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Here we report that the mitochondrial chaperone Hsp40, also known as Dnaja3 or Tid1, is differentially expressed during cardiac development and pathological hypertrophy. | NA | {
"id": 3337,
"name": "DNAJB1",
"pos": [
48,
5
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
157,
11
]
} |
Serum alanine aminotransferase(ALT), aspartate aminotransferase(AST), fasting blood glucose(FBG), fasting insulin(FINS), HOMA-IR(homeostasis model assessment insulin resistance), Serum TNF-a and adiponectin were detected and analyzed.Western blot and RT-PCR were used to detect PPARr expression in hepatic tissues on protein and mRNA levels. | NA | {
"id": 2805,
"name": "GOT1",
"pos": [
64,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
158,
18
]
} |
To further elucidate the role of angiogenesis in the pathogenesis of chronic myelogenous leukemia (CML) we evaluated the effects of the bcr-abl translocation on the secretion of the angiogenic factors VEGF, FGF-2, HGF, IL-8 and matrix metalloproteinases (MMPs) as well as on the angiogenic potential in vivo of bcr-abl+ cells. | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
201,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
144,
13
]
} |
The specificity conferring alpha subunit of the CNTF complex (CNTFR alpha), is extremely well conserved across species, and has a distribution localized predominantly to the nervous system and skeletal muscle. | NA | {
"id": 1271,
"name": "CNTFR",
"pos": [
62,
5
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
174,
14
]
} |
IL12B 3' UTR and promoter polymorphisms have been reported to be correlated with IL-12 p40 production and have been suggested to be associated with TB (tuberculosis) susceptibility. | genomic_alterations | {
"id": 10969,
"name": "EBNA1BP2",
"pos": [
87,
3
]
} | {
"id": "C0041296",
"name": "Tuberculosis",
"pos": [
148,
16
]
} |
The distribution of one single nucleotide polymorphism (SNP) in the CACNA1E and one in the Camk2d gene was determined in Sprague-Dawley rats that were subjected to amygdala kindling or hyperthermia-induced seizures. | NA | {
"id": 817,
"name": "CAMK2D",
"pos": [
91,
11
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
206,
8
]
} |
Predisposing factors include CD56 expression and the chromosomal abnormality t(8;21). | NA | {
"id": 4684,
"name": "NCAM1",
"pos": [
29,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
53,
23
]
} |
Patients also underwent a study protocol including measurements of BMI, waist-to-hip ratio (WHR), resting energy expenditure (REE), energy intake, fat mass (FM) and free fat mass (FFM), total cholesterol (TCH), high density lipoprotein (HDL) cholesterol, triacylglyceroles (TG), leptin levels, basal glucose, immunoreactive insulin (IRI), glycated haemoglobin (HbA1c), insulin sensitivity and thyroid hormones. | NA | {
"id": 24,
"name": "ABCA4",
"pos": [
180,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
369,
19
]
} |
To investigate the possibility that specific growth factors and/or proto-oncogenes are expressed differentially, we measured mRNA levels of transforming growth factors beta 1 (TGF-beta 1), TGF-beta 2 and TGF-beta 3 and of the c-fos and c-jun oncogenes by Northern blotting in normal prostate, benign prostatic hyperplasia (BPH) and prostate cancer. | biomarker | {
"id": 7042,
"name": "TGFB2",
"pos": [
189,
10
]
} | {
"id": "C1704272",
"name": "Benign Prostatic Hyperplasia",
"pos": [
293,
28
]
} |
The findings support a model of psoriatic arthritis inflammation involving extensive and selective Ag, likely autoantigen, driven intra-articular CD4, and CD8 T cell clonal expansions. | NA | {
"id": 920,
"name": "CD4",
"pos": [
146,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
52,
12
]
} |
Substrate specificity was restricted to glycoproteins rich in O-linked glycans, including CD43, CD44, CD45, CD93, CD162 (PSGL-1; P-selectin glycoprotein ligand 1), and the surface-attached chemokine fractalkine, all implicated in leukocyte trafficking, migration, and inflammation. | NA | {
"id": 22918,
"name": "CD93",
"pos": [
108,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
268,
12
]
} |
Inhibition of EWSAT1 expression diminished the ability of Ewing sarcoma cell lines to proliferate and form colonies in soft agar, whereas EWSAT1 inhibition had no effect on other cell types tested. | NA | {
"id": 283673,
"name": "EWSAT1",
"pos": [
138,
6
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
64,
7
]
} |
Life-threatening episodes of coma and hypoglycemia induced by fasting are a common presenting feature in most of the fatty acid oxidation disorders (MCAD, LCAD, and HMG-CoA lyase deficiencies, the infantile form of CPT deficiency, the mild form of MAD deficiency, and in some cases of primary carnitine deficiency). | NA | {
"id": 56994,
"name": "CHPT1",
"pos": [
215,
3
]
} | {
"id": "C0009421",
"name": "Comatose",
"pos": [
29,
4
]
} |
In transgenic mouse models, overexpression of Sox2 leads to a significant reduction of Notch1 and Notch2 transcripts, while a 50% reduction in Sox2 leads to widespread papillary adenocarcinoma in the bronchioles. | NA | {
"id": 4851,
"name": "NOTCH1",
"pos": [
87,
6
]
} | {
"id": "C0001420",
"name": "Papillary adenocarcinoma",
"pos": [
168,
24
]
} |
We detected the VLDLR expression in 39 cases of hepatocellular carcinoma and in three kinds of hepatoma cell lines: HepG2, HBV transfected HepG2.2.15, SMMC-7721 and normal human fetal liver cell line LO2 using RT-PCR and western blotting. | NA | {
"id": 7436,
"name": "VLDLR",
"pos": [
16,
5
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
48,
24
]
} |
Tumor specimens from a subset of postmenopausal patients with hormone receptor-positive early-stage (stages I, II, and IIIA) breast cancer, who were enrolled in the randomized double-blind Arimidex, Tamoxifen, Alone or in Combination (ATAC) clinical trial, were genotyped for variants in CYP2D6 (N = 1203 patients: anastrozole [trade name: Arimidex] group, n = 615 patients; tamoxifen group, n = 588 patients) and UDP-glucuronosyltransferase-2B7 (UGT2B7), whose gene product inactivates endoxifen (N = 1209 patients; anastrozole group, n = 606 patients; tamoxifen group, n = 603 patients). | NA | {
"id": 1565,
"name": "CYP2D6",
"pos": [
288,
6
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
183,
5
]
} |
These findings suggest that the rs1805794G>C of NBS1 may be a functional genetic biomarker for lung cancer. | genomic_alterations | {
"id": 4683,
"name": "NBN",
"pos": [
51,
4
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
98,
11
]
} |
Retrospective audit of case records, laboratory CA125 results, radiology reports, histology records and local cancer registry data. | NA | {
"id": 94025,
"name": "MUC16",
"pos": [
48,
5
]
} | {
"id": "C0796563",
"name": "Localized Malignant Neoplasm",
"pos": [
104,
12
]
} |
Therefore, the present study identified two novel CYP11B2 gene mutations in a Chinese patient with ASD, indicating exome sequencing as an effective diagnostic tool for rare endocrine-metabolic diseases. | genomic_alterations | {
"id": 1585,
"name": "CYP11B2",
"pos": [
50,
7
]
} | {
"id": "C1862389",
"name": "ATRIAL SEPTAL DEFECT 1",
"pos": [
99,
3
]
} |
This rat model of hereditary RCC provides a useful tool for analyzing the series of events leading to renal tumorigenesis and for studying BHD gene functions. | NA | {
"id": 201163,
"name": "FLCN",
"pos": [
139,
8
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
108,
13
]
} |
Renal biopsy showed up to 60% of glomeruli featuring an enlargement of Bowman space (glomerular cysts), with mild interstitial fibrosis (alpha-smooth muscle actin [alphaSMA] positive), inflammatory infiltrate, and focal tubular atrophy at the cortical level. | NA | {
"id": 70,
"name": "ACTC1",
"pos": [
143,
19
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
109,
4
]
} |
This activity was discovered after TTP-deficient mice were created and found to have a systemic inflammatory syndrome with severe polyarticular arthritis and autoimmunity, as well as medullary and extramedullary myeloid hyperplasia. | biomarker | {
"id": 7538,
"name": "ZFP36",
"pos": [
35,
3
]
} | {
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
158,
12
]
} |
Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe "overlap" phenotype. | genomic_alterations | {
"id": 59341,
"name": "TRPV4",
"pos": [
163,
5
]
} | {
"id": "C0343284",
"name": "Chondrodysplasia",
"pos": [
192,
16
]
} |
Allyl isothiocyanate ameliorates lipid accumulation and inflammation in nonalcoholic fatty liver disease <i>via</i> the Sirt1/AMPK and NF-κB signaling pathways. | biomarker | {
"id": 5564,
"name": "PRKAB1",
"pos": [
138,
4
]
} | {
"id": "C0400966",
"name": "Non-alcoholic Fatty Liver Disease",
"pos": [
72,
32
]
} |
Expression of ED-B was observed in plaque areas in apolipoprotein E-deficient (apoE(-/-)) mice which increased with age and plaque load. | NA | {
"id": 348,
"name": "APOE",
"pos": [
51,
16
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
124,
6
]
} |
We identified a novel ductal compartment that is gathered in gland-like outpouches (pancreatic duct glands [PDG]) of major ducts and characterized its role in injury and metaplasia. | NA | {
"id": 26227,
"name": "PHGDH",
"pos": [
108,
3
]
} | {
"id": "C0025568",
"name": "Metaplasia",
"pos": [
170,
10
]
} |
A noteworthy example is treatment of TNBC and epithelial ovarian cancer harboring BRCA1/2 germline mutations using platinum salts and/or PARP inhibitors. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
82,
5
]
} | {
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
46,
25
]
} |
The data also identified a myriad of JAK2 rearrangements, including a novel JAK2-NF-E2 interaction, JAK2 translocation to chromosomes 3, 4, 12, 14, and 21 and detection of the previously described rare TEL/ETV6-JAK2 translocation. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
206,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
216,
13
]
} |
Post-infectious IBS (PI-IBS) and inflammatory bowel disease-associated IBS (IBD-IBS) represent a considerable subset of IBS cases. | genomic_alterations | {
"id": 27034,
"name": "ACAD8",
"pos": [
76,
3
]
} | {
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
33,
26
]
} |
An increased risk of death was associated with contrast-enhancement ≥ 5 cm3 in patients with IDH1-R132H-positive tumours while edema ≥ 1 cm beyond the tumour margin and < 5 mitoses/mm2 were associated with an increased risk of death in patients with IDH1-R132H-negative tumours. | NA | {
"id": 10687,
"name": "PNMA2",
"pos": [
181,
3
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
127,
5
]
} |
Using the dexamethasone/corticotrophin-releasing hormone (DEX/CRH) test, we investigated the association of alpha(2)-adrenoceptor (ADRA2A -1291C-->G) and the beta(2)-adrenoceptor gene (ADRB2 Arg16Gly) in 189 patients with major depression during the acute state of the disease and after remission. | NA | {
"id": 154,
"name": "ADRB2",
"pos": [
185,
5
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
222,
16
]
} |
Since genetic factors likely contribute to the biological vulnerability to bulimia nervosa (BN) and binge eating disorder (BED), we investigated whether the functional 196G/A single nucleotide polymorphism (SNP) of the BDNF gene was associated to BN and/or BED or to some phenotypic aspects of the disordered eating. | NA | {
"id": 627,
"name": "BDNF",
"pos": [
219,
9
]
} | {
"id": "C0596170",
"name": "Binge eating disorder",
"pos": [
100,
21
]
} |
Linkage of a gene causing classic dystonia in a large non-Jewish kindred (DYT1) and in a group of Ashkenazi Jewish families, to the gelsolin (GSN) and arginino-succinate synthetase (ASS) loci on chromosome 9q32-34, respectively, was recently determined. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
74,
4
]
} | {
"id": "C0013421",
"name": "Dystonia",
"pos": [
34,
8
]
} |
The expressions of RAB21, RAB23, RAB18 and RAB3B were suppressed by transfection of miR-200b in breast cancer cells. | NA | {
"id": 5865,
"name": "RAB3B",
"pos": [
43,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
96,
13
]
} |
The results in FSS were compared with those in groups of children of normal height (NHC) (42 NHC, 35 boys and 7 girls, age 12.0+/-0.5 yr, pubertal stages I-III, height between -1.3 and 1.4 SDS, height velocity standard deviation score (HVSDS)>25 degrees centile, GH peak >20 microg/l after GHRH+ARG test, mean GH concentration [mGHc]>3 microg/l) and children with organic GH deficiency (GHD) (38 GHD, 29 boys and 9 girls, age 11.2+/-3.7 yr, pubertal stages I-III, height between -5.7 and -1.3 SDS, GH peak <20 microg/l after GHRH +ARG test, mGHc <3 mg/l). | NA | {
"id": 2691,
"name": "GHRH",
"pos": [
525,
4
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
464,
6
]
} |
In the context of astrocytomas, Trk receptors (TrkA, TrkB, TrkC) expression may promote tumor growth independently of grade. | NA | {
"id": 4916,
"name": "NTRK3",
"pos": [
59,
4
]
} | {
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
18,
12
]
} |
The role of FBXO2 in the process of tumorigenesis, including gastric cancer, is still unknown. | biomarker | {
"id": 26232,
"name": "FBXO2",
"pos": [
12,
5
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
36,
13
]
} |
The aim of our case-control study was to investigate whether some of 22 single nucleotide polymorphisms (SNPs) in 13 cytokine genes (IL-1alpha, IL-1beta, IL-1RI, IL-1Ra, IL-4Ralpha, IL-12, IFN-gamma, TGF-beta1, TNF-alpha, IL-2, IL-4, IL-6 and IL-10) are associated with pemphigus vulgaris in the Slovak population. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
189,
3
]
} | {
"id": "C0030809",
"name": "Pemphigus Vulgaris",
"pos": [
270,
18
]
} |
Molecular basis for the reduced catalytic activity of the naturally occurring T560M mutant of human 12/15-lipoxygenase that has been implicated in coronary artery disease. | genomic_alterations | {
"id": 246,
"name": "ALOX15",
"pos": [
100,
18
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
147,
23
]
} |
Therefore, extrahepatic expression of HGFA in the colorectal carcinoma cells could be responsible for the single-chain HGF/SF-processing activity of the cells. | NA | {
"id": 3083,
"name": "HGFAC",
"pos": [
38,
4
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
50,
20
]
} |
Statistical analysis showed that the TM6SF2 gene polymorphism was significantly associated with liver cancer in the allele contrast, dominant, recessive and over dominant models (T vs C, OR = 1.621, 95%CI 1.379-1.905; CT + TT vs CC. | genomic_alterations | {
"id": 53345,
"name": "TM6SF2",
"pos": [
37,
6
]
} | {
"id": "C0279000",
"name": "Liver and Intrahepatic Biliary Tract Carcinoma",
"pos": [
96,
12
]
} |
Clinical healing of antimony-resistant cutaneous or mucocutaneous leishmaniasis following the combined administration of interferon-gamma and pentavalent antimonial compounds. | therapeutic | {
"id": 3458,
"name": "IFNG",
"pos": [
121,
17
]
} | {
"id": "C0086541",
"name": "Urban cutaneous leishmaniasis",
"pos": [
52,
27
]
} |
Genetically predetermined regulation of the Fas/Fas ligand system appears to play an important role in the pathogenesis of the preterm premature rupture of membranes. | NA | {
"id": 356,
"name": "FASLG",
"pos": [
48,
10
]
} | {
"id": "C0729264",
"name": "Preterm premature rupture of membranes (disorder)",
"pos": [
127,
38
]
} |
VDBP also mediates bone resorption by activating osteoclasts. | NA | {
"id": 2638,
"name": "GC",
"pos": [
0,
4
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
19,
15
]
} |
To assess ARID1A-encoded protein (BAF250a) and phosphorylated AKT (pAKT) expression, apoptosis, and the DNA damage response pathway in endometrioid and clear cell ovarian cancers (endometriosis-associated ovarian cancers [EAOCs]), and benign endometriotic ovarian cysts. | NA | {
"id": 8289,
"name": "ARID1A",
"pos": [
34,
7
]
} | {
"id": "C0029927",
"name": "Ovarian Cysts",
"pos": [
256,
13
]
} |
Wild-type and TNF(-/-) mice subjected to cardiac pressure overload revealed that TNF deficiency resulted in reduced superoxide levels, collagenase activities, PI3K activity, and fibrosis leading to attenuated cardiac dilation and dysfunction. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
81,
3
]
} | {
"id": "C0012359",
"name": "Pathological Dilatation",
"pos": [
217,
8
]
} |
The FTO gene modifies weight, fat mass and insulin sensitivity in women with polycystic ovary syndrome, where its role may be larger than in other phenotypes. | NA | {
"id": 79068,
"name": "FTO",
"pos": [
4,
8
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
43,
19
]
} |
This study demonstrated that the AT1R CC genotype is an independent risk factor for ACS incidence, and this genotype is associated with a greater ACS severity and greater risk of sudden cardiac death. | NA | {
"id": 185,
"name": "AGTR1",
"pos": [
33,
4
]
} | {
"id": "C0085298",
"name": "Sudden Cardiac Death",
"pos": [
179,
20
]
} |
Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387). | NA | {
"id": 207,
"name": "AKT1",
"pos": [
76,
3
]
} | {
"id": "C0020255",
"name": "Hydrocephalus",
"pos": [
147,
13
]
} |
(-)-GPCSO in culture medium induced only a mild reduction in Bcl-xL. | NA | {
"id": 598,
"name": "BCL2L1",
"pos": [
61,
6
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
43,
4
]
} |
These findings provide evidence that local IL-5-mediated eosinophilia is essential in the induction of esophageal remodeling. | NA | {
"id": 3567,
"name": "IL5",
"pos": [
43,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
103,
10
]
} |
Our findings indicate that GNPAT, SUMO1, SPINT2, FLI1, and SSX1 play critical roles in synergy with inflammation pathways in modulating melanoma cell survival and could serve as sensitizing targets to enhance CDDO-Me efficacy in melanoma growth control. | NA | {
"id": 2313,
"name": "FLI1",
"pos": [
49,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
100,
12
]
} |
Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene, responsible for Joubert (JBS2) and Meckel-Gruber (MKS2) syndromes, have been reported in two OFD VI patients. | genomic_alterations | {
"id": 51259,
"name": "TMEM216",
"pos": [
72,
7
]
} | {
"id": "C1864148",
"name": "MECKEL SYNDROME, TYPE 2",
"pos": [
136,
4
]
} |
Chronic TIN is associated with impaired Nrf2 activity which contributes to the pathogenesis of oxidative stress and inflammation and amplifies their damaging effects on the kidney. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
40,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
116,
12
]
} |
Significant (P < .05) decreases in mRNA expression of genes related to hyperplasia (K16 and MKI67), T cells, and dendritic cells (CD1b and CD1c) and potent inhibition of TH2-associated chemokines (CCL17, CCL18, CCL22, and CCL26) were noted without significant modulation of TH1-associated genes (IFNG). | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
274,
3
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
71,
11
]
} |
In situ hybridization analyses in mouse embryos between E9.5 and E14.5 revealed Zic3 expression in limb and prevertebral structures, and Foxf1 expression in esophageal, tracheal, vertebral, anal, and genital tubercle tissues, hence VATER/VACTERL organ systems. | NA | {
"id": 4863,
"name": "NPAT",
"pos": [
65,
3
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
157,
10
]
} |
The effect of ART1 on EMT and carcinoma metastasis was also verified in a liver metastasis model of BALB/c mice. | biomarker | {
"id": 417,
"name": "ART1",
"pos": [
14,
4
]
} | {
"id": "C0494165",
"name": "Secondary malignant neoplasm of liver",
"pos": [
74,
16
]
} |
The order in which JAK2 and TET2 mutations were acquired influenced clinical features, the response to targeted therapy, the biology of stem and progenitor cells, and clonal evolution in patients with myeloproliferative neoplasms. | genomic_alterations | {
"id": 54790,
"name": "TET2",
"pos": [
28,
4
]
} | {
"id": "C0027022",
"name": "Myeloproliferative disease",
"pos": [
201,
28
]
} |
H. pylori PPIase may represent a novel target for therapeutic management of gastric cancer patients. | NA | {
"id": 2280,
"name": "FKBP1A",
"pos": [
10,
6
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
76,
14
]
} |
Genetic variance of SGK-1 is associated with blood pressure, blood pressure change over time and strength of the insulin-diastolic blood pressure relationship. | NA | {
"id": 6446,
"name": "SGK1",
"pos": [
20,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
45,
14
]
} |
The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
71,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
49,
13
]
} |
ALS-linked mutations cause VAPB to form cytoplasmic aggregates. | genomic_alterations | {
"id": 9217,
"name": "VAPB",
"pos": [
27,
4
]
} | {
"id": "C0002736",
"name": "Amyotrophic Lateral Sclerosis",
"pos": [
0,
3
]
} |
An amplicon present in >70% of the tumor samples at 20q11-20q13 contained several cancer-related genes (AHCY, POFUT1, RPN2, TH1L, and PRPF6) that were upregulated and demonstrated a significant linear correlation (P < 0.05) for gene dosage and gene expression. | NA | {
"id": 5707,
"name": "PSMD1",
"pos": [
118,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
35,
5
]
} |
In contrast, the 4153delA was more common in prostate cancer cases (0.22%) than in controls (0.04%) (odds ratio=5.1; 95% confidence interval: 0.9-27.9; P=0.1). | NA | {
"id": 8519,
"name": "IFITM1",
"pos": [
144,
4
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
45,
15
]
} |
15-LOX-1 suppression of hypoxia-induced metastatic phenotype and HIF-1α expression in human colon cancer cells. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
65,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
24,
7
]
} |
Double label immunofluorescence, immunoelectron microscopy, and peroxidase immunohistochemistry were used to map the GLEPP1 distribution in the developing glomerulus and in minimal-change nephropathy (MCN), congenital nephrotic syndrome of the Finnish type, and focal-segmental glomerulosclerosis (FSGS). | NA | {
"id": 5800,
"name": "PTPRO",
"pos": [
117,
6
]
} | {
"id": "C3501848",
"name": "Nephrosis, congenital",
"pos": [
207,
29
]
} |
However, there are no prospective population-based studies of survival in patients with germline MMR gene mutations who develop cancer. | genomic_alterations | {
"id": 4360,
"name": "MRC1",
"pos": [
97,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
128,
6
]
} |
No BRAF, PI3KCA, or PTEN mutations were found in either group of MPNSTs, but 18% of the sporadic MPNSTs showed RAS mutations. | NA | {
"id": 673,
"name": "BRAF",
"pos": [
3,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
88,
8
]
} |
Homozygous deletions at chromosome 9p21 and mutation analysis of p16 and p15 in microdissected primary non-small cell lung cancers. | biomarker | {
"id": 10923,
"name": "SUB1",
"pos": [
73,
3
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
118,
12
]
} |
Alternatively spliced natural soluble isoforms of immunomodulatory receptors [cytotoxic T lymphocyte antigen-4 (CTLA-4), 4-1BB, and programmed death-1 (PD-1)/PD-L1] have been overlooked in favor of their cell-surface-bound counterparts that have generated blockbuster antibodies for the treatment of cancer. | biomarker | {
"id": 3604,
"name": "TNFRSF9",
"pos": [
121,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
300,
6
]
} |
Our previous research clarified two functional nonsynonymous single nucleotide polymorphisms (SNPs): rs12075 in DARC and rs2228468 in CCBP2 were significantly correlated with lymph node metastasis. | genomic_alterations | {
"id": 51554,
"name": "ACKR4",
"pos": [
134,
5
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
175,
21
]
} |
We analyzed for LINE-1 hypomethylation and hypermethylation at 7 CIMP-specific CpG islands (CACNA1G, CRABP1, IGF2, MLH1, NEUROG1, RUNX3 and SOCS1); microsatellite instability (MSI); KRAS, BRAF and PIK3CA mutations; and expression of TP53 (p53), CTNNB1 (β-catenin), CDKN1A (p21), CDKN1B (p27), CCND1 (cyclin D1), FASN (fatty acid synthase) and PTGS2 (cyclooxygenase-2). | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
109,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
148,
26
]
} |
This information provides a novel molecular target of Wnt/β-catenin for the protection of kidney damage and in delay of the progression of DN. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
58,
9
]
} | {
"id": "C1408258",
"name": "Kidney damage",
"pos": [
90,
13
]
} |
We show that cells defective in the N-methylpurine DNA glycosylase, which fail to remove N-methylpurines from DNA and do not initiate BER, display strongly reduced levels of methylation-induced DSBs and chromosomal aberrations compared with wild-type cells. | NA | {
"id": 4350,
"name": "MPG",
"pos": [
36,
30
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
203,
23
]
} |
Beta-carotene regulates NF-kappaB DNA-binding activity by a redox mechanism in human leukemia and colon adenocarcinoma cells. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
24,
9
]
} | {
"id": "C0338106",
"name": "Adenocarcinoma of colon",
"pos": [
98,
20
]
} |
Due to hyperinsulinemia and autophagy deficiency, a HFD could aggravate steatohepatitis in ptpro-/- mice. | NA | {
"id": 5800,
"name": "PTPRO",
"pos": [
91,
5
]
} | {
"id": "C0020459",
"name": "Hyperinsulinism",
"pos": [
7,
16
]
} |
Selective inhibition with a CX3CL1-specific blocking antibody indicated that adhesion was strongly CASMC CX3CL1-dependent. | NA | {
"id": 6376,
"name": "CX3CL1",
"pos": [
105,
6
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
77,
8
]
} |
Our previous study demonstrated that pharmacological inhibition of the Na(+)-K(+)-Cl(-) cotransporter isoform 1 (NKCC1) during ischemia and reperfusion attenuated neuronal damage and edema. | NA | {
"id": 6558,
"name": "SLC12A2",
"pos": [
113,
5
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
127,
8
]
} |
The polymorphism of PGM1 and Gc was studied by isoelectric focusing in pulmonary tuberculosis patients and controls. | NA | {
"id": 5236,
"name": "PGM1",
"pos": [
20,
4
]
} | {
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
71,
22
]
} |
In summary, we concluded that Kiss1r attenuation was sufficient to delay breast tumor initiation, progression, and metastasis through inhibitory effects on the downstream Gαq-p63RhoGEF-RhoA signaling pathway. | NA | {
"id": 84634,
"name": "KISS1R",
"pos": [
30,
6
]
} | {
"id": "C0598935",
"name": "Tumor Initiation",
"pos": [
80,
16
]
} |
Blockade of PI3K pathway by the pan-PI3K inhibitor BKM120 (buparlisib; Novartis Pharmaceutical Corporation) and the effect of PI3K inhibition on FL-FDC cross-talk were analyzed by means of ELISA, RT-PCR, human umbilical vein endothelial cell tube formation, adhesion and migration assays, Western blot, and in vivo studies in mouse FL xenografts. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
126,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
258,
8
]
} |
This finding opens the prospect of a male-specific therapeutic strategy targeting GPER1 for autophagy suppression in patients suffering from iron overload after hemorrhage. | biomarker | {
"id": 2852,
"name": "GPER1",
"pos": [
82,
5
]
} | {
"id": "C0282193",
"name": "Iron Overload",
"pos": [
141,
13
]
} |
We found that hypoxia induces ROS accumulation, up-regulates Prx1, increases NF-κB translocation and DNA binding activity, and down-regulates HO-1 in vitro. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
77,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
83,
13
]
} |
In order to analyze the associations between estrogen receptor gene alpha polymorphisms and cancers susceptibility, we genotyped six single nucleotide polymorphisms (SNPs) in 163 Caucasian cancer patients--103 breast cancers and 60 other malignancies (colorectal, bladder, hepatocellular carcinoma and acute myeloid leukemia)--and 114 healthy controls using hybridization probes. | genomic_alterations | {
"id": 2099,
"name": "ESR1",
"pos": [
45,
17
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
273,
24
]
} |
Since 86% (19 of 22) of DRw6+ patients contain the DQB1.3 allele (vs. 3% of controls), whereas 64% (14 of 22) contain the DRB1 allele 6B (vs. 6% of the controls), we conclude that most of the DRw6 susceptibility to PV can be accounted for by the DQ beta chain. | genomic_alterations | {
"id": 129831,
"name": "RBM45",
"pos": [
122,
4
]
} | {
"id": "C0030809",
"name": "Pemphigus Vulgaris",
"pos": [
215,
2
]
} |
We studied whether PPARβ/δ deficiency modifies the effects of high fructose intake (30% fructose in drinking water) on glucose tolerance and adipose tissue dysfunction, focusing on the CD36-dependent pathway that enhances adipose tissue inflammation and impairs insulin signaling. | NA | {
"id": 948,
"name": "CD36",
"pos": [
185,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
237,
12
]
} |
Our study suggested that both apoE epsilon3/epsilon4 genotype and epsilon4 carriers were risk factors for cerebral thrombosis in cortical artery region, whereas epsilon 2 carrier was a risk factor for hemorrhagic stroke in the elderly. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
30,
4
]
} | {
"id": "C0151945",
"name": "Thrombosis of cerebral veins",
"pos": [
106,
19
]
} |
Our functional analyses (knock-in and knock-down) demonstrated that miR-138 regulates the EMT via three distinct pathways: (i) direct targeting of VIM mRNA and controlling the expression of VIM at a post-transcriptional level, (ii) targeting the transcriptional repressors (ZEB2) which in turn regulating the transcription activity of the E-cad gene, and (iii) targeting the epigenetic regulator EZH2 which in turn modulates its gene silencing effects on the downstream genes including E-cad. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
90,
3
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
488,
3
]
} |
Metastatic inflammatory myofibroblastic tumor identified by EUS-FNA in mediastinal lymph nodes with ancillary FISH studies for ALK rearrangement. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
110,
4
]
} | {
"id": "C0334121",
"name": "Inflammatory Myofibroblastic Tumor",
"pos": [
11,
34
]
} |
We used quantitative realtime PCR to assess the expression of miRNAs from three different paralog clusters, miR-17-92, miR-106a-363, and miR-106b-25 in 24 cases of AIDS-NHLs representing four tumor types, Burkitt's lymphoma (BL, n = 6), diffuse large B-cell lymphoma (DLBCL, n = 8), primary central nervous system lymphoma (PCNSL, n = 5), and primary effusion lymphoma (PEL, n = 5). | NA | {
"id": 407975,
"name": "MIR17HG",
"pos": [
108,
9
]
} | {
"id": "C1292753",
"name": "Primary Effusion Lymphoma",
"pos": [
343,
25
]
} |
In this study, N-glycoproteins in eight cases of BAL fluid, as well as eight lung adenocarcinoma tissues and eight tumor-matched normal lung tissues, were analyzed using the solid-phase extraction of N-glycoprotein (SPEG), iTRAQ labeling, and liquid chromatography tandem mass spectrometry (LC-MS/MS). | NA | {
"id": 10290,
"name": "SPEG",
"pos": [
216,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
115,
5
]
} |
A combination of the null GSTM1 and I/V GSTP1 genotypes was found in 40.0% of patients with chronic nonobstructive bronchitis (chi 2 = 4.87; P = 0.03; OR = 4.03). | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
26,
5
]
} | {
"id": "C0006277",
"name": "Bronchitis",
"pos": [
115,
10
]
} |
Deregulation of the p14ARF/MDM2/p53 pathway is a prerequisite for human astrocytic gliomas with G1-S transition control gene abnormalities. | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
27,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
125,
13
]
} |
There was a marked cerebellar atrophy on MRI, and proliferation of abundant PAS-positive foamy macrophages in the rectal mucosa. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
41,
3
]
} | {
"id": "C0740279",
"name": "Cerebellar atrophy",
"pos": [
19,
18
]
} |
The podosome and invadopodium are dynamic cell-adhesion structures that degrade the extracellular matrix (ECM) and promote cell invasion. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
106,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
47,
8
]
} |
Recently, a single nucleotide polymorphism (rs2274223 A>G) in PLCE1 was reported as a novel susceptibility locus for esophageal and gastric cancers by genome-wide association studies performed in Chinese population. | NA | {
"id": 51196,
"name": "PLCE1",
"pos": [
62,
5
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
117,
10
]
} |
These results suggest that adenovirus-mediated DLC1 transfer, alone or together with other agents, such as inhibitors of Bcl-2 or histone deacetylase, might prove effective in the treatment of aggressive, AI-PCA. | biomarker | {
"id": 596,
"name": "BCL2",
"pos": [
121,
5
]
} | {
"id": "C0268398",
"name": "Familial lichen amyloidosis",
"pos": [
208,
3
]
} |
The mRNA expression of HIF-1α and MDR1 was detected in the four human colon carcinoma cell lines under both normoxia and hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
23,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
121,
7
]
} |
The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma. | NA | {
"id": 8091,
"name": "HMGA2",
"pos": [
28,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
150,
13
]
} |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. | genomic_alterations | {
"id": 773,
"name": "CACNA1A",
"pos": [
10,
7
]
} | {
"id": "C0029124",
"name": "Optic Atrophy",
"pos": [
114,
19
]
} |
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