Recombinant Human Runt-related transcription factor 1 (Runx1)

1. In this study, the presence of clonal heterogeneity and impaired FCM-MRD clearance among ETV6/RUNX1-positive patients, ultimately influenced prognosis. PMID: 29778230
2. Results show that Runx1 associates with c-Abl kinase through its C-terminal inhibitory domain which directly binds to c-Abl. Also, Runx1 is phosphorylated by c-Abl kinase modulating its transcriptional activity and megakaryocyte maturation. PMID: 29730354
3. DEGs and pathways identified in the present study will help understand the molecular mechanisms underlying RUNX1 mutations in AML and develop effective therapeutic strategies for RUNX1-mutation AML. PMID: 30289875
4. RUNX1 regulates ITGA6 through a consensus RUNX1 binding motif in its promoter PMID: 28926098
5. Loss of RUNX1 resulted in enhanced proliferation, migration, and invasion of lung adenocarcinomas PMID: 28926105
6. Ezh2 and Runx1 mutations collaborate to initiate lympho-myeloid leukemia in early thymic progenitors PMID: 29438697
7. miR-144 mimics can inhibit the proliferation and migration of ovarian cancer cells though regulating the expression of RUNX1. PMID: 29445078
8. The effect of FENDRR on cell proliferation, apoptosis and invasion and migration ability in protate cancer cells was suppressed by silence of RUNX1. PMID: 29465000
9. KSRP, miR-129, and RUNX1 participate in a regulatory axis to control the outcome of myeloid differentiation. PMID: 29127290
10. PKM2 as a novel target of RUNX1-ETO and is specifically downregulated in RUNX1-ETO positive AML patients, indicating that PKM2 level might have a diagnostic potential in RUNX1-ETO associated AML. PMID: 28092997
11. specific type of RUNX1 mutation did not affect its association pattern with trisomy 21 PMID: 29249799
12. High RUNX1 expression is associated with prostatic cancer. PMID: 29328406
13. RUNX1 Mutation is associated with acute myeloid leukemia. PMID: 29479958
14. The specific association of ZBTB7A mutations with t(8;21) rearranged acute myeloid leukaemia points towards leukemogenic cooperativity between mutant ZBTB7A and the RUNX1/RUNX1T1 fusion protein has been reported. PMID: 27252013
15. miR-216a-3p can promote gastric cancer cell proliferation, migration, and invasion via targeting RUNX1 and activating the NF-kappaB signaling pathway PMID: 28835317
16. the t(5;21)(p15;q22) translocation could be identified only when what had seemed like a del(21)(qq) in G-banded preparations was examined using FISH and RNA-sequencing directed at finding out what lay behind the 21q-. PMID: 29672642
17. Our findings show the profound impact of RUNX1 allele dosage on gene expression profile and glucocorticoid sensitivity in AML, thereby opening opportunities for preclinical testing which may lead to drug repurposing and improved disease characterization. PMID: 28855357
18. This study established inducible RUNX1b/c-overexpressing human embryonic stem cell (hESC) lines, in which RUNX1b/c overexpression prevented the emergence of CD34+ cells from early stage, thereby drastically reducing the production of hematopoietic stem/progenitor cells. Simultaneously, the expression of hematopoiesis-related factors was downregulated. PMID: 28992293
19. Genome-engineered hPSCs expressing ETV6-RUNX1 from the endogenous ETV6 locus show expansion of the CD19(-)IL-7R(+) compartment PMID: 29290585
20. our study demonstrated that specific bone marrow abnormalities and acquired genetic alterations may be harbingers of progression to hematological malignancies in patients with familial platelet disorder with germline RUNX1 mutation. PMID: 28659335
21. These studies provide the first evidence in patients with a RUNX1 mutation for a defect in AH (lysosomal) secretion, and for a global defect in secretion involving all three types of platelet granules that is unrelated to a granule content deficiency. They highlight the pleiotropic effects and multiple platelet defects associated with RUNX1 mutations. PMID: 28662545
22. Younger mRUNX1 AML patients treated with intensive chemotherapy experienced inferior treatment outcomes. In older patients with AML treated with hypomethylating agent (HMA) therapy, response and survival was independent of RUNX1 status. Older mRUNX1 patients with prior myelodysplastic syndrome or myeloproliferative neoplasms (MDS/MPN) had particularly dismal outcome PMID: 28933735
23. Data indicate miR-29b-1 as a regulator of the AML1-ETO protein (RUNX1-RUNX1T1), and that miR-29b-1 expression in t(8;21)-carrying leukemic cell lines partially rescues the leukemic phenotype. PMID: 28611288
24. EBPA and RUNX1 are expressed at higher levels in patients with acute myeloid leukemia in comparison to healthy subjects PMID: 28895127
25. The first characterization of this CASC15 in RUNX1-translocated leukemia. PMID: 28724437
26. Altogether, these results revealed an unexpected and important epigenetic mini-circuit of AML1-ETO/THAP10/miR-383 in t(8;21) acute myeloid leukaemia, in which epigenetic suppression of THAP10 predicts a poor clinical outcome and represents a novel therapeutic target. PMID: 28539478
27. Several studies addressed the mechanism by which ETV6/RUNX1 (E/R) contributes to leukemogenesis, including the necessary secondary genetic lesions, the cellular framework in which E/R initially arises and the maintenance of a pre-leukemic condition. [review] PMID: 28418909
28. MLD- and MLD+ RUNX1-mutated AML differ in some associations to genetic markers, such as +13 or IDH2 mutation status without prognostic impact in multivariate analysis. However, in RUNX1-mutated AML, the overall pattern shows a specific landscape with high incidences of trisomies (such as +8 and +13), and mutations in the spliceosome and in chromatin modifiers PMID: 27211269
29. RUNX1-RUNX1T1 transcript levels were measured in bone marrow samples collected from 208 patients at scheduled time points after transplantation.Over 90% of the 175 patients who were in continuous complete remission had a >/=3-log reduction in RUNX1-RUNX1T1 transcript levels from the time of diagnosis at each time point after transplantation and a >/=4-log reduction at >/=12 months. PMID: 28166825
30. RUNX1 defects causing haploinsufficiency are thought to be associated with a lower incidence of myeloid malignancies when compared to those patients with dominant-negative RUNX1 defects. PMID: 28277065
31. This result suggests that TET2(P1962T) mutation in association with germline RUNX1(R174Q) mutation leads to amplification of a haematopoietic clone susceptible to acquire other transforming alterations PMID: 27997762
32. Presence of fusion the genes BCR/ABL1, ETV6/RUNX1, and MLL/AF4 does not have any impact on the clinical and laboratory features of ALL at presentation. PMID: 26856288
33. ETV6/RUNX1 (+) ALL may be heterogeneous in terms of prognosis, and variables such as MRD at end ofremission induction or additional structural abnormalities of 12p could define a subset of patients who are likely to have poor outcome. PMID: 27506214
34. High RUNX1 expression is associated with lymphoma. PMID: 27056890
35. PLDN is a direct target of RUNX1 and its dysregulation is a mechanism for platelet dense granule deficiency associated with RUNX1 haplodeficiency PMID: 28075530
36. The here presented transcriptomic subgroup-based approach unified the gene expression profiles of RUNX1-CBFA2T3 and RUNX1-RUNX1T1 acute myeloid leukemia. PMID: 26968532
37. Platelet CD34 expression and alpha/delta-granule abnormalities in GFI1B- and RUNX1-related familial bleeding disorders. PMID: 28096094
38. We observed a strong correlation between EVI1 and alpha1, 6-fucosyltransferase (FUT8) in the chronic phase of the disease and both of them were found to be up-regulated with the progression of the disease. PMID: 27967290
39. A novel function of RUNX1 and offer an explanation for the link between RUNX1 mutations and chemotherapy and radiation resistance. Moreover, these data suggest that pharmacologic modulation of RUNX1 might be an attractive new approach to treat hematologic malignancies. PMID: 29055018
40. high EVI1 expression might predict high risk of relapse in AML patients undergoing myeloablative allo-HSCT in CR1. PMID: 27042849
41. Hypermethylation of the CTNNA1 promoter was associated with unfavorable karyotype, and possessed the higher frequency of coexisting with ASXL1 and RUNX1 mutations. PMID: 27129146
42. Three siblings with germline causative RUNX1 variant, developed acute myelomonocytic leukemia and acquired variants within the JAK-STAT pathway, specifically targeting JAK2 and SH2B3. PMID: 28513614
43. These findings suggest RUNX1high is a prognostic biomarker of unfavorable outcome in cytogenetically normal acute myeloid leukemia PMID: 26910834
44. 3 di ff erent heterozygous mutations segregated with thrombocytopenia in 3 families: one missense (c.578T > A/p.Ile193Asn) variant a ff ecting a well conserved residue of the runt-homologous domain, 2 nucleotide substitutions of the canonical "gt" dinucleotide in the donor splice sites of intron 4, (c.351 1 1G > A) and intron 8 (c.967 1 2_5del), and 2 alternative spliced products affecting the transactivation domain. PMID: 28240786
45. Here, we report the first identification of H3(K27M) and H3(K27I) mutations in patients with AML. We find that these lesions are major determinants of reduced H3K27me2/3 in these patients and that they are associated with common aberrations in the RUNX1 gene. PMID: 28855157
46. NPM1 mutation but not RUNX1 mutation or multilineage dysplasia defines a prognostic subgroup within de novo acute myeloid leukemia lacking recurrent cytogenetic abnormalities PMID: 28370403
47. phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation PMID: 28181366
48. ERG, FLI1, TAL1, and RUNX1 bind at all AML1-ETO-occupied regulatory regions, including those of the AML1-ETO gene itself, suggesting their involvement in regulating AML1-ETO expression levels. PMID: 27851970
49. Our work sheds light on the role of RUNX1 and the importance of dosage balance in the development of neural phenotypes in DS. PMID: 27618722
50. Studies showed a transient expression of RUNX1 during early mesendodermal differentiation of hESCs suggesting it contribution to differentiation in addition to the hematopoietic lineage identity. RUNX1 has a defined role in the epithelial to mesenchymal transition, and the associated competency for cell mobility and motility required for development of the mesendodermal germ layer. [review] PMID: 27591551

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HGNC: 10471

OMIM: 151385

KEGG: hsa:861

STRING: 9606.ENSP00000300305

UniGene: Hs.149261