.

    Evidence Murine bone marrow transplantation with Stat5A/B knockout epistasis and STAT5-impaired truncated receptor

    PMID:18292815

    Open questions at the time
    • Does not address transformation to overt leukemia by truncation alone
    • STAT5 target genes driving proliferation not exhaustively mapped
  5. 2009 Medium

    Showed a transmembrane CSF3R mutation can energetically favor dimerization and cause hereditary chronic neutrophilia, establishing constitutive dimerization as a disease mechanism.

    Evidence Transmembrane dimerization energetics, mouse engraftment, and family clinical study of T617N

    PMID:19620628

    Open questions at the time
    • Single lab/family
    • Whether T617N predisposes to leukemic transformation not established
  6. 2010 Medium

    Identified neutrophil elastase as a post-activation negative regulator that cleaves the G-CSFR ectodomain to reduce surface expression and constrain granulocyte colony formation.

    Evidence NE treatment of human PMN with flow cytometry, cleavage-fragment western blot, and CFU-GM assays

    PMID:20205821

    Open questions at the time
    • Cleavage site not precisely mapped
    • Physiological contribution relative to ubiquitin-mediated turnover unclear
  7. 2013 High

    Defined the two-class model of CSF3R oncogenic mutations with distinct kinase dependencies and showed T618I alone drives a JAK-inhibitor-sensitive myeloproliferative disorder.

    Evidence Inhibitor panels, siRNA screens, transformation assays on patient cells, and a ruxolitinib-treated T618I mouse model

    PMID:23656643 PMID:24081659

    Open questions at the time
    • Molecular trigger of membrane-proximal activation not yet defined here
    • Truncation-class transformation requirements for cooperating lesions not addressed
  8. 2013 Medium

    Identified Fbw7 as an E3 ligase that, interdependently with GSK3β, ubiquitinates G-CSFR to dampen STAT3 signaling and granulocytic differentiation.

    Evidence Co-immunoprecipitation, ubiquitination, knockdown, and STAT3/differentiation assays

    PMID:23820376

    Open questions at the time
    • Single lab
    • Degron sequence recognized by Fbw7 on G-CSFR not mapped
  9. 2014 High

    Pinpointed loss of O-glycosylation at Thr-615/Thr-618 as the molecular cause of T618I-driven ligand-independent dimerization, and showed compound proximal+truncation alleles enhance transformation.

    Evidence O-glycosylation site mutagenesis, dimerization, and Ba/F3 transformation assays

    PMID:24403076

    Open questions at the time
    • Did not resolve N-linked contribution
    • Structural basis of glycosylation-controlled dimerization not determined
  10. 2014 Medium

    Established a loss-of-function CSF3R disease axis: an Arg308Cys mutation perturbs N-glycosylation and reduces surface localization, causing SCN unresponsive to G-CSF.

    Evidence Genetic analysis of two SCN families with surface expression, N-glycosylation, and clinical G-CSF response testing

    PMID:24753537

    Open questions at the time
    • Two families only
    • Trafficking step impaired by the mutation not defined
  11. 2014 Medium

    Showed CSF3R and RUNX1 mutations co-occur in the same clone and cooperatively enhance proliferation while blocking differentiation, framing CSF3R as a cooperating lesion in CN/AML.

    Evidence Single-cell clonal analysis and functional CD34+ co-expression proliferation/differentiation assays

    PMID:24523240

    Open questions at the time
    • Mechanism of RUNX1/CSF3R synergy at transcriptional level not defined
    • Single lab
  12. 2017 Medium

    Expanded the negative-regulator landscape by identifying E6AP as a second E3 ligase degrading G-CSFR and dampening STAT3-driven differentiation.

    Evidence Co-immunoprecipitation, ubiquitination, knockdown, and STAT3/differentiation assays

    PMID:28578910

    Open questions at the time
    • Single lab
    • Hierarchy/overlap with Fbw7-mediated degradation unresolved
  13. 2017 Medium

    Resolved the leukemogenic mechanism of distal truncations as loss of a de-phosphorylation domain causing reduced degradation, and tied oncogenicity to the higher-glycosylated surface receptor form and sufficient STAT5 activation.

    Evidence Ba/F3 transformation, receptor degradation, glycoform western blots, and STAT5 assays

    PMID:28439110

    Open questions at the time
    • Identity of the phosphatase recruited to the deleted domain not established
    • Single lab
  14. 2017 Medium

    Demonstrated that extracellular cysteine substitutions (W341C) transform via disulfide-mediated dimerization, broadening the mechanisms of ligand-independent activation.

    Evidence Ba/F3 transformation, disulfide/dimerization analysis, and JAK inhibitor sensitivity testing

    PMID:28652245

    Open questions at the time
    • Frequency of extracellular-domain mutations in patients not assessed
    • Single lab
  15. 2017 Medium

    Showed a truncated G-CSFR can act dominant-negatively to suppress NE-induced UPR and apoptosis via sustained AKT/STAT5 and BCL-XL, linking receptor truncation to survival of SCN-derived clones.

    Evidence Dominant-negative d715 expression with UPR/apoptosis and AKT/STAT5/BCL-XL readouts

    PMID:28073911

    Open questions at the time
    • Single lab
    • Direct contribution to leukemic progression in vivo not tested here
  16. 2018 High

    Provided an unbiased mechanistic taxonomy of CSF3R gain-of-function mutations and showed that STAT3/ERK activation requires receptor internalization whereas STAT5 acts at the surface, spatially partitioning downstream signaling.

    Evidence Ba/F3 transformation screen, outgrowth sequencing, localization, and pathway-specific signaling with internalization inhibitors

    PMID:29572350

    Open questions at the time
    • Endosomal scaffolds mediating STAT3/ERK activation not identified
    • In vivo relevance of compartmentalized signaling not tested
  17. 2018 High

    Identified Asn-610 as the primary N-linked sialylation site whose loss drives ligand-independent expansion, establishing membrane-proximal N-glycosylation as a second glycan-based guardrail of ligand dependence.

    Evidence Mass spectrometry glycan mapping, N610 mutagenesis, transformation, and JAK inhibitor sensitivity

    PMID:30348809

    Open questions at the time
    • Interplay between N610 and O-glycosylation in dimerization control not dissected
    • Single lab
  18. 2016 High

    Defined MAPK signaling, via Ksr1 upregulation, as a critical and therapeutically tractable driver of CSF3R proximal and compound mutant leukemia, including ruxolitinib-resistant disease.

    Evidence Murine retroviral BMT models, expression profiling, MAPK biochemistry, and trametinib treatment

    PMID:28031554

    Open questions at the time
    • Mechanism coupling receptor dimerization to Ksr1 induction not defined
    • Whether truncation-only disease shares MAPK dependence less clear
  19. 2019 Medium

    Showed that even the activating T618I receptor is constitutively phosphorylated and co-ubiquitinated with JAK2 and undergoes enhanced proteasomal turnover, reconciling constitutive signaling with low surface expression.

    Evidence Proteasome inhibition, immunoprecipitation, phosphotyrosine blotting, and surface expression assays

    PMID:31848046

    Open questions at the time
    • E3 ligase responsible for T618I/JAK2 ubiquitination not identified
    • Single lab
  20. 2019 Medium

    Identified CSF3R splice variants and SRSF2 as a regulator of their ratio, with hypoproliferative V3 dampening JAK-STAT output unless rescued by V1.

    Evidence Digital PCR variant quantitation, proliferation/JAK-STAT assays, and SRSF2 knockout in KG-1 and CD34+ cells

    PMID:31462738

    Open questions at the time
    • Direct SRSF2 binding to CSF3R pre-mRNA not shown here
    • In vivo consequences of altered V3/V1 ratio untested
  21. 2019 Medium

    Defined chromatin-level cooperation between CSF3R and partner lesions: SETBP1 mutations drive self-renewal via Myc programs, and CEBPA loss-of-function must precede CSF3R activation, blocking differentiation-associated enhancers.

    Evidence In vitro replating and in vivo mouse leukemia models with transcriptomic/epigenomic profiling and ordered-mutation epistasis

    PMID:31784538 PMID:35482940

    Open questions at the time
    • Direct molecular link between CSF3R signaling and these chromatin programs not defined
    • Single lab per study
  22. 2020 Medium

    Extended G-CSFR function beyond granulopoiesis, showing it promotes immunosuppressive Treg/macrophage phenotypes that restrain antitumor cytotoxicity.

    Evidence G-CSFR knockout mice with adoptive transfer of T cells and macrophages and cytotoxicity/cytokine readouts

    PMID:33042110

    Open questions at the time
    • Cell-intrinsic vs systemic G-CSFR effects not fully separated
    • Single lab
  23. 2021 Medium

    Implicated G-CSF/G-CSFR in hepatic metabolism via SOCS3-JAK-STAT3 signaling, linking the receptor to insulin resistance and steatosis.

    Evidence GCSF knockout mice on HFD, primary hepatocyte pathway analysis, and liver immune cell phenotyping

    PMID:33470903

    Open questions at the time
    • Hepatocyte-autonomous CSF3R requirement not directly tested
    • Single lab
  24. 2022 High

    Established a direct splicing mechanism whereby SRSF2 P95H binds exon 17 ESEs to generate differentiation-impairing CSF3R Class III/IV isoforms, connecting a spliceosome mutation to aberrant receptor function.

    Evidence CSF3R minigene splicing assays, ESE deletion mutagenesis, and Csf3r-null mouse progenitor isoform add-back differentiation assays

    PMID:35941213

    Open questions at the time
    • Signaling output of Class III/IV isoforms only partly characterized
    • Leukemic potential of isoforms in vivo not fully established
  25. 2023 High

    Identified post-transcriptional control of CSF3R: ALKBH5-mediated m6A demethylation stabilizes CSF3R mRNA to upregulate surface receptor and STAT3 signaling during bacterial infection.

    Evidence RIP-qPCR direct binding, ALKBH5 knockout mice, mRNA stability assays, surface flow cytometry, and STAT3 phosphorylation

    PMID:38114747

    Open questions at the time
    • m6A site(s) on CSF3R mRNA not precisely mapped
    • Reader proteins linking m6A to stability not defined
  26. 2023 High

    Consolidated the glycosylation-guardrail model by mapping O-glycans (GalNAc, Gal-GalNAc) at WT Thr618 and showing the single domain containing residue 618 is sufficient for ligand-independent activity.

    Evidence Domain mapping, unbiased Ba/F3 mutational screen, and mass spectrometry glycan identification

    PMID:37116708

    Open questions at the time
    • Glycan structures linking to dimerization control not structurally resolved
    • Glycosyltransferases responsible not identified
  27. 2024 Medium

    Revealed DUSP1 as a synthetic-lethal vulnerability of CSF3R leukemia, where MAPK-induced DUSP1 suppresses JNK-driven apoptosis, enabling a curative DUSP1+MEK inhibitor combination preclinically.

    Evidence Genetic Dusp1 deletion in murine CSF3R leukemia, BIM/P53/BCL2 signaling analysis, and combination drug treatment

    PMID:38531054

    Open questions at the time
    • Single lab
    • Clinical translatability of DUSP1 inhibition not established
  28. 2025 Medium

    Showed ASXL1 truncation cooperates with CSF3R T621I to expand myeloid-biased HSCs and reprogram histone marks, with CSF3R mutation reversing expected H2AK119ub loss.

    Evidence Double-mutant mouse model with HSC phenotyping, ChIP-seq (H3K4me1, H2AK119ub), and transcriptomics

    PMID:39777477

    Open questions at the time
    • Mechanism by which CSF3R signaling restores H2AK119ub not defined
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • How membrane-proximal glycosylation, receptor dimerization geometry, and compartmentalized JAK/STAT5 vs internalized STAT3/ERK signaling are integrated at structural and trafficking resolution remains unresolved, as do the specific E3 ligases and degrons controlling mutant receptor turnover.
  • No structural model of glycosylation-controlled dimerization
  • E3 ligase for T618I/JAK2 ubiquitination unidentified
  • Endosomal scaffolds for STAT3/ERK activation unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060089 molecular transducer activity 3 GO:0048018 receptor ligand activity 2 GO:0038024 cargo receptor activity 1
Localization
GO:0005886 plasma membrane 5
Pathway
R-HSA-162582 Signal Transduction 4 R-HSA-1643685 Disease 4 R-HSA-168256 Immune System 3 R-HSA-1266738 Developmental Biology 2
Partners
ALKBH5CSF3E6APFBW7GSK3BJAK2LYNSYK

Evidence

Reading pass · 37 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2013 CSF3R mutations segregate into two distinct classes—membrane-proximal (e.g., T618I) and cytoplasmic truncation mutations—that signal through distinct downstream kinases: membrane-proximal mutations preferentially activate JAK kinases, while truncation mutations preferentially signal through SRC family-TNK2 kinases, conferring differential sensitivity to kinase inhibitors. In vitro transformation assays, small-molecule kinase inhibitor panels, siRNA screens on primary leukemia cells The New England journal of medicine High 23656643
2014 The T618I (membrane-proximal) CSF3R mutation causes ligand-independent receptor activation by preventing O-linked glycosylation at Thr-615/Thr-618 residues, which increases receptor dimerization. In contrast, truncation mutations induce receptor overexpression and ligand hypersensitivity by removing endocytosis/degradation motifs. Combining both mutation types on the same allele leads to enhanced cellular transformation compared to either alone. Mutagenesis of O-glycosylation sites, receptor dimerization assays, cell transformation assays (Ba/F3), receptor expression analysis The Journal of biological chemistry High 24403076
1999 A critical internalization domain in the G-CSFR cytoplasmic region is deleted in truncation mutants found in SCN/AML patients; deletion of this domain results in impaired ligand internalization, defective receptor downmodulation, and enhanced growth signaling, explaining the dominant-negative hypersensitivity phenotype. Ligand internalization assays, receptor downmodulation studies, growth signaling assays in transfected cells Blood High 9885205
2008 Expression of truncated mutant Csf3r in mice confers a strong clonal advantage at the HSC level dependent on exogenous G-CSF, mediated through increased G-CSF-induced proliferation and enhanced Stat5 phosphorylation. The proliferative advantage is abrogated in myeloid progenitors lacking both Stat5A and Stat5B, and is reduced in mice expressing a truncated Csf3r engineered to have impaired Stat5 activation. Murine bone marrow transplantation, Stat5 knockout epistasis, phosphorylation assays, Stat5 target gene transcription analysis The Journal of clinical investigation High 18292815
2013 The CSF3R T618I mutation is sufficient to drive a lethal myeloproliferative disorder (overproduction of granulocytes, spleen/liver infiltration) in a murine bone marrow transplantation model, and disease is sensitive to pharmacologic JAK1/2 inhibition with ruxolitinib (reduced WBC, reduced spleen weight). Murine bone marrow transplantation model, ruxolitinib treatment, hematologic and histologic analysis Blood High 24081659
2009 A T617N CSF3R transmembrane domain mutation energetically favors receptor dimerization, leading to constitutive receptor activation and hypersensitivity to G-CSF for proliferation and differentiation, causing hereditary chronic neutrophilia. Structural/energetic analysis of transmembrane dimerization, xenotransplantation and syngeneic mouse bone marrow engraftment assays, family clinical study The Journal of experimental medicine Medium 19620628
2008 The G-CSFR is constitutively ubiquitinated, with ubiquitination increasing after ligand binding. Abrogation of ubiquitin attachment at K762 (the residue deleted in SCN/AML truncation mutants) impairs ligand-induced internalization, prolongs Stat5 and Akt activation after G-CSF withdrawal, and enhances proliferation and survival. Site-directed mutagenesis (K762R), ubiquitination assays, internalization assays, signaling (Stat5, Akt phosphorylation), proliferation/survival assays in transfected cells PloS one High 18923646
2008 The ubiquitin/proteasome system is required for G-CSFR internalization and degradation: in cells with a temperature-sensitive E1 ubiquitin-activating enzyme, ligand-induced receptor internalization is inhibited. In primary human neutrophils, proteasome inhibition (but not lysosome inhibition) blocks internalization/degradation of the activated G-CSFR. Temperature-sensitive E1 ubiquitin-activating enzyme cell lines, chloroquine/MG132 pharmacological inhibition, flow cytometry/western blot in primary neutrophils Cytokine High 18554923
2013 Fbw7 (an SCF E3 ubiquitin ligase substrate-recognition subunit) physically associates with G-CSFR and promotes its ubiquitin-mediated proteasomal degradation; Fbw7-mediated G-CSFR downregulation reduces STAT3 phosphorylation. Fbw7 and GSK3β are interdependent in targeting G-CSFR for degradation—neither alone can degrade G-CSFR when the other is knocked down. Co-immunoprecipitation, ubiquitination assays, knockdown experiments, STAT3 phosphorylation assays, granulocytic differentiation assays Biochimica et biophysica acta Medium 23820376
2017 E6AP (an E3 ubiquitin ligase) physically associates with G-CSFR and promotes its ubiquitin-mediated proteasomal degradation, reducing STAT3 phosphorylation and inhibiting granulocytic differentiation. E6AP knockdown restores G-CSFR expression and signaling. Co-immunoprecipitation, ubiquitination assays, knockdown experiments, STAT3 phosphorylation and differentiation assays Biochimica et biophysica acta. Molecular cell research Medium 28578910
2010 Neutrophil elastase (NE) proteolytically cleaves G-CSFR at its amino-terminus on human PMN in a time-dependent manner, releasing cleavage fragments into conditioned media and reducing receptor surface expression. NE treatment of bone marrow progenitors also inhibits granulocyte-macrophage colony formation (CFU-GM). Flow cytometry, western blot, conditioned media analysis for cleavage fragments, CFU-GM colony assay Journal of inflammation (London, England) Medium 20205821
2014 A homozygous Arg308Cys CSF3R missense mutation causes perturbed N-glycosylation and aberrant (reduced) surface localization of the receptor, resulting in SCN with full myeloid bone marrow maturation but no response to recombinant G-CSF. Genetic analysis of two SCN families, functional analysis of surface expression and N-glycosylation, clinical G-CSF response testing Blood Medium 24753537
1995 A point mutation at the SD splice donor site in the G-CSFR gene in a case of AML leads to overexpression of a novel isoform (SD) lacking the distal C-terminal cytoplasmic maturation-signaling region; the SD isoform has high G-CSF affinity but is scarcely capable of activating JAK2 and fails to transduce growth signals in BAF3 cells. Splice site mutation identification, G-CSF binding assay (affinity), JAK2 activation assay, BAF3 growth signaling assay Blood Medium 7531515
2019 CSF3R T618I mutations cause constitutive tyrosine phosphorylation of the O-glycosylated receptor form and constitutive ubiquitination of both the mutant receptor and JAK2; the T618I receptor undergoes enhanced spontaneous internalization and degradation (proteasome-dependent), resulting in markedly decreased surface expression. Proteasome inhibitor treatment, immunoprecipitation, phosphotyrosine blotting, surface expression analysis in transfected cells Biochemical and biophysical research communications Medium 31848046
2018 Using a cellular transformation screen in Ba/F3 cells, four distinct mechanisms of CSF3R gain-of-function mutations were identified: (1) cysteine/disulfide bond-mediated dimerization (S581C); (2) polar substitution at transmembrane helix dimer interface (T640); (3) increased internalization mimicking low G-CSF dose (E524 substitutions); (4) hydrophobic substitutions in membrane-proximal residues (T612, T615, T618). Additionally, CSF3R-induced STAT3 and ERK activations require receptor internalization, whereas STAT5 activation occurs at the cell surface. Ba/F3 cellular transformation screen, sequencing of outgrowth clones, receptor localization studies, signaling assays (STAT3, STAT5, ERK) with internalization inhibitors The Journal of biological chemistry High 29572350
2017 CSF3R distal cytoplasmic truncation mutations (Q793–Q823) have leukemogenic potential due to markedly decreased receptor degradation, attributed to loss of a de-phosphorylation domain (residues N818–F836). All truncations prior to Q823 increase expression of the higher-molecular-weight (higher-glycosylated) CSF3R band, which is essential for surface expression and oncogenic potential. Sufficient STAT5 activation is required for oncogenic potential. Ba/F3 transformation assays, receptor degradation assays, STAT5 activation assays, western blot for receptor glycoforms Leukemia Medium 28439110
2016 CSF3R proximal mutations alone are leukemogenic (90-day latency in mice) while truncation mutations alone cannot induce leukemia; compound mutations (proximal + truncation on same allele) are leukemogenic with shorter latency (23 days). Upregulation of MAPK adaptor Ksr1 and enhanced MAPK signaling are critical for leukemogenesis by CSF3R proximal and compound mutants; MEK1/2 inhibition by trametinib suppresses leukemia from both mutation types including ruxolitinib-resistant compound mutations. Murine retroviral bone marrow transplantation models, whole-genome expression profiling, biochemical MAPK assays, trametinib pharmacological inhibition Leukemia High 28031554
2017 A W341C extracellular domain CSF3R mutation transforms cells via cysteine-mediated intermolecular disulfide bonds leading to receptor dimerization. Disruption of original cysteine pairs in the CSF3R extracellular domain results in either gain- or loss-of-function depending on the specific pair disrupted. Ba/F3 transformation assays, disulfide bond/dimerization analysis, JAK inhibitor sensitivity testing Cancer research Medium 28652245
2018 The N610 residue of CSF3R is part of a consensus N-linked glycosylation motif and is the primary site of sialylation; mass spectrometry confirmed complex N-glycans at this site. N610 mutations prevent membrane-proximal N-glycosylation and drive ligand-independent cellular expansion, demonstrating that membrane-proximal N-linked glycosylation is critical for maintaining ligand dependence of the receptor. Mass spectrometry glycan mapping, mutagenesis of N610, proliferation/transformation assays, JAK inhibitor sensitivity testing Cancer research High 30348809
2023 Unbiased mutational screening confirmed that activating CSF3R mutations are enriched at glycosylated residues (asparagine, threonine, serine); mass spectrometry confirmed glycosylation at multiple CSF3R residues including GalNAc and Gal-GalNAc O-glycans at WT Thr618. The single CSF3R domain containing residue 618 is sufficient for ligand-independent activity. Protein domain mapping, unbiased mutational screen in Ba/F3 cells, mass spectrometry glycan identification The Journal of biological chemistry High 37116708
2000 G-CSF dose-independently downregulates its own receptor (CD114) on neutrophil surfaces by ~75% in humans and induces neutrophil degranulation (CD11b upregulation) and gelatinase B release (~10-fold increase in plasma); endotoxin (LPS) also downmodulates G-CSFR on neutrophils in vivo in humans. Randomized controlled human endotoxemia study and G-CSF infusion study with flow cytometry for receptor expression, plasma gelatinase B measurement British journal of haematology Medium 10882621 11091218
2004 G-CSF receptor-mediated clearance is an important mechanism for plasma clearance of both filgrastim and pegfilgrastim: G-CSFR knockout mice show significantly greater AUC, longer half-life, longer MRT, and lower clearance compared to wild-type mice for both drugs at both doses tested. G-CSFR knockout mice vs. wild-type pharmacokinetic comparison with ELISA-based plasma drug measurement Pharmacological research Medium 15082029
2008 LRG (leucine-rich alpha2-glycoprotein) expression is induced by G-CSF in myeloid cells; stable LRG expression accelerates G-CSF-mediated neutrophil differentiation and CD11b induction correlating with increased phospho-STAT3, but this acceleration is not seen in cells expressing a chimeric EpoR/G-CSFR (EpoR extracellular + G-CSFR transmembrane/cytoplasmic domains) stimulated with Epo, suggesting LRG acts through G-CSFR-specific extracellular/ligand-binding signals. Stable LRG transfection in 32Dcl3 cells, chimeric EpoR/G-CSFR signaling experiments, STAT3 phosphorylation, CD11b flow cytometry Journal of leukocyte biology Medium 18272588
2017 A truncated G-CSFR mutant (d715, from SCN patient) inhibits G-CSF-induced NE expression in a dominant-negative manner and suppresses unfolded protein response and apoptosis induced by the SCN-derived NE G185R mutant, associated with sustained AKT and STAT5 activation and augmented BCL-XL expression. Dominant-negative expression of G-CSFR d715, NE expression assays, UPR/apoptosis assays, AKT/STAT5 phosphorylation, BCL-XL western blot The Journal of biological chemistry Medium 28073911
2019 Three CSF3R mRNA splice variants exist in hematopoietic cells (V1=wild-type, V3, V4). V3 expression alone confers a hypoproliferative phenotype with defective JAK-STAT activation; coexpression of V1 with V3 rescues proliferative responses. SRSF2 mutations increase the V3/V1 ratio; SRSF2 knockout decreases the V3/V1 ratio. Digital PCR splice variant quantitation, functional proliferation assays, JAK-STAT activation assays, SRSF2 knockout in KG-1 and CD34+ cells Leukemia Medium 31462738
2022 SRSF2 P95H mutation promotes increased expression of CSF3R Class IV splice isoform by binding to exonic splicing enhancer (ESE) sequences in CSF3R exon 17; deletion of either ESE motif decreases Class IV transcripts. Class IV isoform add-back in Csf3r-null mouse progenitors increases granulocyte progenitors with impaired neutrophil differentiation. Class III isoform produces dysmorphic neutrophils. In vitro splicing assays with CSF3R minigene, ESE deletion mutagenesis, Csf3r-null mouse progenitor reconstitution, CD34+ cell G-CSF differentiation assays Leukemia High 35941213
2014 Cooperating CSF3R and RUNX1 mutations co-occur in the same malignant clone in CN/AML patients. Hematopoietic CD34+ cells coexpressing mutated RUNX1 and mutated CSF3R show elevated G-CSF-induced proliferation with diminished myeloid differentiation. Single-cell analysis confirming co-occurrence in same clone, functional G-CSF proliferation and differentiation assays of CD34+ cells coexpressing both mutants Blood Medium 24523240
2011 Truncated G-CSFR cooperates with PML-RARα to induce AML in mice in a G-CSF-dependent fashion, significantly shortening AML latency, demonstrating a causal role for CSF3R truncation mutations in leukemic transformation. Murine retroviral co-expression bone marrow transplantation model, G-CSF dependency testing, hematologic/histologic AML characterization Experimental hematology Medium 21911095
2023 ALKBH5 (m6A RNA demethylase) directly binds CSF3R mRNA and erases m6A methylation on it, increasing CSF3R mRNA stability and protein expression, thereby upregulating cell surface G-CSFR expression and downstream STAT3 signaling in neutrophils during bacterial infection. RIP-qPCR (direct ALKBH5-CSF3R mRNA binding), ALKBH5 knockout mice, mRNA stability assays, surface G-CSFR flow cytometry, STAT3 phosphorylation assays Cellular & molecular immunology High 38114747
2020 G-CSF/G-CSFR signaling promotes an IL-10-producing, FoxP3-expressing inhibitory Treg phenotype in both CD4+ and CD8+ T cells; G-CSFR-/- T cells exhibit increased IFNγ and IL-17A production and greater cytotoxic activity against tumors. Adoptive transfer of G-CSFR-/- macrophages into tumor-bearing mice also shows higher NOS2/NO production and greater tumor cytotoxicity vs. WT macrophages. G-CSFR knockout mice, adoptive transfer of WT vs G-CSFR-/- T cells and macrophages, cytokine multiplex, flow cytometry, in vitro/in vivo cytotoxicity assays Frontiers in immunology Medium 33042110
2021 GCSF binds to GCSFR and activates the SOCS3-JAK-STAT3 signaling pathway in hepatocytes, and GCSF deficiency alleviates HFD-induced insulin resistance and hepatic steatosis in mice. GCSF knockout mice on HFD, primary hepatocyte treatment, SOCS3/JAK/STAT3 pathway analysis, liver immune cell flow cytometry American journal of physiology. Gastrointestinal and liver physiology Medium 33470903
2024 Enhanced MAPK signaling in CSF3R-driven leukemia upregulates DUSP1 expression to suppress apoptosis; genetic deletion of Dusp1 confers synthetic lethality to CSF3R-induced leukemia in mice. DUSP1 depletion activates JNK1/2, inducing BIM and P53 expression and suppressing BCL2 to trigger selective apoptosis in leukemic cells. Combined BCI (DUSP1 inhibitor) + MEK inhibitor cures CSF3R-induced leukemia in preclinical mice. Genetic Dusp1 deletion in murine CSF3R leukemia model, BIM/P53/BCL2 signaling analysis, pharmacological combination treatment in vivo Blood advances Medium 38531054
1999 Src-family kinase Lyn and non-Src kinase Syk associate with the G-CSFR in neutrophils from SCN patients expressing truncated G-CSFR; Syk association is retained because the Syk binding motif (aa 727–747) is upstream of the truncation sites, confirming normal G-CSFR is also expressed in these patients. Co-immunoprecipitation of Lyn and Syk with G-CSFR in neutrophils International journal of hematology Low 10643150
2019 The T618I CSF3R mutation retains O-glycosylation but the O-glycosylated T618I receptor form is constitutively tyrosine phosphorylated and constitutively ubiquitinated along with JAK2; proteasome inhibition markedly increases T618I surface expression, indicating enhanced proteasome-dependent receptor turnover as a mechanism of decreased T618I surface expression. Proteasome inhibitor assays, immunoprecipitation/phosphotyrosine blotting, ubiquitination assays in transfected cells Biochemical and biophysical research communications Medium 31848046
2019 SETBP1 mutations promote self-renewal of CSF3R-mutated hematopoietic progenitors in vitro, prevent terminal differentiation, and accelerate leukemia progression in vivo through upregulation of Myc and Myc target gene expression programs (reversible by LSD1 inhibitors). In vitro progenitor colony replating assays, in vivo mouse leukemia models, transcriptomic and epigenomic profiling, LSD1 inhibitor treatment Blood Medium 35482940
2019 Activating CSF3R mutations cooperate with CEBPA loss-of-function mutations at the level of myeloid lineage enhancers: mutant CEBPA prevents activation of a subset of differentiation-associated enhancers, and CEBPA mutations must occur as the initial event before CSF3R mutations for AML initiation. Murine AML models with defined mutation order, chromatin profiling (enhancer activation analysis), epistasis experiments Nature communications Medium 31784538
2025 Dual Asxl1Y588X and Csf3rT621I mutations cause expansion of myeloid-biased long-term HSCs and enhanced neutrophil differentiation with activation of inflammatory pathways. Asxl1 truncation enhances CSF3RT618I-driven neutrophil differentiation and increases H3K4me1 at neutrophil-associated enhancers. The expected decrease in H2AK119ub in Asxl1-mutant cells is reversed when CSF3R is also mutated. Double-mutant mouse model, HSC flow cytometric analysis, ChIP-seq (H3K4me1, H2AK119ub), transcriptomic profiling, myeloid differentiation assays Blood advances Medium 39777477

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2013 Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. The New England journal of medicine 451 23656643
2013 CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia 196 23604229
2006 Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood 176 16985178
2014 An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia 168 24441292
2014 Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood 126 24523240
2008 Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. British journal of haematology 101 19120359
2013 The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition. Blood 100 24081659
2014 G-CSF and G-CSFR are highly expressed in human gastric and colon cancers and promote carcinoma cell proliferation and migration. British journal of cancer 97 24448357
1995 A point mutation in the granulocyte colony-stimulating factor receptor (G-CSF-R) gene in a case of acute myeloid leukemia results in the overexpression of a novel G-CSF-R isoform. Blood 85 7531515
1999 Deletion of a critical internalization domain in the G-CSFR in acute myelogenous leukemia preceded by severe congenital neutropenia. Blood 79 9885205
2008 Csf3r mutations in mice confer a strong clonal HSC advantage via activation of Stat5. The Journal of clinical investigation 69 18292815
2016 Chemo-genomic interrogation of CEBPA mutated AML reveals recurrent CSF3R mutations and subgroup sensitivity to JAK inhibitors. Blood 68 27034432
2014 Significant clinical response to JAK1/2 inhibition in a patient with CSF3R-T618I-positive atypical chronic myeloid leukemia. Leukemia research reports 68 25180155
2009 An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. The Journal of experimental medicine 63 19620628
2014 Ligand independence of the T618I mutation in the colony-stimulating factor 3 receptor (CSF3R) protein results from loss of O-linked glycosylation and increased receptor dimerization. The Journal of biological chemistry 61 24403076
2014 Inherited biallelic CSF3R mutations in severe congenital neutropenia. Blood 60 24753537
1991 Assignment of the human granulocyte colony-stimulating factor receptor gene (CSF3R) to chromosome 1 at region p35-p34.3. Genomics 58 1833306
2018 CSF3R Mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia. Cancer 55 29932212
2004 Evidence that the granulocyte colony-stimulating factor (G-CSF) receptor plays a role in the pharmacokinetics of G-CSF and PegG-CSF using a G-CSF-R KO model. Pharmacological research 39 15082029
2023 The RNA m6A demethylase ALKBH5 drives emergency granulopoiesis and neutrophil mobilization by upregulating G-CSFR expression. Cellular & molecular immunology 38 38114747
2017 Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia. Oncotarget 38 28209919
2014 CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia. Journal of hematology & oncology 37 25316523
2018 Gain-of-function mutations in granulocyte colony-stimulating factor receptor (CSF3R) reveal distinct mechanisms of CSF3R activation. The Journal of biological chemistry 36 29572350
2016 Enhanced MAPK signaling is essential for CSF3R-induced leukemia. Leukemia 35 28031554
2020 G-CSF and G-CSFR Induce a Pro-Tumorigenic Macrophage Phenotype to Promote Colon and Pancreas Tumor Growth. Cancers 32 33036138
2020 Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies. Blood advances 32 33108454
2017 A GCSFR/CSF3R zebrafish mutant models the persistent basal neutrophil deficiency of severe congenital neutropenia. Scientific reports 32 28281657
2019 Immunohistochemical Study on the Expression of G-CSF, G-CSFR, VEGF, VEGFR-1, Foxp3 in First Trimester Trophoblast of Recurrent Pregnancy Loss in Pregnancies Treated with G-CSF and Controls. International journal of molecular sciences 31 31906232
2019 G-CSFR antagonism reduces neutrophilic inflammation during pneumococcal and influenza respiratory infections without compromising clearance. Scientific reports 30 31776393
2019 Myeloid lineage enhancers drive oncogene synergy in CEBPA/CSF3R mutant acute myeloid leukemia. Nature communications 30 31784538
2013 E3 ubiquitin ligase Fbw7 negatively regulates granulocytic differentiation by targeting G-CSFR for degradation. Biochimica et biophysica acta 30 23820376
2020 G-CSF and G-CSFR Modulate CD4 and CD8 T Cell Responses to Promote Colon Tumor Growth and Are Potential Therapeutic Targets. Frontiers in immunology 29 33042110
2007 The role of the granulocyte colony-stimulating factor receptor (G-CSF-R) in disease. Frontiers in bioscience : a journal and virtual library 29 17127322
2000 Endotoxin down-modulates granulocyte colony-stimulating factor receptor (CD114) on human neutrophils. The Journal of infectious diseases 29 10882621
2008 LRG-accelerated differentiation defines unique G-CSFR signaling pathways downstream of PU.1 and C/EBPepsilon that modulate neutrophil activation. Journal of leukocyte biology 28 18272588
2020 Combined inhibition of JAK/STAT pathway and lysine-specific demethylase 1 as a therapeutic strategy in CSF3R/CEBPA mutant acute myeloid leukemia. Proceedings of the National Academy of Sciences of the United States of America 26 32471953
2017 Characterization of the leukemogenic potential of distal cytoplasmic CSF3R truncation and missense mutations. Leukemia 26 28439110
2009 G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. Haematologica 24 19794089
2021 GCSF deficiency attenuates nonalcoholic fatty liver disease through regulating GCSFR-SOCS3-JAK-STAT3 pathway and immune cells infiltration. American journal of physiology. Gastrointestinal and liver physiology 23 33470903
2011 A truncation mutant of Csf3r cooperates with PML-RARα to induce acute myeloid leukemia in mice. Experimental hematology 22 21911095
2020 SWATH-Proteomics of Ibrutinib's Action in Myeloid Leukemia Initiating Mutated G-CSFR Signaling. Proteomics. Clinical applications 20 32319217
2018 A Novel Germline Variant in CSF3R Reduces N-Glycosylation and Exerts Potent Oncogenic Effects in Leukemia. Cancer research 20 30348809
2022 Mutated SETBP1 activates transcription of Myc programs to accelerate CSF3R-driven myeloproliferative neoplasms. Blood 19 35482940
2021 G-CSFR antagonism reduces mucosal injury and airways fibrosis in a virus-dependent model of severe asthma. British journal of pharmacology 19 33609280
2019 Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia. Frontiers in immunology 19 30891028
2012 Defective G-CSFR signaling pathways in congenital neutropenia. Hematology/oncology clinics of North America 19 23351989
2016 CD114: A New Member of the Neural Crest-Derived Cancer Stem Cell Marker Family. Journal of cellular biochemistry 18 27428599
2010 Expression of CD123 and CD114 on the bone marrow cells of patients with myelodysplastic syndrome. Chinese medical journal 18 20819538
2000 Granulocyte colony-stimulating factor (G-CSF) downregulates its receptor (CD114) on neutrophils and induces gelatinase B release in humans. British journal of haematology 18 11091218
2000 Retrovirus-mediated gene transfer of granulocyte colony-stimulating factor receptor (G-CSFR) cDNA into MDS cells and induction of their differentiation by G-CSF. Cytokines, cellular & molecular therapy 18 11108571
2016 Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia. Annals of the New York Academy of Sciences 16 27270496
2015 CSF3R and CALR mutations in paediatric myeloid disorders and the association of CSF3R mutations with translocations, including t(8; 21). British journal of haematology 16 25858548
2008 In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia. Blood 16 19020310
2019 Altered expression of CSF3R splice variants impacts signal response and is associated with SRSF2 mutations. Leukemia 15 31462738
2017 Unpaired Extracellular Cysteine Mutations of CSF3R Mediate Gain or Loss of Function. Cancer research 14 28652245
2020 CSF3R truncation mutations in a patient with B-cell acute lymphoblastic leukemia and a favorable response to chemotherapy plus dasatinib. Leukemia research reports 12 32577374
2019 T618I CSF3R mutations in chronic neutrophilic leukemia induce oncogenic signals through aberrant trafficking and constitutive phosphorylation of the O-glycosylated receptor form. Biochemical and biophysical research communications 12 31848046
2010 Neutrophil elastase downmodulates native G-CSFR expression and granulocyte-macrophage colony formation. Journal of inflammation (London, England) 12 20205821
2008 G-CSFR ubiquitination critically regulates myeloid cell survival and proliferation. PloS one 12 18923646
2021 Differential Implications of CSF3R Mutations in t(8;21) and CEBPA Double Mutated Acute Myeloid Leukemia. Clinical lymphoma, myeloma & leukemia 11 34975010
2020 Hypermethylation of CSF3R is a novel cisplatin resistance marker and predictor of response to postoperative chemotherapy in hepatoblastoma. Hepatology research : the official journal of the Japan Society of Hepatology 11 31894653
2017 A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA. The Journal of biological chemistry 11 28073911
2016 A CSF3R T618I Mutation in a Patient with Chronic Neutrophilic Leukemia and Severe Bleeding Complications. Internal medicine (Tokyo, Japan) 11 26875968
2008 Role of the proteasome in modulating native G-CSFR expression. Cytokine 11 18554923
2020 Promoter hypermethylation in CSF3R induces peripheral neutrophil reduction in benzene-exposure poisoning. Environmental and molecular mutagenesis 10 32329128
2018 Genome sequence and comparative genomic analysis of a clinically important strain CD11-4 of Janibacter melonis isolated from celiac disease patient. Gut pathogens 10 29387173
2025 CSF3R-AS promotes hepatocellular carcinoma progression and sorafenib resistance through the CSF3R/JAK2/STAT3 positive feedback loop. Cell death & disease 9 40155591
2015 CD114 Expression Mediates Melanoma Tumor Cell Growth and Treatment Resistance. Anticancer research 8 26124323
2014 [CSF3R, ASXL1,SETBP1, JAK2 V617F and CALR mutations in chronic neutrophilic leukemia]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 8 25543699
2012 The granulocyte-colony stimulating factor receptor (G-CSFR) interacts with retinoic acid receptors (RARs) in the regulation of myeloid differentiation. Journal of leukocyte biology 8 23136256
2024 CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia. Human pathology 7 38879086
2024 Increased blood CSF3R+ myeloid-derived suppressor cell is a predictor for breast cancer recurrence. American journal of cancer research 7 39005677
2022 Co-Occurring CSF3R W791* Germline and Somatic T618I Driver Mutations Induce Early CNL and Clonal Progression to Mixed Phenotype Acute Leukemia. Current oncology (Toronto, Ont.) 7 35200567
2022 Alternatively spliced CSF3R isoforms in SRSF2 P95H mutated myeloid neoplasms. Leukemia 7 35941213
2020 Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF. Journal of pediatric hematology/oncology 7 30499904
2020 Cooperating, congenital neutropenia-associated Csf3r and Runx1 mutations activate pro-inflammatory signaling and inhibit myeloid differentiation of mouse HSPCs. Annals of hematology 7 32821971
2024 Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies. Annals of diagnostic pathology 6 38642470
2024 A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation. Blood advances 6 38739706
2021 CSF3R T618I, SETBP1 G870S, SRSF2 P95H, and ASXL1 Q780* tetramutation co-contribute to myeloblast transformation in a chronic neutrophilic leukemia. Annals of hematology 6 33822276
2019 Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF. Journal of pediatric hematology/oncology 6 30028820
2018 Coexisting of bone marrow fibrosis, dysplasia and an X chromosomal abnormality in chronic neutrophilic leukemia with CSF3R mutation: a case report and literature review. BMC cancer 6 29587671
2020 Application of the Moran Model in Estimating Selection Coefficient of Mutated CSF3R Clones in the Evolution of Severe Congenital Neutropenia to Myeloid Neoplasia. Frontiers in physiology 5 33041834
2020 Effect of the unfolded protein response and oxidative stress on mutagenesis in CSF3R: a model for evolution of severe congenital neutropenia to myelodysplastic syndrome/acute myeloid leukemia. Mutagenesis 5 33511998
2019 Next-generation sequencing reveals unique combination of mutations in cis of CSF3R in atypical chronic myeloid leukemia. Journal of clinical laboratory analysis 5 31692115
2017 Identification of a novel CSF3R-SPTAN1 fusion gene in an atypical chronic myeloid leukemia patient with t(1;9)(p34;q34) by RNA-Seq. Cancer genetics 5 29025591
2014 Prevalence and impact of colony stimulating factor 3 receptor (CSF3R) mutations among Egyptian acute myeloid leukemia patients. Leukemia research 5 24746896
2025 Rnf111 has a pivotal role in regulating development of definitive hematopoietic stem and progenitor cells through the Smad2/3-Gcsfr/NO axis in zebrafish. Haematologica 4 39363867
2025 Distribution of different classes of CSF3R mutations and co-mutational pattern in 360 myeloid neoplasia. Annals of hematology 4 39907800
2023 Mutational screens highlight glycosylation as a modulator of colony-stimulating factor 3 receptor (CSF3R) activity. The Journal of biological chemistry 4 37116708
2023 Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms. International journal of molecular sciences 4 38003211
2021 Colony-stimulating factor 3 receptor (CSF3R) M696T mutation does not impact on clinical outcomes of a Ph+ acute lymphoblastic leukemia patient. Blood science (Baltimore, Md.) 4 35402839
2020 Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature. World journal of clinical cases 4 33392315
2017 E6AP inhibits G-CSFR turnover and functions by promoting its ubiquitin-dependent proteasome degradation. Biochimica et biophysica acta. Molecular cell research 4 28578910
2013 GCSF-R expression in myelodysplastic and myeloproliferative disorders and blast dysmaturation in CML. American journal of clinical pathology 4 23897249
1999 Association of src-kinase Lyn and non-src-kinase Syk with the granulocyte colony-stimulating factor receptor (G-CSFR) is not abrogated in neutrophils from severe congenital neutropenia patients with point mutations in the G-CSFR mRNA. International journal of hematology 4 10643150
2025 Dual ASXL1 and CSF3R mutations drive myeloid-biased stem cell expansion and enhance neutrophil differentiation. Blood advances 3 39777477
2024 Enhanced MAPK signaling induced by CSF3R mutants confers dependence to DUSP1 for leukemic transformation. Blood advances 3 38531054
2023 Antineoplastic effects of pharmacological inhibitors of aurora kinases in CSF3RT618I-driven cells. Blood cells, molecules & diseases 3 37839173
2023 CSF3R T618I Collaborates With RUNX1-RUNX1T1 to Expand Hematopoietic Progenitors and Sensitizes to GLI Inhibition. HemaSphere 3 37841755
2015 Chronic neutrophilic leukemia with overexpression of EVI-1, and concurrent CSF3R and SETBP1 mutations: A case report. Oncology letters 3 26622734

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