Recombinant Human Putative Polycomb group protein ASXL1 (ASXL1), partial

1. Mutant ASXL1 cooperates with BAP1 to promote myeloid leukemogenesis. PMID: 30013160
2. Identification of driver and subclonal mutations in ASXL1 and IDH1/IDH2 genes in an Argentine series of patients with myelofibrosis. PMID: 29761621
3. very particular "pre-CMML"-MDS cases seem to be well characterized by enhanced genetic instability, justifying multiple co-mutations, and by the constant feature of early ASXL1 mutation. PMID: 28522578
4. There were no significant differences between the clinical and laboratory characteristics of ASXL1-mutated (ASXL1) chronic myelomonocytic leukemia and ASXL1-nonmutated (ASXL1) chronic myelomonocytic leukemia patients. PMID: 30027691
5. Data indicate that additional Sex Comb-Like 1 protein (ASXL1)-mut were associated with poor prognosis in de novo AML with trisomy 8 as the sole aberration. PMID: 27736271
6. our data further validate the prognostic role of ASXL1 mutations in chronic myelomonocytic leukemia PMID: 29176559
7. The authors demonstrate that BAP1 deubiquitinase activity and its association with ASXL1 to form the Polycomb repressive deubiquitinase complex (PR-DUB) impacts TRAIL sensitivity implicating transcriptional modulation as an underlying mechanism. PMID: 29345617
8. Prognostic interaction between bone marrow morphology and SF3B1 and ASXL1 mutations in myelodysplastic syndromes with ring sideroblasts PMID: 29434284
9. EZH2 mutations in chronic myelomonocytic leukemia cluster with ASXL1 mutations and their co-occurrence is prognostically detrimental. PMID: 29358618
10. Transcriptome analysis revealed that ASXL1 mutations altered differentiation of U937 cells by disturbing genes involved in myeloid differentiation. PMID: 29532865
11. This study identifies the unique role of JAG1-induced Notch activation in the pathogenesis of multiple myeloma. This is of significant clinical relevance due to the prevalence of truncating ASXL1 mutations and their effect on clinical outcome in patients with myeloid malignancies PMID: 29242575
12. Evidence of a key role for ASXL1 in erythropoiesis, ASXL1 loss hinders erythroid development/maturation. PMID: 27352931
13. Patients harbouring ASXL1 and/or CBL mutations (n = 8, 8 deaths, median OS = 11 months) had a significantly worse OS as compared to those without either mutation (n = 11, 4 deaths, median OS = 84 months) (P = 0.0002) (Fig 1a). PMID: 26628266
14. Hypermethylation of the CTNNA1 promoter was associated with unfavorable karyotype, and possessed the higher frequency of coexisting with ASXL1 and RUNX1 mutations. PMID: 27129146
15. Mutations in genes associated with epigenetic regulations such as DNMT3A and ASXL1 seem to play an important role in the pathogenesis of CML progression and TKI-resistance independent of ABL1 KD mutations PMID: 28667884
16. mutations in the SRSF2/ASXL1/RUNX1 gene panel identified as significant prognostic markers in systemic mastocytosis PMID: 27416984
17. It was found that the absence of mutations in the SRSF2, ASXL1, and/or RUNX1gene panel at baseline and a reduction of the KIT D816V allele burden more than 25% at month 6 are the most favorable predictors for improved survival in midostaurin-treated advanced systemic mastocytosis patients. PMID: 28424161
18. Mutation in ASXL1 gene is associated with chronic myelomonocytic leukemia. PMID: 27385790
19. ASXL1 mutation is associated with acute myeloid leukemia. PMID: 28063196
20. We examined all ASXL1 truncating variants in the ExAC database and determined most are likely somatic. Failure to consider somatic mosaicism may lead to the inaccurate assumption that conditions like BOS have reduced penetrance, or the misclassification of potentially pathogenic variants. PMID: 28229513
21. ASXL1 Circular RNA is Produced by Splicing from its pre-mRNA. PMID: 27736885
22. We conclude that ASXL1 is essential for erythroid development and differentiation and that the aberrant differentiation is, at least in part, facilitated via PRC2. PMID: 27616637
23. Demonstration of ASXL1 mutation, a putative tumor suppressor gene, represents an important molecular abnormality in CML. Authors also showed that concomitant detection of BCR-ABL and JAK2V617F mutations has a relatively high incidence in Iranian patients. PMID: 27640403
24. This study showed ASXL1 exon 12 mutations in 16 of 70 (23%) patients with myelofibrosis, with 11 different mutations found in these patients. PMID: 26714837
25. Mutations in ASXL1, U2AF1, and SF3B1 are common in Chinese patients with myelodysplastic syndromes. PMID: 26508027
26. ASXL1 germline missense substitution is associated with hematological malignancies. PMID: 26286068
27. identified significant ASXL1 SNPs in Chinese patients with acquired aplastic anemia (AA); results showed 8.2% had the recurrent conjoined rs62206933, rs117901891 and rs74638057 genotype (WT1), which was closely associated with poor prognosis in patients with nonsevere AA and had a greater risk of transformation to myelodysplastic syndrome PMID: 26234322
28. Correction of ASXL1 driver mutation in leukemia cells using CRISPR/Cas increases survival in vivo in mice. PMID: 26623729
29. Frameshift mutation in the ASXL1 gene is associated with Bohring-Opitz syndrome. PMID: 26364555
30. De novo mutation in ASXL1 gene is associated with Bohring-Opitz syndrome. PMID: 26768331
31. Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals PMID: 26470845
32. the present results indicate that the truncating ASXL1 mutant is indeed expressed in MDS cells and may play a role in MDS pathogenesis not previously considered. PMID: 26700326
33. Chronic myelomonocytic leukemia has an inherent tendency to transform to acute myeloid leukemia. Gene mutations involving ASXL1 are frequent and identified to have an independent negative prognostic effect on overall survival. PMID: 26848006
34. This study showed that the BAP1 C-terminal extension is important for H2A deubiquitination but needs to be activated by the DEUBAD domains of ASXL1 or its relatives. PMID: 26739236
35. Somatic mutations in ASXL1 are associated with myeloid malignancies. PMID: 25921057
36. ASXL1 and TP53 mutations identify two molecular subgroups among AML-MRCs, with specific poor prognosis. This could be useful for future diagnostic and prognostic classifications. PMID: 25860933
37. Data show that additional sex combs like 1 (Drosophila) protein (ASXL1) mutational status can improve the risk stratification of patients with acute myeloid leukemia in the setting of integrated mutational profiling. PMID: 25308295
38. ASXL1 truncation mutations confer gain-of-function on the ASXL-BAP1 complex. PMID: 26095772
39. Data indicate that 8 of 190 patients with essential thrombocythemia with calreticulin (CALR) mutation had an additional Sex Comb-Like 1 protein (ASXL1) mutation. PMID: 25005031
40. USP7 demonstrated that USP7 bound to both ASXL1-WT and ASXL1-MT PMID: 25836587
41. ASXL1, ASXL2 and ASXL3 are epigenetic scaffold proteins that are involved in the pathogenesis of non-cancerous diseases and cancers. [Review] PMID: 25835095
42. Mutations in ASXL1 gene is associated with chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia. PMID: 25239264
43. ASXL1 mutation, particularly in the context of a coexisting RUNX1 mutation, constitutes a strong adverse prognostic factor in acute myeloid leukemia. PMID: 25596267
44. The SETBP1 and ASXL1 mutations have pathogenetic roles in CSF3R-mutated chronic neutrophilic leukemia. PMID: 25850813
45. The low incidence of mutations in younger patients with primary disease and the lack of significance indicate that there is a limited role for screening at diagnosis for ASXL1 mutations for the purpose of prognostic stratification. PMID: 23952244
46. SETBP1 mutations are critical drivers of ASXL1-mutated myelodysplastic syndrome. PMID: 25306901
47. The expression of ASXL1 and CALR predicts the survival and momelotinib drug response in myelofibrosis patients. PMID: 25322686
48. ASXL1 mutations are associated with acute myeloid leukemia. PMID: 25592059
49. The current study confirms the independent prognostic value of nonsense/frameshift ASXL1 mutations in chronic myelomonocytic leukemia and signifies its added value to the Mayo prognostic model. PMID: 24695057
50. These observations signify immediate clinical relevance and warrant i) CALR and ASXL1 mutation determination in all patients with PMF and ii) molecular revision of DIPSS-plus. PMID: 24496303

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HGNC: 18318

OMIM: 605039

KEGG: hsa:171023

STRING: 9606.ENSP00000364839

UniGene: Hs.374043