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To address this, we utilized a large cohort of resected tumors from 442 lung adenocarcinoma patients with data including annotation of prevalent driver mutations (KRAS and EGFR) and tumor suppressor mutations (STK11 and TP53), microarray-based gene expression and clinical covariates, including overall survival (OS). | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
172,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
182,
5
]
} |
The prognostically important 1;19 chromosomal translocation can alter the E2A gene on chromosome 19p13 in childhood B-cell precursor acute lymphoblastic leukemia (ALL), leading to formation of a fusion gene (E2A-PBX1) that encodes a hybrid transcription factor with oncogenic potential. | NA | {
"id": 5087,
"name": "PBX1",
"pos": [
212,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
34,
25
]
} |
Although cAMP elevation did not alter the sensitivity of metastatic melanoma cells to BRAF(V600E) and MEK inhibitors, the EPAC-RAP1 axis appears to contribute to resistance to MAPK pathway inhibition. | genomic_alterations | {
"id": 11069,
"name": "RAPGEF4",
"pos": [
122,
4
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
57,
19
]
} |
For example, there was an increase in the expression of ERG, K(v)LQT1, K(ir)2.4, TASK1, TWIK1, TWIK2, calsequestrin 2, and the A1 adenosine receptor in the SAN that could explain the slowing of the intrinsic heart rate. | NA | {
"id": 80218,
"name": "NAA50",
"pos": [
156,
3
]
} | {
"id": "C0018810",
"name": "heart rate",
"pos": [
208,
10
]
} |
The Attitudes Toward Medication-Depression (ATM-D) Inventory was developed and tested with 131 patients in primary care settings who reported a diagnosis of depression. | biomarker | {
"id": 472,
"name": "ATM",
"pos": [
44,
3
]
} | {
"id": "C0011570",
"name": "Mental Depression",
"pos": [
157,
10
]
} |
Here, we hypothesized that H2 attenuates endothelial injury and inflammation via an Nrf2-mediated HO-1 pathway during sepsis. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
84,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
64,
12
]
} |
This study was designed to investigate the effects of adrenocorticotropic hormone (ACTH) on systolic blood pressure (BP) and serum erythropoietin (EPO) concentrations in two strains of rats. | NA | {
"id": 2056,
"name": "EPO",
"pos": [
147,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
101,
14
]
} |
No statistical interactions were detected between CV intake and GST gene variants on the odds of CRC. | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
64,
3
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
97,
3
]
} |
DBC1 KO mice fed a high-fat diet, although obese, remained insulin sensitive, had lower free fatty acid in plasma, were protected against atherosclerosis and liver steatosis, and lived longer. | genomic_alterations | {
"id": 57805,
"name": "CCAR2",
"pos": [
0,
4
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
138,
15
]
} |
Our studies revealed a novel amplification unit at 3q25-q27 in prostate carcinoma, with the genes IL12A, MDS1, SLC2A2, and SOX2 being located within the amplification unit. | biomarker | {
"id": 6657,
"name": "SOX2",
"pos": [
123,
4
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
63,
18
]
} |
Our results indicate an important role for the HRG C633T SNP in the occurrence of recurrent miscarriage. | genomic_alterations | {
"id": 3273,
"name": "HRG",
"pos": [
47,
3
]
} | {
"id": "C4552766",
"name": "Miscarriage",
"pos": [
92,
11
]
} |
The RWR algorithm pointed to ZAP70 in the first rank, in which mutation causes RA-like autoimmune arthritis in mice. | genomic_alterations | {
"id": 7535,
"name": "ZAP70",
"pos": [
29,
5
]
} | {
"id": "C3160909",
"name": "Autoimmune arthritis",
"pos": [
87,
20
]
} |
Our results suggest that GST polymorphisms may be a susceptibility factor to smoking-related CAD in the Chinese population. | NA | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
25,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
77,
7
]
} |
The transfection of phosphatidylinositol-glycan class A (PIG-A) cDNA into Ramos(-) cells restored DAF and CD59 expression, indicating that the defective mechanism in GPI anchor formation is similar to that in paroxysmal noctural haemoglobinuria (PNH) cells, i.e. | NA | {
"id": 966,
"name": "CD59",
"pos": [
106,
4
]
} | {
"id": "C0019048",
"name": "Hemoglobinuria",
"pos": [
229,
15
]
} |
Following transplant, the patient became asymptomatic in concordance with an increase in the percentage of peripheral blood cells with normal expression of glycosyl phosphatidylinositol-anchored proteins (GPI-AP). | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
205,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
41,
12
]
} |
Patients with mild diseases were also more likely to have medium MBL levels than high levels. | NA | {
"id": 4153,
"name": "MBL2",
"pos": [
65,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
14,
4
]
} |
Germline mutations in hepatocyte nuclear factor 1alpha (TCF1/HNF-1alpha) are associated with maturity-onset diabetes of the young type 3 (MODY3), and somatic biallelic inactivations of the gene are found in hepatocellular adenomas and liver adenomatosis. | genomic_alterations | {
"id": 6927,
"name": "HNF1A",
"pos": [
56,
4
]
} | {
"id": "C0206669",
"name": "Hepatocellular Adenoma",
"pos": [
207,
23
]
} |
TXNDC9 promotes PCa cell survival and proliferation. | biomarker | {
"id": 10190,
"name": "TXNDC9",
"pos": [
0,
6
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
16,
3
]
} |
Consequently, STAT3 inhibition provides a possible therapeutic target also for lymphomas with SQSTM1-ALK variant translocation. | NA | {
"id": 6774,
"name": "STAT3",
"pos": [
14,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
113,
13
]
} |
The objective of the present study was to determine the role of PTEN in pulmonary vascular remodeling using established models of PH. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
64,
4
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
82,
19
]
} |
In this study in 79 metastatic melanoma (MM) patients and 52 controls NK activity, expression of activating NKG2D and CD161 receptors and KIR receptors, CD158a and CD158b, on freshly isolated PBL and NK cells were evaluated. | NA | {
"id": 3820,
"name": "KLRB1",
"pos": [
118,
5
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
20,
19
]
} |
Thirty-two matched normal-gastric adenocarcinoma DNA pairs were studied for MSI status and hypermethylation of HPP1 and hMLH1. | NA | {
"id": 780897,
"name": "HPP1",
"pos": [
111,
4
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
26,
22
]
} |
Conventional real-time PCR-based detection of T790M using tumor tissue or blood in patients with EGFR TKI-resistant NSCLC. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
97,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
58,
5
]
} |
To evaluate expression domains and the pathogenic significance of SIX2 and CITED1 across WT, the Children's Oncology Group provided 40 WT specimens of stages I to IV (n = 10 per stage), which were enriched for unfavorable histology (n = 20) and treatment failure (relapse or death, n = 20). | biomarker | {
"id": 4435,
"name": "CITED1",
"pos": [
75,
6
]
} | {
"id": "C0027708",
"name": "Nephroblastoma",
"pos": [
89,
2
]
} |
Extracellular superoxide dismutase (EC-SOD) is a potent antioxidant that plays an important role in controlling oxidant-mediated stress and inflammation. | NA | {
"id": 6649,
"name": "SOD3",
"pos": [
36,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
140,
12
]
} |
The functional role of p130Cas in ErbB2-dependent breast tumorigenesis was assessed by its silencing in breast cancer cells derived from mouse mammary tumors overexpressing ErbB2 (N202-1A cells), and by its reexpression in ErbB2-transformed p130Cas-null mouse embryonic fibroblasts. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
224,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
58,
13
]
} |
A large case-control study of malaria in West African children shows that a human leucocyte class I antigen (HLA-Bw53) and an HLA class II haplotype (DRB1*1302-DQB1*0501), common in West Africans but rare in other racial groups, are independently associated with protection from severe malaria. | genomic_alterations | {
"id": 3123,
"name": "HLA-DRB1",
"pos": [
150,
4
]
} | {
"id": "C2747816",
"name": "Complicated malaria",
"pos": [
279,
14
]
} |
The association between COPD exacerbation and MUC1 fragment levels was analyzed. | biomarker | {
"id": 4582,
"name": "MUC1",
"pos": [
46,
4
]
} | {
"id": "C0740304",
"name": "COPD exacerbation",
"pos": [
24,
17
]
} |
To determine whether the autoantibody isotype contributes to the onset and severity of arthritis, PG-specific serum IgG1 (Th2, IL-4-cytokine-supporting) and IgG2a (Th1, IFN-gamma-controlling) concentrations were monitored during immunization with PG in IL-4-deficient and IFN-gamma-deficient mice. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
164,
3
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
87,
9
]
} |
Because homozygous deletions of GST gene might be associated with cancer risk, a better understanding of chemical metabolizing gene distribution can contribute to risk assessment of humans exposed to environmental carcinogens. | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
32,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
66,
6
]
} |
Here, to address prognostic significance of miR-218 in breast cancer, we investigate the expression profile of miR-218 and B-cell-specific Moloney murine leukemia virus integration site 1 ( BMI1) gene, as one of the putative targets of miR-218, in 33 paired breast tumors and their adjacent normal tissues with respect to the clinicopathological features of patients using quantitative real-time polymerase chain reaction. | genomic_alterations | {
"id": 648,
"name": "BMI1",
"pos": [
190,
4
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
258,
13
]
} |
In 56 specimens [CCH, n=1; MTC with CCH, n=26; MTC, n=20; lymph-node metastasis (LNM), n=9] from 46 patients [multiple endocrine neoplasia type 2a (MEN2a), n=24; MEN2b, n=2; familiar MTC (FMTC), n=4; sporadic MTC, n-16] and 3 cases of non-neoplastic CCH, proliferation activity (MIB1), the rate of apoptosis [dUTP nick end labelling (TUNEL)] and expression of p53, bcl-2, bcl-x and bax were investigated and compared with clinical data. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
366,
5
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
236,
14
]
} |
Taken together, our data suggest that CLU may regulate EMT and aggressive behaviour of human lung adenocarcinoma cells through modulating ERK signalling and Slug expression. | NA | {
"id": 2048,
"name": "EPHB2",
"pos": [
138,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
63,
20
]
} |
The aim of this study is to investigate if the LLLT modulates the acute and chronic phase of collagenase-induced tendinitis in rat by interfering in mRNA expression for matrix metalloproteinases (MMP13 and MMP1), vascular endothelial growth factor (VEGF), and anti-inflammatory mediator (interleukin (IL)-10). | NA | {
"id": 4322,
"name": "MMP13",
"pos": [
196,
5
]
} | {
"id": "C0039503",
"name": "Tendinitis",
"pos": [
113,
10
]
} |
Interestingly, the frequency of p21(wap1/cip1) variants (codon 149) in ESCCs (18 of 19 cases) with wild-type p53 was significantly higher than in tumors with p53 mutations, suggesting that this polymorphism affects the p53 pathway and may play an important role in esophageal tumorigenesis. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
41,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
276,
13
]
} |
We conclude that lowering parathyroid hormone with a calcimimetic significantly improves cardiac histology and function but not the left ventricular mass in SNX. | NA | {
"id": 5741,
"name": "PTH",
"pos": [
26,
19
]
} | {
"id": "C0455825",
"name": "Left ventricular mass",
"pos": [
132,
21
]
} |
Microsatellite instability and p53 mutation associated with tumor progression in dermatofibrosarcoma protuberans. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
31,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
60,
17
]
} |
Pulmonary function impairment predicted poor prognosis of patients with hepatocellular carcinoma after hepatectomy. | biomarker | {
"id": 450095,
"name": "PLF",
"pos": [
0,
18
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
72,
24
]
} |
The eligible studies regarding the relationship between MCP-1 2518 A>G gene polymorphism and CKD risk were searched through electronic databases. | genomic_alterations | {
"id": 6347,
"name": "CCL2",
"pos": [
56,
5
]
} | {
"id": "C1561643",
"name": "Chronic Kidney Diseases",
"pos": [
96,
3
]
} |
DOCK4 is a strong tumor suppressor candidate, required for GTPase activation in signal transduction pathways controlling cellular proliferation, adhesion, migration and phagocytosis. | biomarker | {
"id": 9732,
"name": "DOCK4",
"pos": [
0,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
18,
5
]
} |
A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes. | NA | {
"id": 2332,
"name": "FMR1",
"pos": [
71,
4
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
26,
17
]
} |
The double mutation A1762T-G1764A was more prevalent in patients with advanced liver disease (AdLD) and was associated with higher alanine aminotransferase and viral load. | NA | {
"id": 2875,
"name": "GPT",
"pos": [
131,
24
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
160,
10
]
} |
Hair follicle (HF) growth and regression is an exquisitely regulated process of cell proliferation followed by massive cell death and is accompanied by cyclical expression of the apoptosis regulatory gene pair, Bcl-2 and Bax. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
211,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
30,
10
]
} |
In conclusion, we unveiled the roles of IL21R in breast cancer cells, which enhances our knowledge on immunological regulation of cancer cells through the axis of IL21 and its receptor. | NA | {
"id": 50615,
"name": "IL21R",
"pos": [
40,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
49,
13
]
} |
Indeed, crosstalk between renal Ent1 and Adora2b expressed on vascular endothelia effectively prevented a postischemic no-reflow phenomenon. | NA | {
"id": 2030,
"name": "SLC29A1",
"pos": [
32,
4
]
} | {
"id": "C0232347",
"name": "No-Reflow Phenomenon",
"pos": [
119,
20
]
} |
<i>Epidermal growth factor receptor</i> mutation analysis in non-small cell lung cancer is important for selecting patients who will receive treatment with tyrosine kinase inhibitors. | genomic_alterations | {
"id": 1950,
"name": "EGF",
"pos": [
9,
23
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
73,
26
]
} |
Our aim was to evaluate the expression of miR-16, miR-20a, miR-150 and miR-155 in several grades of ASIL obtained from high-risk patients, submitted to anal cancer screening from July 2016 to January 2017. | biomarker | {
"id": 406947,
"name": "MIR155",
"pos": [
71,
7
]
} | {
"id": "C0279637",
"name": "Anal carcinoma",
"pos": [
152,
11
]
} |
A genetic epidemiological study of hereditary prostate cancer (HPC) in Finland: frequent HPCX linkage in families with late-onset disease. | genomic_alterations | {
"id": 9566,
"name": "HPCX",
"pos": [
89,
4
]
} | {
"id": "C4722328",
"name": "Hereditary Prostate Carcinoma",
"pos": [
35,
26
]
} |
We evaluated 17 SNPs of the CDA, dCK, DCTD, RRM1, hCNT1, hCNT2, hCNT3, and hENT1 genes in 154 patients with potentially resectable pancreatic adenocarcinoma who were enrolled in clinical trials at The University of Texas M.D. | NA | {
"id": 1635,
"name": "DCTD",
"pos": [
38,
4
]
} | {
"id": "C0861748",
"name": "Pancreatic adenocarcinoma resectable",
"pos": [
120,
36
]
} |
AR transactivation in the presence of androstanediol in prostate cancer cell lines correlated mainly with mRNA and protein levels of 17β-hydroxysteroid dehydrogenase 6 (17β-HSD6), one of several enzymes required for the interconversion of androstanediol to DHT and the inactive metabolite androsterone. | NA | {
"id": 6060,
"name": "RNU1-4",
"pos": [
173,
4
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
56,
15
]
} |
We analyzed microarray data of GCS expression in a large cohort of 1,681 breast tumors. | biomarker | {
"id": 7357,
"name": "UGCG",
"pos": [
31,
3
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
73,
13
]
} |
Inherited thrombophilia is a risk factor for dural sinus thrombosis (DST). | NA | {
"id": 667,
"name": "DST",
"pos": [
69,
3
]
} | {
"id": "C0398623",
"name": "Thrombophilia",
"pos": [
10,
13
]
} |
High expression of ADH 1A (class 1), α polypeptide (<i>ADH1A;</i> log-rank P=0.043; HR=0.79; 95% CI: 0.64-0.99), ADH 1B (class 1), β polypeptide (<i>ADH1B</i>; log-rank P=1.9×10<sup>-05</sup>; HR=0.65; 95% CI: 0.53-0.79) and ADH 5 (class III), χ polypeptide (<i>ADH5</i>; log-rank P=0.0011; HR=0.73; 95% CI: 0.6-0.88) resulted in a significantly decreased risk of mortality in all patients with GC compared with patients with low expression of those genes. | genomic_alterations | {
"id": 128,
"name": "ADH5",
"pos": [
261,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
443,
2
]
} |
Suppression of corneal TRPV1 activation by CB1 is indicated since following alkali burning, CB1 activation with WIN55,212-2 (WIN) reduced immune cell stromal infiltration and scarring. | NA | {
"id": 1268,
"name": "CNR1",
"pos": [
92,
3
]
} | {
"id": "C2004491",
"name": "Cicatrix",
"pos": [
175,
8
]
} |
We here performed a genome-wide association study (GWAS) of 178 KD patients to identify the genetic loci that influence 10 important KD laboratory markers: WBC count, neutrophil count, platelet count, CRP, ESR, hemoglobin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), albumin, and total protein. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
201,
3
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
211,
10
]
} |
Decreased concentrations of DAZ family members in men with spermatogenic failure may be due to the secondary effect of germ cell loss, and transcriptional control of BOULE, DAZL, and DAZ are not altered in the various degrees of spermatogenic failure. | NA | {
"id": 66037,
"name": "BOLL",
"pos": [
166,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
99,
9
]
} |
In myxoid and round cell liposarcomas, a specific chromosomal translocation [(12;16)(q13;p11)] results in the expression of chimeric fusion transcripts encompassing parts of the FUS gene (16p11) at their 5' ends and the CHOP gene (12q13) at their 3' ends. | genomic_alterations | {
"id": 2521,
"name": "FUS",
"pos": [
178,
3
]
} | {
"id": "C0206634",
"name": "Liposarcoma, Myxoid",
"pos": [
14,
23
]
} |
The purpose of this study was to detect the association between the MDR1 genetic variants and breast cancer susceptibility. | genomic_alterations | {
"id": 5243,
"name": "ABCB1",
"pos": [
68,
4
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
94,
13
]
} |
RER+ rate was much higher in the therapy-related and secondary cases compared with the de novo cases. | NA | {
"id": 3550,
"name": "IK",
"pos": [
0,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
53,
9
]
} |
Mutations in TRPV3 are associated with various skin diseases, including Olmsted syndrome, atopic dermatitis, and rosacea. | genomic_alterations | {
"id": 162514,
"name": "TRPV3",
"pos": [
13,
5
]
} | {
"id": "C0037274",
"name": "Dermatologic disorders",
"pos": [
47,
13
]
} |
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups. | genomic_alterations | {
"id": 10660,
"name": "LBX1",
"pos": [
76,
4
]
} | {
"id": "C0410702",
"name": "Adolescent idiopathic scoliosis",
"pos": [
27,
31
]
} |
Patients with low-T3 syndrome had a shorter duration of HD (49.1 vs. 73.3, p = 0.01), and lower serum albumin (35.1 vs. 40.4 g/L, p<0.001), left ventricular ejection fraction (LVEF; 54.7% vs. 63.9%, p<0.001), and fractional shortening at endocardial levels (endoFS; 29.3% vs. 34.8%, p = 0.001) compared to those with normal fT3 levels. | biomarker | {
"id": 213,
"name": "ALB",
"pos": [
96,
13
]
} | {
"id": "C0024043",
"name": "Low T3 Syndrome",
"pos": [
14,
15
]
} |
Neutrophil accumulation at sites of inflammation is mediated by specific groups of cell adhesion molecules including the beta2 (CD18) integrins on leukocytes and the selectins (P- and E-selectin on the endothelium and L-selectin on the leukocyte). | NA | {
"id": 6402,
"name": "SELL",
"pos": [
218,
10
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
36,
12
]
} |
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. | genomic_alterations | {
"id": 2743,
"name": "GLRB",
"pos": [
32,
26
]
} | {
"id": "C0234166",
"name": "Hyperexplexia",
"pos": [
74,
15
]
} |
Snail-1 actively participates in tumor progression, invasion, and migration. | biomarker | {
"id": 6615,
"name": "SNAI1",
"pos": [
0,
7
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
33,
17
]
} |
The pro‑apoptotic protein Bcl‑2‑associated X protein (Bax) and the tumor suppressor p53 were increased, while the anti‑apoptotic protein B‑cell lymphoma 2 was decreased in MUC1 gene‑silenced cells. | biomarker | {
"id": 4582,
"name": "MUC1",
"pos": [
172,
4
]
} | {
"id": "C0079731",
"name": "B-Cell Lymphomas",
"pos": [
137,
15
]
} |
Complete data on the polymorphisms of CYP1A1, GSTM1 and p53 genes in Tundra Nentsi population, with known genealogical history are essential for the analysis of the "cancer susceptibility gene markers" distribution among different Oriental populations. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
56,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
166,
6
]
} |
CTNNB1 mutation was confirmed in most basal cell adenomas tested, and findings in basal cell adenocarcinoma suggest possible tumorigenic mechanisms, including alterations in PI3K and NF-κB pathways and transcriptional regulation. | genomic_alterations | {
"id": 5293,
"name": "PIK3CD",
"pos": [
174,
4
]
} | {
"id": "C0205641",
"name": "Adenocarcinoma, Basal Cell",
"pos": [
82,
25
]
} |
In conclusion, we describe an Italian family harboring a novel heterozygous c.290C>G (p.S97C) mutation in ORAI1 causing a mild- and late-onset TAM and congenital miosis via constitutive activation of the CRAC channel. | genomic_alterations | {
"id": 84876,
"name": "ORAI1",
"pos": [
109,
5
]
} | {
"id": "C1303009",
"name": "Microcoria, congenital",
"pos": [
154,
17
]
} |
Chromosomal analysis of the mother was normal and the phenotypically normal father had apparently identical translocation t(11;16)(p13;q24.3). | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
131,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
108,
13
]
} |
Correlation of EGFR mutation and predominant histologic subtype according to the new lung adenocarcinoma classification in Chinese patients. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
15,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
85,
19
]
} |
These results demonstrated that down-regulation or loss of PTEN, which may not be able to effectively inhibit the hyper-phosphorylation of PKB/AKT, might play an important role in tumorigenesis and progression of HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
213,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
180,
13
]
} |
Thus far, there is very limited data combining BRAF and NRAS mutation analysis to explore differences between cutaneous melanoma subtypes. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
56,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
110,
18
]
} |
Interleukin (IL)-17A and IL-17F are inflammatory cytokines expressed by a novel subset of CD4+ Th cells and play critical function in inflammation and probably in cancer. | NA | {
"id": 920,
"name": "CD4",
"pos": [
90,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
134,
12
]
} |
This approach involved screening of a subtracted cDNA library prepared from human melanoma cells induced to terminally differentiate by treatment with fibroblast IFN and mezerein with mRNA derived from senescent human progeria cells. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
162,
3
]
} | {
"id": "C0033300",
"name": "Progeria",
"pos": [
218,
8
]
} |
Results showed that cycling hypoxia led to an enhanced inflammation in tumors as prostaglandin-endoperoxide synthase 2 (PTGS2), IL-6, CXCL1 (C-X-C motif ligand 1), and macrophage inflammatory protein 2 (murine IL-8 functional homologs) mRNA expression was increased and as a higher leukocyte infiltration was evidenced. | NA | {
"id": 2920,
"name": "CXCL2",
"pos": [
168,
33
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
28,
7
]
} |
In contrast, the IL28B genotype does not affect disease progression such as hepatic fibrosis. | genomic_alterations | {
"id": 282617,
"name": "IFNL3",
"pos": [
17,
5
]
} | {
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
76,
16
]
} |
The role of HLA-A*6802-restricted CD8+ T cells in chlamydial disease was investigated in human ocular infections. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
34,
3
]
} | {
"id": "C0015403",
"name": "Eye Infection",
"pos": [
95,
17
]
} |
Tuberous sclerosis complex 1 (TSC1) inhibits mammalian target of rapamycin (mTOR), a central promotor of cell growth and proliferation. | genomic_alterations | {
"id": 7248,
"name": "TSC1",
"pos": [
30,
4
]
} | {
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
0,
26
]
} |
Recently, high-dose TMT (2.8 mg/kg) has been shown to produce neurodegeneration and subsequent neurogenesis specifically in the hippocampal dentate gyrus of mice, indicating that mice injected with TMT serve as a useful in vivo model to study neurogenesis as well as neurodegeneration in this brain region. | NA | {
"id": 25823,
"name": "TPSG1",
"pos": [
198,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
267,
17
]
} |
In conclusion, we report that MUC1 acts in renal cancer progression and MUC1-C nuclear localization drives invasiveness of cancer cells through a sheddase/gamma secretase dependent pathway. | NA | {
"id": 4582,
"name": "MUC1",
"pos": [
72,
4
]
} | {
"id": "C0740457",
"name": "Malignant neoplasm of kidney",
"pos": [
43,
12
]
} |
Taken together, p53 function is a primary target for esophageal carcinogenesis but there is no apparent correlation with the malignant phenotype in ESCC. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
16,
3
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
53,
10
]
} |
We evaluated the hypothesis that YAP is more activated in injured livers that are scarring than in those that are regenerating effectively. | NA | {
"id": 10413,
"name": "YAP1",
"pos": [
33,
3
]
} | {
"id": "C2004491",
"name": "Cicatrix",
"pos": [
82,
8
]
} |
However, within the context of chromosomal instability, the effect of MLH1 on cell numbers is limited. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
70,
4
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
31,
23
]
} |
To document further the nature of the amyloid in these entities, detailed morphological, histochemical, immunological, and structural analyses of specimens obtained from 14 individuals with SSA and 11 Swedish FAP patients have been performed. | NA | {
"id": 811,
"name": "CALR",
"pos": [
190,
3
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
38,
7
]
} |
We recently reported that the expression of dbpA (DNA binding protein A) is associated with advanced stages of human hepatocellular carcinoma (HCC) and that its transcription is positively regulated by E2F1, which is also implicated in hepatocarcinogenesis. | NA | {
"id": 8531,
"name": "YBX3",
"pos": [
44,
4
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
236,
20
]
} |
Together, our results suggest that polymorphisms or haplotypes of the EGFR play an important role in the development of lung cancer in Taiwan, particularly in never-smoking female lung adenocarcinoma. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
70,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
180,
19
]
} |
The E3 ubiquitin ligase EDD modifies substrate proteins through ubiquitination and is involved in the regulation of cell proliferation and tumorigenesis. | biomarker | {
"id": 51366,
"name": "UBR5",
"pos": [
24,
3
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
139,
13
]
} |
Since a missense mutation in the homeobox gene, MSX1, was previously linked to tooth agenesis in a single family lacking second premolars and third molars, we performed a mutational analysis of MSX1 by PCR. | NA | {
"id": 4487,
"name": "MSX1",
"pos": [
194,
4
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
79,
14
]
} |
Second, bortezomib inhibits expression of HIF-1α protein under both normoxic and hypoxic conditions, represses HIF-1 transcriptional activity and attenuates the release of vascular endothelial growth factor. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
42,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
81,
7
]
} |
Tiparp ADP-ribosylated AHR but not its dimerization partner, the AHR nuclear translocator, and the repressive effects of TIPARP on AHR were reversed by the macrodomain containing mono-ADP-ribosylase MACROD1 but not MACROD2. | NA | {
"id": 23038,
"name": "WDTC1",
"pos": [
184,
3
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
179,
4
]
} |
One hundred and eighty recursive partitioning and regression tree (RPART) models were generated to predict biochemical recurrence (BCR) within HS cancer patients using NOXA, PUMA, and clinical parameters. | NA | {
"id": 613,
"name": "BCR",
"pos": [
131,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
50,
10
]
} |
In contrast to subcutaneous rhCNTF, which caused a 20-30% decrease in body weight in neonatal rats between postnatal days 2 and 7 together with a considerable fat mobilization in brown adipose tissue, TAT-CNTF lacked such side effects. | NA | {
"id": 6898,
"name": "TAT",
"pos": [
201,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
70,
11
]
} |
Here, the role of SPARC in cancer progression and its potential application in cancer therapy is discussed. | biomarker | {
"id": 6678,
"name": "SPARC",
"pos": [
18,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
79,
6
]
} |
We tested the hypothesis of an association between the serotonin transporter (5-HTT) gene regulatory region polymorphism and the Temperament and Character Inventory (TCI) personality dimension of Harm Avoidance. | NA | {
"id": 56925,
"name": "LXN",
"pos": [
166,
3
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
171,
21
]
} |
In vitro, DTEGF13 selectively killed the human glioblastoma cell line U87-luc as well as other human glioblastomas. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
71,
3
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
48,
12
]
} |
Association between cancer risk and drug-metabolizing enzyme gene (CYP2A6, CYP2A13, CYP4B1, SULT1A1, GSTM1, and GSTT1) polymorphisms in cases of lung cancer in Japan. | genomic_alterations | {
"id": 1548,
"name": "CYP2A6",
"pos": [
67,
6
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
20,
6
]
} |
The purpose of this study was to evaluate the safety and efficacy of LIT using urokinase in patients with acute ischemic stroke of the anterior or posterior circulation and to determine the influence of clinical and radiological parameters on outcome. | NA | {
"id": 8794,
"name": "TNFRSF10C",
"pos": [
69,
3
]
} | {
"id": "C0948008",
"name": "Ischemic stroke",
"pos": [
112,
15
]
} |
<i>In vitro</i>, GDC-0084 considerably decreased cell viability, induced apoptosis, and inhibited phosphorylation of Akt and p70 S6 kinase in a dose-dependent manner in <i>PIK3CA</i>-mutant breast cancer brain metastatic cell lines. | biomarker | {
"id": 84959,
"name": "UBASH3B",
"pos": [
137,
3
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
214,
13
]
} |
Analysis of genomic DNA of 126 lung adenocarcinoma patients for the Met juxtamembrane domain revealed the same Arg/Cys variation at the mouse homologous position in one patient; two other patients carried additional variants in the same domain, suggesting a potential role for rare MET juxtamembrane variants in human lung cancer. | genomic_alterations | {
"id": 4233,
"name": "MET",
"pos": [
282,
3
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
318,
11
]
} |
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