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|---|---|---|---|
The Bcr-Abl oncogene, found in Philadelphia chromosome-positive myelogenous leukemia (CML), activates Ras and triggers the stress-activated protein kinase (SAPK or Jun NH2-terminal kinase [JNK]) pathway. | NA | {
"id": 5599,
"name": "MAPK8",
"pos": [
189,
3
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
64,
20
]
} |
We performed DNA sequence and dosage analysis of SMARCB1 and NF2 in 28 sporadic cases and 15 families with schwannomatosis. | NA | {
"id": 6598,
"name": "SMARCB1",
"pos": [
49,
7
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
71,
8
]
} |
On the basis of these results, we conclude that the presence of at least one apolipoprotein E ε4 allele might act as a genetic factor predisposing individuals to develop fragile X-associated tremor/ataxia syndrome. | NA | {
"id": 348,
"name": "APOE",
"pos": [
77,
16
]
} | {
"id": "C0007758",
"name": "Cerebellar Ataxia",
"pos": [
198,
6
]
} |
Loss of GPX1 expression was associated with aggressiveness and poor survival in patients with gastric cancer. | NA | {
"id": 2876,
"name": "GPX1",
"pos": [
8,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
44,
14
]
} |
These results indicate that, in our sample, the 5-HT2A receptor polymorphism studied is unlikely to play a major role in the genetic susceptibility to BPAD.Am.J. Med.Genet.(Neuropsychiatr.Genet.)96:136-140, 2000. | genomic_alterations | {
"id": 3356,
"name": "HTR2A",
"pos": [
48,
6
]
} | {
"id": "C1970945",
"name": "MAJOR AFFECTIVE DISORDER 6",
"pos": [
151,
4
]
} |
This model mimics, in an accelerated manner, the different stages of obstructive nephropathy leading to tubulointerstitial fibrosis: cellular infiltration, tubular proliferation and apoptosis, epithelial-mesenchymal transition (EMT), (myo)fibroblast accumulation, increased extracellular matrix (ECM) deposition, and tubular atrophy. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
296,
3
]
} | {
"id": "C1858395",
"name": "Tubular atrophy",
"pos": [
317,
15
]
} |
The problems that have been encountered and have delayed the development of other diagnostic tools are exemplified in the development of tests for human epidermal growth factor receptor (HER2) overexpression, for predictors of response to epidermal growth factor receptor inhibitors, and for the detection of residual disease following chemotherapy. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
153,
32
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
309,
16
]
} |
In the present study, HLA-G alleles/polymorphisms were studied in sarcoidosis patients (n = 47) and controls (n = 129) by PCR techniques and HLA-G protein expression was investigated in granulomas from sarcoidosis patients with the use of immunohistochemistry. | NA | {
"id": 3135,
"name": "HLA-G",
"pos": [
141,
5
]
} | {
"id": "C0018188",
"name": "Granuloma",
"pos": [
186,
10
]
} |
Together, these data show that endogenously produced AHSG in an HNSCC cell line, promotes in vitro cellular properties identified as having a role in tumorigenesis. | NA | {
"id": 197,
"name": "AHSG",
"pos": [
53,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
150,
13
]
} |
We investigated the association between six IL-17A gene variants (rs3819024, rs2275913, rs3819025, rs10484879, rs7747909, and rs3748067) with CRC susceptibility in Tunisians. | genomic_alterations | {
"id": 3605,
"name": "IL17A",
"pos": [
44,
6
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
142,
3
]
} |
Decreased AdipoR1 mRNA levels and increased circulating adiponectin in advanced stages of CAD, as well as in patients without significant stenosis, compared to the CG, implies that CAD could be related to 'adiponectin resistance'. | NA | {
"id": 51094,
"name": "ADIPOR1",
"pos": [
10,
7
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
138,
8
]
} |
DNA aneuploidy, S-phase fraction, nuclear p53 positivity, and survival in non-small-cell lung carcinoma. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
42,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
4,
10
]
} |
Obesity in a model of gpx4 haploinsufficiency uncovers a causal role for lipid-derived aldehydes in human metabolic disease and cardiomyopathy. | NA | {
"id": 2879,
"name": "GPX4",
"pos": [
22,
4
]
} | {
"id": "C0025517",
"name": "Metabolic Diseases",
"pos": [
106,
17
]
} |
In addition, because capping protein Z-line α1, PP1CB, and CSNK1A1 are involved in cell motility, which underlies invasion and metastasis of human cancer; they may be novel targets for antimetastatic therapies as well. | NA | {
"id": 8858,
"name": "PROZ",
"pos": [
29,
9
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
147,
6
]
} |
There were indications of p53 aberrations being associated with the combined effect of smoking, alcohol and work history. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
26,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
87,
7
]
} |
In case 3, a dir ins (18;5)(q21.3;p13.1p14) was associated with spontaneous abortions, in case 4, the proband with mental retardation, microcephaly, and a heart defect showed a pure trisomy of (12)(q13-->q15), which had segregated from a carrier of an ins (18;12)(p11.3;q13q15). | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
34,
3
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
182,
7
]
} |
Coinfected patients with liver failure had a significantly higher HIV-RNA load (mean 764, 599 978,542 copies/mL) and lower CD4+ lymphocyte count (mean 52.655. | NA | {
"id": 920,
"name": "CD4",
"pos": [
123,
3
]
} | {
"id": "C0085605",
"name": "Liver Failure",
"pos": [
25,
13
]
} |
The depletion of α-parvin from triple-negative breast cancer cells effectively inhibits breast cancer cell growth, migration, and invasion in vitro, and tumor progression and metastasis in vivo. | biomarker | {
"id": 55742,
"name": "PARVA",
"pos": [
17,
8
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
153,
17
]
} |
Acute megakaryoblastic leukemia with t(1;22)(p13;q13) is a rare malignancy occurring in infants and young children. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
45,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
64,
10
]
} |
The proto-oncogenes C-MYC and HMGB-1 mediate aggressive behavior of neuroblastomas. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
20,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
45,
19
]
} |
A significant interaction between the CYP2J2 T variant and younger onset diabetic subjects with positive family diabetes history, and BMI>/=27 kg/m (2) were observed to have the highest risk of diabetes and younger onset diabetics with the T variant had higher homeostasis model assessment estimate of insulin resistance (HOMA-IR) and HOMA-beta values than their GG genotype counterparts. | NA | {
"id": 1573,
"name": "CYP2J2",
"pos": [
38,
6
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
302,
18
]
} |
The native PSA enhancer and promoter confer prostate-specific expression when inserted into adenovirus vectors capable of efficient in vivo gene delivery, although the transcriptional activity is low. | NA | {
"id": 354,
"name": "KLK3",
"pos": [
11,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
92,
10
]
} |
These data suggest that KCa3.1 blockers represent a promising therapeutic strategy for atherosclerosis. | NA | {
"id": 3783,
"name": "KCNN4",
"pos": [
24,
6
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
87,
15
]
} |
GSTM1 and GSTM5 Genetic Polymorphisms and Expression in Age-Related Macular Degeneration. | biomarker | {
"id": 2949,
"name": "GSTM5",
"pos": [
10,
5
]
} | {
"id": "C0242383",
"name": "Age related macular degeneration",
"pos": [
56,
32
]
} |
Using the genomic DNA collected in a CaP case-control study (557 cases and 547 controls), we pilot tested the interactions of nine functionally characterized SNPs of three cytokine genes in CaP risk using the multivariate adaptive regression splines (MARS)-logit models. | NA | {
"id": 4141,
"name": "MARS1",
"pos": [
251,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
231,
10
]
} |
The aim of this study was to detect the expression of cold-inducible RNA-binding protein in pituitary adenoma and to determine its effects on tumor recurrence. | NA | {
"id": 1153,
"name": "CIRBP",
"pos": [
54,
34
]
} | {
"id": "C0032000",
"name": "Pituitary Adenoma",
"pos": [
92,
17
]
} |
The cell line revealed to be suitable for analysis of the active site of CYP11B1 as well as for analysis of side effects of drugs on steroidogenesis. | NA | {
"id": 1584,
"name": "CYP11B1",
"pos": [
73,
7
]
} | {
"id": "C0041755",
"name": "Adverse reaction to drug",
"pos": [
108,
21
]
} |
To assess whether Tcrδ translocations that inactivate one copy of Bcl11b promote transformation of Atm-deficient cells, we analyzed Atm(-/-) mice with mono-allelic Bcl11b deletion initiating in thymocytes concomitant with Tcrδ recombination. | NA | {
"id": 64919,
"name": "BCL11B",
"pos": [
164,
6
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
151,
4
]
} |
The plakophilin family (PKP1 to PKP3) is an essential component of the desmosomal adhesion complex with differentiation-dependent and partially overlapping expression and possible participation of the corresponding genes in malignant transformation. | NA | {
"id": 5317,
"name": "PKP1",
"pos": [
24,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
82,
8
]
} |
Overexpression of EPCAM, HAS3, and MMP10 transcripts was found in a large fraction of primary bladder tumors analyzed, supporting their key role in bladder tumorigenesis in vivo. | NA | {
"id": 4319,
"name": "MMP10",
"pos": [
35,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
156,
13
]
} |
Significant CD8+ and/or CD4+ MART-1-specific T-cell responses were observed in 6/11 and 2/4 patients evaluated, respectively, indicating that the E1-deleted adenovirus encoding the cDNA for MART-1/Melan-A (AdVMART1)/DC vaccine activated both helper and killer T cells in vivo. | NA | {
"id": 2315,
"name": "MLANA",
"pos": [
197,
7
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
157,
10
]
} |
In mice, Ptc1 haploinsufficiency and disruption of DNA repair (DNA ligase IV inactivation) or cell cycle regulation (Kip1, Ink4d, or Ink4c inactivation), in conjunction with p53 dysfunction, predispose to medulloblastoma. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
174,
3
]
} | {
"id": "C0278510",
"name": "Childhood Medulloblastoma",
"pos": [
205,
15
]
} |
Multivariate Cox proportional hazards analysis revealed that high BALF CCL15/Alb and poor prognosis were statistically significantly independently correlated in CHP patients (HR 1.1, 95% CI 1.03-1.18, p = 0.004). | biomarker | {
"id": 213,
"name": "ALB",
"pos": [
77,
3
]
} | {
"id": "C0002390",
"name": "Extrinsic allergic alveolitis",
"pos": [
161,
3
]
} |
Levels of IL-18, IL-10, RANTES and beta2-MG of pediatric patients increased as the levels of viral load increased (P < 0.05). | NA | {
"id": 3606,
"name": "IL18",
"pos": [
10,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
93,
10
]
} |
In human retinal microvascular endothelial cells (HRECs), overexpression of Nox4 by adenovirus significantly increased extracellular H2O2 generation, resulting in intensified VEGFR2 activation and exacerbated angiogenesis upon VEGF stimulation. | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
227,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
84,
10
]
} |
Comparing with sham-operated group, the levels of IL-4, TGF-β, PU.1, IRF4, OX40, NIK, RelB-p52 and IL-9 in experimental groups were significantly higher after middle cerebral artery occlusion. | NA | {
"id": 7293,
"name": "TNFRSF4",
"pos": [
75,
4
]
} | {
"id": "C0740391",
"name": "Middle Cerebral Artery Occlusion",
"pos": [
159,
32
]
} |
Indian hedgehog controls proliferation and differentiation in skin tumorigenesis and protects against malignant progression. | NA | {
"id": 3549,
"name": "IHH",
"pos": [
0,
15
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
67,
13
]
} |
These data confirm that the development of AHR is genetically determined, not only in naive mice, but also in actively immunized ones, and cannot be predicted by levels of airway eosinophilia, pulmonary inflammation, total IgE, or antigen-specific IgE. | NA | {
"id": 196,
"name": "AHR",
"pos": [
43,
3
]
} | {
"id": "C0034068",
"name": "Pulmonary Eosinophilia",
"pos": [
179,
23
]
} |
Cellular inhibitor of apoptosis protein cIAP2 protects against pulmonary tissue necrosis during influenza virus infection to promote host survival. | NA | {
"id": 330,
"name": "BIRC3",
"pos": [
40,
5
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
80,
8
]
} |
In this study, we used Chicken collagen II-induced experimental arthritis (CIA) model in Wistar rats to investigate the potential effects of VIP on rheumatoid arthritis. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
141,
3
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
64,
9
]
} |
To test whether the muscarinic and gamma-aminobutyric acid (GABA) system are interconnected in normal cognition and dementia, we examined the muscarinic regulation of GABAergic transmission in PFC of an animal model of AD. | NA | {
"id": 5199,
"name": "CFP",
"pos": [
193,
3
]
} | {
"id": "C0497327",
"name": "Dementia",
"pos": [
116,
8
]
} |
Role of Both Protein C and Antithrombin III as Predictors of stage of liver disease in Chronic Viral Hepatitis B or C Infected patients. | biomarker | {
"id": 462,
"name": "SERPINC1",
"pos": [
27,
16
]
} | {
"id": "C0023895",
"name": "Liver diseases",
"pos": [
70,
13
]
} |
Transcription factor binding sites for Hypoxia inducible factor 1 A (HIF1A) were identified in the promoter region (5 kb upstream) of 30 hypoxia-induced miRNAs. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
69,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
137,
7
]
} |
To explore their genetic backgrounds we investigated TGF-beta type II receptor (TGF-beta RII) and SMAD4 in the TGF-beta signaling pathway, and to identify their mutator phenotype we examined microsatellite instability (MSI) status. | NA | {
"id": 4089,
"name": "SMAD4",
"pos": [
98,
5
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
191,
26
]
} |
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1). | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
10,
4
]
} | {
"id": "C0268490",
"name": "Tyrosinemia, Type I",
"pos": [
103,
18
]
} |
These results suggest that neuroinflammation and oxidative stress in STZ-treated mice are associated with tau hyperphosphorylation, which may contribute to selective neurodegeneration in human AD. | NA | {
"id": 6484,
"name": "ST3GAL4",
"pos": [
69,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
166,
17
]
} |
Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies. | NA | {
"id": 10971,
"name": "YWHAQ",
"pos": [
208,
11
]
} | {
"id": "C0338451",
"name": "Frontotemporal dementia",
"pos": [
235,
23
]
} |
We propose that glioma migration under confinement on laminin relies on formins, including FHOD3, but not Arp2/3 and that the low level of adhesion allows rapid antiparallel migration. | NA | {
"id": 10097,
"name": "ACTR2",
"pos": [
106,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
139,
8
]
} |
The CGGC and GCAT haplotypes carriers were more likely to develop lung cancer. | genomic_alterations | {
"id": 23464,
"name": "GCAT",
"pos": [
13,
4
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
66,
11
]
} |
We have investigated the phenotype of cells positive for IL-4 and IL-5 mRNA in the nasal mucosa of subjects with allergic rhinitis and in bronchoalveolar lavage and bronchial biopsies from atopic asthmatic subjects. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
57,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
189,
6
]
} |
We identified and characterized a novel intronic mutation in the MSX1 gene in a large Chinese pedigree, adding to the small repertoire of MSX1 mutations associated with autosomal dominant tooth agenesis. | NA | {
"id": 4487,
"name": "MSX1",
"pos": [
138,
4
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
188,
14
]
} |
Peripheral blood CD4(+) T cells were purified from 16 subjects with severe glucocorticoid-insensitive asthma and 16 subjects with mild glucocorticoid-sensitive asthma, and cofilin-1 expression was determined by quantitative real-time RT-PCR and Western blotting. | NA | {
"id": 920,
"name": "CD4",
"pos": [
17,
3
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
160,
6
]
} |
PTPRCAP (CD45-AP) is a positive regulator of protein tyrosine phosphatase PTPRC (CD45), which activates Src family kinases implicated in tumorigenesis. | NA | {
"id": 5788,
"name": "PTPRC",
"pos": [
81,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
137,
13
]
} |
The Cox proportional hazards model indicated that the GG genotype of GSTP1 IIe105Val in breast cancer patients was correlated with a lower risk of death from all causes than those with AA genotype. | genomic_alterations | {
"id": 2950,
"name": "GSTP1",
"pos": [
69,
5
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
88,
13
]
} |
MCI subjects carrying the APOE epsilon4 allele showed distinct cognitive and imaging profiles, which appeared to resemble those of early Alzheimer patients. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
26,
4
]
} | {
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
0,
3
]
} |
We also reported the onset of diabetes mellitus (DM), scoliosis, and respiratory problems in patients with Prader-Willi syndrome who were treated with GH. | genomic_alterations | {
"id": 2688,
"name": "GH1",
"pos": [
151,
2
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
30,
17
]
} |
Before Ang II infusion, the PFH and NFH groups did not differ with respect to BP (blood pressure), body mass index, PRA, RBF (renal blood flow) or urinary sodium. | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
116,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
82,
14
]
} |
METHODS: We measure clonogenic radiosensitivity in 39 human tumor cell lines that vary in histological type (colorectal, glioblastoma, prostate, bladder, teratoma, breast, melanoma and liver) and expression of several genes purported to influence radiosensitivity: ATM (ataxia telangiectasia mutated), TP53 (tumor protein 53), CDKN1A (cyclin-dependent kinase N1A), 14-3-3sigma (an isoform of the 14-3-3 gene) and DNA mismatch repair genes . | NA | {
"id": 10971,
"name": "YWHAQ",
"pos": [
396,
6
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
121,
12
]
} |
Hsp60 as a Novel Target in IBD Management: A Prospect. | biomarker | {
"id": 3329,
"name": "HSPD1",
"pos": [
0,
5
]
} | {
"id": "C0022104",
"name": "Irritable Bowel Syndrome",
"pos": [
27,
3
]
} |
The t(16;21)(p11;q22) translocation is a nonrandom chromosomal abnormality found in several types of myeloid leukemia, which show variable cytomorphological features. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
13,
3
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
101,
16
]
} |
We genotyped five LPIN1 polymorphisms and tested for association with resting metabolic rate (RMR), fat oxidation, fasting plasma insulin and glucose concentration, and obesity-related phenotypes, including BMI, body fat percentage, sum of six skinfolds, and waist circumference in 712 subjects of the Quebec Family Study. | NA | {
"id": 23175,
"name": "LPIN1",
"pos": [
18,
5
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
259,
19
]
} |
While CT did not impact on the release of Hsp70, fractionated RT resulted in significantly increased extracellular concentrations of Hsp70 in p53 mutated and WT glioblastoma cells. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
142,
3
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
161,
12
]
} |
We herein report a novel preeclampsia risk locus, ERAP2, in a region of known genetic linkage to this pregnancy-specific disorder. | NA | {
"id": 64167,
"name": "ERAP2",
"pos": [
50,
5
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
25,
12
]
} |
FISH was also used to study gene alterations in retinoblastoma and myeloid leukemias. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
0,
4
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
67,
17
]
} |
The purpose of this study was to evaluate the effects of partial sleep deprivation (PSD) on circulating concentrations of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α) in relation to the secretory profiles of growth hormone (GH), cortisol, and testosterone during a repeated brief sprint interval exercise. ] | NA | {
"id": 3569,
"name": "IL6",
"pos": [
137,
4
]
} | {
"id": "C0037316",
"name": "Sleep Deprivation",
"pos": [
65,
17
]
} |
Previously, it was reported that irradiation can increase the surface expressions of NKG2D ligands on several cancer cell types without increasing the levels of NKG2D ligand transcripts via ataxia telangiectasia mutated and ataxia telangiectasia and Rad3 related (ATM-ATR) pathway, and suggested that radiation therapy might be used to increase the translation of NKG2D ligands. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
268,
3
]
} | {
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
231,
14
]
} |
Down-regualtion of miR-106b induces epithelial-mesenchymal transition but suppresses metastatic colonization by targeting Prrx1 in colorectal cancer. | biomarker | {
"id": 5396,
"name": "PRRX1",
"pos": [
122,
5
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
131,
17
]
} |
FLT3/ITD mutation was found to be associated with the age, leukocytosis and aberrant expression of CD7, although no influence of FLT3/ITD mutation was seen on the clinical outcome of AML patients with normal cytogenetics. | NA | {
"id": 924,
"name": "CD7",
"pos": [
99,
3
]
} | {
"id": "C0023518",
"name": "Leukocytosis",
"pos": [
59,
12
]
} |
The approval of ustekinumab, a monoclonal antibody blocking the common p40 subunit of IL12 and IL23, marked an important evolution in medical management for CD: this novel class of biologic therapy demonstrated efficacy in both patients naïve to biologics as well as in patients experiencing inadequate response or loss of response to TNF antagonists. | genomic_alterations | {
"id": 7124,
"name": "TNF",
"pos": [
335,
3
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
157,
2
]
} |
Although U0126, an ERK inhibitor, enhanced insulin sensitivity and attenuated oxidative stress-induced insulin resistance, LY294002, an inhibitor of phosphoinositide 3-kinase (PI3K), worsened the insulin resistance. | NA | {
"id": 2048,
"name": "EPHB2",
"pos": [
19,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
196,
18
]
} |
Moreover, this is the first report of successful full-term pregnancy and birth of a healthy baby following exclusion of a severe genodermatosis by PGD. | NA | {
"id": 5226,
"name": "PGD",
"pos": [
147,
3
]
} | {
"id": "C0037277",
"name": "Skin Diseases, Genetic",
"pos": [
129,
14
]
} |
Using NR4A1<sup>-/-</sup> mice, which lack patrolling lymphocyte antigen 6C (Ly6C<sup>low</sup> ) monocytes, we found that inflammatory Ly6C<sup>high</sup> monocytes contribute to rapid development of arthritis in a serum transfer-induced arthritis (STIA) model. | biomarker | {
"id": 3111,
"name": "HLA-DOA",
"pos": [
66,
18
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
237,
9
]
} |
HER-2 positivity was noted in 64 (6.1%) of 1,036 gastric cancer patients, including 46 patients whose HER-2 expression level was 3+ on IHC and 18 patients whose FISH results were positive. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
161,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
49,
14
]
} |
ROS accelerated the activation of nuclear factor-kappa B (NF-κB) to promote transcriptional activity of Bax, an action that was accompanied by cytochrome c translocation and apoptosis-inducing factor (AIF) release. | NA | {
"id": 9131,
"name": "AIFM1",
"pos": [
201,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
156,
13
]
} |
METHODS: Three hundred fourteen patients with high-grade carotid stenosis scheduled for CEA consented to participate in this single-center cohort study of cognitive dysfunction. | NA | {
"id": 1048,
"name": "CEACAM5",
"pos": [
88,
3
]
} | {
"id": "C0007282",
"name": "Carotid Stenosis",
"pos": [
57,
16
]
} |
Absent TPMT activity (i.e., in individuals homozygous for a variant TPMT allele) is associated with an increased risk of myelosuppression in patients taking thiopurine drugs. | NA | {
"id": 7172,
"name": "TPMT",
"pos": [
68,
4
]
} | {
"id": "C0854467",
"name": "Myelosuppression",
"pos": [
121,
16
]
} |
The present study was aimed at evaluating whether activation of ORL1 receptors by Ro 64-6198 may reverse the anorectic effect of restraint stress or intracerebroventricular (ICV) CRF injection. | therapeutic | {
"id": 4987,
"name": "OPRL1",
"pos": [
64,
4
]
} | {
"id": "C0003123",
"name": "Anorexia",
"pos": [
109,
9
]
} |
We performed FISH using centromere-specific probes for chromosomes 1, 3, 7, 8, 10, and 11 and chromosomal analysis on PAF cells from 21 patients, including 3 with ovarian cancer, 2 with lymphoma, 5 with adenocarcinoma of unknown origin, 1 with breast cancer, and 10 with atypical lymphocytosis of unknown cause. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
13,
4
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
186,
8
]
} |
Essential hypertension was defined as a systolic blood pressure (SBP) greater than 160 mm Hg and/or a diastolic blood pressure (DBP) greater than 90 mm Hg or use of any antihypertensive treatment by participants. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
128,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
102,
24
]
} |
Based on the MRI findings, we defined the following band subtypes: partial, involving one or two cerebral lobes; intermediate, involving two lobes and a portion of a third; diffuse, with substantial involvement of three or more lobes; and pachygyria-SBH, in which posterior SBH merges with anterior pachygyria. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
13,
3
]
} | {
"id": "C0266483",
"name": "Pachygyria",
"pos": [
299,
10
]
} |
These data are inconsistent with a translocation mechanism involving interchromosomal recombination by simple exchange of DNA topoisomerase II subunits and DNA-strand transfer; however, consistent with reciprocal DNA topoisomerase II cleavage events in MLL and AF-4 in which both breaks became stable, the DNA ends were processed and underwent ligation. | NA | {
"id": 7153,
"name": "TOP2A",
"pos": [
213,
20
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
35,
13
]
} |
PTPN2 gene copy number was assessed by real-time PCR in 215 tumour samples from a treatment randomised study consisting of postmenopausal patients diagnosed with stage II breast cancer 1976-1990. | biomarker | {
"id": 5771,
"name": "PTPN2",
"pos": [
0,
5
]
} | {
"id": "C4528580",
"name": "Prognostic Stage II Breast Cancer AJCC v8",
"pos": [
162,
22
]
} |
However, for melanoma lines exhibiting suppressed translocation of TRAIL to the cell surface, a necrotic mechanism of cell death was primarily involved in radiation response. | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
67,
5
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
96,
8
]
} |
Based on MRI findings, Initial corticosteroid therapy with beta methasone effectively improved the neurological symptoms of consciousness disturbance and motor deficits. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
9,
3
]
} | {
"id": "C0235031",
"name": "Neurologic Symptoms",
"pos": [
99,
21
]
} |
Heterozygous trinucleotide in frame duplications, leading to expansions of variable lengths of a 20-alanine stretch (polyAla), is the most frequent PHOX2B variant associated with congenital central hypoventilation syndrome (CCHS), a rare neurocristopathy characterized by defective response of the autonomic nervous system to hypoxia and hypercapnia. | NA | {
"id": 8929,
"name": "PHOX2B",
"pos": [
148,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
326,
7
]
} |
Enoxaparin-metformin reduces pregnancy loss in women with PCOS with one or more previous SAB, who also have thrombophilia and/or hypofibrinolysis. | NA | {
"id": 9467,
"name": "SH3BP5",
"pos": [
89,
3
]
} | {
"id": "C0398623",
"name": "Thrombophilia",
"pos": [
108,
13
]
} |
In conclusion, these results demonstrate that ephrin-B1 and EphB2 are overexpressed in atherosclerotic tissue and might locally regulate cell migration, possibly through modulating cytokine-related chemotaxic activity; however, the functional role of these molecules in atherogenesis should be investigated further. | NA | {
"id": 2048,
"name": "EPHB2",
"pos": [
60,
5
]
} | {
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
270,
13
]
} |
This work provides novel mechanistic insights into HBV-mediated hepatocarcinogenesis and suggests that miR-132 may be a promising biochemical marker and may have therapeutic applications in HBV-related HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
202,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
64,
20
]
} |
Mutations in the catalytic subunit of phosphoinositide 3-kinase (PIK3CA) and other PI3K-AKT pathway components have been associated with cancer and a wide spectrum of brain and body overgrowth. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
88,
3
]
} | {
"id": "C1849265",
"name": "Overgrowth",
"pos": [
182,
10
]
} |
ALL cells stimulated with CD40L/IL-4 expressed dendritic cell phenotype at mRNA and protein levels (upregulation of main costimulatory and adhesion molecules noted in real-time RT PCR and flow cytometry); they also expressed higher amounts of mRNA for FLICE, TRADD and FADD after CD40L/IL-4 stimulation. | NA | {
"id": 8772,
"name": "FADD",
"pos": [
269,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
139,
8
]
} |
The relevance of GOAT and AG during periods of starvation remains to be defined. | NA | {
"id": 619373,
"name": "MBOAT4",
"pos": [
17,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
47,
10
]
} |
A total of 24 UBE3C single-nucleotide polymorphisms (SNPs) were genotyped in a 467 Korean asthma cohort that was stratified into more homogenous phenotypes of 114 aspirin-exacerbated respiratory disease subgroup and 353 aspirin-tolerant asthma (ATA) subjects. | NA | {
"id": 9690,
"name": "UBE3C",
"pos": [
14,
5
]
} | {
"id": "C0035204",
"name": "Respiration Disorders",
"pos": [
183,
19
]
} |
To examine if the genes encoding complement factor H (CFH), apolipoprotein E (APOE), and elongation of very-long-chain fatty acids-like 4 (ELOVL4) confer risk of neovascular age-related macular degeneration (AMD) in an independent or interactive manner when controlling for smoking exposure. | NA | {
"id": 3075,
"name": "CFH",
"pos": [
54,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
274,
7
]
} |
We observed diverse pathways including EGFR, hypoxia, cAMP, and protein ubiquitination that, when co-treated with RNAi and neratinib, resulted in arrest of cell proliferation. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
39,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
45,
7
]
} |
The content of IL-6 (ELISA) in the conditioned media obtained from testicular macrophages of rats with orchitis was significantly higher than in the control group. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
15,
4
]
} | {
"id": "C0029191",
"name": "Orchitis",
"pos": [
103,
8
]
} |
These data strongly suggest that despite its attractive function as a modulator of beta-catenin activity, Chibby is not involved in Wilms tumorigenesis. | NA | {
"id": 25776,
"name": "CBY1",
"pos": [
106,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
138,
13
]
} |
LPS-induced EMT is critical for inflammation-initiated metastasis. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
12,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
32,
12
]
} |
In conclusion, our results showed that <i>survivin</i> genetic variants were related to EGFR mutation in lung adenocarcinoma patients and might contribute to pathological development to NSCLC. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
100,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
117,
19
]
} |
Of these, N-terminal pro-B-type natriuretic peptide (P=0.0032), adrenomedullin (P=0.018), and eosinophil cationic protein (P=0.0071) were replicated in ULSAM after adjustment for established stroke risk factors. | genomic_alterations | {
"id": 133,
"name": "ADM",
"pos": [
64,
14
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
191,
6
]
} |
A surgical model of rat esophageal tumorigenesis, promoted by gastric or duodenal reflux was used to determine CYP1B1 expression in premalignant esophageal tissue. | NA | {
"id": 1545,
"name": "CYP1B1",
"pos": [
111,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
35,
13
]
} |
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