Affinage

CBFB

Core-binding factor subunit beta · UniProt Q13951

Length
182 aa
Mass
21.5 kDa
Annotated
2026-04-28
100 papers in source corpus 24 papers cited in narrative 24 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CBFB encodes the β subunit of Core Binding Factor (CBF), a transcriptional regulator essential for definitive hematopoiesis, skeletal development, and tumor suppression. In the nucleus, CBFβ heterodimerizes with RUNX family proteins (RUNX1/2/3) via histone-fold domain interactions, stabilizing them against ubiquitin-mediated proteasomal degradation and enhancing their DNA-binding activity to regulate target genes including those controlling hematopoietic differentiation, osteoblast maturation, chondrocyte development, and palatogenesis (PMID:25262822, PMID:17379770, PMID:31171577); the nuclear CBFβ/RUNX1 complex also recruits DNMT3A to maintain DNA methylation at target loci and represses NOTCH signaling (PMID:34336831, PMID:31061501). Beyond its canonical nuclear role, cytoplasmic CBFβ binds hundreds of mRNAs via hnRNPK and promotes their translation through eIF4B, and mitochondrial CBFβ enhances mitochondrial genome translation by facilitating mRNA binding to the elongation factor TUFM, linking CBFβ loss to defective oxidative phosphorylation (PMID:31061501, PMID:36799863). The leukemia-associated CBFB-MYH11 fusion protein acts as a dominant-negative by sequestering RUNX1 in cytoplasmic aggregates, blocking CBF-dependent differentiation, suppressing CEBPA translation via calreticulin induction, and maintaining self-renewal gene expression, establishing this fusion as a driver of inv(16) acute myeloid leukemia (PMID:8929537, PMID:15855281, PMID:24002588, PMID:38061017).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 1995 High

    Establishing CBFβ as an obligate component of a DNA-binding transcription factor complex resolved the question of whether CBFB contributes directly to CCAAT-motif recognition or acts only as a cofactor.

    Evidence Recombinant protein reconstitution and EMSA showing CBF-C (CBFβ) is required with CBF-A and CBF-B to form the CBF-DNA complex

    PMID:7878029

    Open questions at the time
    • Exact DNA-contact residues of CBFβ not mapped
    • Role in vivo not yet established
  2. 1996 High

    Identification of the histone-fold motif as the structural basis for CBFβ heterodimerization and demonstration that CBFβ harbors a transcriptional activation domain defined how each subunit contributes to CBF function.

    Evidence Cross-linking, mutagenesis, yeast two-hybrid, and in vitro transcription with purified deletion mutants

    PMID:8662945 PMID:8754798

    Open questions at the time
    • Crystal structure of the heterotrimer not yet available
    • In vivo relevance of each activation domain not tested
  3. 1996 High

    The Cbfb-MYH11 knock-in mouse proved that the fusion protein acts as a dominant-negative for CBF-dependent hematopoiesis, establishing its causal role in leukemogenesis.

    Evidence Knock-in mouse with heterozygous Cbfb-MYH11 phenocopying Cbfb and Cbfa2 nulls — lethal hemorrhage, absent definitive hematopoiesis

    PMID:8929537

    Open questions at the time
    • Mechanism of dominant-negative action (sequestration vs. active repression) not resolved
    • Additional cooperating mutations for full leukemia not defined
  4. 2002 High

    Mapping Cbfb expression across the hematopoietic hierarchy revealed its requirement at the stem/progenitor level and showed Cbfb-MYH11 eliminates this population, pinpointing the cellular target of the fusion.

    Evidence Cbfb-GFP knock-in reporter combined with flow cytometry in embryonic and adult hematopoietic cells

    PMID:12239155

    Open questions at the time
    • Whether Cbfb has distinct functions in lymphoid vs. myeloid lineages not resolved
    • Dose-dependence of Cbfb in stem cell self-renewal unknown
  5. 2005 High

    Discovery that CBFβ-SMMHC suppresses CEBPA protein through calreticulin-mediated translational inhibition identified a RUNX-independent oncogenic mechanism of the fusion.

    Evidence Conditional expression in U937 cells, Western blot, siRNA knockdown of calreticulin restoring CEBPA

    PMID:15855281

    Open questions at the time
    • Whether calreticulin induction is direct or indirect not clarified
    • Relevance to non-hematopoietic contexts unknown
  6. 2007 High

    Demonstrating that CBFβ stabilizes RUNX2 by reducing its ubiquitin-mediated proteasomal degradation established protein stabilization as a core mechanism through which CBFβ promotes osteogenic differentiation.

    Evidence Ubiquitination assays and overexpression in mesenchymal stem cells with osteogenic differentiation readouts

    PMID:17379770

    Open questions at the time
    • Identity of the E3 ligase counteracted by CBFβ not determined
    • Whether the same stabilization mechanism applies to RUNX1 and RUNX3 not directly tested
  7. 2009 High

    Genetic epistasis revealed that Cbfb-MYH11 causes hematopoietic defects independent of RUNX1 repression, broadening the fusion's oncogenic mechanism beyond simple dominant-negative CBF inhibition.

    Evidence Comparison of Cbfb-MYH11 knock-in with Cbfb and Runx1 knockouts showing distinct gene expression changes (Gata2, Il1rl1, Csf2rb)

    PMID:20007544

    Open questions at the time
    • Molecular basis for RUNX1-independent activities not defined
    • Direct fusion protein targets mediating these effects unknown
  8. 2013 High

    Genome-wide binding and interactome analyses of CBFβ-MYH11 showed it co-occupies RUNX1 target promoters, interacts with hematopoietic transcription factors and chromatin regulators, and maintains self-renewal gene expression rather than globally repressing RUNX1 targets.

    Evidence ChIP-seq, quantitative interaction proteomics (mass spectrometry), and RNA-seq upon fusion knockdown in leukemia cells

    PMID:24002588

    Open questions at the time
    • Which chromatin remodeling complexes are essential for fusion-driven transcription not established
    • Whether the fusion redirects vs. maintains pre-existing RUNX1 programs unclear
  9. 2015 High

    Conditional deletion of Cbfb in mesenchymal cells confirmed that CBFβ stabilizes all three RUNX proteins at the post-translational level in vivo, causing dwarfism and impaired skeletal development.

    Evidence Cbfb conditional knockout (Dermo1-Cre), protein and mRNA analysis showing reduced RUNX protein without mRNA change

    PMID:25262822

    Open questions at the time
    • Relative contribution of RUNX1 vs. RUNX2 vs. RUNX3 stabilization to each skeletal phenotype not separated
  10. 2015 High

    Loss of Runx1 delayed Cbfb-MYH11-induced leukemia, proving that RUNX1 activity is paradoxically required for leukemogenesis driven by the fusion.

    Evidence Genetic epistasis combining Cbfb-MYH11 knock-in with Runx1 null or dominant-negative alleles; leukemia latency analysis

    PMID:25742748

    Open questions at the time
    • Whether residual Runx2/Runx3 compensate for Runx1 loss not assessed
    • Mechanism by which Runx1 enables fusion-driven transformation not defined
  11. 2019 High

    Discovery of a noncanonical cytoplasmic role for CBFβ in translational regulation — binding mRNAs via hnRNPK and promoting translation through eIF4B — fundamentally expanded CBFβ function beyond transcription.

    Evidence RIP-seq identifying hundreds of CBFβ-bound mRNAs, polysome profiling, co-immunoprecipitation of CBFβ-hnRNPK-eIF4B in breast cancer cells

    PMID:31061501

    Open questions at the time
    • Structural basis of CBFβ-RNA interaction unknown
    • Whether cytoplasmic CBFβ function is conserved across all cell types not established
  12. 2019 High

    Cbfb was shown to be required for anterior palatogenesis through a Runx1/Cbfb-Stat3-Tgfb3 axis, linking CBFβ loss to cleft palate and identifying folic acid rescue via Stat3 activation.

    Evidence Conditional Cbfb knockout mice with cleft palate, reduced Stat3 phosphorylation and Tgfb3 expression, folic acid and Tgfb3 rescue experiments

    PMID:31171577

    Open questions at the time
    • Direct vs. indirect mechanism of Stat3 activation by RUNX1/CBFβ not resolved
    • Relevance to human cleft palate genetics not confirmed
  13. 2021 High

    Demonstration that CBFB-MYH11 disrupts the RUNX1-DNMT3A interaction, causing DNA hypomethylation at RUNX1 target loci, connected the fusion to epigenetic dysregulation analogous to DNMT3A loss-of-function.

    Evidence Co-immunoprecipitation of RUNX1-DNMT3A, bisulfite sequencing showing hypomethylation, mutual exclusivity of CBFB-MYH11 and DNMT3A mutations in patients

    PMID:34336831

    Open questions at the time
    • Whether CBFβ itself is needed for the RUNX1-DNMT3A interaction not tested
    • Genome-wide methylation consequences in primary leukemia not fully mapped
  14. 2023 High

    Identification of CBFβ in mitochondria where it promotes mitochondrial genome translation by enhancing mRNA binding to TUFM revealed a third subcellular compartment of CBFβ function and linked its loss to defective oxidative phosphorylation and metabolic reprogramming.

    Evidence Subcellular fractionation, co-immunoprecipitation of CBFβ-TUFM-mitochondrial mRNAs, metabolic assays in mouse tumor models and patient-derived xenografts

    PMID:36799863

    Open questions at the time
    • Mechanism of CBFβ import into mitochondria not defined
    • Relative contribution of mitochondrial vs. nuclear/cytoplasmic CBFβ to tumor suppression not quantified
  15. 2023 High

    Proximity proteomics defined the mechanism of RUNX1 cytoplasmic sequestration by CBFβ-MYH11 — the MYH11 moiety interacts with cytoplasmic myosin-related proteins to form aggregates, with compensatory upregulation of RUNX1/2 transcription.

    Evidence TurboID proximity biotinylation in primary murine hematopoietic cells, validated by immunofluorescence and subcellular fractionation in primary human AML samples

    PMID:38061017

    Open questions at the time
    • Whether preventing aggregate formation rescues leukemia phenotype not tested
    • Specific myosin interactors mediating aggregation not fully characterized

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include how CBFβ is partitioned among nuclear, cytoplasmic, and mitochondrial pools, the structural basis of its RNA-binding activity, and whether therapeutic disruption of CBFβ-RUNX interaction or CBFβ-MYH11 aggregation is achievable.
  • No structural model of CBFβ bound to mRNA or mitochondrial mRNA-TUFM complex
  • Mechanism governing subcellular distribution of CBFβ unknown
  • Therapeutic targeting of the CBFβ-MYH11 fusion protein not yet validated

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 4 GO:0003723 RNA binding 2 GO:0045182 translation regulator activity 2 GO:0098772 molecular function regulator activity 2
Localization
GO:0005634 nucleus 3 GO:0005829 cytosol 2 GO:0005739 mitochondrion 1
Pathway
R-HSA-1643685 Disease 5 R-HSA-74160 Gene expression (Transcription) 5 R-HSA-1266738 Developmental Biology 4 R-HSA-392499 Metabolism of proteins 4 R-HSA-1430728 Metabolism 1
Partners
CHD7DNMT3AEIF4BHNRNPKRUNX1RUNX2RUNX3TUFM
Complex memberships
CBFβ-RUNX1 heterodimerCBFβ-RUNX2 heterodimerCore Binding Factor (CBF/NF-Y heterotrimer)

Evidence

Reading pass · 24 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 CBF-C (encoded by CBFB) is required together with CBF-A and CBF-B to form a CBF-DNA complex binding to CCAAT motifs; CBF-A and CBF-C interact to form a heterodimer, and CBF-B does not interact individually with either subunit but associates with the CBF-A/CBF-C complex. Recombinant protein reconstitution, electrophoretic mobility shift assay (EMSA), immunoprecipitation Proceedings of the National Academy of Sciences of the United States of America High 7878029
1996 CBF-B interacts simultaneously with both CBF-A and CBF-C subunits to form a heterotrimeric CBF molecule; the histone-fold motif of CBF-C (similar to histone H2A) is necessary for CBF-DNA complex formation and for interaction with CBF-A, and two separate CBF-B interaction domains were identified flanking the CBF-A interaction domain in CBF-C. Cross-linking, immunoprecipitation, mutational analysis, in vitro binding assays, yeast two-hybrid Molecular and cellular biology High 8754798
1996 The heterotrimeric CBF (NF-Y) transcription factor has two distinct transcriptional activation domains: one in the CBF-B subunit (N-terminal residues 1–224) and one in the CBF-C subunit (C-terminal residues 114–309), and these two domains act additively to stimulate transcription. In vitro transcription reconstitution with purified recombinant CBF subunits and deletion mutants in nuclear extracts depleted of CBF The Journal of biological chemistry High 8662945
1996 The CBFB-MYH11 fusion oncogene acts as a dominant negative for CBF function: embryos heterozygous for Cbfb-MYH11 knock-in lack definitive hematopoiesis and develop fatal hemorrhages, a phenotype similar to homozygous deletion of Cbfb or Cbfa2 (AML1), indicating dominant negative suppression of CBF-dependent hematopoiesis. Knock-in mouse model (homologous recombination), embryonic analysis Cell High 8929537
1996 The CBFB-MYH11 fusion protein (CBFβ-SMMHC) is produced in leukemic cells, is located primarily in the nuclei, and forms a very high molecular weight protein-DNA complex in nuclear extracts as detected by EMSA; immunofluorescence shows the fusion protein organizes into novel structures within cell nuclei. Western blot with anti-CBFB and anti-MYH11 C-terminus antibodies, immunofluorescence, EMSA with nuclear extracts from patient cells Genes, chromosomes & cancer High 8818654
2001 In vitro studies demonstrated that expression of CBFB-MYH11 leads to sequestration of CBFα2 (RUNX1) in the cytoplasm, inhibits CBF-mediated transactivation, slows cell cycle progression, delays the apoptotic response to DNA-damaging agents, and protects CBFα2 from degradation. Review summarizing in vitro cell-based assays (transfection, transactivation reporter, cell cycle analysis, apoptosis assays) Current opinion in hematology Medium 11561156
2002 Cbfb is expressed in hematopoietic stem and progenitor cells in midgestation embryos and in adult stem/progenitor as well as mature myeloid and lymphoid cells, but not during terminal erythropoiesis; Cbfb-MYH11 blocks embryonic hematopoiesis at the stem-progenitor cell level by eliminating this population. Cbfb-GFP knock-in mouse model, flow cytometry, comparison with Cbfb-MYH11 knock-in mice Blood High 12239155
2003 Cbfb is required for the functions of Runx1 and Runx2 in skeletal development; Runx2/Cbfb heterodimers play essential roles in osteoblast differentiation and chondrocyte maturation. Genetic analysis of Cbfb-deficient mice with partial hematopoietic rescue, phenotypic analysis of skeletal development Journal of bone and mineral metabolism Medium 12811622
2005 CBFB-SMMHC (CBFβ-SMMHC) suppresses CEBPA protein expression and binding activity without altering CEBPA mRNA levels by inducing calreticulin, an inhibitor of CEBPA translation; siRNA knockdown of calreticulin restored CEBPA levels. Conditional expression system (U937 cells), Western blot, EMSA, siRNA knockdown, patient sample analysis Blood High 15855281
2007 Cbfb enhances osteogenic differentiation of mesenchymal stem cells induced by Cbfa-1 (RUNX2) by reducing ubiquitination-mediated proteasomal degradation of RUNX2, thereby increasing RUNX2 protein stability. Adenoviral overexpression, alkaline phosphatase activity assay, osteocalcin measurement, ubiquitination assay in C3H10T1/2 and human MSCs Stem cells (Dayton, Ohio) High 17379770
2009 Cbfb-MYH11 causes hematopoietic defects (delayed differentiation with sustained expression of Gata2, Il1rl1, and Csf2rb) that are independent of Cbfb/Runx1 repression, indicating the fusion protein has RUNX1-repression-independent leukemogenic activities. Knock-in mouse model, gene expression analysis, comparison with Cbfb and Runx1 knockout phenotypes Blood High 20007544
2009 GATA-1 represses Cbfb transcription in erythroleukemia cells by co-occupying PU.1 binding sites near the Cbfb locus; activation of PU.1 or knockdown of GATA-1 derepresses Cbfb expression with accompanying increases in H3K9 acetylation at the Cbfb locus. Conditional PU.1 activation (PUER), siRNA knockdown of GATA-1, chromatin immunoprecipitation (ChIP), reporter assays, gene expression arrays Molecular cancer research : MCR High 19825991
2013 CBFβ-MYH11 localizes to RUNX1-occupied promoters genome-wide and interacts with TAL1, FLI1, TBP-associated factors (TAFs), ERG, GATA2, PU.1, EP300, and HDAC1; the fusion protein maintains active transcription of self-renewal genes (ID1, LMO1, JAG1) and represses only a subset of RUNX1 target genes. Genome-wide ChIP-seq, quantitative interaction proteomics (mass spectrometry), RNA-seq upon fusion protein knockdown Leukemia High 24002588
2015 Cbfb stabilizes Runx1, Runx2, and Runx3 proteins in skeletal cells; conditional deletion of Cbfb in mesenchymal cells led to reduced Runx family protein levels (without corresponding mRNA reduction) and decreased Runx2 protein stability, causing dwarfism, impaired ossification, and inhibited chondrocyte and osteoblast differentiation. Conditional knockout (Cbfb-floxed × Dermo1-Cre), protein/mRNA analysis, in vitro differentiation assays, promoter reporter assays Journal of bone and mineral research High 25262822
2015 Loss of Runx1 activity rescued the hematopoietic differentiation defects induced by Cbfb-MYH11 during primitive and definitive hematopoiesis, and significantly delayed Cbfb-MYH11-induced leukemia, demonstrating that Runx1 activity is critical for Cbfb-MYH11-induced leukemogenesis. Genetic epistasis — Cbfb-MYH11 knock-in combined with Runx1 null or dominant-negative alleles in mice, leukemia latency analysis Leukemia High 25742748
2017 p53 induced by RUNX1 depletion directly binds to the CBFB promoter and stimulates its transcription and translation; the resulting CBFB protein then stabilizes RUNX1, creating a compensatory RUNX1-p53-CBFB feedback loop in AML cells. Gene silencing (siRNA), chromatin immunoprecipitation, luciferase reporter assay, Western blot, patient sample analysis Scientific reports Medium 29192243
2017 CHD7 interacts with CBFβ-SMMHC through RUNX1, enhances transcriptional activity of RUNX1 and CBFβ-SMMHC on target genes (e.g., Csf1r), and Chd7 deficiency delayed Cbfb-MYH11-induced leukemia in mice. Co-immunoprecipitation, transcriptional reporter assay, conditional Chd7 knockout combined with Cbfb-MYH11 knock-in, RNA-seq Blood High 29018080
2019 CBFB has a noncanonical cytoplasmic role in translation regulation: cytoplasmic CBFB binds to hundreds of mRNA transcripts (including RUNX1 mRNA) via hnRNPK and enhances their translation through eIF4B; nuclear CBFB/RUNX1 complex transcriptionally represses NOTCH signaling in breast cancer. RNA immunoprecipitation followed by deep sequencing (RIP-seq), polysome profiling, co-immunoprecipitation, knockdown/rescue experiments Nature communications High 31061501
2019 In anterior palatogenesis, Cbfb acts as an obligatory cofactor for Runx1 in a Runx1/Cbfb-Stat3-Tgfb3 signaling axis; Cbfb mutant mice develop anterior cleft palate with disrupted TGFB3 expression and reduced Stat3 phosphorylation, and folic acid rescues the cleft by activating Stat3 and Tgfb3. Conditional Cbfb knockout mouse model, immunofluorescence, in vitro palatal fusion assay, TGFB3 rescue experiment, pharmaceutical Stat3 activation Disease models & mechanisms High 31171577
2021 CBFB-MYH11 fusion sequesters RUNX1 in the cytoplasm, preventing RUNX1 from interacting with and recruiting DNMT3A to RUNX1 target genes, resulting in DNA hypomethylation at those loci similar to DNMT3A loss-of-function; RUNX1 directly interacts with DNMT3A and this interaction is disrupted by CBFB-MYH11. Co-immunoprecipitation, methylation analysis (bisulfite sequencing), gene expression analysis, comparison with DNMT3A-inhibited cells, mutual exclusivity analysis in patient datasets Frontiers in cell and developmental biology High 34336831
2021 CBFB cooperates with p53 to maintain TAp73 expression as a shared transcriptional target; loss of either CBFB or p53 leads to TAp73 depletion, and TAp73 re-expression abrogates the tumorigenic effect of CBFB deletion in breast cancer. Integrated genomic analysis, gene expression experiments, ChIP, rescue experiments (TAp73 re-expression), xenograft mouse model, immunohistochemistry PLoS genetics High 33945523
2023 CBFB localizes to mitochondria and enhances the binding of mitochondrial mRNAs to TUFM (a mitochondrial translation elongation factor), thereby promoting mitochondrial genome translation; CBFB loss of function causes mitochondrial translation defects, leading to defective oxidative phosphorylation, the Warburg effect, and autophagy/mitophagy addiction. Subcellular fractionation showing mitochondrial CBFB localization, co-immunoprecipitation of CBFB with TUFM and mitochondrial mRNAs, proteomics interactome, metabolic assays, mouse tumor models, patient-derived xenografts Cancer research High 36799863
2023 The CBFB::MYH11 oncofusion protein sequesters RUNX1 in cytoplasmic aggregates via the CBFB domain interacting with the MYH11 domain that also binds cytoplasmic myosin-related proteins; this cytoplasmic sequestration is associated with increased RUNX1/2 transcription suggesting a feedback sensor for reduced functional RUNX1. TurboID proximity biotinylation proteomics in primary murine hematopoietic cells, immunofluorescence, subcellular fractionation, validation in primary human AML cells The Journal of clinical investigation High 38061017
2020 miR-27b targets CBFB to inhibit differentiation of human bone marrow mesenchymal stem cells into hypertrophic chondrocytes; CBFB forms a complex with RUNX2, and CBFB knockdown by shRNA increases COL2/SOX9 expression while decreasing COL10/RUNX2 levels. Luciferase reporter assay (CBFB 3'-UTR), co-immunoprecipitation (CBFB-RUNX2 complex), shRNA knockdown, in vivo cartilage repair model Stem cell research & therapy High 32917285

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1995 Recombinant rat CBF-C, the third subunit of CBF/NFY, allows formation of a protein-DNA complex with CBF-A and CBF-B and with yeast HAP2 and HAP3. Proceedings of the National Academy of Sciences of the United States of America 253 7878029
1996 Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. Cell 248 8929537
2018 Long Noncoding RNA LINC01234 Functions as a Competing Endogenous RNA to Regulate CBFB Expression by Sponging miR-204-5p in Gastric Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 184 29386218
2003 Requisite roles of Runx2 and Cbfb in skeletal development. Journal of bone and mineral metabolism 170 12811622
1996 Determination of functional domains in the C subunit of the CCAAT-binding factor (CBF) necessary for formation of a CBF-DNA complex: CBF-B interacts simultaneously with both the CBF-A and CBF-C subunits to form a heterotrimeric CBF molecule. Molecular and cellular biology 130 8754798
2018 Circular RNA circ-CBFB promotes proliferation and inhibits apoptosis in chronic lymphocytic leukemia through regulating miR-607/FZD3/Wnt/β-catenin pathway. Biochemical and biophysical research communications 113 29902450
2004 Identification of genes that synergize with Cbfb-MYH11 in the pathogenesis of acute myeloid leukemia. Proceedings of the National Academy of Sciences of the United States of America 111 15044690
2004 Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11. Blood 111 15585652
2009 Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer. British journal of cancer 96 19156145
2005 CBFB-SMMHC is correlated with increased calreticulin expression and suppresses the granulocytic differentiation factor CEBPA in AML with inv(16). Blood 80 15855281
1998 Inversion of chromosome 16 and uncommon rearrangements of the CBFB and MYH11 genes in therapy-related acute myeloid leukemia: rare events related to DNA-topoisomerase II inhibitors? Journal of clinical oncology : official journal of the American Society of Clinical Oncology 75 9586906
1995 Detection of CBFB/MYH11 transcripts in patients with inversion and other abnormalities of chromosome 16 at presentation and remission. British journal of haematology 75 7577615
2015 Cbfb regulates bone development by stabilizing Runx family proteins. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 74 25262822
2020 CBFB-MYH11 fusion neoantigen enables T cell recognition and killing of acute myeloid leukemia. The Journal of clinical investigation 71 32831296
2019 The transcription factor CBFB suppresses breast cancer through orchestrating translation and transcription. Nature communications 70 31061501
1996 The transcriptional activity of the CCAAT-binding factor CBF is mediated by two distinct activation domains, one in the CBF-B subunit and the other in the CBF-C subunit. The Journal of biological chemistry 70 8662945
2013 CBFB-MYH11/RUNX1 together with a compendium of hematopoietic regulators, chromatin modifiers and basal transcription factors occupies self-renewal genes in inv(16) acute myeloid leukemia. Leukemia 68 24002588
2005 Frequent downregulation of the runt domain transcription factors RUNX1, RUNX3 and their cofactor CBFB in gastric cancer. International journal of cancer 65 15386419
1995 RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts. Blood 60 7795233
2004 Mechanism of leukemogenesis by the inv(16) chimeric gene CBFB/PEBP2B-MHY11. Oncogene 55 15156186
1996 Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells. Genes, chromosomes & cancer 55 8818654
2018 CSF3R Mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia. Cancer 54 29932212
2015 MicroRNA-145 regulates osteoblastic differentiation by targeting the transcription factor Cbfb. FEBS letters 47 26450370
2015 Runx1 is required for hematopoietic defects and leukemogenesis in Cbfb-MYH11 knock-in mice. Leukemia 46 25742748
2002 Role of Cbfb in hematopoiesis and perturbations resulting from expression of the leukemogenic fusion gene Cbfb-MYH11. Blood 46 12239155
2011 KIT with D816 mutations cooperates with CBFB-MYH11 for leukemogenesis in mice. Blood 43 22160378
2007 Rare CBFB-MYH11 fusion transcripts in AML with inv(16)/t(16;16) are associated with therapy-related AML M4eo, atypical cytomorphology, atypical immunophenotype, atypical additional chromosomal rearrangements and low white blood cell count: a study on 162 patients. Leukemia 43 17287858
2009 Cbfb/Runx1 repression-independent blockage of differentiation and accumulation of Csf2rb-expressing cells by Cbfb-MYH11. Blood 42 20007544
2012 inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations. Blood 37 23160462
2000 Zebrafish homolog of the leukemia gene CBFB: its expression during embryogenesis and its relationship to scl and gata-1 in hematopoiesis. Blood 36 11110689
2017 Autonomous feedback loop of RUNX1-p53-CBFB in acute myeloid leukemia cells. Scientific reports 29 29192243
2001 Detection and quantification of CBFB/MYH11 fusion transcripts in patients with inv(16)-positive acute myeloblastic leukemia by real-time RT-PCR. Genes, chromosomes & cancer 29 11241787
2020 circ-CBFB upregulates p66Shc to perturb mitochondrial dynamics in APAP-induced liver injury. Cell death & disease 27 33159035
2001 Function of the inv(16) fusion gene CBFB-MYH11. Current opinion in hematology 26 11561156
2021 Circular RNA_0062582 promotes osteogenic differentiation of human bone marrow mesenchymal stem cells via regulation of microRNA-145/CBFB axis. Bioengineered 25 34027799
2017 Chd7 deficiency delays leukemogenesis in mice induced by Cbfb-MYH11. Blood 25 29018080
2006 Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. American journal of medical genetics. Part A 25 17022082
2002 Minimal residual disease quantification in patients with acute myeloid leukaemia and inv(16)/CBFB-MYH11 gene fusion. British journal of haematology 25 12139724
2017 Myeloid neoplasms with concurrent BCR-ABL1 and CBFB rearrangements: A series of 10 cases of a clinically aggressive neoplasm. American journal of hematology 24 28253536
2009 PU.1 activation relieves GATA-1-mediated repression of Cebpa and Cbfb during leukemia differentiation. Molecular cancer research : MCR 24 19825991
2007 Cbfb enhances the osteogenic differentiation of both human and mouse mesenchymal stem cells induced by Cbfa-1 via reducing its ubiquitination-mediated degradation. Stem cells (Dayton, Ohio) 24 17379770
2017 AML associated oncofusion proteins PML-RARA, AML1-ETO and CBFB-MYH11 target RUNX/ETS-factor binding sites to modulate H3ac levels and drive leukemogenesis. Oncotarget 21 28030795
2004 Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenital anomalies 21 15566413
2021 The p53/miR-145a Axis Promotes Cellular Senescence and Inhibits Osteogenic Differentiation by Targeting Cbfb in Mesenchymal Stem Cells. Frontiers in endocrinology 20 33505358
2019 IL1RL1 is dynamically expressed on Cbfb-MYH11+ leukemia stem cells and promotes cell survival. Scientific reports 20 30742053
2006 Granulocytic sarcoma of mesentery in acute myeloid leukemia with CBFB/MYH11 fusion gene but not inv(16) chromosome: case report and review of literature. Leukemia research 20 16504290
2001 Identification of a novel CBFB-MYH11 transcript: implications for RT-PCR diagnosis. The hematology journal : the official journal of the European Haematology Association 20 11920247
1995 Structure of the leukemia-associated human CBFB gene. Genomics 20 7607682
2010 Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3'CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review. Cancer genetics and cytogenetics 19 20513535
2017 Clinical Relevance of RUNX1 and CBFB Alterations in Acute Myeloid Leukemia and Other Hematological Disorders. Advances in experimental medicine and biology 18 28299658
2006 CBFB-MYH11 hinders early T-cell development and induces massive cell death in the thymus. Blood 18 17185462
2020 Myeloid Sarcoma With CBFB-MYH11 Fusion (inv(16) or t(16;16)) Prevails in the Abdomen. American journal of clinical pathology 17 31671434
2020 MicroRNA-27b targets CBFB to inhibit differentiation of human bone marrow mesenchymal stem cells into hypertrophic chondrocytes. Stem cell research & therapy 17 32917285
2000 CBFB/MYH11 fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16. Genes, chromosomes & cancer 17 10959099
2019 Gata2 deficiency delays leukemogenesis while contributing to aggressive leukemia phenotype in Cbfb-MYH11 knockin mice. Leukemia 16 31624376
2015 Acute myeloid leukaemia (FAB AML-M4Eo) with cryptic insertion of cbfb resulting in cbfb-Myh11 fusion. Hematological oncology 16 28906004
2021 CBFB-MYH11 Fusion Sequesters RUNX1 in Cytoplasm to Prevent DNMT3A Recruitment to Target Genes in AML. Frontiers in cell and developmental biology 14 34336831
2009 Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits. Cancer genetics and cytogenetics 14 19215788
2004 Deletion of CBFB in a patient with acute myelomonocytic leukemia (AML M4Eo) and inversion 16. Cancer genetics and cytogenetics 14 15381374
2021 CBFB cooperates with p53 to maintain TAp73 expression and suppress breast cancer. PLoS genetics 13 33945523
2006 Detection of the CBFB/MYH11 fusion gene in de novo acute myeloid leukemia (AML): a single-institution study of 224 Japanese AML patients. Leukemia research 13 17052753
1996 The gene product of CBFB-MYH11. Leukemia 12 8751466
2023 Dysregulation of Mitochondrial Translation Caused by CBFB Deficiency Cooperates with Mutant PIK3CA and Is a Vulnerability in Breast Cancer. Cancer research 11 36799863
2022 Circ-CBFB exacerbates hypoxia/reoxygenation-triggered cardiomyocyte injury via regulating miR-495-3p in a VDAC1-dependent manner. Journal of biochemical and molecular toxicology 11 35920438
2022 Different Requirements of CBFB and RUNX2 in Skeletal Development among Calvaria, Limbs, Vertebrae and Ribs. International journal of molecular sciences 11 36362086
2019 Anterior cleft palate due to Cbfb deficiency and its rescue by folic acid. Disease models & mechanisms 11 31171577
2019 RUNX2/CBFB modulates the response to MEK inhibitors through activation of receptor tyrosine kinases in KRAS-mutant colorectal cancer. Translational oncology 11 31865182
2014 CBFB-MYH11 hypomethylation signature and PBX3 differential methylation revealed by targeted bisulfite sequencing in patients with acute myeloid leukemia. Journal of hematology & oncology 11 25266220
2023 Proteogenomic analysis reveals cytoplasmic sequestration of RUNX1 by the acute myeloid leukemia-initiating CBFB::MYH11 oncofusion protein. The Journal of clinical investigation 10 38061017
2013 Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology. Human pathology 10 24342433
2022 Comprehensive Mutation Profile in Acute Myeloid Leukemia Patients with RUNX1-RUNX1T1 or CBFB-MYH11 Fusions. Turkish journal of haematology : official journal of Turkish Society of Haematology 9 35445594
2000 Deletion of 3'-CBFB gene in association with an inversion (16)(p13q22) and a loss of the Y chromosome in a 2-year-Old child with acute myelogenous leukemia-M4. Cancer genetics and cytogenetics 9 11063812
2008 Banding and molecular cytogenetic studies detected a CBFB-MYH11 fusion gene that appeared as abnormal chromosomes 1 and 16 in a baby with acute myeloid leukemia FAB M4-Eo. Cancer genetics and cytogenetics 8 18328953
2002 Chromosome 16 inversion-associated translocations in acute myeloid leukemia elucidated using a dual-color CBFB DNA probe. Cancer genetics and cytogenetics 8 12034528
2023 Characterization of leukemia progression in the Cbfb-MYH11 knockin mice by single cell RNA sequencing. Leukemia 7 37225965
2020 Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5'MYH11/3'CBFB gene fusion: a report of two cases and literature review. Molecular cytogenetics 7 32015759
2020 De Novo Acute Myeloid Leukemia with Combined CBFB-MYH11 and BCR-ABL1 Gene Rearrangements: A Case Report and Review of Literature. Case reports in hematology 7 33489389
2014 Runx/Cbfb signaling regulates postnatal development of granular convoluted tubule in the mouse submandibular gland. Developmental dynamics : an official publication of the American Association of Anatomists 7 25410786
2023 Multiple roles of LncRNA-BMNCR on cell proliferation and apoptosis by targeting miR-145/CBFB axis in BMECs. The veterinary quarterly 6 37807922
2022 Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia. Journal of medical genetics 6 36241386
2021 CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management. Cancers 6 34771519
2020 The transcription factor CBFB mutations indicate an improved survival in HR+/HER2- breast cancer. Gene 6 32711101
1996 CBFB/MYH11 fusion transcripts in a case of acute myelogenous leukemia (M1) with partial deletion of the long arm of chromosome 16. Internal medicine (Tokyo, Japan) 6 8739792
2022 Cancer-Associated Exosomal CBFB Facilitates the Aggressive Phenotype, Evasion of Oxidative Stress, and Preferential Predisposition to Bone Prometastatic Factor of Breast Cancer Progression. Disease markers 5 35903297
2007 Gain of multiple copies of the CBFB gene: a new genetic aberration in a case of granulocytic sarcoma. Cancer genetics and cytogenetics 5 17981216
1996 Clinical aspects of expression of inversion 16 chromosomal fusion transcript CBFB/MYH11 in acute myelogenous leukemia subtype M1 with abnormal bone marrow eosinophilia. Leukemia 5 8847901
2025 Clinical characteristics and therapeutic determinants of RUNX1::RUNX1T1 differ from those of CBFB::MYH11 acute myeloid leukemia. Haematologica 4 40304077
2022 3'CBFB deletion in CBFB-rearranged acute myeloid leukemia retains morphological features associated with inv(16), but patients have higher risk of relapse and may require stem cell transplant. Annals of hematology 3 35184217
2020 Sustained Complete Remission with Incomplete Hematologic Recovery (CRi) in a Patient with Relapsed AML and Concurrent BCR-ABL1 and CBFB Rearrangement Treated with a Combination of Venetoclax and 5-Azacytidine. Chemotherapy 3 32570264
2024 Integrative immunophenotypic and genetic characterization of acute myeloid leukemia with CBFB rearrangement. American journal of clinical pathology 2 38801226
2023 Autophagy Inhibition as a Potential Therapeutic Strategy for Breast Cancer with Mitochondrial Translation Defect Caused by CBFB-Deficiency. Autophagy 2 37115099
2022 CircRIP2 aggravates the deterioration of colorectal carcinoma by negatively regulating CBFB. European review for medical and pharmacological sciences 2 35647832
2022 Molecular dissection of a hyper-aggressive CBFB-MYH11/FLT3-ITD-positive acute myeloid leukemia. Journal of translational medicine 2 35794567
2015 Therapy-related leukemia with Inv(16)(p13.1q22) and type D CBFB/MYH11 developing after exposure to irinotecan-containing chemoradiotherapy. Internal medicine (Tokyo, Japan) 2 25786458
2006 Diagnosis and monitoring of CBFB-MYH11-positive acute myeloid leukemia by qualitative and quantitative RT-PCR. Methods in molecular medicine 2 16502584
2025 A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia. Clinical genetics 1 39894570
2025 A Case of Cryptic CBFB::MYH11 Acute Myeloid Leukemia With Noncanonical Breakpoints Detected by Optical Genome Mapping. Journal of the National Comprehensive Cancer Network : JNCCN 1 40345240
2025 Unfavorable disease progression in patients with chronic myeloid leukemia and concurrent t(6;9) translocation (DEK::NUP214 fusion) or inversion 16 (CBFB::MYH11 fusion). Cancer genetics 1 40882571
2022 Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia. Cancer genetics 1 35613501
2022 PPP1R7 Is a Novel Translocation Partner of CBFB via t(2;16)(q37;q22) in Acute Myeloid Leukemia. Genes 1 36011278