|
Osteoporosis, Age-Related
|
0.300 |
Biomarker
|
disease |
CTD_human |
Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density.
|
18924182 |
2008 |
|
Osteoporosis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density.
|
18924182 |
2008 |
|
Neoplasms
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Using an integrative approach combining genomic and transcriptomic data, we molecularly characterized 30 pediatric T-ALLs and identified common recurrent T-ALL targets such as FBXW7, JAK1, JAK3, PHF6, KDM6A and NOTCH1 as well as novel candidate T-ALL driver mutations including the p.R35L missense mutation in splicesome factor U2AF1 found in 3 patients and loss of function mutations in the X-linked tumor suppressor genes MED12 (frameshit mutation p.V167fs, splice site mutation g.chrX:70339329T>C, missense mutation p.R1989H) and USP9X (nonsense mutation p.Q117*).
|
27602765 |
2016 |
|
Neoplasms
|
0.050 |
GeneticVariation
|
group |
BEFREE |
These novel observations support the hypothesis that U2AF1 mutations play a significant role in myeloid leukemogenesis due to selective missplicing of tumor-associated genes.
|
23775717 |
2013 |
|
Neoplasms
|
0.050 |
GeneticVariation
|
group |
BEFREE |
We also report a novel finding-our study reveals a high frequency of U2AF1 mutations at codon Q157 associated with CSF3R mutant myeloid neoplasms.
|
26637732 |
2015 |
|
Neoplasms
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Our results provide mechanistic explanations of the magnitude of splicing changes observed in U2AF1-mutant cells and why tumors harboring U2AF1 mutations always retain an expressed copy of the wild-type allele.
|
27776121 |
2016 |
|
Neoplasms
|
0.050 |
GeneticVariation
|
group |
BEFREE |
In this study, we analyzed the frequency and clinical impact of U2AF1 mutations in a cohort of 452 Chinese patients with myeloid neoplasms.
|
23029227 |
2012 |
|
Myoclonic Epilepsies, Progressive
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, because this gene maps in the critical region for the progressive myoclonus epilepsy I locus (EPM1), mutation analysis will be carried out in patients to evaluate the potential role of U2AF1 as a candidate for EPM1.
|
8660980 |
1996 |
|
Myeloproliferative disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
In total, 122 patients with MDS (30%), acute myeloid leukemia (51%), myeloproliferative neoplasms (MPN) (11%), and MDS/MPN (8%) receiving a HCT from 2003 to 2012 were evaluated for mutations in U2AF1 and SRSF2 by direct sequencing.
|
26799334 |
2016 |
|
Myeloid neoplasm
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the splicing factor-encoding gene U2AF1 are frequent in the myelodysplastic syndromes (MDS), a myeloid malignancy, and other cancers.
|
28436936 |
2017 |
|
Myeloid neoplasm
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous somatic mutations in the spliceosome gene U2AF1 occur in ∼ 11% of patients with myelodysplastic syndromes (MDS), the most common adult myeloid malignancy.
|
25965570 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression.
|
23861105 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
SF3B1 mutations are prevalent in low-risk MDS with ring sideroblasts, whereas U2AF1 and SRSF2 mutations are frequent in chronic myelomonocytic leukemia and advanced forms of MDS.
|
22323480 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
AlteredExpression
|
group |
BEFREE |
With the advent of next generation sequencing, recurrent somatic mutations in genes involved in epigenetic regulation (TET2, ASXL1, EZH2, DNMT3A, IDH1/2), RNA splicing (SF3B1, SRSF2, U2AF1, ZRSR2), DNA damage response (TP53), transcriptional regulation (RUNX1, BCOR, ETV6) and signal transduction (CBL, NRAS, JAK2) have been identified in MDS.
|
26769228 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Contrary to previous reports, we found no association between TET2 mutations and HMA treatment response (40% vs 41%; P = 0.9), even in the absence of ASXL1 mutations (P = 0.4).We conclude that ASXL1 mutations in MDS predict inferior response to treatment with both HMAs and LEN; response to LEN was also compromised by U2AF1 mutations and high risk karyotype; SF3B1 mutations identified patients likely to respond to LEN.
|
30152885 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
MacroH2A1.1 mRNA levels are significantly decreased in patients with low-risk MDS presenting with chromosomal 5q deletion and myeloid cytopenias and tend to be decreased in MDS patients carrying the U2AF1 S34F mutation.
|
31439048 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Taken together, our results demonstrate that ATR may represent a novel therapeutic target in patients with MDS carrying the U2AF1(S34F) mutation and potentially other malignancies harboring spliceosome mutations.<b>Significance:</b> This study provides preclinical evidence that patients with MDS or other myeloid malignancies driven by spliceosome mutations may benefit from ATR inhibition to exploit the R loop-associated vulnerability induced by perturbations in splicing.<i></i>.
|
30054334 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
U2AF1 mutation is more prevalent in younger MDS patients and associated with inferior outcomes although it is stable during the clinical course.
|
23861105 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA sequences, leading to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis.
|
25311244 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
In total, 122 patients with MDS (30%), acute myeloid leukemia (51%), myeloproliferative neoplasms (MPN) (11%), and MDS/MPN (8%) receiving a HCT from 2003 to 2012 were evaluated for mutations in U2AF1 and SRSF2 by direct sequencing.
|
26799334 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
U2 small nuclear RNA auxiliary factor 1 (U2AF1) mutant is the most common molecular biological abnormality in patients with myelodysplastic syndromes.
|
31754743 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
AlteredExpression
|
group |
BEFREE |
Collectively, mutations in U2AF1 induce expression of therapeutically targetable 'active' IRAK4 isoforms and provide a genetic link to activation of chronic innate immune signalling in MDS and AML.
|
31011167 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
MDS and acute myeloid leukemia patient samples harboring U2AF35(S34F) have a similar increased use of the ATG7 distal CP site, and previous studies have shown that mice with hematopoietic cells lacking Atg7 develop an MDS-like syndrome.
|
27184077 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Recent studies are shedding light on the molecular basis of myelodysplasia and how mutations and epimutations can induce and promote this neoplastic process through aberrant transcription factor function (RUNX1, ETV6, TP53), kinase signalling (FLT3, NRAS, KIT, CBL) and epigenetic deregulation (TET2, IDH1/2, DNMT3A, EZH2, ASXL1, SF3B1, U2AF1, SRSF2, ZRSR2).
|
24903747 |
2014 |