Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
On the gene level, in addition to TGFBR2 and CCND1, IL5 and GM-CSF showed the strongest associations with overall breast cancer risk (p value = 1.0 × 10(-3) and 7.0 × 10(-3), respectively).
|
26621531 |
2016 |
Leukemia, Myelocytic, Acute
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most popular mouse strains used in research, the NOG (NOD.Cg-Prkdc<sup>scid</sup> Il2rγ<sup>tm1Sug</sup>/Jic) and the NSG (NOD/SCID-IL2Rγ<sup>-/-</sup>, NOD.Cg-Prkdc<sup>scid</sup>Il2rγ<sup>tm1Wjl</sup>/SzJ) mouse, and their human-cytokine-producing (interleukin-3, granulocyte-macrophage colony-stimulating factor, and stem cell factor) counterparts (huNOG and NSGS), rely partly on a mutation in the DNA repair protein PRKDC, causing a severe combined immune deficiency (SCID) phenotype and rendering the mice less tolerant to DNA-damaging therapeutics, thereby limiting their usefulness in the investigation of novel acute myeloid leukemia (AML) therapeutics.
|
30125602 |
2018 |
Leukemia, Myelocytic, Acute
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Individuals with WT1-positive acute myeloid leukemia (AML) in first (CR1) or second (CR2) remission or with higher-risk myelodysplastic syndrome (MDS) following at least 1 prior line of therapy were vaccinated with a mixture of peptides derived from the WT1 protein, with sargramostim injections before vaccination to amplify immunogenicity.
|
25802083 |
2015 |
Leukemia, Myelocytic, Acute
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have therefore studied the coding sequence of the GM-CSF receptor alpha chain (GM-CSFR alpha) in patients with acute myeloid leukaemia (AML) and non-AML controls using single strand conformation polymorphism (SSCP) analysis.
|
7522290 |
1994 |
Leukemia, Myelocytic, Acute
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, G-CSF, but not GM-CSF and IL-3, enhanced clonal growth in three cases of high risk patients with MDS (RAEB, RAEB-t, and MDS having progressed to acute myeloid leukemia (AML)) and one low risk patient (RA).
|
12012328 |
2002 |
Leukemia, Myelocytic, Acute
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To address this limitation, we here transplanted primary human AML with isolated nucleophosmin (NPM1) mutation and AML with inv(16) in mice in which human versions of genes encoding cytokines important for myelopoiesis (macrophage colony-stimulating factor [M-CSF], interleukin-3, granulocyte-macrophage colony-stimulating factor, and thrombopoietin) were knocked into their respective mouse loci.
|
27581357 |
2016 |
Leukemia, Myelocytic, Acute
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The beta subunit common to the GM-CSF, IL-3 and IL-5 receptors is highly polymorphic but pathogenic point mutations in patients with acute myeloid leukaemia (AML) are rare.
|
8558916 |
1996 |
Leukemia, Myelocytic, Acute
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified such mutations using a Sleeping Beauty transposon, which caused rapid-onset AML in 80% of mice with Npm1c, associated with mutually exclusive integrations in Csf2, Flt3 or Rasgrp1 in 55 of 70 leukemias.
|
21441929 |
2011 |
melanoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The HLA-A0201 presented melanoma-associated MART-1/Melan-A derived peptide AAGIGILTV was employed to assess the impact of such position-97 mutations on HLA-A2 in peptide binding measured in an HLA-A2 reconstitution assay and presentation to AAGIGILTV-specific polyclonal or clonal T lymphocytes as measured by cytotoxicity, or interferon (IFN)-gamma and granulocyte/ macrophage colony-stimulating factor (GM-CSF) secretion.
|
8921947 |
1996 |
Juvenile Myelomonocytic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We screened RNA from six patients with JCML for mutations in the GM-CSF receptor (GM-CSFR) coding sequence using RT-PCR-SSCP.
|
9131005 |
1997 |
Juvenile Myelomonocytic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with JMML have mutually exclusive genetic abnormalities in granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor (GMR, CD116) signaling pathway.
|
26983639 |
2016 |
Juvenile Myelomonocytic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
With this quantification method, JMML patients with RAS mutations showed significantly higher GM-CSF sensitivity than JMML patients with PTPN11 mutations.
|
18164384 |
2008 |
Juvenile Myelomonocytic Leukemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings identify the molecular basis for the autocrine TNFalpha activation of the GM-CSF gene in JMML and suggest potential novel and specific approaches for the treatment of this aggressive childhood leukemia.
|
9185524 |
1997 |
Breast Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
On the gene level, in addition to TGFBR2 and CCND1, IL5 and GM-CSF showed the strongest associations with overall breast cancer risk (p value = 1.0 × 10(-3) and 7.0 × 10(-3), respectively).
|
26621531 |
2016 |
Breast Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The vaccine, encoding a full-length signaling-deficient version of the oncogene Her2, was administered together with low doses of GM-CSF and IL-2 to patients with metastatic Her2-expressing breast carcinoma who were also treated with trastuzumab.
|
20529245 |
2010 |
Liver neoplasms
|
0.360 |
GeneticVariation
|
group |
BEFREE |
To test whether antitumor activity could be increased by combining the above two mechanisms, this study examined the therapeutic effect of combination gene therapy using a murine granulocyte-macrophage colony-stimulating factor (mGM-CSF) gene and a human endostatin (hED) gene on a rat orthotopic liver tumor model.
|
12731087 |
2003 |
Schizophrenia
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
We report results of a case-control WGA study in schizophrenia, examining approximately 500 000 markers, which revealed a strong effect (P=3.7 x 10(-7)) of a novel locus (rs4129148) near the CSF2RA (colony stimulating factor, receptor 2 alpha) gene in the pseudoautosomal region.
|
17522711 |
2007 |
Sarcoma
|
0.330 |
GeneticVariation
|
group |
BEFREE |
As described in this protocol, fresh human sarcoma and melanoma specimens can be transfected with the GM-CSF DNA-coated gold particles with subsequent production of biologically active GM-CSF protein.
|
9143914 |
1997 |
Pulmonary Alveolar Proteinosis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to investigate the clinical efficacy of GM-CSF inhalation combined with WLL in Chinese patients with PAP.
|
31513019 |
2019 |
Pulmonary Alveolar Proteinosis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In fact, blockade of GM-CSF-initiated signaling or deletion of the PPARγ-encoding gene <i>PPARG</i> leads to functionally defective A-MØ and the onset of pulmonary alveolar proteinosis.
|
29434585 |
2018 |
Pulmonary Alveolar Proteinosis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities in CSF2 receptor alpha (CSF2RA) were reported to cause pediatric hereditary PAP.
|
28212655 |
2017 |
Pulmonary Alveolar Proteinosis
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations that disrupt GM-CSF receptor signaling comprise a rare form of hereditary PAP.
|
20338813 |
2010 |
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
[<sup>18</sup>F]AV1451-PET cortical SUVR and p-tau showed excellent discrimination between Aβ-positive AD and non-AD conditions (area under the curve 0.92-0.94; ≤0.83 for other CSF measures), and reached 83% classification agreement.
|
29282337 |
2018 |
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results reveal that despite the concentrations of tAβ<sub>40</sub> and pAβ<sub>40</sub> fluctuate in each individual case, the concentration ratios of pAβ<sub>40</sub>/tAβ<sub>40</sub> in CSF samples from AD patients are significant larger than those from healthy donors.
|
30724072 |
2019 |
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Elevated NfL levels in CSF and blood have been observed in a growing number of neurodegenerative disorders, including frontotemporal dementia and Alzheimer's disease.
|
29937097 |
2018 |