|
MYELODYSPLASTIC SYNDROME
|
0.570 |
GeneticVariation
|
group |
BEFREE |
The SETBP1 mutation is associated with poor prognosis in MDS.
|
24127063 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.570 |
GeneticVariation
|
group |
BEFREE |
In this study, we used high-resolution melting analysis (HRMA) to detect the SETBP1 mutations in a cohort of 363 patients with AML or MDS.
|
29549983 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.570 |
GeneticVariation
|
group |
BEFREE |
Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
|
23889083 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.570 |
GeneticVariation
|
group |
BEFREE |
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.
|
23832012 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.570 |
GeneticVariation
|
group |
BEFREE |
Current evidence shows that SETBP1 mutation is associated with a poor prognosis in patients with MDS and CMML, but not in patients with CNL.
|
28158286 |
2017 |
|
MYELODYSPLASTIC SYNDROME
|
0.570 |
Biomarker
|
group |
BEFREE |
These data reveal that SETBP1-MT are critical drivers of ASXL1-mutated MDS and identify several deregulated pathways as potential therapeutic targets in high-risk MDS.
|
25306901 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.570 |
GeneticVariation
|
group |
BEFREE |
These data indicate that HDAC inhibitors will be promising therapeutic drugs for MDS and AML with ASXL1 and SETBP1 mutations.
|
30367089 |
2018 |
|
Juvenile Myelomonocytic Leukemia
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia.
|
25395418 |
2015 |
|
Juvenile Myelomonocytic Leukemia
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia.
|
28209919 |
2017 |
|
Juvenile Myelomonocytic Leukemia
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
|
23832011 |
2013 |
|
Juvenile Myelomonocytic Leukemia
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients.
|
24695057 |
2014 |
|
Juvenile Myelomonocytic Leukemia
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with JMML, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1.JMML xenotransplantation and colony assay provide an initial understanding of the secondary nature of these events occurring in early precursor cells and suggest a different propagating capacity of clones harboring particular mutations.
|
26980750 |
2016 |
|
Intellectual Disability
|
0.410 |
GeneticVariation
|
group |
BEFREE |
These genetic changes include haploinsufficiency of SETBP1 associated with intellectual disability and loss of expressive language and truncations of ZMYND11 in individuals with autism, aggression and complex neuropsychiatric features.
|
25217958 |
2014 |
|
Colorectal Carcinoma
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that SETBP1 expression is mainly similar o lower in colorectal cancer tissue compared to normal colonic mucosa.
|
29796729 |
2018 |
|
Language Development Disorders
|
0.310 |
Biomarker
|
group |
BEFREE |
Several genes (including the candidate SETBP1 and other MEF2-related genes) seem to jointly influence certain, but not all, facets of the DLD phenotype.
|
27016271 |
2016 |
|
Speech Delay
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
As rare 18q interstitial deletions affecting multiple genes including SETBP1 correlate with a milder phenotype, including minor physical anomalies and developmental and expressive speech delay, mutations in SETBP1 are thought to result in a gain-of-function or a dominant-negative effect.
|
21037274 |
2011 |
|
Cerebral atrophy
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
|
26096993 |
2015 |
|
Malignant Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
Only SETBP1 hotspot mutations are associated with refractory disease in myeloid malignancies.
|
28913558 |
2017 |
|
Malignant Neoplasms
|
0.090 |
AlteredExpression
|
group |
BEFREE |
In summary, this work unveils a SETBP1 function that directly affects gene transcription and clarifies the mechanism operating in myeloid malignancies and in the Schinzel-Giedion syndrome caused by SETBP1 mutations.
|
29875417 |
2018 |
|
Malignant Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
Recent studies identified mutations in SET-binding protein 1 (SETBP1) as novel marker in myeloid malignancies, especially in atypical chronic myeloid leukemia (aCML) and related diseases.
|
23628959 |
2013 |
|
Malignant Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
Targeted resequencing of 70 aCMLs, 574 diverse hematological malignancies and 344 cancer cell lines identified SETBP1 mutations in 24 cases, including 17 of 70 aCMLs (24.3%; 95% confidence interval (CI) = 16-35%).
|
23222956 |
2013 |
|
Malignant Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
This paper has highlighted that TGFαL3-SEB has the potential to target EGFR expressing cancer cell.
|
30471512 |
2019 |
|
Malignant Neoplasms
|
0.090 |
Biomarker
|
group |
BEFREE |
Synergistic enhancement of cancer therapy using a combination of fusion protein MG7-scFv/SEB and tumor necrosis factor alpha.
|
23016583 |
2013 |
|
Malignant Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
Somatic SETBP1 mutations in myeloid malignancies.
|
23832012 |
2013 |
|
Malignant Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations.
|
28346496 |
2017 |