RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.
|
29540340 |
2018 |
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.
|
29519864 |
2018 |
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
|
26581901 |
2015 |
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
|
0.510 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT.
|
26581901 |
2015 |
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT.
|
26581901 |
2015 |
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT.
|
26581901 |
2015 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM accounts for 1% to 2% of all forms of AML and has been associated with a younger age at diagnosis, a poor response to standard induction chemotherapy, and very poor long-term prognosis.
|
31711889 |
2020 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
CTD_human |
EVI-1 modulates arsenic trioxide induced apoptosis through JNK signalling pathway in leukemia cells.
|
30472098 |
2019 |
Leukemia, Myelocytic, Acute
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Acute myeloid leukemia (AML) patients with high level of EVI1 are associated with unfavorable overall survival, which was aggravated by simultaneous high expression of ATG7 in these patients.
|
31593983 |
2019 |
Leukemia, Myelocytic, Acute
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Many studies have reported the potential poor prognostic impact of EVI1 higher expression (EVI1<sup>H</sup>) in the AML patients; however, the conclusions previously reported have not been fully assessed and are still controversial.
|
31482295 |
2019 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
We report that Evi1 reduced the maturation of leukemic cells and promoted the abundance, quiescence, and activity of LSCs in an MLL-AF9-driven mouse model of AML. atRA further augmented these effects in an Evi1 dependent manner.
|
31822659 |
2019 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Treatment of EVI1<sup>high</sup> AML cell lines (UCSD/AML1 and Kasumi-3) with PIP/56-1 or PIP/56-2 effectively suppressed GPR56 expression by inhibiting binding of EVI1 to its promoter, leading to suppression of cell growth with increased rates of apoptosis.
|
30214063 |
2018 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified H2AFY as a novel fusion gene partner of MECOM in an elderly male AML patient with cryptic 3q26 rearrangement using the whole transcriptome sequencing, who carried out abnormal karyotype of 46,XY,t(3;5)(q27;q31),add(14)(p11).
|
29666008 |
2018 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Acute Myeloid Leukemia (AML): Upregulation of BAALC/MN1/MLLT11/EVI1 Gene Cluster Relate With Poor Overall Survival and a Possible Linkage With Coexpression of MYC/BCL2 Proteins.
|
28362701 |
2018 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
RNA remnants underwent gene expression profiling analysis using the AML profiler, which detects chromosomal aberrations: t(8;21), t(15;17), inv(16), mutations (CEBPAdm, ABD-NPM1) and BAALC and EVI1 expression.
|
27140599 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Transcriptional activation of the EVI1 oncogene (3q26) leads to aggressive forms of human acute myeloid leukemia (AML).
|
28391050 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
RUNX1-ETO and RUNX1-EVI1 Differentially Reprogram the Chromatin Landscape in t(8;21) and t(3;21) AML.
|
28538183 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Acute myeloid leukemia with t(3;21)(q26.2;q22) developing following low-dose methotrexate therapy for rheumatoid arthritis and expressing two AML1/MDS1/EVI1 fusion proteins: A case report.
|
28693140 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Targeting CKMT1 is thus a promising therapeutic strategy for this EVI1-driven AML subtype that is highly resistant to current treatment regimens.
|
28191887 |
2017 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, important progress has been made in the delineation of the mechanism by which EVI1 becomes deregulated in inv(3)/t(3;3) as well as the cooperating mutations in this specific subset of AML with dismal prognosis.
|
26729571 |
2016 |
Leukemia, Myelocytic, Acute
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We also observed significantly down-regulation of PU.1 and miR-22 as well as significantly up-regulation of MECOM in acute myeloid leukemia (AML) patients.
|
27617961 |
2016 |
Leukemia, Myelocytic, Acute
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Our study demonstrates that the magnitude of reduction in EVI1 expression levels between AML diagnosis and follow-up is not sufficient to allow sensitive detection of minimal residual disease.
|
26467814 |
2015 |
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Ecotropic virus integration site-1 (EVI-1) gene, locus on chromosome 3 (3q26.2) in the human genome, was first found in the AKXD strain of mice, in a model of retrovirus-induced acute myeloid leukemia (AML) established twenty years ago.
|
26496831 |
2015 |