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|---|---|---|---|
Control of parasite replication exerted by MHC class I restricted CD8+ T-cells in the liver is critical for vaccination-induced protection against malaria. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
66,
3
]
} | {
"id": "C0024530",
"name": "Malaria",
"pos": [
147,
7
]
} |
RelA translocation and calpastatin elevation were prevented when dissociation of the NF-κB/IκB complex was inhibited either by transfection with the non-phosphorylatable IκB mutant ΔNIκBα, or by using PS1145, an inhibitor of the IκB kinase (IKK complex). | NA | {
"id": 831,
"name": "CAST",
"pos": [
23,
11
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
65,
12
]
} |
Culturing the cells under hypoxic conditions resulted in an increase in HIF-1alpha and VEGF mRNAs. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
72,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
26,
7
]
} |
Immunohistochemically, strongly positive staining of OPG was found in 65% (67/103) of gastric carcinomas, whereas OPG protein was not detected in non-neoplastic mucosal epithelia. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
114,
3
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
146,
14
]
} |
JUN siRNA regulates matrix metalloproteinase-2 expression, microvascular endothelial growth and retinal neovascularisation. | NA | {
"id": 3725,
"name": "JUN",
"pos": [
0,
3
]
} | {
"id": "C0035320",
"name": "Retinal Neovascularization",
"pos": [
96,
26
]
} |
The results of the present study revealed that TFPI-2 interacts with PSAP, which may play an important role in the physiology and pathology of diseases such as cancer. | biomarker | {
"id": 5660,
"name": "PSAP",
"pos": [
69,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
160,
6
]
} |
Two critical genes (HLA-DRB1 and ABCF1)in the HLA region are associated with the susceptibility to autoimmune pancreatitis. | genomic_alterations | {
"id": 3123,
"name": "HLA-DRB1",
"pos": [
20,
8
]
} | {
"id": "C2609129",
"name": "Autoimmune pancreatitis",
"pos": [
99,
23
]
} |
In this report we demonstrate the expression of DPP-IV and homologous proteases fibroblast activation protein, DPP8 and DPP9 in primary cell cultures derived from high-grade gliomas, and show that the DPP-IV-like enzymatic activity is negatively associated with their in vitro growth. | NA | {
"id": 91039,
"name": "DPP9",
"pos": [
120,
4
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
174,
7
]
} |
Together, these results elucidate how the EMT regulator Snail contributes to inflammation associated with PDAC tumors. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
42,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
77,
12
]
} |
Mutations in the cytosine-5 RNA methyltransferase NSun2 cause microcephaly and other neurological abnormalities in mice and human. | genomic_alterations | {
"id": 54888,
"name": "NSUN2",
"pos": [
50,
5
]
} | {
"id": "C0025958",
"name": "Microcephaly",
"pos": [
62,
12
]
} |
An adventitial IL-6/MCP1 amplification loop accelerates macrophage-mediated vascular inflammation leading to aortic dissection in mice. | biomarker | {
"id": 3569,
"name": "IL6",
"pos": [
15,
4
]
} | {
"id": "C0340643",
"name": "Dissection of aorta",
"pos": [
109,
17
]
} |
We investigated the polymorphisms of 14 adhesion molecules (CD2, CD28, CD31, CD34, CD36, CD42, CD44, CD48, CD49b, CD54, CD62L, CD86, CD102, and CD106) in Japanese subjects and their association with the occurrence of GVHD after allogeneic HLA identical BMT. | NA | {
"id": 3384,
"name": "ICAM2",
"pos": [
133,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
40,
8
]
} |
Expression of inhibin betaA-subunit, follistatin, betaglycan, ActRIIA, ActRIIB and CYP17 differed between nontumorous adrenals and carcinomas. | NA | {
"id": 93,
"name": "ACVR2B",
"pos": [
71,
7
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
131,
10
]
} |
DANCR associated with EZH2 and HDAC3 to epigenetically silence lncRNA-LET and then regulated GC migration and invasion. | biomarker | {
"id": 8841,
"name": "HDAC3",
"pos": [
31,
5
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
93,
2
]
} |
The expression of the lymphocyte adhesion molecules beta-1 integrin CD29, beta-2 integrin CD11b and L-selectin Leu8 (CD62L) was analyzed by cytofluorometry. | NA | {
"id": 3684,
"name": "ITGAM",
"pos": [
90,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
33,
8
]
} |
In the present study, we extended the original sample to include 85 family trios [66 AN restricting (AN-R) and 19 bingeing/purging (AN-BP) subtype] and performed a family-based transmission disequilibrium test (TDT) analysis for five SNPs in the COMT and two in the adjacent ARVCF gene. | NA | {
"id": 1791,
"name": "DNTT",
"pos": [
211,
3
]
} | {
"id": "C0596170",
"name": "Binge eating disorder",
"pos": [
114,
8
]
} |
The common functional polymorphism rs2230199 (Arg80Gly) in the C3 gene, corresponding to the electrophoretic variants C3S (slow) and C3F (fast), was strongly associated with age-related macular degeneration in both the English group (603 cases and 350 controls, P=5.9x10(-5)) and the Scottish group (244 cases and 351 controls, P=5.0x10(-5)). | NA | {
"id": 10162,
"name": "LPCAT3",
"pos": [
133,
3
]
} | {
"id": "C0242383",
"name": "Age related macular degeneration",
"pos": [
174,
32
]
} |
Thus, CCR1 may be a novel therapeutic target in ovarian cancer. | biomarker | {
"id": 1230,
"name": "CCR1",
"pos": [
6,
4
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
48,
14
]
} |
VEGF-A appears to be a novel mediator of IBD by promoting intestinal angiogenesis and inflammation. | biomarker | {
"id": 7422,
"name": "VEGFA",
"pos": [
0,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
86,
12
]
} |
IL-1β plays multiple direct, local roles in the formation and stability of the atheroma by eliciting the production of additional cytokines and proteolytic enzymes from macrophages, endothelial cells (EC) and smooth muscle cells (SMC). | NA | {
"id": 54808,
"name": "DYM",
"pos": [
230,
3
]
} | {
"id": "C0264956",
"name": "Atheroma",
"pos": [
79,
8
]
} |
The results demonstrate significantly elevated AURKA expression at the mRNA and protein level in ovarian carcinomas as compared to non-neoplastic ovaries (p < 0.0001). | NA | {
"id": 6790,
"name": "AURKA",
"pos": [
47,
5
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
131,
14
]
} |
A colon cancer-derived mutant of Krüppel-like factor 5 (KLF5) is resistant to degradation by glycogen synthase kinase 3β (GSK3β) and the E3 ubiquitin ligase F-box and WD repeat domain-containing 7α (FBW7α). | genomic_alterations | {
"id": 158506,
"name": "CBLL2",
"pos": [
137,
19
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
2,
12
]
} |
Besides Na(+)-leak mutations, novel KCNJ5 mutations causing a reduction of surface and total abundance of Kir3.4 are also associated with sporadic APA. | NA | {
"id": 2028,
"name": "ENPEP",
"pos": [
147,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
138,
8
]
} |
The secreted Nodal further activated Samd2/3/Akt signals to trigger the GC progression. | biomarker | {
"id": 23098,
"name": "SARM1",
"pos": [
37,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
72,
2
]
} |
The finding that mutations in PAX6 underlie ADK, along with a recent report that mutations in PAX6 also underlie Peters anomaly, implicates PAX6 broadly in human anterior segment malformations. | NA | {
"id": 132,
"name": "ADK",
"pos": [
44,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
179,
13
]
} |
Reducing Sin3A strongly increased the invasive behavior of A549 human lung adenocarcinoma cells. | NA | {
"id": 25942,
"name": "SIN3A",
"pos": [
9,
5
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
70,
19
]
} |
The TLR2-R753Q, TLR4-D299G, and TLR4-T399I polymorphisms were determined in a cohort of 327 patients subjected to tonsillectomy due to recurrent tonsillitis (n = 245) and tonsillar hypertrophy (n = 82) and 245 healthy bone marrow donors. | NA | {
"id": 7097,
"name": "TLR2",
"pos": [
4,
4
]
} | {
"id": "C0272386",
"name": "Hypertrophy of tonsils",
"pos": [
171,
21
]
} |
C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation. | genomic_alterations | {
"id": 7305,
"name": "TYROBP",
"pos": [
80,
5
]
} | {
"id": "C1857316",
"name": "POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY",
"pos": [
51,
19
]
} |
The present study was undertaken to identify enzymes and reactions responsible for the formation of these bile alcohols and to explain why Cyp27(-/-) mice do not show CTX-related abnormalities. | NA | {
"id": 1593,
"name": "CYP27A1",
"pos": [
139,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
179,
13
]
} |
Patient 3 had a 7q36 deletion found by subtelomere FISH testing that was the unbalanced product of a subtle maternal 7q;10q translocation. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
51,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
124,
13
]
} |
We now report that the chromatin-targeting E3 ubiquitin ligase RNF20/RNF40, driving histone H2B monoubiquitylation (H2Bub1), modulates inflammation and inflammation-associated cancer in mice and humans. | NA | {
"id": 9810,
"name": "RNF40",
"pos": [
69,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
152,
12
]
} |
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. | genomic_alterations | {
"id": 7466,
"name": "WFS1",
"pos": [
32,
4
]
} | {
"id": "C4518338",
"name": "Wolfram-like syndrome",
"pos": [
58,
21
]
} |
SMYD3 performed an important function in the aggressiveness of gastric carcinoma and may act as a promising target for prognostic prediction. | NA | {
"id": 64754,
"name": "SMYD3",
"pos": [
0,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
45,
14
]
} |
MICA short tandem repeat analysis indicated a significant decrease in the frequency for the MICA-A9 repeat in patients diagnosed with oral cavity squamous cell carcinoma (SCC) but not in patients with SCC in the hypoharynx, larynx, or oropharynx. | NA | {
"id": 100507436,
"name": "MICA",
"pos": [
92,
4
]
} | {
"id": "C0023051",
"name": "Laryngeal Diseases",
"pos": [
224,
6
]
} |
Our results point to a novel Plk2-TSC1 interaction with effects on mTOR signaling during hypoxia, and tumor growth that may enable targeting Plk2 signaling in cancer therapy. | NA | {
"id": 10769,
"name": "PLK2",
"pos": [
141,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
89,
7
]
} |
We demonstrate that muscle-infiltrating T cells are predominantly CD4+CD28(null) and CD8+CD28(null) T cells in patients with dermatomyositis and polymyositis. | NA | {
"id": 920,
"name": "CD4",
"pos": [
66,
3
]
} | {
"id": "C0011633",
"name": "Dermatomyositis",
"pos": [
125,
15
]
} |
We conclude that acute PCP induces SCZ-like symptom classes in a dose-dependent manner; PCP doses of 1.0-2.0 mg/kg are more suitable for modeling SCZ-like negative symptoms and cognitive deficits, while SCZ-like positive symptoms dominate at doses of 3.0-5.0 mg/kg. | biomarker | {
"id": 649,
"name": "BMP1",
"pos": [
88,
3
]
} | {
"id": "C0009241",
"name": "Cognition Disorders",
"pos": [
177,
18
]
} |
We found significantly increased risk of HCC attributable to presence of ADPN I148M polymorphism, with the highest risk associated with the M/M genotype under the recessive model of inheritance (OR = 2.23, 95% CI = 1.87-2.67, between-study heterogeneity: P = 0.468). | genomic_alterations | {
"id": 80339,
"name": "PNPLA3",
"pos": [
73,
4
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
41,
3
]
} |
Increased risk of vincristine neurotoxicity associated with low CYP3A5 expression genotype in children with acute lymphoblastic leukemia. | therapeutic | {
"id": 1577,
"name": "CYP3A5",
"pos": [
64,
6
]
} | {
"id": "C0154659",
"name": "Toxic Encephalitis",
"pos": [
30,
13
]
} |
Genetic variation in ALCAM and other chromosomal instability genes in breast cancer survival. | NA | {
"id": 214,
"name": "ALCAM",
"pos": [
21,
5
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
37,
23
]
} |
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. | NA | {
"id": 405753,
"name": "DUOXA2",
"pos": [
167,
6
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
101,
4
]
} |
Many studies have investigated the effects of glutathione S-transferase (GST) polymorphisms on cancer incidence in people exposed to carcinogenic polycyclic aromatic hydrocarbons (PAHs). | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
73,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
95,
6
]
} |
Systemic sclerosis (SSc) is a multisystem autoimmune disease: characterised from the clinical side by progressive vasculopathy and fibrosis of the skin and different organs and from the biochemical side by fibroblast deregulation with excessive production of collagen and increased expression of nicotinamide adenine dinucleotide phosphate oxidase 4 (NOX4). | biomarker | {
"id": 50507,
"name": "NOX4",
"pos": [
351,
4
]
} | {
"id": "C0042373",
"name": "Vascular Diseases",
"pos": [
114,
12
]
} |
Here, we show that deletion of Smad1, a conserved transcription factor that mediates canonical bone morphogenetic protein (BMP) signaling, results in neuroprotection in an ischemia-reperfusion (I/R) stroke model. | NA | {
"id": 2617,
"name": "GARS1",
"pos": [
31,
5
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
172,
8
]
} |
Ectopically expressed FANCC point mutants were capable of fully complementing the mitomycin-C hypersensitivity phenotype of FA-C cells but did not suppress TNF-alpha overproduction. | NA | {
"id": 2176,
"name": "FANCC",
"pos": [
22,
5
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
94,
16
]
} |
Altogether, our studies identified a novel regulator, miR-143-5p, implicated in GBC prognosis through targeting HIF-1α/EMT related signaling pathway, which could serve as a biomarker and therapeutic target for GBC. | biomarker | {
"id": 3091,
"name": "HIF1A",
"pos": [
112,
6
]
} | {
"id": "C0153452",
"name": "Malignant neoplasm of gallbladder",
"pos": [
210,
3
]
} |
In addition, we found that hypoxia induced hypoxia-inducible factor-1 alpha (HIF-1α) and phosphorylation of Akt, resulting in upregulation of RANK and RANKL expression; HIF-1α-targeted siRNA and PI3K-Akt inhibitor abrogated this upregulation in MDA-MB-231 cells. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
169,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
27,
7
]
} |
CKB is released into the extracellular space by metastatic cells encountering hepatic hypoxia and catalyzes production of phosphocreatine, which is imported through the SLC6A8 transporter and used to generate ATP—fueling metastatic survival. | NA | {
"id": 1120,
"name": "CHKB",
"pos": [
0,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
86,
7
]
} |
Since the BRCA1 gene lies at 17q21.1 and the TOC locus, associated with esophageal cancer, lies at 17q25.1, either gene could be the target of those losses. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
10,
5
]
} | {
"id": "C0546837",
"name": "Malignant neoplasm of esophagus",
"pos": [
72,
17
]
} |
The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. | NA | {
"id": 10585,
"name": "POMT1",
"pos": [
24,
5
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
102,
11
]
} |
We therefore screened patients with hereditary PHPV, as well as bilateral optic nerve aplasia (ONA) or hypoplasia (ONH), for mutations in ATOH7. | NA | {
"id": 220202,
"name": "ATOH7",
"pos": [
138,
5
]
} | {
"id": "C4021084",
"name": "Aplasia of optic nerve",
"pos": [
74,
19
]
} |
A recurring translocation t(9;14)(p13;q32) in non-Hodgkin's lymphoma moves the PAX5 on 9p13 within close proximity of the immunoglobulin heavy chain gene (IGH). | NA | {
"id": 5079,
"name": "PAX5",
"pos": [
79,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
12,
13
]
} |
Meanwhile, Omi/HtrA2 protein expression increased with HIF-1alpha expression decrease in HepG2 cells under hypoxia culture. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
55,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
107,
7
]
} |
The purpose of the present work is to investigate the reversal effects on ADM resistance by hyperthermia (42.5 degrees C) combined with two reversal agents (Interferon alpha and Verapamil) in MCF-7/ADR (ADM-resistant MCF-7 breast cancer cell line), and its relevant molecular mechanism of action. | biomarker | {
"id": 2232,
"name": "FDXR",
"pos": [
198,
3
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
92,
12
]
} |
We report that aged (>6 months) transgenic (tg) mice expressing CCL2 under the control of the human glial fibrillary acidic protein promoter (huGFAP-CCL2hi tg+ mice) manifested encephalopathy with mild perivascular leukocyte infiltration, impaired blood brain barrier function, and increased CD45-immunoreactive microglia, which had morphologic features of activation. | NA | {
"id": 6347,
"name": "CCL2",
"pos": [
64,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
197,
4
]
} |
InsP3R2-mediated Ca(2+) release regulates hypertrophy specific gene expression by modulating CaMKIIδ, histone deacetylase, and calcineurin-NFATc signaling pathways. | NA | {
"id": 4772,
"name": "NFATC1",
"pos": [
139,
5
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
42,
11
]
} |
Gene aberrations include translocation t(15, 19) (q13, p13.1) fusion oncogene BRD4-NUT, DNA repair genes (ERCC1, ERCC2, XRCC1), TGFβ1 pathway activation genes (TGFB1, LTBP4), Dyrk1B, and potential oncogenesis protector genes such as NFkB pathway inhibition genes (NFKBIB, PPP1R13L) and EGLN2. | NA | {
"id": 2067,
"name": "ERCC1",
"pos": [
106,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
25,
13
]
} |
The EGF receptor (EGFR) family of tyrosine kinases and the beta1-integrin adhesion receptors are of particular interest, given the implication for their involvement in the initiation and progression of tumorigenesis. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
18,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
202,
13
]
} |
Small interfering RNA-mediated knockdown of Rictor inhibited EGF-induced PKCζ phosphorylation and translocation along with phosphorylation of the key F-actin binding protein cofilin. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
61,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
98,
13
]
} |
In this study TOP2A, HER-2 and chromosome 17 aneusomy were investigated by fluorescent in situ hybridization (FISH) in 50 consecutive breast cancer patients. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
110,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
134,
13
]
} |
Erratum: Akt/mTOR-Mediated Autophagy Confers Resistance To BET Inhibitor JQ1 In Ovarian Cancer [Corrigendum]. | biomarker | {
"id": 92737,
"name": "DNER",
"pos": [
59,
3
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
80,
14
]
} |
In order to precisely localize the susceptible locus for cardiac sarcoidosis within the HLA region, genetic polymorphisms of classical HLA genes, non-classical HLA class II genes such as HLA-DMA and -DMB genes and several genes involved in the class I-mediated antigen presentation pathway (TAP1, TAP2, LMP2 and LMP7) were investigated. | NA | {
"id": 266629,
"name": "SEC14L3",
"pos": [
297,
4
]
} | {
"id": "C0392077",
"name": "Cardiac sarcoidosis",
"pos": [
57,
19
]
} |
Notably, AAV-BDNF-treated rats also developed hindlimb spasticity, detracting from its potential clinical applicability via the current viral delivery method. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
9,
3
]
} | {
"id": "C0026838",
"name": "Muscle Spasticity",
"pos": [
55,
10
]
} |
To gain insight into the molecular mechanisms underpinning CRC in Saudi Arabian patients, we profiled the DNA methylation frequency of key genes (MLH1, MSH2, RASSF1A, SLIT2, HIC1, MGMT, SFRP1, MYOD1, APC, CDKN2A, as well as five CIMP markers) in 120 sporadic CRC cases. | NA | {
"id": 4654,
"name": "MYOD1",
"pos": [
193,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
250,
8
]
} |
concentration, polymorphisms of genes encoding for the vitamin D receptor (VDR) and vitamin D-binding protein (also known as gc-globulin or group-specific component, GC), and breast cancer risk, along with 2 potential modifiers: body mass index (BMI; in kg/m(2)) and alcohol intake. | NA | {
"id": 7421,
"name": "VDR",
"pos": [
75,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
229,
15
]
} |
In addition, MET is a directly targeted gene of miR-182 in breast cancer cells. | biomarker | {
"id": 406958,
"name": "MIR182",
"pos": [
48,
7
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
59,
13
]
} |
The objective of this study was to investigate the effects of prostaglandin E(2) (PGE(2)) on the expression of vascular endothelial growth factor (VEGF) and hypoxia-inducible transcription factor-1 alpha (HIF-1alpha) genes in epithelial ovarian cancer (EOC) cells. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
205,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
157,
7
]
} |
A possible connection between glutamate decarboxylase (GAD) autoimmunity and enterovirus infections in IDDM has been suggested to be based on a homology region between GAD and the non-structural protein 2C of coxsackievirus B4 (CVB4). | biomarker | {
"id": 2752,
"name": "GLUL",
"pos": [
30,
23
]
} | {
"id": "C0014378",
"name": "Enterovirus Infections",
"pos": [
77,
22
]
} |
Understanding the role and specific mechanisms of androgen action via the AR in the ovary has been limited by confusion on how to interpret results from pharmacological studies, because many androgens can be metabolized in vivo and in vitro to steroids that can also exert actions via the estrogen receptor (ESR). | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
308,
3
]
} | {
"id": "C0009676",
"name": "Confusion",
"pos": [
110,
9
]
} |
We investigated the association between the 9-repeat allele of the dopamine transporter and angry-impulsive personality traits in a family study with 512 subjects on the molecular genetics of depression and personality. | NA | {
"id": 6531,
"name": "SLC6A3",
"pos": [
67,
20
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
108,
18
]
} |
Cytokines (interleukin IL-1a, IL-1b, IL-2, IL-4, IL-6, IL-10, TNFa, GM-CSF, IFN-g), chemokines (MIP-1a, MIP-2, MIP-3a, MCP-1, GRO/KC, RANTES, Fractalkine), and tyrosine nitration were measured in retinal homogenate obtained from Long-Evans rats after 5 months of experimental diabetes. | NA | {
"id": 6376,
"name": "CX3CL1",
"pos": [
142,
11
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
276,
8
]
} |
Our data suggest that RANTES deposition and subsequent monocyte arrest are promoted by platelet P-selectin and involved in wire-induced intimal hyperplasia, and that blocking RANTES receptors attenuates neointima formation and macrophage infiltration. | NA | {
"id": 6403,
"name": "SELP",
"pos": [
96,
10
]
} | {
"id": "C0334096",
"name": "Intimal proliferation",
"pos": [
136,
19
]
} |
Cells were placed into an anaerobic chamber and effects of NHE1 expression after hypoxia/reoxygenation were examined. | NA | {
"id": 6548,
"name": "SLC9A1",
"pos": [
59,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
81,
7
]
} |
For two of the five cases, a t(6;11)(p21;q13) translocation was revealed; the others had t(1;11)(p13;q13), t(7;11)(q11.2;q13), and t(5;11)(q35; q13). | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
97,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
46,
13
]
} |
Mechanistic insights of epithelial protein lost in neoplasm in prostate cancer metastasis. | biomarker | {
"id": 51474,
"name": "LIMA1",
"pos": [
24,
35
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
63,
15
]
} |
In 2005, we reported the first mutations in the SBP2 gene in two families in which the probands presented with transient growth retardation associated with abnormal thyroid function tests. | genomic_alterations | {
"id": 79048,
"name": "SECISBP2",
"pos": [
48,
4
]
} | {
"id": "C0040128",
"name": "Thyroid Diseases",
"pos": [
156,
16
]
} |
These results suggest that stimulation of ETA and 5-HT1B/1D receptors by endogenous ET-1 and 5-HT, respectively, is involved in RhoA/Rho kinase-mediated increased Ca sensitization in the chronically hypoxic hypertensive rat pulmonary circulation. | NA | {
"id": 1909,
"name": "EDNRA",
"pos": [
42,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
199,
7
]
} |
Transforming growth factor-beta (TGF-beta) is produced by a number of tumor cell types including human malignant mesothelioma (MM), but its role as a direct or indirect factor in tumorigenesis is incompletely understood. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
33,
8
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
113,
12
]
} |
Using a logistic model, FII G20210A mutation (odds ratio [OR] 19.8, confidence interval [CI] 4.5-87.1, p=0.001), LAC (OR 2.7, CI1.1-6.5, p=0.032), and fibrinogen (OR 1.01, CI 1.00-1.01, p=0.001) were associated with CLI, whereas homocysteine, FVIII, and FV R506Q mutation were not. | NA | {
"id": 3938,
"name": "LCT",
"pos": [
113,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
151,
10
]
} |
Seventeen patients in Group A and 30 patients in Group B were evaluated before starting thrombolytic treatment and 2, 6 and 24 h after its end for the following parameters: aPTT, TcT, fibrinogen, fibrinogen degradation products (FDP), plasmin-alpha 2 antiplasmin (PAP) and thrombin-antithrombin III (TAT) complexes. | NA | {
"id": 6898,
"name": "TAT",
"pos": [
300,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
196,
10
]
} |
RUNX3 is a major growth regulator of gastric epithelial cells that is involved in gastric tumorigenesis in both humans and mice. | NA | {
"id": 864,
"name": "RUNX3",
"pos": [
0,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
90,
13
]
} |
SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population. | NA | {
"id": 3767,
"name": "KCNJ11",
"pos": [
12,
6
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
76,
14
]
} |
In a separate group of six mild atopic asthmatics, there was an increased proportion of BAL cells positive for IL-10 mRNA 24 h after allergen inhalation challenge compared with diluent challenge BAL from the same subjects (24% versus 10%; P < 0.005). | NA | {
"id": 3586,
"name": "IL10",
"pos": [
111,
5
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
142,
10
]
} |
In vivo selection of highly metastatic pancreatic cancer cells induced epithelial-mesenchymal transition (EMT), loss of E-cadherin expression, and up-regulation of mesenchymal genes such as Snail. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
106,
3
]
} | {
"id": "C0346976",
"name": "Secondary malignant neoplasm of pancreas",
"pos": [
28,
28
]
} |
Of all the epithelial ovarian malignant tumors, the AQP5 expression in cases with ascites volume more than 1000 ml was higher than that of ascites volume less than 500 ml (P < 0.05). | NA | {
"id": 362,
"name": "AQP5",
"pos": [
52,
4
]
} | {
"id": "C0003962",
"name": "Ascites",
"pos": [
139,
7
]
} |
In the present study, we investigated whether PR activation by PKC induces the migration and invasion of glioblastoma derived cell lines and if PKCα and δ isoforms are involved in PR activation. | biomarker | {
"id": 5578,
"name": "PRKCA",
"pos": [
144,
4
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
93,
8
]
} |
These initial results warrant further investigation of HOTAIR and other lincRNA genes in lung tumorigenesis. | NA | {
"id": 100124700,
"name": "HOTAIR",
"pos": [
55,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
94,
13
]
} |
The mean age of onset was 31 +/- 6 and the clinical presentation included stroke in 68%, subcortical dementia in 17% and asymptomatic leukoariosis detected by MRI in 15%. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
159,
3
]
} | {
"id": "C4024935",
"name": "Subcortical dementia",
"pos": [
89,
20
]
} |
Here, we found that 24 h of hypoxia and 1 h of reoxygenation induced the expression of the chaperone ORP150 in cultured rat cardiomyocytes. | NA | {
"id": 10525,
"name": "HYOU1",
"pos": [
101,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
28,
7
]
} |
3p21 is an important locus harbouring critical tumour suppressor genes (TSG), which are implicated in the pathogenesis of multiple tumours, including oesophageal carcinoma. | NA | {
"id": 57045,
"name": "TWSG1",
"pos": [
72,
3
]
} | {
"id": "C0152018",
"name": "Esophageal carcinoma",
"pos": [
150,
21
]
} |
These findings indicate the role of miR-34a in tumor progression may be closely associated with p53 mutation and inversely correlated to Bcl-2 expression. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
96,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
47,
17
]
} |
The Wisteria floribunda agglutinin-positive human Mac-2-binding protein (WFA(+) -M2BP) is a new liver fibrosis glycobiomarker with unique fibrosis-related glyco-alteration. | NA | {
"id": 3959,
"name": "LGALS3BP",
"pos": [
81,
4
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
138,
8
]
} |
The screening of 57 cases of different neoplastic diseases and of 57 controls, healthy subjects or patients affected with other non-neoplastic diseases indicates that TEF activity is generally related to the presence of neoplasia. | NA | {
"id": 7008,
"name": "TEF",
"pos": [
167,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
220,
9
]
} |
A newly established retinoblastoma cell line, NCC-RbC-51 (R51), showed an isoenzyme pattern with only two bands, LD1 and LD2ex. | NA | {
"id": 6559,
"name": "SLC12A3",
"pos": [
46,
3
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
20,
14
]
} |
We aimed to analyze the retinol binding protein-4 (RBP4) messenger RNA (mRNA) expression profiles in adipose tissues and liver of morbidly obese (MO) women with or without nonalcoholic fatty liver disease (NAFLD), and to study the relationships with other pro- and anti-inflammatory adipokines in vivo and in vitro. | NA | {
"id": 5433,
"name": "POLR2D",
"pos": [
51,
4
]
} | {
"id": "C0400966",
"name": "Non-alcoholic Fatty Liver Disease",
"pos": [
172,
32
]
} |
NQO1 gene expression was high in normal esophageal tissues. | NA | {
"id": 1728,
"name": "NQO1",
"pos": [
0,
9
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
40,
10
]
} |
The aim of this study was to further characterize the expression of ROR1 and the other member of the ROR family, ROR2, in other lymphoid and myeloid malignancies. | biomarker | {
"id": 4920,
"name": "ROR2",
"pos": [
113,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
149,
12
]
} |
We report findings from the first family-based association study examining associations between female breast cancer risk and polymorphisms in two key estrogen-biosynthesis genes CYP17 (T-->C promoter polymorphism) and CYP19 (TTTA repeat polymorphism). | genomic_alterations | {
"id": 1586,
"name": "CYP17A1",
"pos": [
179,
5
]
} | {
"id": "C0235653",
"name": "Malignant neoplasm of female breast",
"pos": [
96,
20
]
} |
The aim of this study was to examine the predictive value of GLUT1, GLUT3, and HIF-1α messenger RNA (mRNA)/protein expression as markers of tumor aggressiveness and prognosis in laryngeal cancer. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
79,
6
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
146,
14
]
} |
The expression of SF2/ASF mRNA in pituitary tumors was increased when compared with non-neoplastic control samples. | NA | {
"id": 6426,
"name": "SRSF1",
"pos": [
18,
3
]
} | {
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
34,
16
]
} |
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