Recombinant Human SET-binding protein (SETBP1), partial

1. Data indicate a SET binding protein 1 (SETBP1) function that directly affects gene transcription. PMID: 29875417
2. SETBP1 mutations were a rare molecular event in acute myeloid leukemia and myelodysplastic syndrome patients PMID: 29549983
3. we report here for the first time changes in the allele frequencies of CSF3R-T618I and SETBP1-G870S with response to ruxolitnib as well as insights into the clonal evolution of CNL under selective pressure from ruxolitinib. PMID: 28209656
4. we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with juvenile myelomonocytic leukemia, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1 PMID: 26980750
5. Patients with SETBP1 hotspot mutations suffered from aggressive disease with rapid evolution and inferior overall survival. Patients with SETBP1 non-hotspot mutations had less aggressive disease and a more favorable prognosis. PMID: 28913558
6. SETBP1 mutation is associated with chronic myelomonocytic leukemia. PMID: 28209919
7. Somatic c.2608G > A (p.Gly870Ser) in the SETBP1 gene identified in a patient with Fnaconi anemia. PMID: 28419882
8. Current evidence shows that SETBP1 mutation is associated with a poor prognosis in patients with MDS and CMML, but not in patients with chronic neutrophilic leukemia. PMID: 28158286
9. SETBP1 is a major oncogene in myeloid neoplasms, which cooperates with various genetic events and causes distinct phenotypes of myelodysplastic/myeloproliferative neoplasms and secondary acute myeloid leukemia. PMID: 28447248
10. Results indicate a genotype-phenotype correlation in germline SET binding protein 1 (SETBP1) mutations spanning a molecular, cellular and clinical phenotype. PMID: 28346496
11. AML with RUNX1/RUNX1T1 rearrangement displayed c.2903C>T alteration in the mutational hotspot of SETBP1. PMID: 25553291
12. Data describe a new recurrent chromosome translocation, t(12;18)(q14-q15;q12-21), in lipomas and osteochondrolipoma resulting in HMGA2-SETBP1 fusion which suggest a close developmental relationship between the two tumor types. PMID: 26202160
13. we described a patient not fulfilling the clinical criteria and showing mutation in SETBP1, we suggest that the facial gestalt associated with neurological involvement would be sufficient to indicate molecular analysis of this particular gene. PMID: 25663181
14. Correlation of myelodysplastic syndromes with i(17)(q10) and TP53 and SETBP1 mutations. PMID: 25716545
15. The SETBP1 and ASXL1 mutations have pathogenetic roles in CSF3R-mutated chronic neutrophilic leukemia. PMID: 25850813
16. SETBP1 mutation might not be involved in the leukemogenisis of acute lymphoblastic leukemia PMID: 24359242
17. SETBP1 mutations are critical drivers of ASXL1-mutated myelodysplastic syndrome. PMID: 25306901
18. mutation analysis of CSF3R, SETBP1 and CALR should be included in the diagnostic criteria for chronic neutrophilic leukemia PMID: 25316523
19. Low frequency of SETBP1 mutations have been found in 106 patients with therapy-related myeloid neoplasms. PMID: 24907359
20. Mutations in SETBP1 are associated with juvenile myelomonocytic leukemia. PMID: 25395418
21. In univariate analysis, survival was adversely affected by ASXL1 (nonsense and frameshift) but not SETBP1 mutations for chronic myelomonocytic leukemia. PMID: 24695057
22. SETBP1 mutations were found in 4.8% of patients with JMML in this study. PMID: 24117422
23. SETBP1 and SRSF2 are the most common somatic genetic abnormalities in patients with myeloid neoplasms carrying isochrmosome 17(q10), and may be important drivers of disease pathogenesis. PMID: 24796269
24. The SETBP1 mutation is associated with poor prognosis in MDS. The mutation can be acquired during the clinical course suggesting it may play a role in disease progression. PMID: 24127063
25. The data suggest that SETBP1 mutations may play a role in myelodysplastic syndromes and chronic myelomonocytic leukaemia disease progression. PMID: 23889083
26. SETBP1 mutation is associated with myelodysplastic syndromes and acute myeloid leukemia. PMID: 23648668
27. SETBP1 mutations are associated with chronic myelomonocytic leukemia. PMID: 23558523
28. CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. PMID: 23604229
29. SETBP1 mutations represent an important novel molecular marker, which is highly associated with aCML, the MDS/MPN overlap category and a dysplastic phenotype. PMID: 23628959
30. Mutations of SETBP1 and JAK3 were common recurrent secondary events presumed to be involved in tumor progression and were associated with poor clinical outcomes. PMID: 23832011
31. Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML. PMID: 23832012
32. In MDS and sAML, the rare mutations in SETBP1 might be associated with distinct cytogenetic aberrations involving chromosomes 3 and 7. PMID: 23443343
33. mutated SETBP1 represents a newly discovered oncogene present in Atypical chronic myeloid leukemia (aCML) and closely related diseases. PMID: 23222956
34. We describe a patient with a 18q12.3 microdeletion that causes the disruption of SETBP1 resulting in mild mental retardation and expressive speech impairment with striking discrepancy between expressive and receptive language skills. PMID: 22333924
35. study of 2 unrelated Thai patients with clinical manifestations fulfilling criteria of Schinzel-Giedion syndrome; demonstrate SETBP1 is gene responsible for SGS in Thai patients confirming previous report of this gene associated with SGS in Caucasians PMID: 21371013
36. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. PMID: 21037274
37. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four PMID: 20436468
38. Correction of X-linked chronic granulomatous disease by gene therapy was augmented by insertional activation of SETBP1. PMID: 16582916

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HGNC: 15573

OMIM: 269150

KEGG: hsa:26040

STRING: 9606.ENSP00000282030

UniGene: Hs.435458