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dict |
|---|---|---|---|
Here, we report that systemic overexpression of Ang-2 leads to unexpected massive tumor vessel regression within 24 h, even without concomitant inhibition of VEGF.
|
NA
|
{
"id": 7422,
"name": "VEGFA",
"pos": [
158,
4
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
95,
10
]
}
|
The phenotypic consequences of a nucleotide excision repair (NER) defect in man are apparent from three distinct inborn diseases characterized by hypersensitivity of the skin to ultraviolet light and a remarkable clinical and genetic heterogeneity.
|
NA
|
{
"id": 7376,
"name": "NR1H2",
"pos": [
61,
3
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
146,
16
]
}
|
DNA methylation changes in neuroblastoma affect not only promoters but also intragenic and intergenic regions at cytosine-phosphate-guanine (CpG) and non-CpG sites, and target functional chromatin domains of development and cancer-related genes such as CCND1.
|
genomic_alterations
|
{
"id": 595,
"name": "CCND1",
"pos": [
253,
5
]
}
|
{
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
27,
13
]
}
|
We observed that triple therapy, white blood cell count, hemoglobin value, hepatitis C viral load, a rapid virological response (RVR), IL28B TT genotype, and KIR3DL1-HLA-Bw4 genotype were associated with an SVR.
|
NA
|
{
"id": 9975,
"name": "NR1D2",
"pos": [
129,
3
]
}
|
{
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
57,
10
]
}
|
Advances in the field of hyperinsulinaemic hypoglycaemia include use of rapid molecular genetic testing for the disease, application of novel imaging techniques (6-[fluoride-18]fluoro-levodopa [<sup>18</sup>F-DOPA] PET-CT and glucagon-like peptide 1 (GLP-1) receptor imaging), and development of novel medical treatments (eg, long-acting octreotide formulations, mTOR inhibitors, and GLP-1 receptor antagonists) and surgical therapies (eg, laparoscopic surgery).
|
genomic_alterations
|
{
"id": 2740,
"name": "GLP1R",
"pos": [
396,
14
]
}
|
{
"id": "C1864903",
"name": "Hyperinsulinemic hypoglycemia",
"pos": [
25,
31
]
}
|
Reversing effect and mechanism of soluble resistance-related calcium-binding protein on multidrug resistance in human lung cancer A549/DDP cells.
|
biomarker
|
{
"id": 51150,
"name": "SDF4",
"pos": [
61,
23
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
118,
11
]
}
|
Furthermore, injection of normal bone marrow cells into the T-cell deficient mice led to the generation of mature T cells indicating that the T-cell deficiency was caused by the action of HSP70 in T cells.
|
biomarker
|
{
"id": 3308,
"name": "HSPA4",
"pos": [
188,
5
]
}
|
{
"id": "C1744558",
"name": "T-lymphocyte deficiency",
"pos": [
142,
17
]
}
|
Unique microRNAs in lung adenocarcinoma groups according to major TKI sensitive EGFR mutation status.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
80,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
20,
19
]
}
|
The frequency of tumors with chromosomal aberrations detected by FISH increased with the number of chromosomes examined.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
65,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
29,
23
]
}
|
Increased abundance of the adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and leucine zipper motif (APPL1) in patients with obesity and type 2 diabetes: evidence for altered adiponectin signalling.
|
biomarker
|
{
"id": 5341,
"name": "PLEK",
"pos": [
54,
10
]
}
|
{
"id": "C0028754",
"name": "Obesity",
"pos": [
163,
7
]
}
|
We analysed 26 metastases from 25 patients with sporadic cutaneous malignant melanoma for alterations in the CDKN2 gene by a combined polymerase chain reaction/single-strand conformation polymorphism (PCR/SSCP)/nucleotide sequencing approach.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
109,
10
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
48,
8
]
}
|
We have detected mortalin-p53 interactions in liver tumor and five HCC cell lines that harbored mutant p53.
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
67,
3
]
}
|
{
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
46,
11
]
}
|
We investigated the involvement of cell cycle-related kinase (CCRK), a novel protein kinase that is homologous to cyclin-dependent kinase 7, in glioblastoma multiforme carcinogenesis.
|
NA
|
{
"id": 23552,
"name": "CDK20",
"pos": [
62,
4
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
168,
14
]
}
|
The dysfunction of the bone marrow preceding ALL is due to transient aplastic anaemia--spontaneous remission--overt ALL, often FAB type L1, immunophenotype CALLA.
|
NA
|
{
"id": 4311,
"name": "MME",
"pos": [
156,
5
]
}
|
{
"id": "C0002874",
"name": "Aplastic Anemia",
"pos": [
69,
16
]
}
|
Whether the aldosterone synthase gene polymorphism (ASGP) CYP11B2 influences the age-related changes in blood pressure (BP) and arterial stiffness in hypertensive subjects has never been investigated.
|
NA
|
{
"id": 1585,
"name": "CYP11B2",
"pos": [
58,
7
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
104,
14
]
}
|
Here, we show that both normal and tumor cells expressing the protein kinase Akt2 are more resistant to hypoxia than cells expressing Akt1 or Akt3.
|
NA
|
{
"id": 208,
"name": "AKT2",
"pos": [
77,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
104,
7
]
}
|
In the present study, we examined the association of RAS pathway gene polymorphisms, angiotensin converting enzyme (ACE), angiotensinogen (AGT), and angiotensin receptor type 1 (AGTR1) with risk and disease severity in Asian Indian idiopathic cardiomyopathy patients.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
116,
3
]
}
|
{
"id": "C0033141",
"name": "Cardiomyopathies, Primary",
"pos": [
232,
25
]
}
|
Interleukin (IL)-12 is thought to play an important role in the development of atherosclerosis and recently, polymorphism of the 3'-untranslated region of the IL-12 p40 gene (A1188C) was reported to be associated with diabetes and multiple sclerosis.
|
genomic_alterations
|
{
"id": 10244,
"name": "RABEPK",
"pos": [
165,
3
]
}
|
{
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
79,
15
]
}
|
The high frequency of PDGFB rearrangement in vulvar DFSP provides a useful exploit in diagnostically challenging cases and genetic evidence of probable clinical response to targeted therapeutics in cases of locally advanced or metastatic tumors.
|
genomic_alterations
|
{
"id": 5155,
"name": "PDGFB",
"pos": [
22,
5
]
}
|
{
"id": "C0392784",
"name": "Dermatofibrosarcoma Protuberans",
"pos": [
52,
4
]
}
|
Serologic analysis of class I documented the association of type I psoriasis with HLA-Cw6, -B13, and -B57, whereas type II psoriasis showed a weaker correlation with HLA-Cw2 and -B27.
|
NA
|
{
"id": 56246,
"name": "MRAP",
"pos": [
179,
3
]
}
|
{
"id": "C0033860",
"name": "Psoriasis",
"pos": [
123,
9
]
}
|
Depletion of NPHP5, or expression of NPHP5 mutant missing one binding site, specifically leads to dissociation of BBS2 and BBS5 from the BBSome and loss of ciliary BBS2 and BBS5 without compromising the ability of the other subunits to traffic into cilia.
|
NA
|
{
"id": 583,
"name": "BBS2",
"pos": [
164,
4
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
98,
12
]
}
|
There was a significant reduction of receptors for lipoproteins in nearly all tissues in NS compared with CTRL and analbuminemia.
|
NA
|
{
"id": 1506,
"name": "CTRL",
"pos": [
106,
4
]
}
|
{
"id": "C0878666",
"name": "Analbuminemia",
"pos": [
115,
13
]
}
|
However, NCAD-mediated adhesion is a robust phenomenon and therefore seems to be inconsistent with the "release" from intercellular adhesion required for invasion.
|
NA
|
{
"id": 1000,
"name": "CDH2",
"pos": [
10,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
133,
8
]
}
|
The changes in expression and distribution of VEGF, AQP1 and AQP4 during encephaledema caused by hypoxic exposure may induce blood-brain barrier injury, and may be one of the pathogenesis of hypoxic encephaledema.
|
NA
|
{
"id": 358,
"name": "AQP1",
"pos": [
52,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
191,
7
]
}
|
BRCA1-associated cancers showed microlobulated margins in 53.3% versus 33.8% (sporadic) and 33.3% (BRCA2).
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
0,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
78,
8
]
}
|
In human colorectal tumors, expression of EMT markers was significantly associated with adverse clinicopathologic features and the absence of MSI.
|
NA
|
{
"id": 3702,
"name": "ITK",
"pos": [
42,
3
]
}
|
{
"id": "C0009404",
"name": "Colorectal Neoplasms",
"pos": [
9,
17
]
}
|
Our data show that p34(SEI-1) enhances cancer cell survival and promotes tumorigenesis by downregulating the tumor suppressor PTEN, a negative regulator of the PI3K/AKT signaling pathway, and therefore activating the PI3K/AKT signaling pathway.
|
NA
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
217,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
73,
13
]
}
|
Two-color fluorescence in situ hybridization (FISH) with ABL and BCR probes revealed presence of a "fusion" signal, but its atypical localization [der(9)] and gene order [cen-ABL-BCR-tel] indicated that this translocation differed from the t(9;22) in chronic myeloid leukemia and did not involve either ABL or BCR.
|
NA
|
{
"id": 613,
"name": "BCR",
"pos": [
310,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
208,
13
]
}
|
Tropomyosin-1 promotes cancer cell apoptosis via the p53-mediated mitochondrial pathway in renal cell carcinoma.
|
biomarker
|
{
"id": 7168,
"name": "TPM1",
"pos": [
0,
13
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
23,
6
]
}
|
We assessed heat shock protein 60 (hsp60) gene expression as an index of cellular stress and C-reactive protein, erythrocyte sedimentation rate, and fibrinogen as systemic inflammatory markers.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
93,
18
]
}
|
{
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
113,
30
]
}
|
The following clinical situations were evaluated: conventional CT suspicion of an aneurysm; follow-up of treated aneurysm remnants or of untreated aneurysms; subarachnoid haemorrhage (SAH) and negative angiography; family or past aneurysm history; and for improved definition of aneurysm anatomy.
|
NA
|
{
"id": 6296,
"name": "ACSM3",
"pos": [
184,
3
]
}
|
{
"id": "C0002940",
"name": "Aneurysm",
"pos": [
279,
8
]
}
|
We have determined the MHC class II (DRB1, DQA1, DQB1, DPB1) and class III (TNF, HSP70, C4, 21OH) gene polymorphism in patients with Addison's disease.
|
genomic_alterations
|
{
"id": 3115,
"name": "HLA-DPB1",
"pos": [
55,
4
]
}
|
{
"id": "C0001403",
"name": "Addison Disease",
"pos": [
133,
17
]
}
|
Genetic polymorphism of manganese superoxide dismutase is associated with childhood asthma.
|
NA
|
{
"id": 6648,
"name": "SOD2",
"pos": [
24,
30
]
}
|
{
"id": "C0264408",
"name": "Childhood asthma",
"pos": [
74,
16
]
}
|
To specifically help explain the diagnostic gap of TP53 wild-type Li-Fraumeni(-like) breast cancer cases, we performed array-based CGH (comparative genomic hybridization) and panel-based sequencing of 94 cancer predisposition genes on 83 breast cancer patients suggestive of Li-Fraumeni syndrome who had previously had negative test results for causative BRCA1, BRCA2, and TP53 germline variants.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
51,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
204,
6
]
}
|
High-risk individuals were defined as carrying germline mutations in BRCA1, BRCA2, p53 (Li-Fraumeni), STK11 (Peutz-Jeghers), MSH2 (Lynch), ATM (ataxia-telangiectasia), or APC (familial adenomatous polyposis).
|
genomic_alterations
|
{
"id": 4436,
"name": "MSH2",
"pos": [
125,
4
]
}
|
{
"id": "C0032580",
"name": "Adenomatous Polyposis Coli",
"pos": [
176,
30
]
}
|
DC-FISH defined BCL2/IgH fusion signals at 1p36 in addition to t(14;18), suggesting that BCL2/IgH fusion at 1p36 was an evolutionary alteration following the primary BCL2/IgH translocation on der(18) in both cases.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
3,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
175,
13
]
}
|
Using a linear regression model (including age, height, weight, smoking, and calcium intake as covariates), significant interactions between the COMT genotype and PA were seen for aBMD at all sites and for trabecular vBMD in both the radius and the tibia.
|
NA
|
{
"id": 1312,
"name": "COMT",
"pos": [
145,
4
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
64,
7
]
}
|
Our findings were: (1) Serum levels of OPG were raised in patients with unstable angina (n=40), but not in those with stable angina (n=40), comparing controls (n=20); (2) mRNA levels of RANKL were increased in T-cells in unstable angina patients accompanied by increased expression of RANK in monocytes; (3) strong immunostaining of OPG/RANKL/RANK was seen within thrombus material obtained at the site of plaque rupture during acute myocardial infarction; (4) OPG/RANKL/RANK was expressed in the atherosclerotic plaques of apoE(-/-) mice, with RANKL located specifically to the plaques; and (5) RANKL enhanced the release of monocyte chemoattractant peptide-1 in mononuclear cells from unstable angina patients, and promoted matrix metalloproteinase (MMP) activity in vascular smooth muscle cells.
|
NA
|
{
"id": 8600,
"name": "TNFSF11",
"pos": [
596,
5
]
}
|
{
"id": "C0002965",
"name": "Angina, Unstable",
"pos": [
687,
15
]
}
|
The data showed that the prevalence of DR3 was significantly higher in patients who developed gold induced thrombocytopenia or proteinuria than in normal controls or patients with RA without these side effects.
|
NA
|
{
"id": 8718,
"name": "TNFRSF25",
"pos": [
39,
3
]
}
|
{
"id": "C0033687",
"name": "Proteinuria",
"pos": [
127,
11
]
}
|
Altered dorsal root ganglion (DRG) function is associated with neuropathic pain following spinal nerve injury.
|
NA
|
{
"id": 4733,
"name": "DRG1",
"pos": [
30,
3
]
}
|
{
"id": "C0027796",
"name": "Neuralgia",
"pos": [
63,
16
]
}
|
The current mouse mammary and human breast tumor classifications describe the majority of GEM lesions but unique morphologic lesions are found in many GEM.
|
NA
|
{
"id": 2669,
"name": "GEM",
"pos": [
151,
3
]
}
|
{
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
36,
12
]
}
|
A recent study suggested a link between folate metabolism and atopy, based on a positive association between a common polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene and allergic sensitization in Danish adults.
|
NA
|
{
"id": 4524,
"name": "MTHFR",
"pos": [
175,
5
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
62,
5
]
}
|
Molecular Testing in EBUS-TBNA Specimens of Lung Adenocarcinoma: A Study of Concordance Between Cell Block Method and Liquid-Based Cytology in Appraising Sample Cellularity and EGFR Mutations.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
177,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
41,
22
]
}
|
In a case-control study we found ten (12.8%) carriers of factor V Leiden and two (2.5%) carriers of the PT20210A mutation among 78 patients with a history of moderate-severe bleeding while on OAT, and seven (4.4%) and four (2.5%), respectively, among 156 matched patients with no bleeding while on OAT (odds ratio 3.1+/-1.6, p=0.026).
|
NA
|
{
"id": 4942,
"name": "OAT",
"pos": [
298,
3
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
280,
8
]
}
|
Moreover, pre-existing (hazard ratio = 1.91; P <0.001) and new onset diabetes (hazard ratio = 2.34; P <0.0001) were significantly associated with new onset proteinuria among SRL users.
|
genomic_alterations
|
{
"id": 6345,
"name": "SRL",
"pos": [
180,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
72,
8
]
}
|
The present study proved that smoking, metabolic syndrome, ApoB X(+)X(+) genotype and ApoE E4 allele were independent risk factors for the development of PCAD.
|
NA
|
{
"id": 1001,
"name": "CDH3",
"pos": [
154,
4
]
}
|
{
"id": "C0524620",
"name": "Metabolic Syndrome X",
"pos": [
39,
18
]
}
|
In this study, we investigated the p53 mutations of esophageal carcinomas and their correlation with clinicopathologic factors.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
35,
3
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
52,
10
]
}
|
Four weeks after ligation of the left anterior descending coronary artery, 125 microg of a complementary DNA plasmid encoding the gene for either hepatocyte growth factor (n = 8) or LacZ (transfection control group, n = 8) was injected directly into the myocardium at the border between the normal tissue and the infarction.
|
NA
|
{
"id": 3082,
"name": "HGF",
"pos": [
146,
24
]
}
|
{
"id": "C0021308",
"name": "Infarction",
"pos": [
313,
10
]
}
|
The incubation of breast tumor cells with SEMA3A increased alpha2 and beta1 integrin levels, and stimulated tumor cell adhesion to the alpha2beta1-binding matrix protein collagen I. Conversely, reducing SEMA3A expression in breast tumor cells decreased alpha2beta1 levels and collagen adhesion.
|
NA
|
{
"id": 10371,
"name": "SEMA3A",
"pos": [
203,
6
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
285,
8
]
}
|
The recombinant adenovirus expressing human AQP1 increased the mRNA and protein expression of AQP1 in HT20 cells.
|
NA
|
{
"id": 358,
"name": "AQP1",
"pos": [
94,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
16,
10
]
}
|
MKK4 expression was present in 24 intestinal metaplasia lesions (89%) and 12 gastric epithelial dysplasia lesions (100%), but in only 6 normal stomach samples (8%).
|
NA
|
{
"id": 6416,
"name": "MAP2K4",
"pos": [
0,
4
]
}
|
{
"id": "C0878500",
"name": "Intraepithelial Neoplasia",
"pos": [
85,
20
]
}
|
TDP-43 type A pathology was associated with substantial individual variation; however, within this group progranulin mutations were associated with strongly asymmetric, distributed hemispheric atrophy.
|
NA
|
{
"id": 23435,
"name": "TARDBP",
"pos": [
0,
6
]
}
|
{
"id": "C0333641",
"name": "Atrophic",
"pos": [
193,
7
]
}
|
Recent studies also demonstrated the potential roles of SXR in the regulation of apoptosis and inflammation in various carcinoma cells, but the status of SXR in human esophageal squamous cell carcinoma (ESCC) has not been examined.
|
NA
|
{
"id": 8856,
"name": "NR1I2",
"pos": [
154,
3
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
95,
12
]
}
|
This study aimed to quantify and compare conjunctival epithelial tumor necrosis factor (NF) α mRNA expression in Sjögren syndrome (SS), non-Sjögren syndrome aqueous-deficient dry eye (non-SS DE), and non-dry eye (NDE) control subjects.
|
NA
|
{
"id": 54820,
"name": "NDE1",
"pos": [
213,
3
]
}
|
{
"id": "C1368683",
"name": "Epithelioma",
"pos": [
54,
16
]
}
|
Analysis of 6 HGL cases indicates that CD155 is expressed in these tumors and in primary cell lines derived from these tumors.
|
NA
|
{
"id": 8513,
"name": "LIPF",
"pos": [
14,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
119,
6
]
}
|
Here we establish an S100A4-dependent link between inflammation and metastatic tumor progression.
|
NA
|
{
"id": 6275,
"name": "S100A4",
"pos": [
21,
6
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
51,
12
]
}
|
In keeping with these conclusions, we show that hTRA2-beta1 can specifically bind a 'GAAG' motif in Cyr61 exon 3 RNA, that the splicing factor displays acidosis-dependent protein localization in cellular compartments, and shRNA-mediated hTRA2-beta1 knock-down triggers the same effects on Cyr61 alternative splicing like acidosis or hypoxia.
|
NA
|
{
"id": 27429,
"name": "HTRA2",
"pos": [
237,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
333,
7
]
}
|
We therefore investigated whether the LDLR locus interacted with the apolipoprotein E gene genotype on coronary heart disease risk in patients clinically diagnosed with familial hypercholesterolemia with and without LDLR mutation.
|
genomic_alterations
|
{
"id": 348,
"name": "APOE",
"pos": [
69,
16
]
}
|
{
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
103,
22
]
}
|
Therefore, the present study was undertaken to explore whether EGF is able to modulate the expression of Wnt-1-induced signaling protein-2/connective tissue growth factor/cysteine-rich 61/nephroblastoma overexpressed 5 (WISP-2/CCN5), an estrogen-responsive gene, in normal and transformed cell lines of the human breast and, if so, whether this induction is critical for EGF mitogenesis and what downstream signaling pathways are associated with this event.
|
NA
|
{
"id": 1950,
"name": "EGF",
"pos": [
371,
3
]
}
|
{
"id": "C0027708",
"name": "Nephroblastoma",
"pos": [
188,
14
]
}
|
Role of extracellular superoxide dismutase in hypertension.
|
therapeutic
|
{
"id": 6649,
"name": "SOD3",
"pos": [
22,
22
]
}
|
{
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
46,
12
]
}
|
PKR transgenic but not PKR null mice demonstrate a mutator phenotype characterized by radiation-induced and age-associated genomic instability that was partially reversed by short-term pharmacologic PKR inhibition.
|
NA
|
{
"id": 5610,
"name": "EIF2AK2",
"pos": [
199,
3
]
}
|
{
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
123,
19
]
}
|
The PTPN22 R620W polymorphism is associated with severe bacterial infections after human leukocyte antigen geno-identical haematopoietic stem-cell transplantations.
|
genomic_alterations
|
{
"id": 26191,
"name": "PTPN22",
"pos": [
4,
6
]
}
|
{
"id": "C0004623",
"name": "Bacterial Infections",
"pos": [
56,
20
]
}
|
The two groups were compared in terms of the C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), fibrinogen, adiponectin, chemerin, and vaspin.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
65,
3
]
}
|
{
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
71,
30
]
}
|
Targeting fatty acid amide hydrolase (FAAH) to treat pain and inflammation.
|
NA
|
{
"id": 2166,
"name": "FAAH",
"pos": [
38,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
62,
12
]
}
|
Differential regulation of PHEX expression in bone and parathyroid gland by chronic renal insufficiency and 1,25-dihydroxyvitamin D3.
|
NA
|
{
"id": 5251,
"name": "PHEX",
"pos": [
27,
4
]
}
|
{
"id": "C0403447",
"name": "Chronic Kidney Insufficiency",
"pos": [
76,
27
]
}
|
At 6-7 years of age, the comparison of various factors was made between 31 LGA and 34 appropriate-for-gestational-age (AGA) children: fibrinogen, antithrombin III, protein C and S, fasting insulin, glucose, homeostasis assessment model of insulin resistance (HOMA-IR) index, adiponectin, leptin, visfatin, IGF-1, IGF-binding protein (IGFBP)-1, IGFBP-3, lipids, and the genetic factors V Leiden G1691A mutation, prothrombin 20210A/G polymorphism, and mutation in the enzyme 5,10-methylenetetrahydrofolate-reductase gene (MTHFR-C677T).
|
NA
|
{
"id": 5624,
"name": "PROC",
"pos": [
164,
9
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
239,
18
]
}
|
These results demonstrate that ADAM17-mediated TNF-α signaling from IECs has a significant role in the development of the proinflammatory state and mucosal atrophy observed in TPN-treated mice.
|
biomarker
|
{
"id": 6868,
"name": "ADAM17",
"pos": [
31,
6
]
}
|
{
"id": "C2242595",
"name": "Mucosal atrophy",
"pos": [
148,
15
]
}
|
Genetic origin of α<sup>0</sup>-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart's hydrops fetalis syndrome.
|
genomic_alterations
|
{
"id": 6395,
"name": "SEA",
"pos": [
57,
3
]
}
|
{
"id": "C0039730",
"name": "Thalassemia",
"pos": [
44,
11
]
}
|
Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end processing in the human alpha 2 globin gene.
|
genomic_alterations
|
{
"id": 3039,
"name": "HBA1",
"pos": [
138,
14
]
}
|
{
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
0,
18
]
}
|
Induction of body weight loss through RNAi-knockdown of APOBEC1 gene expression in transgenic rabbits.
|
NA
|
{
"id": 339,
"name": "APOBEC1",
"pos": [
56,
12
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
13,
11
]
}
|
TPA or RA did not affect cell proliferation, cell-matrix protein adhesion, and matrix metalloproteinases and urokinase plasminogen activator activities.
|
NA
|
{
"id": 5327,
"name": "PLAT",
"pos": [
0,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
65,
8
]
}
|
The CYP3A7, PXR and CAR SNVs were screened and the 21OHD genotypes were classified according to their severity: severe and moderate groups.
|
genomic_alterations
|
{
"id": 846,
"name": "CASR",
"pos": [
20,
3
]
}
|
{
"id": "C0268287",
"name": "Deficiency of steroid 21-monooxygenase",
"pos": [
51,
5
]
}
|
Additionally, we report our results of the expression of p53 by immunohistochemistry in a group of 18 patients that have undergone endoscopic esophageal mucosal resection for dysplasia.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
57,
3
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
142,
10
]
}
|
T helper type 9 (Th9) cells are a novel identified subset of CD4(+) T helper cells, which could partly contribute to allergic inflammation, while the precise contribution of Th9 cells in atopic dermatitis (AD) remains unknown.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
61,
3
]
}
|
{
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
187,
17
]
}
|
Recently, the matrix metalloproteinases (MMPs) have been implicated in the formation of these cataracts through their involvement in EMT.
|
NA
|
{
"id": 3702,
"name": "ITK",
"pos": [
133,
3
]
}
|
{
"id": "C0086543",
"name": "Cataract",
"pos": [
94,
9
]
}
|
In this study, we examined the expression of p73, p21 and MDM2 proteins immunohistochemically and analyzed the relationship among these three proteins in sixty surgical specimens of gliomas including 10 glioblastomas, 10 anaplastic astrocytomas, 6 diffuse astrocytomas, 8 pilocytic astrocytomas, 1 anaplastic ependymoma, 8 ependymomas, 9 anaplastic oligodendroglial tumors and 8 low grade oligodendroglial tumors.
|
NA
|
{
"id": 7161,
"name": "TP73",
"pos": [
45,
3
]
}
|
{
"id": "C0280788",
"name": "Anaplastic Ependymoma",
"pos": [
298,
21
]
}
|
Assessment of HER2 status for prognosis and treatment of breast cancer patients can be performed by immunohistochemistry and/or fluorescence in situ hybridization (FISH).
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
164,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
57,
13
]
}
|
Protein-protein interaction analysis using bioinformatics tools indicated that SARS_NP may bind to human cyclophilin A (hCypA), and surface plasmon resonance (SPR) technology revealed this binding with the equilibrium dissociation constant ranging from 6 to 160nM.
|
NA
|
{
"id": 6697,
"name": "SPR",
"pos": [
159,
3
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
218,
12
]
}
|
There were no differences in clinical parameters (age, baseline eGFR, blood pressure, body mass index, progression) between patients with or without HNF1B and PAX2 mutations.
|
NA
|
{
"id": 5076,
"name": "PAX2",
"pos": [
159,
4
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
86,
15
]
}
|
Here, we present an analysis of four published data sets for vector-borne microparasite infections where strains or genotypes have been distinguished: serotypes of African horse sickness (AHS) in zebra; types of Nannomonas trypanosomes in tsetse flies; parasite-induced erythrocyte surface antigen (PIESA) based isolates of Plasmodium falciparum malaria in humans, and the merozoite surface protein 2 gene (MSP-2) alleles of P. falciparum in humans and in anopheline mosquitoes.
|
biomarker
|
{
"id": 84000,
"name": "TMPRSS13",
"pos": [
407,
3
]
}
|
{
"id": "C0024535",
"name": "Malaria, Falciparum",
"pos": [
324,
29
]
}
|
The frequency of EGFR mutations was positively correlated with acinar predominant tumors (P = 0.002).
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
17,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
82,
6
]
}
|
Seventeen genes (ABL, APC, APAF1, BRCA1, CSPG2, DAPK1, hMLH1, LKB1, PTEN, p14ARF, p15INK4b, p27KIP1, p57KIP2, RASSF1C, RB1, SURVIVIN, and VHL) displayed a uniformly unmethylated pattern in all the astrocytoma and non-astrocytoma tissues examined.
|
NA
|
{
"id": 317,
"name": "APAF1",
"pos": [
27,
5
]
}
|
{
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
217,
11
]
}
|
We show that loss of Smad4 causes stunted growth, spontaneous fractures and a combination of features seen in osteogenesis imperfecta, cleidocranial dysplasia and Wnt-deficiency syndromes.
|
NA
|
{
"id": 4089,
"name": "SMAD4",
"pos": [
21,
5
]
}
|
{
"id": "C0008928",
"name": "Cleidocranial Dysplasia",
"pos": [
135,
23
]
}
|
RPL5 was located at a significant peak of heterozygous deletion or mutated in 11% of glioblastoma, 28% of melanoma and 34% of breast cancer samples.
|
genomic_alterations
|
{
"id": 6125,
"name": "RPL5",
"pos": [
0,
4
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
106,
8
]
}
|
AAK1 or GAK depletion impaired epidermal growth factor (EGF)-mediated enhanced HCV entry and endocytosis of EGF receptor (EGFR), an HCV entry cofactor and erlotinib's cancer target.
|
biomarker
|
{
"id": 22848,
"name": "AAK1",
"pos": [
0,
4
]
}
|
{
"id": "C0019196",
"name": "Hepatitis C",
"pos": [
132,
3
]
}
|
Indo-TT participants with ALDH1A1*2 also reported significantly higher levels of current alcohol consumption (p < .05).
|
NA
|
{
"id": 216,
"name": "ALDH1A1",
"pos": [
26,
7
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
89,
19
]
}
|
Laboratory studies show persistent normocytic normochromic anemia, thrombocytosis, elevated erythrocyte sedimentation rate and C-reactive protein.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
127,
18
]
}
|
{
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
92,
30
]
}
|
The positivity rates for c-MET (66.12%, 80 cases/121 cases), p-MET (59.50%, 72 cases/121 cases), e2f-1 (38.84%, 47 cases/121 cases) and Ki-67 (72.73%, 88 cases/121 cases) in primary lesion of GC was significantly higher than that in non-cancerous tissue at 5 cm places far from the margin of primary lesion (P < 0.05, respectively).
|
NA
|
{
"id": 4233,
"name": "MET",
"pos": [
63,
3
]
}
|
{
"id": "C1402294",
"name": "Primary Lesion",
"pos": [
292,
14
]
}
|
Therefore, the combination of DPA and miR-21 or miR-24 appears to be a better biomarker for discriminating MPE from benign pleural effusion.
|
biomarker
|
{
"id": 406991,
"name": "MIR21",
"pos": [
38,
6
]
}
|
{
"id": "C1851585",
"name": "MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA",
"pos": [
107,
3
]
}
|
Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
34,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
83,
6
]
}
|
OP patients presented a higher serum level of miRNA-217 and lower serum levels of circ-VANGL1 and RUNX2 relative to non-OP patients.
|
genomic_alterations
|
{
"id": 860,
"name": "RUNX2",
"pos": [
98,
5
]
}
|
{
"id": "C0029456",
"name": "Osteoporosis",
"pos": [
120,
2
]
}
|
Nominal associations were found between rs3731859 and body mass index, waist circumference, fasting GLP-1 levels, and intramyocellular lipids in the soleus muscle (P = .02, P = .02, P = .05, and P = .03, respectively).
|
NA
|
{
"id": 2641,
"name": "GCG",
"pos": [
100,
5
]
}
|
{
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
71,
19
]
}
|
We report a case of recurrent oligohydramnios in a mother with an ErbB4 mutation and speculate that the effects on the placenta through decreased vascularization contributed to oligohdyramnios and subsequent pulmonary hypoplasia in the newborn.
|
genomic_alterations
|
{
"id": 2066,
"name": "ERBB4",
"pos": [
66,
5
]
}
|
{
"id": "C0265783",
"name": "Congenital hypoplasia of lung",
"pos": [
208,
20
]
}
|
We also found that sPD-1, codelivered with adenovirus-based vaccine, could increase antigen-specific CD8(+) T-cell responses, indicating vaccine type-independent adjuvant effect of sPD-1.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
101,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
43,
10
]
}
|
To identify molecular markers of tumor hypoxia and potential therapeutic targets in glioblastoma (GBM), we investigated the hypoxia-related expression of osteopontin (OPN), carbonic anhydrase 9 (CA9), erythropoietin (EPO), vascular endothelial growth factor (VEGF) and hypoxia-inducible factor-1alpha (HIF-1alpha) in vitro in human GBM cell lines and in vivo in human tumor samples of GBM, compared to low-grade astrocytoma (LGA).
|
NA
|
{
"id": 6696,
"name": "SPP1",
"pos": [
167,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
124,
7
]
}
|
The prognostic impact of mutations in the CCAAT/enhancer binding protein α (CEBPA) gene was evaluated in the context of concomitant molecular mutations and cytogenetic aberrations in acute myeloid leukemia (AML).
|
NA
|
{
"id": 1050,
"name": "CEBPA",
"pos": [
76,
5
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
156,
23
]
}
|
The CUBN CC or C-risk-allele of rs1801239 was associated with ESRD (OR 2.04 [1.07-3.87], p = 0.03) and peripheral artery disease (OR 2.08 [1.12-3.88], p = 0.021).
|
genomic_alterations
|
{
"id": 8029,
"name": "CUBN",
"pos": [
4,
4
]
}
|
{
"id": "C4025272",
"name": "Peripheral arterial stenosis",
"pos": [
103,
25
]
}
|
Tumor necrosis factor alpha (TNF alpha) is thought to be a critical mediator of malaria fever, and mild malaria was previously reported to be linked to the MHC region containing the tumor necrosis factor alpha gene (TNF).
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
216,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
99,
4
]
}
|
Of the 9 polymorphisms screened, we identified GST, GSTM1 and CYP1A1 C4887A, may be of importance to disease process and may be associated with papillary thyroid cancer risk in Saudi Arabian population.
|
genomic_alterations
|
{
"id": 1543,
"name": "CYP1A1",
"pos": [
62,
6
]
}
|
{
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
144,
24
]
}
|
These data may help design effective therapy targeting HCRP-1 pathway to control colon cancer growth and metastasis.
|
biomarker
|
{
"id": 137492,
"name": "VPS37A",
"pos": [
55,
6
]
}
|
{
"id": "C0007102",
"name": "Malignant tumor of colon",
"pos": [
81,
12
]
}
|
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