|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In meninges and soft tissue, SFTs with the NAB2 exon 6-STAT6 exon 16/17/18 tended to recur more frequently than SFTs with the NAB2 exon 4-STAT6 exon 2/3.
|
27271270 |
2016 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In this study, we described a cohort of 41 patients with solitary fibrous tumor of the extremities and evaluated the prognostic role of clinical and histological features, presence of C228T and C250T mutations at the TERT promoter region, and NAB2-STAT6 fusion variants.
|
31463729 |
2020 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We examined variations of the NAB2-STAT6 fusion gene in 40 cases of SFT using formalin-fixed, paraffin-embedded tissues and secondary genetic alterations of tumor protein p53 (TP53),, platelet-derived growth factor receptor, β polypeptide (PDGFRB), and telomerase reverse transcriptase (TERT) promoters.
|
25582503 |
2015 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The objectives were to review the cases diagnosed as meningeal SFT or HPC between 2010 and 2017 and classify them into SFT (grade I) or HPC (grades II and III) phenotypes; to confirm the diagnosis by performing STAT6 immunohistochemistry; and to observe and record the histological features in detail and correlate the tumor grades with their behavior.
|
30233017 |
2019 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In contrast to solitary fibrous tumors of soft tissue and sinonasal tract origin, SN-HPCs were recently shown to lack recurrent NAB2-STAT6 fusion variants.
|
25482924 |
2015 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions).
|
30819530 |
2019 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Herein, we evaluated a cohort of 52 SFTs/hemangiopericytomas (HPCs) by whole-exome sequencing (one case) and multiplex RT-PCR (all 52 cases), and identified 12 different NAB2-STAT6 fusion variants in 48 cases (92%).
|
24513261 |
2014 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have reported a case of GRIA2 and PAX8-positive SFT occurring primarily in the kidney with such NAB2-STAT6 gene fusion for the first time.
|
26337721 |
2015 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
NAB2 exon 4-STAT6 exon 3 fusion correlated with classic SFT morphology and older age and showed a trend toward less mitotic activity; there was also a trend toward more aggressive behavior in tumors lacking NAB2 exon 4-STAT6 exon 3.
|
26883114 |
2016 |
|
Solitary fibrous tumor
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator.
|
23313952 |
2013 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A case-control study for association of STAT6 polymorphisms rs4559 and rs324011 with asthma risk was performed.
|
30511616 |
2018 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The correlation analysis of two common polymorphisms in STAT6 gene and the risk of asthma: a meta-analysis.
|
23861779 |
2013 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Some common STAT6 SNPs were associated with asthma predisposition and/or IgE levels, although discrepancies have also been reported.
|
24912007 |
2014 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
From these findings we conclude that the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.
|
11912176 |
2002 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Data from 19 studies were pooled that reported associations of rs324015, rs71802646 and rs324011 in STAT6 gene with asthma risk.
|
24952213 |
2014 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.
|
30552067 |
2019 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.
|
31619474 |
2019 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In human populations, genetic polymorphisms in IL-13, its receptor components, or the essential signaling element STAT6, have all been associated with increased risk of atopy and asthma.
|
18502398 |
2008 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To investigate the association of polymorphisms of STAT6 gene and air pollutants of PM(10), NO(2), and SO(2), with asthma in Chinese children.
|
22365404 |
2011 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
|
29273806 |
2018 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The NOS1 intron 2 GT repeat and STAT6 exon 1 GT repeat were associated with asthma.
|
14767694 |
2004 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.
|
30787307 |
2019 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Selected single nucleotide polymorphisms (SNPs) were analysed as potential markers for asthma susceptibility and severity in the interleukin 4 (IL4), interleukin 13 (IL13), beta-2-adrenergic receptor (ADRB2), a disintegrin and metalloprotease 33 (ADAM33), gasdermin-like (GSDML) and the signal transducer and activator of transcription 6 (STAT6) genes comparatively to a population reference set.
|
25299150 |
2014 |
|
Asthma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated the single nucleotide polymorphisms and interactions among three different loci in three candidate genes (STAT-6 G2964A, STAT-4 T90089C and IFN-gamma T874A) in 95 Chinese asthmatic subjects and 95 matched controls to determine the possible associations with asthma.
|
17532201 |
2007 |