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|---|---|---|---|
These results suggest that activation of HMGA2 gene expression through derepression of the ZBRK1/BRCA1/CtIP complex is a significant step in accelerating breast tumorigenesis. | NA | {
"id": 8091,
"name": "HMGA2",
"pos": [
41,
10
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
161,
13
]
} |
Microsomal epoxide hydrolase genotypes and the risk for head and neck cancer. | genomic_alterations | {
"id": 2052,
"name": "EPHX1",
"pos": [
0,
28
]
} | {
"id": "C0278996",
"name": "Malignant Head and Neck Neoplasm",
"pos": [
56,
20
]
} |
Accordingly, genetic deletion of Cxcl4 in mice significantly reduced histological and biochemical liver damage in vivo, which was accompanied by changes in the expression of fibrosis-related genes (Timp-1 [tissue inhibitor of matrix metalloproteinase 1], Mmp9 [matrix metalloproteinase 9], Tgf-beta [transforming growth factor beta], IL10 [interleukin 10]). | NA | {
"id": 4312,
"name": "MMP1",
"pos": [
226,
26
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
174,
8
]
} |
In vitro studies also confirmed that Tanshinone IIA alleviated the hypoxia-induced decline of cell viability and the overload of intracellular free iron level in neurons through downregulating the expression of DMT1 and TfR, and upregulating the expression of Fpn1 and Heph. | NA | {
"id": 9843,
"name": "HEPH",
"pos": [
269,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
67,
7
]
} |
Nine of 20 colorectal cancer patients, 1 of 13 renal cell carcinoma patients, and 2 of 17 lymphoma patients had a spontaneous CD8 T-cell response toward at least 1 of 6 PAX2 peptide pools. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
126,
3
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
47,
20
]
} |
EGFR-mediated interleukin enhancer-binding factor 3 contributes to formation and survival of cancer stem-like tumorspheres as a therapeutic target against EGFR-positive non-small cell lung cancer. | biomarker | {
"id": 3609,
"name": "ILF3",
"pos": [
14,
37
]
} | {
"id": "C1960925",
"name": "Epidermal growth factor receptor positive non-small cell lung cancer",
"pos": [
155,
40
]
} |
We show that BBS treatment induced inhibitor of NF kappa B degradation, NF kappa B translocation to the cell nucleus, increased NF kappa B binding to its DNA consensus sequence, and increased IL-8 and VEGF mRNA expression and protein secretion. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
192,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
83,
13
]
} |
The t(10;11)(p13;q14-21) is a non-random translocation that occurs primarily in T cell acute lymphoblastic leukemias (T-ALL), but has also been observed in leukemias and lymphomas of diverse lineages. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
13,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
41,
13
]
} |
Previously, we reported that WJ1376-1 and WJ1398-1 can induce cell-cycle arrest by activating ATR kinase (ataxia telangiectasia and rad3 related kinase) and inhibiting the phosphorylation of Aurora A kinase. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
94,
3
]
} | {
"id": "C0004135",
"name": "Ataxia Telangiectasia",
"pos": [
106,
21
]
} |
A functional RNAi screen for Runx2-regulated genes associated with ectopic bone formation in human spinal ligaments. | biomarker | {
"id": 860,
"name": "RUNX2",
"pos": [
29,
5
]
} | {
"id": "C0029396",
"name": "Heterotopic Ossification",
"pos": [
67,
22
]
} |
Hypoxia-inducible factor-1alpha (HIF-1alpha) is the transcriptional factor that conveys signaling elicited by hypoxia and growth factor receptors. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
33,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
110,
7
]
} |
N-myc downstream-regulated gene 1 downregulates cell proliferation, invasiveness, and tumorigenesis in human oral squamous cell carcinoma. | NA | {
"id": 4613,
"name": "MYCN",
"pos": [
0,
5
]
} | {
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
114,
23
]
} |
Naive ob/ob mice had a few necrotic and apoptotic hepatocytes, but exhibited little oxidative stress, possibly because of adaptive increases in manganese superoxide dismutase, heat shock protein 70 (Hsp70), mitochondrial cytochrome c, and mitochondrial DNA. | NA | {
"id": 54205,
"name": "CYCS",
"pos": [
221,
12
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
27,
8
]
} |
CONCLUSIONS: These findings suggest that OPTN in cooperation with TDP-43 might be involved in the pathophysiological mechanisms of skeletal muscular degeneration in myopathy with rimmed vacuoles. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
66,
6
]
} | {
"id": "C1853932",
"name": "Rimmed vacuoles on biopsy",
"pos": [
179,
15
]
} |
Association of ALOX12 gene polymorphism with all-cause and cardiovascular mortality in diabetic nephropathy. | genomic_alterations | {
"id": 239,
"name": "ALOX12",
"pos": [
15,
6
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
87,
20
]
} |
Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8). | NA | {
"id": 8905,
"name": "AP1S2",
"pos": [
298,
5
]
} | {
"id": "C0023267",
"name": "Fibroid Tumor",
"pos": [
46,
9
]
} |
The overlapping clinical and neuropathologic features between late-onset apparently sporadic Alzheimer's disease (LOAD), familial Alzheimer's disease (FAD), and other neurodegenerative dementias (frontotemporal dementia, corticobasal degeneration, progressive supranuclear palsy, and Creutzfeldt-Jakob disease) raise the question of whether shared genetic risk factors may explain the similar phenotype among these disparate disorders. | NA | {
"id": 675,
"name": "BRCA2",
"pos": [
151,
3
]
} | {
"id": "C0393570",
"name": "Corticobasal degeneration",
"pos": [
221,
25
]
} |
A significant difference was found between patients with a low expression of HSP27 (negative patients) and those with a high HSP27 expression (positive patients) of plasma levels both of antioxidants (GSH, p < 0.05), and of markers of enhanced production of free radicals and cytokines (alpha GST, TNF-alpha and IL-6, p < 0.05; MDA, 4-HNE and S-NO, p < 0.01) as well as for alcohol use and degree of liver impairment. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
312,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
374,
11
]
} |
All cytogenetic aberrations were transient and disappeared, except a +X detected by FISH in a residual cell population in one of the patients. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
84,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
4,
23
]
} |
Of note, a mutant mouse, staggerer, in which the orphan nuclear hormone receptor ROR alpha gene is disrupted, exhibits cerebellar abnormalities similar to those seen in the hypothyroid animals, despite normal thyroid function. | NA | {
"id": 100885779,
"name": "LINC-ROR",
"pos": [
81,
3
]
} | {
"id": "C0020676",
"name": "Hypothyroidism",
"pos": [
173,
11
]
} |
Notably, serum proteins from wild-type and tumor bearing mice were extracted with a lysis buffer containing 5 mol/L urea, 2 mol/L thiourea, 40 mmol/L Tris, 4% CHAPS, 100 mmol/L DTT, 0.5% BioLyte 3-10, separated by 2-DE and studied by image analysis. | NA | {
"id": 56980,
"name": "PRDM10",
"pos": [
150,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
43,
5
]
} |
Thus, our data point to a novel pathogenic pathway, where dysregulation of RIG-I/MDA5 signalling leads to the over-production of type I IFN, a key early mediator of epithelial inflammation. | NA | {
"id": 64135,
"name": "IFIH1",
"pos": [
81,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
176,
12
]
} |
Growth hormone binding protein in normal and aneuploid pregnancy: a paradoxical decrease in trisomy 18. | NA | {
"id": 2690,
"name": "GHR",
"pos": [
0,
30
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
45,
9
]
} |
We have reported that molecules that regulate PGD<sub>2</sub> metabolism play roles in the pathogenesis of CRS including in local eosinophilia and type 2 cytokine production. | biomarker | {
"id": 7291,
"name": "TWIST1",
"pos": [
119,
3
]
} | {
"id": "C1306759",
"name": "Eosinophilic disorder",
"pos": [
142,
12
]
} |
We identified two patients with visceral leishmaniasis who had autosomal recessive IL-12 p40 and IL-12Rβ1 deficiencies, respectively. | genomic_alterations | {
"id": 10314,
"name": "LANCL1",
"pos": [
89,
3
]
} | {
"id": "C0023290",
"name": "Leishmaniasis, Visceral",
"pos": [
32,
22
]
} |
Two functional variants in the IL-6 promoter have previously been associated with IL-6 expression, bone resorption levels, and BMD in late postmenopausal women, but results were conflicting in different populations. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
82,
4
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
99,
15
]
} |
We hypothesized that women, when compared to men, would show greater IL-6 reactivity when exposed to acute pain in a human laboratory setting. | biomarker | {
"id": 3569,
"name": "IL6",
"pos": [
69,
4
]
} | {
"id": "C0184567",
"name": "Acute onset pain",
"pos": [
101,
10
]
} |
Apolipoprotein A-II (APOA2) plays an ambiguous role in lipid metabolism, obesity, and atherosclerosis. | biomarker | {
"id": 80350,
"name": "LPAL2",
"pos": [
0,
19
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
86,
15
]
} |
<b>Purpose:</b> The aim of this study was to compare the effect of an ultrasound-guided transversus abdominis plane block (TAPB) and rectus sheath block (RSB) combination, an ultrasound-guided posterior TAP block combined with the local anesthetic infiltration (LAI) and LAI alone on pain relief after laparoscopic cholecystectomy (LC). | biomarker | {
"id": 8615,
"name": "USO1",
"pos": [
215,
3
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
296,
4
]
} |
They also verified whether any polymorphism in the MTHFR gene was associated with the risk of DS. | genomic_alterations | {
"id": 4524,
"name": "MTHFR",
"pos": [
51,
5
]
} | {
"id": "C4521042",
"name": "Complete Trisomy 21 Syndrome",
"pos": [
94,
2
]
} |
Allele A*02 was more frequent in the asymptomatic group and in its absence, Cw*07 was correlated with HAM/TSP (P = 0.002). | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
106,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
37,
12
]
} |
We elucidated the protective mechanism of increased prostacyclin (PGI2) derived from adenoviral cyclo-oxygenase (COX)-1/prostacyclin synthase (PGIS) (Adv-COPI) gene transfer in rat kidneys with ischemia-reperfusion (I/R) injury. | NA | {
"id": 5740,
"name": "PTGIS",
"pos": [
143,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
194,
8
]
} |
Twenty-two percent of the tumors had mutant TP53 and 20% MDM2 gene amplification. | genomic_alterations | {
"id": 4193,
"name": "MDM2",
"pos": [
57,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
26,
6
]
} |
Both miR-29b-1* and miR-29c regulate cell growth in BUC. | biomarker | {
"id": 407026,
"name": "MIR29C",
"pos": [
20,
7
]
} | {
"id": "C0279680",
"name": "Transitional cell carcinoma of bladder",
"pos": [
52,
3
]
} |
Also, CD4(+) T cell count, viral load, antiretroviral therapy, and human CCR5-Δ32 and CCR2-64I genotypes were analyzed. | NA | {
"id": 920,
"name": "CD4",
"pos": [
6,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
27,
10
]
} |
Five cases showed the ALL breakpoint, while one child with Ph1/-7 showed the chronic myelogenous leukemia breakpoint. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
59,
3
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
77,
28
]
} |
B cell translocation gene 2 (BTG2) is a p53 target that negatively regulates cell cycle progression in response to DNA damage and other stress. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
40,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
7,
13
]
} |
Chromogenic in situ hybridization is a reliable method for detecting HER2 gene status in breast cancer: a multicenter study using conventional scoring criteria and the new ASCO/CAP recommendations. | biomarker | {
"id": 9200,
"name": "HACD1",
"pos": [
177,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
89,
13
]
} |
Mutant p53 oncogenic functions in cancer stem cells are regulated by WIP through YAP/TAZ. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
7,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
34,
6
]
} |
Including a subsequent analysis of a larger cohort, activating FGFR1 mutations were detected in three of 80 sporadic pheochromocytomas (3.8%). | genomic_alterations | {
"id": 2260,
"name": "FGFR1",
"pos": [
63,
5
]
} | {
"id": "C0031511",
"name": "Pheochromocytoma",
"pos": [
117,
17
]
} |
Collectively, these results suggest that the blood pressure lowering effect of olmesartan in KKAy mice is associated with an improvement in adipocyte, including suppression of adipocyte hypertrophy and inhibition of the adipose IL-6-oxidative stress axis. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
228,
4
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
45,
14
]
} |
We investigated whether digoxin could suppress tumor cell growth through HIF-1α in non-small cell lung cancer cells (A549 cells) under hypoxic conditions. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
73,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
135,
7
]
} |
Low frequency of N-myc, C-myc, and epidermal grow factor receptor (EGFR) gene amplification (< 10%) has been reported in medulloblastoma. | biomarker | {
"id": 1956,
"name": "EGFR",
"pos": [
67,
4
]
} | {
"id": "C0278510",
"name": "Childhood Medulloblastoma",
"pos": [
124,
15
]
} |
Here, we identify stress-inducible mTOR inhibitor REDD1 (regulated in development and DNA damage response 1) as a major molecular target of glucocorticoids, which mediates cutaneous atrophy. | NA | {
"id": 54541,
"name": "DDIT4",
"pos": [
50,
5
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
182,
7
]
} |
Some recent data have indicated that it may also be associated with autoimmune connective tissue diseases, including systemic sclerosis and dermatomyositis; however, studies on the prevalence and clinical characteristics of pruritus in CLE are limited. | genomic_alterations | {
"id": 51637,
"name": "RTRAF",
"pos": [
236,
3
]
} | {
"id": "C0036421",
"name": "Systemic Scleroderma",
"pos": [
117,
18
]
} |
The main aim of this study was to determine whether overexpression of PC-1 might contribute to the severe insulin resistance exhibited by some patients with pseudo-acromegaly. | NA | {
"id": 5167,
"name": "ENPP1",
"pos": [
70,
4
]
} | {
"id": "C0001206",
"name": "Acromegaly",
"pos": [
164,
10
]
} |
The clinical presentation of Lrrk2 p.R1441C carriers was similar to sporadic PD and Lrrk2 p.G2019S parkinsonism. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
84,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
68,
8
]
} |
For the interferon regulatory factor (IRF) family of transcription factors, mice deficient in Irf1, Irf2, Irf3, Irf4, Irf5, Irf7, Irf8 or Irf9 have defects in the immune response but show no embryologic abnormalities. | NA | {
"id": 3663,
"name": "IRF5",
"pos": [
118,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
203,
13
]
} |
Overall, our results establish that EGFR-MET signaling is critical for aggressive behavior of NSCLCs and rationalize its continued investigation as a therapeutic target for tumors harboring both wild-type and mutant EGFR at early stages of progression. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
216,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
71,
19
]
} |
We examined the relationship between a cough and ACE gene polymorphism, plasma bradykinin (BK), substance P (SP) and ACE inhibitor concentrations in patients with hypertension or chronic nephritis. | NA | {
"id": 6863,
"name": "TAC1",
"pos": [
96,
11
]
} | {
"id": "C2364010",
"name": "Chronic nephritis",
"pos": [
179,
17
]
} |
Plasma ACTH did not increase after hemorrhage 30 min or 4 days after NTS lesions when compared with the other groups (sham, sham with hexamethonium, and missed lesion) and to prelesion controls. | NA | {
"id": 4922,
"name": "NTS",
"pos": [
69,
3
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
35,
10
]
} |
The somatic mutation and copy number changes of CARD11, A20, and ABIN-1/2/3 were investigated in 71 gastrointestinal DLBCLs by PCR/sequencing, and interphase FISH/array comparative genomic hybridization, respectively. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
158,
4
]
} | {
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
4,
16
]
} |
Rebound in viremia induced by therapy interruption showed a positive association between TRAIL and viral load or T-cell activation, but comparable levels of plasma IFN-alpha/beta were found in viremic ART-treated and control subjects. | NA | {
"id": 181,
"name": "AGRP",
"pos": [
201,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
99,
10
]
} |
Moreover, the loss-of-function R441H mutation of TPH2 was not present in the panic disorder patients. | NA | {
"id": 6999,
"name": "TDO2",
"pos": [
49,
4
]
} | {
"id": "C0030319",
"name": "Panic Disorder",
"pos": [
77,
14
]
} |
Plasma samples were analyzed for the concentration of C-reactive protein (CRP), fibrinogen, d-dimer, plasminogen activator inhibitor type-1 (PAI-1) antigen and activity, tissue-type plasminogen activator (t-PA) antigen and activity, factor VII (FVII) antigen, FVII coagulant activity (FVII:C) and activated FVII (FVIIa). | NA | {
"id": 2155,
"name": "F7",
"pos": [
233,
10
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
80,
10
]
} |
The detection of a lymphoproliferative disease of a CD3+, CD4-, CD8-, alpha/beta + cell may contribute to a better characterization of this novel lymphocytic subpopulation. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
64,
3
]
} | {
"id": "C0024314",
"name": "Lymphoproliferative Disorders",
"pos": [
19,
27
]
} |
We genotyped three groups of Korean children, consisting of 196 atopic asthmatics, 60 non-atopic asthmatics, and 100 healthy children, for an IL-4 promoter polymorphism (C-590T) and three IL-4Ralpha polymorphisms (Ile50Val, Pro478Ser, and Arg551Gln) using PCR-RFLP (restriction fragment length polymorphism) assays. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
142,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
90,
6
]
} |
WBC DNA methylation was analysed by bisulphite pyrosequencing at ataxia telangiectasia mutated (ATM), estrogen receptor 1 (ESR1), progesterone receptor (PGR), mutL homologue 1 (MLH1), breast cancer susceptibility gene (BRCA1), secreted frizzled-related protein 1 (SFRP1), stratifin (SFN), retinoic acid receptor beta (RARB) loci and the repetitive element LINE1 in 880 SCOTROC1 trial patients [paclitaxel (Taxol)-carboplatin versus docetaxel (Taxotere)-carboplatin as primary chemotherapy for stage Ic-IV epithelial ovarian cancer]. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
219,
5
]
} | {
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
505,
25
]
} |
We analysed several ligands and receptors of the alternative NF-κB pathway, RelB, p52 nuclear translocation and target genes in tissue samples of <i>H. pylori</i>-infected patients with different degrees of gastritis or early gastric tumours by in situ hybridisation, immunohistochemistry, Western blot and real-time PCR analyses. | genomic_alterations | {
"id": 2288,
"name": "FKBP4",
"pos": [
82,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
246,
7
]
} |
Increasing the expression of BMP7 or the activity of BMP receptors in muscles induced hypertrophy that was dependent on Smad1/5-mediated activation of mTOR signaling. | NA | {
"id": 655,
"name": "BMP7",
"pos": [
29,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
86,
11
]
} |
TP53 mutational analysis supports monoclonal origin of biphasic sarcomatoid urothelial carcinoma (carcinosarcoma) of the urinary bladder. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
0,
4
]
} | {
"id": "C0007140",
"name": "Carcinosarcoma",
"pos": [
98,
14
]
} |
Here, we elucidate the role of human deneddylase-1 (DEN-1, also called SENP8) in inflammatory responses in vitro and in vivo and define conditions for targeting neddylation in models of mucosal inflammation. | NA | {
"id": 123228,
"name": "SENP8",
"pos": [
71,
5
]
} | {
"id": "C0333355",
"name": "Inflammatory disease of mucous membrane",
"pos": [
186,
20
]
} |
Using repeated fluorescence in situ hybridization and high-resolution cytometry, 2D radial positions of EWSR1, BCR, FLI1, BCL1 genes and fluorescence weight centres of chromosome territories were compared for intact and derivative chromosomes 11 and 22 in nuclei of three Ewing sarcoma samples. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
122,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
150,
6
]
} |
The varied G allele of GSTP1 may be considered as a factor contributing to increased susceptibility, whereas the T allele of GSTA1 could be a protective factor for tumor size progression in Taiwanese with oral cancer. | genomic_alterations | {
"id": 2938,
"name": "GSTA1",
"pos": [
125,
5
]
} | {
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
205,
11
]
} |
Diagnostic utility of IDH1- and p53-mutation analysis in secondary gliosarcoma. | genomic_alterations | {
"id": 3417,
"name": "IDH1",
"pos": [
22,
4
]
} | {
"id": "C3899658",
"name": "Childhood Gliosarcoma",
"pos": [
67,
11
]
} |
Here, we report that hypoxia upregulated the expression of SCF in MCF-7 breast cancer cells in both messenger RNA and protein levels. | NA | {
"id": 4254,
"name": "KITLG",
"pos": [
59,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
21,
7
]
} |
The polymorphism of MDR1 gene may be a valuable molecular marker for HCC recurrence after LT. | genomic_alterations | {
"id": 23158,
"name": "TBC1D9",
"pos": [
20,
4
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
69,
3
]
} |
We investigated the relevant genomic region of the keratin 8 gene in 80 patients with familial pancreatitis without a cationic trypsinogen (PRSS1) gene mutation from 52 different families, 21 patients with familial hereditary pancreatitis and a PRSS1 mutation from 20 different families, 126 patients with sporadic pancreatitis without a PRSS1 mutation, 61 patients with alcoholic pancreatitis and 271 controls by direct DNA sequencing. | NA | {
"id": 3856,
"name": "KRT8",
"pos": [
51,
14
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
306,
8
]
} |
Understanding molecular mechanisms that regulate the EMT process is crucial for improving treatment of hepatocellular carcinoma (HCC). | NA | {
"id": 3702,
"name": "ITK",
"pos": [
53,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
103,
24
]
} |
MTR A2756G was associated with the development, but not progression, of IgA nephropathy. | genomic_alterations | {
"id": 4548,
"name": "MTR",
"pos": [
0,
3
]
} | {
"id": "C0017661",
"name": "IGA Glomerulonephritis",
"pos": [
72,
15
]
} |
We hypothesized that level of IFN-γ, genetic variants of IFN-γ and BANCR gene should be associated with the occurrence of CAD. | genomic_alterations | {
"id": 100885775,
"name": "BANCR",
"pos": [
67,
5
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
122,
3
]
} |
and one fusion-gene CT [t(2;5)(p23;q35)] from lymphomas and five fusion-gene CTs from leukemia [t(9;22)(q34;q11), t(4;11)(q21;q23), t(15;17)(q22;q11), t(12;21)(p13;q22), t(8;21)(q22;q22)] were detected in such studies. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
160,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
46,
9
]
} |
We have determined a single amino acid substitution in a new phosphoglycerate kinase (PGK) variant, PGK Shizuoka, associated with chronic hemolysis and myoglobinuria. | NA | {
"id": 5592,
"name": "PRKG1",
"pos": [
100,
3
]
} | {
"id": "C0027080",
"name": "Myoglobinuria",
"pos": [
152,
13
]
} |
CDH1 methylation was detected by real-time methylation specific-PCR in tumor tissues and corresponding PPW from 92 gastric cancer patients, gastric mucosa from 40 chronic gastritis patients and 48 normal persons. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
0,
4
]
} | {
"id": "C0085695",
"name": "Chronic gastritis",
"pos": [
163,
17
]
} |
Treatment-naïve HCV genotype 1 or 4 patients were randomized to double-blind treatment with oral mericitabine at a dosage of 500 mg twice-daily (BID) for 12 weeks (A), 1,000 mg BID for 8 (B) or 12 weeks (C and D), or placebo BID for 12 weeks (E). | NA | {
"id": 637,
"name": "BID",
"pos": [
225,
3
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
71,
5
]
} |
Adenoviral-mediated PKC-beta(2) overexpression enhanced ROS generation by modulating the membranous translocation of p47phox and p67phox in cultured mesangial cells. | NA | {
"id": 653361,
"name": "NCF1",
"pos": [
117,
7
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
100,
13
]
} |
On this basis, we hypothesized that overexpression of PXN induced by suppression of miR-137 may promote tumor progression and metastasis and predicts poor prognosis. | NA | {
"id": 7837,
"name": "PXDN",
"pos": [
54,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
104,
17
]
} |
Participants, who were also genotyped for the COMT(val158met) and DRD4(48bp-VNTR) polymorphisms, performed a hypothetical and a real-time discounting task and provided self-ratings of trait impulsivity. | genomic_alterations | {
"id": 1815,
"name": "DRD4",
"pos": [
66,
4
]
} | {
"id": "C0021125",
"name": "Impulsive Behavior",
"pos": [
190,
11
]
} |
To the best of our knowledge, this is the first reported case of a novel complex variant translocation of t(11;14)(q13;q32) and t(9;14)(p13;q32). | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
136,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
89,
13
]
} |
CYP1A2 is not the primary enzyme responsible for 4-aminobiphenyl-induced hepatocarcinogenesis in mice. | biomarker | {
"id": 1544,
"name": "CYP1A2",
"pos": [
0,
6
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
73,
20
]
} |
Patients with CACNA1A variants often show acute attacks with ataxia or hemiplegia till coma, sometimes related to unilateral brain oedema. | genomic_alterations | {
"id": 773,
"name": "CACNA1A",
"pos": [
14,
7
]
} | {
"id": "C0018991",
"name": "Hemiplegia",
"pos": [
71,
10
]
} |
Screening of a human erythroleukemia cell cDNA library with radiolabeled chicken P2Y3 cDNA at low stringency revealed a cDNA clone encoding a novel G protein-coupled receptor with homology to P2 purinoceptors. | biomarker | {
"id": 148,
"name": "ADRA1A",
"pos": [
148,
26
]
} | {
"id": "C4520840",
"name": "Erythroleukemia (Erythroid/Myeloid)",
"pos": [
21,
15
]
} |
This study was designed to evaluate the role of angiotensin II subtype receptor 1a (AT1a) in the formation of liver metastasis in CRC. | biomarker | {
"id": 183,
"name": "AGT",
"pos": [
48,
14
]
} | {
"id": "C0494165",
"name": "Secondary malignant neoplasm of liver",
"pos": [
110,
16
]
} |
We further show that stabilized RPF2 can protect photoreceptors and prevent blindness in treated mice. | biomarker | {
"id": 84154,
"name": "RPF2",
"pos": [
32,
4
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
76,
9
]
} |
Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) gene therapy and canstatin gene therapy have been investigated extensively in human xenograft tumor models established in immunocompromised nude mice. | genomic_alterations | {
"id": 8743,
"name": "TNFSF10",
"pos": [
57,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
158,
5
]
} |
Our data showed the down-regulation of miR-20b, miR-27a, miR-181a concomitantly to higher levels of MDR1, HIF1A and HIPK2 genes in GC patients with a progressive disease respect to those with a disease control rate. | genomic_alterations | {
"id": 28996,
"name": "HIPK2",
"pos": [
116,
5
]
} | {
"id": "C0677932",
"name": "Progressive Neoplastic Disease",
"pos": [
150,
19
]
} |
We used direct sequencing and multiplex ligation-dependent probe amplification to screen for CYP7B1 alterations in apparently sporadic HSP patients (n = 12) as well as index patients from non-consanguineous families with recessive (n = 8) and dominant (n = 8) transmission of HSP. | NA | {
"id": 9420,
"name": "CYP7B1",
"pos": [
93,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
126,
8
]
} |
As a consequence, cells expressing p53 K351N mutant showed defects in cisplatin-induced translocation of p53 to mitochondria, Bax oligomerization, and mitochondrial membrane depolarization. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
105,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
88,
13
]
} |
This study determined the frequencies of PROCR haplotypes H1-4 and plasma levels of sEPCR in a Tanzanian study population to investigate a possible association with severe malaria. | NA | {
"id": 3008,
"name": "H1-4",
"pos": [
58,
4
]
} | {
"id": "C2747816",
"name": "Complicated malaria",
"pos": [
165,
14
]
} |
In humans, sex-determining region-Y (SRY) related high-mobility-group box 4 (SOX4) is linked to development and tumorigenesis. | NA | {
"id": 6659,
"name": "SOX4",
"pos": [
77,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
112,
13
]
} |
The Pro(12)Ala (P12A) variant of exon B of the peroxisome proliferator-activated receptor gamma(2) (PPAR gamma) been variably associated with obesity, insulin sensitivity, diabetes, and dyslipidemia, but its role in insulin resistance-associated traits remains uncertain. | NA | {
"id": 54512,
"name": "EXOSC4",
"pos": [
16,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
216,
18
]
} |
Among 52 other CNS tumors, TTF-1 expression was found in 1 of 3 central neurocytoma (the only CNS tumor with a moderate, diffuse staining), 1 of 18 ependymal tumors, and 1 of 5 choroid plexus tumors, whereas 4 pineal tumors, 11 meningiomas, 8 embryonal tumors, and 4 mixed neuronal-glial tumors all were negative. | NA | {
"id": 7080,
"name": "NKX2-1",
"pos": [
27,
5
]
} | {
"id": "C0206719",
"name": "Central Neurocytoma",
"pos": [
64,
19
]
} |
Therapy with oral MEK inhibitors before or after checkpoint inhibitor therapy showed a trend toward a survival benefit in patients with NRAS mutant melanoma. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
136,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
148,
8
]
} |
Hdac3-Tg mice did not develop cardiac hypertrophy at 3 months of age, unlike previously reported Hdac2-Tg mice. | NA | {
"id": 8841,
"name": "HDAC3",
"pos": [
0,
5
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
30,
19
]
} |
This study is the first to demonstrate the association of HLA-A 31:01 with CBZ hypersensitivity in children, providing important replication of this association and highlighting the importance of HLA-A 31:01 as a predictive biomarker across various ancestries. | NA | {
"id": 3105,
"name": "HLA-A",
"pos": [
196,
5
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
79,
16
]
} |
In patients with probable AD, APOE*4 is associated with cardiac disease indicative of left ventricular dysfunction. | NA | {
"id": 348,
"name": "APOE",
"pos": [
30,
4
]
} | {
"id": "C0242698",
"name": "Ventricular Dysfunction, Left",
"pos": [
86,
28
]
} |
The aim of the study was to investigate whether factor V Leiden and prothrombin G20210A mutations, elevated levels of factor VIII and factor IX are associated with pulmonary embolism (PE). | NA | {
"id": 2157,
"name": "F8",
"pos": [
118,
11
]
} | {
"id": "C0034065",
"name": "Pulmonary Embolism",
"pos": [
164,
18
]
} |
We hypothesize that the mimecan gene expressed in the human pituitary and regulated by pituitary transcription factor-1 (Pit-1) might act as a marker for diagnosing pituitary tumors. | NA | {
"id": 4969,
"name": "OGN",
"pos": [
24,
7
]
} | {
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
165,
16
]
} |
Type I interferons alpha and beta (IFN-α and IFN-β) are key cytokines involved in innate immunity, and IFN-α, in combination with other antivirals, is extensively used in the treatment of HTLV-1 infection. | biomarker | {
"id": 3456,
"name": "IFNB1",
"pos": [
45,
5
]
} | {
"id": "C0020097",
"name": "HTLV-I Infections",
"pos": [
188,
16
]
} |
We used CD151 gene-deleted mice expressing the MMTV-ErbB2 transgene to show that CD151 strongly supports ErbB2+ mammary tumor initiation and metastasis. | NA | {
"id": 977,
"name": "CD151",
"pos": [
81,
5
]
} | {
"id": "C0598935",
"name": "Tumor Initiation",
"pos": [
120,
16
]
} |
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