|
MYELODYSPLASTIC SYNDROME
|
0.040 |
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
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Expression of IRAK4-L is mediated by mutant U2 small nuclear RNA auxiliary factor 1 (U2AF1) and is associated with oncogenic signalling in MDS and AML.
|
31011167 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.040 |
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
|
0.040 |
GeneticVariation
|
group |
BEFREE |
The patient with systemic mastocytosis and MDS carried both mutated U2AF35 and KIT in a single clone as confirmed by clonal sequencing.
|
22238327 |
2012 |
|
Malignant Neoplasms
|
0.030 |
GeneticVariation
|
group |
BEFREE |
The cancer-associated U2AF35 470A>G (Q157R) mutation creates an in-frame alternative 5' splice site that impacts splicing regulation in Q157R patients.
|
28893951 |
2017 |
|
Malignant Neoplasms
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Although recurrent somatic mutations in the splicing factor U2AF1 (also known as U2AF35) have been identified in multiple cancer types, the effects of these mutations on the cancer transcriptome have yet to be fully elucidated.
|
24498085 |
2014 |
|
Malignant Neoplasms
|
0.030 |
GeneticVariation
|
group |
BEFREE |
SRSF2, SF3B1, and U2AF35 (U2AF1) are the three most frequent genes involved with spliceosome mutations in myeloid malignancies.
|
23335386 |
2013 |
|
Primary malignant neoplasm
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The cancer-associated U2AF35 470A>G (Q157R) mutation creates an in-frame alternative 5' splice site that impacts splicing regulation in Q157R patients.
|
28893951 |
2017 |
|
Primary malignant neoplasm
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Although recurrent somatic mutations in the splicing factor U2AF1 (also known as U2AF35) have been identified in multiple cancer types, the effects of these mutations on the cancer transcriptome have yet to be fully elucidated.
|
24498085 |
2014 |
|
Leukemia, Myelocytic, Acute
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Expression of IRAK4-L is mediated by mutant U2 small nuclear RNA auxiliary factor 1 (U2AF1) and is associated with oncogenic signalling in MDS and AML.
|
31011167 |
2019 |
|
leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
NSE levels were deregulated in leukemias and were influenced by the identity of U2AF35 residue 34.
|
26732650 |
2016 |
|
Miller Dieker syndrome
|
0.010 |
GeneticVariation
|
disease |
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 |
|
Hematological Disease
|
0.010 |
Biomarker
|
group |
BEFREE |
Given prevalent mutations in U2AF, particularly in the U2AF1 gene (which encodes for the U2AF35 subunit) in blood disorders and other human cancers, there are renewed interests in these classic splicing factors to further understand their regulatory functions in RNA metabolism in both physiological and disease settings.
|
25901584 |
2015 |
|
Childhood Acute Myeloid Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
We investigated possible alteration of the SETBP1, splicing factor 3B subunit 1 (SF3B1), U2 small nuclear RNA auxiliary factor 1 (U2AF1), and serine/arginine-rich splicing factor 2 (SRSF2) genes in childhood AML.
|
25553291 |
2015 |
|
Refractory anaemia with excess blasts
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We sequenced complementary DNA from bone marrow of 47 refractory anemia with excess blasts (RAEB) patients, 29 AML cases with low marrow blast cell count, and 325 other AML patients and determined the presence of SF-hotspot mutations in SF3B1, U2AF35, and SRSF2.
|
24668493 |
2014 |
|
Leukemia, Myelomonocytic, Chronic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R).
|
23335386 |
2013 |
|
Juvenile Myelomonocytic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Spliceosome mutations involving SRSF2, SF3B1, and U2AF35 in chronic myelomonocytic leukemia: prevalence, clinical correlates, and prognostic relevance.
|
23335386 |
2013 |
|
Mastocytosis, Systemic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The patient with systemic mastocytosis and MDS carried both mutated U2AF35 and KIT in a single clone as confirmed by clonal sequencing.
|
22238327 |
2012 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.010 |
Biomarker
|
disease |
BEFREE |
Together, these findings reveal critical interactions underlying the allele-dependent INS expression and INS-mediated risk of T1D and suggest that the increased requirement for U2AF35 in higher primates may hinder thymic presentation of autoantigens encoded by transcripts with weak 3' splice sites.
|
20628762 |
2010 |
|
Pancreatic carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
A misspliced form of the cholecystokinin-B/gastrin receptor in pancreatic carcinoma: role of reduced sellular U2AF35 and a suboptimal 3'-splicing site leading to retention of the fourth intron.
|
11830556 |
2002 |