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|---|---|---|---|
Yes-associated protein 1 (YAP1) is an oncogene that plays multiple roles in the tumorigenesis and progression of many malignances. | NA | {
"id": 10413,
"name": "YAP1",
"pos": [
26,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
80,
13
]
} |
We assessed mutations of the NF2, LATS1, and LATS2 genes, promoter methylation of LATS1 and LATS2, and expression of YAP and phosphorylated YAP in 82 cases of sporadic schwannomas. | NA | {
"id": 9113,
"name": "LATS1",
"pos": [
82,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
159,
8
]
} |
One hundred children with chronic gastritis, 32 children with duodenal ulcer and 102 healthy children were enrolled.The promoter of MMP-9-1562C/T gene polymorphisms were genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and sequencing. | NA | {
"id": 6862,
"name": "TBXT",
"pos": [
144,
6
]
} | {
"id": "C0085695",
"name": "Chronic gastritis",
"pos": [
26,
17
]
} |
In this study, normal fetal lung fibroblasts (MRC-5) and human lung adenocarcinoma cells (H1299, p53-null) were treated with BaP at concentrations of 8, 16, 32, 64, and 128 μM for 4 and 12 h. The oxidative stress status, extent of DNA damage, expression of p53, p73, mdm2, bcl-2, and bax at the mRNA and protein levels, and the percentages of apoptosis and/or necrosis were assessed. | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
267,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
360,
8
]
} |
However, analyses according to histological subtypes revealed a statistically significant increased risk of oligodendroglioma in association with SMARCA2 rs2296212 (OR = 4.05, 95% CI = 1.11-14.80, P = 0.030, q = 0.08) and rs4741651 (OR = 4.68, 95% CI = 1.43-15.30, P = 0.011, q = 0.08) and SMARCA4 rs11672232 (OR = 1.90, 95% CI = 1.01-3.58, P = 0.048, q = 0.08) and rs12232780 (OR = 2.14, 95% CI = 1.06-4.33, P = 0.035, q = 0.08). | genomic_alterations | {
"id": 6595,
"name": "SMARCA2",
"pos": [
146,
7
]
} | {
"id": "C0279070",
"name": "Adult Oligodendroglioma",
"pos": [
108,
17
]
} |
To the best of our knowledge this is the first study analysing IL6/IL6R polymorphisms in mastocytosis. | genomic_alterations | {
"id": 3570,
"name": "IL6R",
"pos": [
67,
4
]
} | {
"id": "C0024899",
"name": "Mastocytosis",
"pos": [
89,
12
]
} |
Family-based tests of association were performed to evaluate the evidence of association between the 18 SNPs distributed throughout COMT, including the functional Val158Met polymorphism, and the phenotypes of alcohol dependence, early onset alcohol dependence, habitual smoking, and comorbid alcohol dependence and habitual smoking. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
132,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
324,
7
]
} |
Rab27A and Rab27B are the major components of vesicle fusion and trafficking in exosome secretion and play important roles in tumor progression and metastasis. | biomarker | {
"id": 5873,
"name": "RAB27A",
"pos": [
0,
6
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
126,
17
]
} |
Primary HLH includes PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, SH2D1A and XIAP gene mutations; and secondary HLH is associated with infections, malignancies and autoimmune diseases. | NA | {
"id": 201294,
"name": "UNC13D",
"pos": [
27,
6
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
133,
10
]
} |
We show that mild (4-6 h) sleep deprivation (SD) selectively augmented the number of NR2A subunits of NMDA receptors on postsynaptic densities of adult mouse CA1 synapses. | NA | {
"id": 759,
"name": "CA1",
"pos": [
158,
3
]
} | {
"id": "C0037316",
"name": "Sleep Deprivation",
"pos": [
26,
17
]
} |
The specific inhibitor PF-8380, dosed orally at 30 mg/kg, provided >95% reduction in both plasma and air pouch LPA within 3 h, indicating autotaxin is a major source of LPA during inflammation. | NA | {
"id": 4018,
"name": "LPA",
"pos": [
169,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
180,
12
]
} |
In the in vivo study, there was a 43% reduction in weight of tumors derived from CypA-silenced CCA cell lines compared with control vector CCA tumors in mice; these tumors with stable CypA silencing showed a reduced cell proliferation. | NA | {
"id": 5478,
"name": "PPIA",
"pos": [
184,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
51,
6
]
} |
The innate immunity gene, toll-like receptor 4 (TLR4), protects against chronic pulmonary inflammation and tumorigenesis in mice, but the mechanism is unclear. | NA | {
"id": 7099,
"name": "TLR4",
"pos": [
48,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
107,
13
]
} |
Immunophenotypic analyses revealed that blasts were positive for CD19, CD79a, and cytCD22, as well as MPO, CD13, and CD33, fulfilling the diagnostic criteria of mixed phenotype acute leukemia, B/myeloid. | NA | {
"id": 4353,
"name": "MPO",
"pos": [
102,
3
]
} | {
"id": "C2826025",
"name": "Mixed phenotype acute leukemia",
"pos": [
161,
30
]
} |
In esophageal and gastric cancers, the formation of metastases is not dependent on the reduction of KAI1 in the cancer cells. | NA | {
"id": 3732,
"name": "CD82",
"pos": [
100,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
3,
10
]
} |
AM/-actin and AM/GAPDH mRNA ratios were significantly lower in placental villi in preeclampsia than in controls (P<0.05) as were CGRP/-actin and CGRP/GAPDH mRNA ratios in chorionic plates (P<0.05). | NA | {
"id": 2597,
"name": "GAPDH",
"pos": [
150,
5
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
82,
12
]
} |
Consequently, somatic TERT promoter mutation is a new biomarker predictive of transformation of premalignant lesions into HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
122,
3
]
} | {
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
96,
12
]
} |
Associations between HLA-ABDRB1 polymorphisms and risks of vulvar lichen sclerosus or squamous cell hyperplasia of the vulva. | genomic_alterations | {
"id": 129831,
"name": "RBM45",
"pos": [
27,
4
]
} | {
"id": "C0022783",
"name": "Vulvar Lichen Sclerosus",
"pos": [
59,
23
]
} |
In multivariable models, IL-6 and TNF-alpha fully explained observed associations of C-reactive protein and fibrinogen with risk of ischemic stroke, but TNF-alpha retained borderline significance after full adjustment. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
25,
4
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
108,
10
]
} |
The functional roles of miR-29c in breast cancer cells such as proliferation, migration, invasion, colony formation, and 3D growth were evaluated using MTT, transwell chambers, soft agar, and 3D Matrigel culture, respectively. | biomarker | {
"id": 407026,
"name": "MIR29C",
"pos": [
24,
7
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
35,
13
]
} |
In this paper, we therefore explored whether anti-CD147 HAb18IgG sensitized pancreatic cancer cells to chemoradiotherapy <i>via</i> the targeting of CSCs. | biomarker | {
"id": 682,
"name": "BSG",
"pos": [
50,
5
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
76,
17
]
} |
NOX1 was determined to be crucial for enhanced ROS production in intermittent hypoxia that in turn mediated induction of Nrf2 and Trx1. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
121,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
78,
7
]
} |
Kv1.3 and Kv1.5 were found to be remodeled differentially; whereas Kv1.3 expression did not correlate with the state of dedifferentiation or the nature of lymphomatous cells, Kv1.5 abundance correlated inversely with clinical aggressiveness. | NA | {
"id": 3741,
"name": "KCNA5",
"pos": [
175,
5
]
} | {
"id": "C0002793",
"name": "Anaplasia",
"pos": [
120,
17
]
} |
We conducted a Medline and Pubmed search for reports between 1990 and 2008 using the search terms: BRCA1 and hereditary ovarian cancer, BRCA1 and sporadic ovarian cancer, ovarian cancer and chemotherapy, ovarian cancer and taxanes, ovarian cancer and platinums, ovarian cancer and clinical response, BRCA1 and DNA damage, BRCA1 and DNA repair, BRCA1 and mitotic checkpoint. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
344,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
146,
8
]
} |
This study aimed to investigate whether three serotonergic polymorphisms (HTR2A A-1438G (rs6311), and SCL6A4 5-HTTLPR and STin2 VNTR) were associated with alcohol dependence, and, whether the serotonergic polymorphisms played a similar role in conferring vulnerability in alcohol and heroin dependence. | genomic_alterations | {
"id": 3356,
"name": "HTR2A",
"pos": [
74,
5
]
} | {
"id": "C0019337",
"name": "Heroin Dependence",
"pos": [
284,
17
]
} |
TERT promoter mutations are the most common recurrent somatic point mutation in medulloblastoma, and are very highly enriched in adult SHH and WNT tumors. | genomic_alterations | {
"id": 110806263,
"name": "LOC110806263",
"pos": [
0,
13
]
} | {
"id": "C0278510",
"name": "Childhood Medulloblastoma",
"pos": [
80,
15
]
} |
We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, D15S10, and GABRB3. | genomic_alterations | {
"id": 2562,
"name": "GABRB3",
"pos": [
245,
6
]
} | {
"id": "C0162635",
"name": "Angelman Syndrome",
"pos": [
173,
17
]
} |
Furthermore, activation of Akt1 was involved in Brca1-deficiency-mediated tumorigenesis in mice. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
27,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
74,
13
]
} |
Moreover, METTL13-dependent inhibition of bladder cancer cell migration and invasion is mediated by downregulation of FAK (Focal adhesion kinase) phosphorylation, AKT (v-akt murine thymoma viral oncogene) phosphorylation, β-catenin expression and MMP-9 expression. | NA | {
"id": 5747,
"name": "PTK2",
"pos": [
123,
21
]
} | {
"id": "C0040100",
"name": "Thymoma",
"pos": [
181,
7
]
} |
Surgical specimens from estrogen receptor-positive breast cancer and adjacent normal breast tissue from 64 patients treated 4 weeks preoperatively with 20, 5, or 1 mg/d tamoxifen and 28 nontreated breast cancer controls were analyzed for coactivator and HER-2/neu mRNA expression using real-time reverse transcription-PCR. | therapeutic | {
"id": 2064,
"name": "ERBB2",
"pos": [
254,
9
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
197,
13
]
} |
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. | genomic_alterations | {
"id": 5781,
"name": "PTPN11",
"pos": [
223,
6
]
} | {
"id": "C0027831",
"name": "Neurofibromatosis 1",
"pos": [
169,
17
]
} |
Serum starvation regulates E-cadherin upregulation via activation of c-Src in non-small-cell lung cancer A549 cells. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
27,
10
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
6,
10
]
} |
OVA-challenged STAT4-/- mice exhibited elevated AHR and pulmonary eosinophilia. | NA | {
"id": 196,
"name": "AHR",
"pos": [
48,
3
]
} | {
"id": "C0034068",
"name": "Pulmonary Eosinophilia",
"pos": [
56,
22
]
} |
Preoperatively the median DCI (299 ES vs. 1523.5 MSA vs. 1132 NF, p = 0.001), HH size (0.5 cm ES vs. 1 cm MSA vs. 2 cm NF, p = 0.001) and presence of GERD-related symptoms differed significantly between the groups. | genomic_alterations | {
"id": 1632,
"name": "ECI1",
"pos": [
26,
3
]
} | {
"id": "C3489393",
"name": "Hiatal Hernia",
"pos": [
78,
2
]
} |
The human β-defensin 2 (hBD2)- encoded by DEFB4- is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. | NA | {
"id": 140596,
"name": "DEFB104A",
"pos": [
42,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
133,
12
]
} |
AFP remained the most useful test but the others such as A1AT, A1Gp, GGT and ICD recognised both malignant and asymptomatic nonmalignant diseases. | NA | {
"id": 5265,
"name": "SERPINA1",
"pos": [
57,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
111,
12
]
} |
CONCLUSION: p33(ING1b) and p47(ING1a) mRNA expressions are closely related with the carcinogenesis and progression of human sporadic colorectal cancer. | NA | {
"id": 3621,
"name": "ING1",
"pos": [
12,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
124,
8
]
} |
We studied five human pancreatic cancer cell lines, Capan-1, Capan-2, CAV, MIA PaCa-2, and Panc-1. | NA | {
"id": 763,
"name": "CA5A",
"pos": [
70,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
22,
17
]
} |
Anti-APRIL Ab treatment significantly decreased albuminuria and tissue damage combined with decreases in serum IgA levels and deposition of glomerular IgA. | NA | {
"id": 10541,
"name": "ANP32B",
"pos": [
5,
5
]
} | {
"id": "C0001925",
"name": "Albuminuria",
"pos": [
48,
11
]
} |
Using genetically modified transgenic or knockout mice and adenoviral targeting to manipulate expression or function in experimental models of heart failure, several investigators have demonstrated that the PI3K-Akt pathway regulates cardiomyocyte size, survival, angiogenesis, and inflammation in both physiological and pathological cardiac hypertrophy. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
207,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
282,
12
]
} |
Our study thus provides evidence for a pathogenic mechanism for DS in which increased expression of App, in the context of trisomy, causes abnormal transport of NGF and cholinergic neurodegeneration. | NA | {
"id": 4803,
"name": "NGF",
"pos": [
161,
3
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
123,
7
]
} |
Female mice in which one Fgf13 allele was deleted exhibited hyperthermia-induced seizures and epilepsy. | NA | {
"id": 2258,
"name": "FGF13",
"pos": [
25,
5
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
60,
12
]
} |
We searched for linkage disequilibrium (LD) in 137 triads with dyslexia, using markers that span the most-replicated dyslexia susceptibility region on 6p21-p22, and found association between the disease and markers within the VMP/DCDC2/KAAG1 locus. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
156,
3
]
} | {
"id": "C0476254",
"name": "Dyslexia",
"pos": [
117,
8
]
} |
Through public database searching, we found that PIK3CB, insulin receptor substrate 1/2 (IRS1), RPS6, EIF4B, RPS6KA5, and PRKAA2 that were known as mTOR-related genes possessed mononucleotide repeats in DNA coding sequences that could be mutated in cancers with microsatellite instability (MSI). | NA | {
"id": 6194,
"name": "RPS6",
"pos": [
96,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
262,
26
]
} |
The carriers of CETP deficiency had CETP and lipid abnormalities. | NA | {
"id": 1071,
"name": "CETP",
"pos": [
36,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
51,
13
]
} |
Some of these mutated genes (ADCY9, ADCY2, GNB5, K-ras, HDAC6 and ARHGEF17) also belong to the 'Phospholipase C Signaling' network, which suggests that this pathway and its mutated genes may contribute to a lung metastasis from colon cancer. | NA | {
"id": 115,
"name": "ADCY9",
"pos": [
29,
5
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
207,
15
]
} |
The majority of the abnormalities occurring in infants involve the MLL gene on chromosome band 11q23. | NA | {
"id": 4297,
"name": "KMT2A",
"pos": [
67,
8
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
20,
13
]
} |
Our results indicate that CEA may be an important target for immunotherapy in a large number of patients with breast and lung tumors. | biomarker | {
"id": 1048,
"name": "CEACAM5",
"pos": [
26,
3
]
} | {
"id": "C0024121",
"name": "Lung Neoplasms",
"pos": [
121,
11
]
} |
In contrast, familial hypercholesterolemic small VLDL2 (Sf 20-60) was enriched with cholesterol and depleted in triglyceride. | biomarker | {
"id": 56005,
"name": "MYDGF",
"pos": [
56,
5
]
} | {
"id": "C1611743",
"name": "Familial (FPAH)",
"pos": [
13,
8
]
} |
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. | genomic_alterations | {
"id": 2706,
"name": "GJB2",
"pos": [
0,
11
]
} | {
"id": "C0265336",
"name": "Senter syndrome",
"pos": [
55,
13
]
} |
Both in vitro and in vivo F1 treatment reduced CX3CR1-dependent inflammatory monocyte adhesion, potentially limiting their recruitment. | NA | {
"id": 1524,
"name": "CX3CR1",
"pos": [
47,
6
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
86,
8
]
} |
A reduction in SAT1 expression identified through multiple probesets was observed across 12 cortical regions in depressed individuals who have died by suicide compared with controls. | NA | {
"id": 6303,
"name": "SAT1",
"pos": [
15,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
151,
7
]
} |
Remarkably, untreated ADA-severe combined immunodeficiency patients showed a similar imbalance in RANKL/osteoprotegerin levels alongside severe growth retardation. | NA | {
"id": 4982,
"name": "TNFRSF11B",
"pos": [
104,
15
]
} | {
"id": "C0151686",
"name": "Growth retardation",
"pos": [
144,
18
]
} |
Rheumatoid arthritis is an inflammatory disease driven by TH1 CD4+ cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
62,
3
]
} | {
"id": "C1290884",
"name": "Inflammatory disorder",
"pos": [
27,
20
]
} |
The form with the most favorable prognosis expresses high levels of TrkA, a high-affinity receptor for nerve growth factor (NGF), whereas advanced NB and associated cell lines have abnormalities in the NGF/TrkA signaling pathway. | NA | {
"id": 4803,
"name": "NGF",
"pos": [
202,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
181,
13
]
} |
Stimulation of EphB4 and EfnB2 signalling using EfnB2-Fc and EphB4-Fc, respectively, enhanced hypoxia-induced angiogenesis. | NA | {
"id": 2050,
"name": "EPHB4",
"pos": [
61,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
94,
7
]
} |
Canine mammary tumor cells transfected with B7-1 or B7-2 stimulate proliferation of peripheral blood mononuclear cells. | NA | {
"id": 942,
"name": "CD86",
"pos": [
52,
4
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
7,
13
]
} |
Results showed hypoxia induced not only the increase of IGF-2 and VEGF expression but also the activation of their upstream regulatory genes, HIF-1alpha and Shh. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
142,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
15,
7
]
} |
Hepatic serum- and glucocorticoid-regulated protein kinase 1 (SGK1) regulates insulin sensitivity in mice via extracellular-signal-regulated kinase 1/2 (ERK1/2). | NA | {
"id": 6446,
"name": "SGK1",
"pos": [
62,
4
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
78,
19
]
} |
These data do not lend support to the hypothesis that chromosome 8p12-p22 harbours a familial breast cancer susceptibility gene. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
70,
3
]
} | {
"id": "C0346153",
"name": "Breast Cancer, Familial",
"pos": [
85,
22
]
} |
VILIP-1 influences cytosolic cyclic adenosine mono phosphate (cAMP) levels, cell migration, exocytotic processes and differentiation in the periphery. | NA | {
"id": 7447,
"name": "VSNL1",
"pos": [
0,
7
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
46,
4
]
} |
CXCR4/Let-7a Axis Regulates Metastasis and Chemoresistance of Pancreatic Cancer Cells Through Targeting HMGA2. | biomarker | {
"id": 8091,
"name": "HMGA2",
"pos": [
104,
5
]
} | {
"id": "C0346647",
"name": "Malignant neoplasm of pancreas",
"pos": [
62,
17
]
} |
The results of this study suggest that increased expression of miR-20a may play an important role in the pathogenesis of ovarian endometriosis by suppressing NTN4. | NA | {
"id": 8079,
"name": "MLF2",
"pos": [
158,
4
]
} | {
"id": "C0156344",
"name": "Endometriosis of ovary",
"pos": [
121,
21
]
} |
In summary, we have identified STK17A as a novel direct target of p53 and a modulator of cisplatin toxicity and reactive oxygen species in testicular cancer cells. | NA | {
"id": 9263,
"name": "STK17A",
"pos": [
31,
6
]
} | {
"id": "C0855197",
"name": "Malignant Testicular Germ Cell Tumor",
"pos": [
139,
17
]
} |
Transcriptional control of PAX4-regulated miR-144/451 modulates metastasis by suppressing ADAMs expression. | NA | {
"id": 5078,
"name": "PAX4",
"pos": [
27,
4
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
64,
10
]
} |
These results may suggest that EPO ameliorated the progression of EAM by modulating myocardial inflammation and apoptosis. | biomarker | {
"id": 2056,
"name": "EPO",
"pos": [
31,
3
]
} | {
"id": "C0027059",
"name": "Myocarditis",
"pos": [
84,
23
]
} |
Our data failed to support previous associations of functional polymorphisms at the 3'-UTR of the CRTH2 gene implicated in asthma. | NA | {
"id": 8170,
"name": "SLC14A2",
"pos": [
87,
3
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
123,
6
]
} |
Our findings indicate significant association of pro-inflammatory (IL2, IFN-γ, TNF-α) and anti-inflammatory cytokine gene variants (IL4, IL10) with the risk to acquire the HIV infection and development of AIDS related illness in Indian population. | genomic_alterations | {
"id": 3458,
"name": "IFNG",
"pos": [
72,
5
]
} | {
"id": "C0019693",
"name": "HIV Infections",
"pos": [
172,
13
]
} |
Furthermore, deletion of IL-23 from immune cells attenuated liver fibrosis, whereas deletion of IL-22 exacerbated fibrosis. | NA | {
"id": 51561,
"name": "IL23A",
"pos": [
25,
5
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
114,
8
]
} |
Our data suggest that the TLR4-TRIF axis has an important role in stimulating protective innate immunity against H5N1 influenza A virus infection and that TLR3 signaling is involved in this pathway. | biomarker | {
"id": 7099,
"name": "TLR4",
"pos": [
26,
4
]
} | {
"id": "C0858004",
"name": "Influenza A virus infection",
"pos": [
113,
32
]
} |
The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0.05. | NA | {
"id": 2953,
"name": "GSTT2",
"pos": [
74,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
40,
7
]
} |
An early increase of plasma MIF associates with NF-kB translocation and respiratory burst in PMNs of severe trauma patients and correlates with higher morbidity. | NA | {
"id": 268,
"name": "AMH",
"pos": [
28,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
54,
13
]
} |
Moreover, significant multiplicative interactions were observed between smoking and these three polymorphisms of TERT-rs2853669, rs2736108, and CLPTM1L-rs31490, even after bonferroni correction for multiple comparisons (Pinteraction = 1.316 × 10(-9), 3.912 × 10(-4), and 2.483 × 10(-5), respectively). | NA | {
"id": 81037,
"name": "CLPTM1L",
"pos": [
144,
7
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
72,
7
]
} |
The authors studied whether sequence variations in ACVRL1 or ENG are associated with the development of clinically sporadic arteriovenous dysplasias and aneurysms of the CNS. | NA | {
"id": 2022,
"name": "ENG",
"pos": [
61,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
115,
8
]
} |
Tumor protein D52-like 2 (TPD52L2) has been commonly described as a protein involved in tumorigenesis, according to its name. | NA | {
"id": 7165,
"name": "TPD52L2",
"pos": [
26,
7
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
88,
13
]
} |
Pretreatment with topical pseudoceramide protected against UVB-induced upregulation of IL-1β, IL-6, and TNF-α transcription and reduced susceptibility to erythema following UVB. | genomic_alterations | {
"id": 3569,
"name": "IL6",
"pos": [
94,
4
]
} | {
"id": "C0041834",
"name": "Erythema",
"pos": [
154,
8
]
} |
Metastatic breast tumor Met-1 cells express CD44v(3,8-10), a major adhesion receptor that binds extracellular matrix components at its extracellular domain and interacts with the cytoskeletal protein, ankyrin, at its cytoplasmic domain. | NA | {
"id": 1785,
"name": "DNM2",
"pos": [
179,
20
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
11,
12
]
} |
A diagnosis of FA was confirmed by an increased number of chromosomal breaks and rearrangements in peripheral blood lymphocytes cultured with mitogen in the presence of mitomycin C. We conclude that this FA patient developed ALL followed by a therapy-related t(11;16)-AML resulting in an MLL-CBP fusion. | genomic_alterations | {
"id": 55824,
"name": "PAG1",
"pos": [
292,
3
]
} | {
"id": "C0023452",
"name": "Childhood Acute Lymphoblastic Leukemia",
"pos": [
225,
3
]
} |
The accumulation of p25 is implicated in several neurodegenerative diseases. | biomarker | {
"id": 54732,
"name": "TMED9",
"pos": [
20,
3
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
49,
26
]
} |
TLR2 contributes to the production of inflammatory cytokines and type 1 IFN as well as to the control of viral burden during infection with MHV-68. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
72,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
105,
12
]
} |
Passage-dependent expression patterns were observed for MMP8 and MMP9 in in-house-derived metastatic melanoma cell lines. | NA | {
"id": 4317,
"name": "MMP8",
"pos": [
56,
4
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
90,
19
]
} |
In SF, angiogenin concentrations were significantly higher in patients with acute or chronic synovitis (rheumatoid arthritis (RA): median, 104 ng/ml; range 13-748, n = 14; crystal-induced arthritis (CIA): median, 149 ng/ml; range, 37-616, n = 14, and other chronic inflammatory arthritis: median, 42 ng/ml; range, 15-205; n = 9) than in the 18 patients with osteoarthritis (OA) (median, 20 ng/ml; range 8-116) (P < 0.0001, anova). | NA | {
"id": 25842,
"name": "ASF1A",
"pos": [
199,
3
]
} | {
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
358,
14
]
} |
Comparison of the linkage map of mouse chromosome 9 (MMU9) and that of human chromosome 11 (HSA11) indicates that there is a chromosomal rearrangement due to an inversion between Ets1 and Atm-Npat-Acat1 and that the inversion of MMU9 originated from the chromosomal breakage at the boundary between Gria4 and Atm-Npat-Acat1 on HSA11. | NA | {
"id": 2113,
"name": "ETS1",
"pos": [
179,
4
]
} | {
"id": "C0376628",
"name": "Chromosome Breakage",
"pos": [
254,
20
]
} |
The aim of this study was to explore the role of immune modulation therapy in regulating the imbalance of Th1/Th2, serum IFN-γ, IL-4 and the T-cell-specific transcription factors T-bet/GATA-3 in peripheral blood in aging male patients with chronic cardiac insufficiency (CCI). | NA | {
"id": 30009,
"name": "TBX21",
"pos": [
179,
5
]
} | {
"id": "C0018801",
"name": "Heart failure",
"pos": [
248,
21
]
} |
Our findings suggest that inflammation in the CNS increases in normal aging and is intimately related to markers of neurodegeneration in the preclinical stages of AD and SNAP. | NA | {
"id": 6616,
"name": "SNAP25",
"pos": [
170,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
26,
12
]
} |
In the present work, we have tested the possibility that upregulation of the transcription factor interferon regulatory factor 3 (IRF3) can inhibit glioma invasiveness, proliferation and production of pro-inflammatory and pro-angiogenic factors in cultures of malignant glioma cell lines (U271, U87 and SNB-19). | NA | {
"id": 3661,
"name": "IRF3",
"pos": [
130,
4
]
} | {
"id": "C0555198",
"name": "Malignant Glioma",
"pos": [
260,
16
]
} |
We studied a population-based cohort of 288 sporadic ductal invasive cancers and found 9% positive for CK5/14 and 4% positive for p63. | NA | {
"id": 10970,
"name": "CKAP4",
"pos": [
130,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
44,
8
]
} |
Some studies found that AMPH-1 was a dominant autoantigen associated with breast cancer and melanoma. | biomarker | {
"id": 273,
"name": "AMPH",
"pos": [
24,
6
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
74,
13
]
} |
This study aimed at evaluating the impact of HLA-A and -DRB1 alleles on clinical variables in Scandinavian MS patients. | genomic_alterations | {
"id": 129831,
"name": "RBM45",
"pos": [
56,
4
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
107,
2
]
} |
The HNF1α-regulated lncRNA HNF1A-AS1 reverses the malignancy of hepatocellular carcinoma by enhancing the phosphatase activity of SHP-1. | therapeutic | {
"id": 6927,
"name": "HNF1A",
"pos": [
27,
5
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
50,
10
]
} |
We genotyped 6755 mother/infant pairs from the Avon Longitudinal Study of Parents and Children (ALSPAC) to determine whether maternal or fetal FVL or PT, either alone or in combination, are associated with fetal growth restriction (FGR) or pre-eclampsia (PE). | NA | {
"id": 2268,
"name": "FGR",
"pos": [
232,
3
]
} | {
"id": "C0013537",
"name": "Eclampsia",
"pos": [
244,
9
]
} |
A common deletion at chromosomal arm 14q32 in human renal cell carcinoma (RCC) prompted us to explore a tumor suppressor gene (TSG) in this region. | NA | {
"id": 57045,
"name": "TWSG1",
"pos": [
127,
3
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
52,
20
]
} |
Our results unraveled that increased SphK1 kinase activation defines an important mechanism for sunitinib resistance, therefore contributes to tumour development and represents therapeutic targets for ccRCC. | biomarker | {
"id": 8877,
"name": "SPHK1",
"pos": [
37,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
143,
6
]
} |
Placenta growth factor (PlGF) is an important co-factor in retinal neovascularization. | NA | {
"id": 5228,
"name": "PGF",
"pos": [
24,
4
]
} | {
"id": "C0035320",
"name": "Retinal Neovascularization",
"pos": [
59,
26
]
} |
Statistical analysis revealed that the presence of autoantibody to PARP was inversely related with pleurisy, and the presence of autoantibody to galectin-3 related with renal disease. | NA | {
"id": 142,
"name": "PARP1",
"pos": [
67,
4
]
} | {
"id": "C0032231",
"name": "Pleurisy",
"pos": [
99,
8
]
} |
We therefore assessed PIK3CA for mutation in human neuroblastomas, as well as in neuroblastomas arising in transgenic mice with MYCN overexpressed in neural-crest tissues. | NA | {
"id": 4613,
"name": "MYCN",
"pos": [
128,
4
]
} | {
"id": "C0206138",
"name": "CREST Syndrome",
"pos": [
157,
5
]
} |
Peripheral sensorimotor polyneuropathy, often as the initial major presenting feature but usually later accompanied by episodic rhabdomyolysis, is a manifestation of mild TFP protein deficiency. | NA | {
"id": 56658,
"name": "TRIM39",
"pos": [
171,
3
]
} | {
"id": "C0035410",
"name": "Rhabdomyolysis",
"pos": [
128,
14
]
} |
We have recently shown that polymorphism of the pro-inflammatory cytokine IL1A gene is strongly associated with atopy. | NA | {
"id": 3552,
"name": "IL1A",
"pos": [
74,
9
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
112,
5
]
} |
Chemoimmunotherapy with dacarbazine, cisplatin, interferon-alpha2b and interleukin-2 versus two cycles of dacarbazine followed by chemoimmunotherapy in patients with metastatic melanoma: a randomised phase II study of the European Organization for Research and Treatment of Cancer Melanoma Group. | therapeutic | {
"id": 3440,
"name": "IFNA2",
"pos": [
46,
19
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
281,
8
]
} |
In contrast, bilateral infusion of the antisense AAV-GABA(A) alpha1 vector (1 microl; 3 x 10(8) particles/microl) caused a 137% increase in the seizure duration. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
49,
3
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
144,
7
]
} |
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