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dict |
|---|---|---|---|
The L1 cell adhesion molecule (L1CAM) protein is found primarily in the nervous system and is important in neuronal adhesion, migration, neurite outgrowth, and myelination.
|
NA
|
{
"id": 3897,
"name": "L1CAM",
"pos": [
31,
5
]
}
|
{
"id": "C0422837",
"name": "Neurological observations",
"pos": [
72,
14
]
}
|
Detection of herpes simplex virus DNA by polymerase chain reaction in the cerebrospinal fluid of patients with viral meningoencephalitis using primers for the glycoprotein D gene.
|
NA
|
{
"id": 2532,
"name": "ACKR1",
"pos": [
159,
14
]
}
|
{
"id": "C1403880",
"name": "Viral meningoencephalitis",
"pos": [
111,
25
]
}
|
Reduced function of CYP2D6 was associated with an increased risk of rash of grade 2 or more (OR, 0.44; 95% confidence interval [CI], 0.21-0.94; *p = 0.03), but not diarrhea ≥ grade 2 (OR, 0.49; 95% CI, 0.17-1.51; *p = 0.20) or liver dysfunction ≥ grade 2 (OR, 1.08; 95% CI, 0.52-2.34; *p = 0.84) in the gefitinib cohort.
|
NA
|
{
"id": 1565,
"name": "CYP2D6",
"pos": [
20,
6
]
}
|
{
"id": "C0086565",
"name": "Liver Dysfunction",
"pos": [
227,
17
]
}
|
These results demonstrate that caffeine could improve HED-induced hepatic steatosis by promoting lipid metabolism via the cAMP/CREB/SIRT3/AMPK/ACC pathway.
|
NA
|
{
"id": 1385,
"name": "CREB1",
"pos": [
127,
4
]
}
|
{
"id": "C2711227",
"name": "Steatohepatitis",
"pos": [
66,
17
]
}
|
In this study we investigated whether FXR is expressed by cells of innate immunity and regulates inflammation in animal models of colitis.
|
NA
|
{
"id": 9971,
"name": "NR1H4",
"pos": [
38,
3
]
}
|
{
"id": "C0009319",
"name": "Colitis",
"pos": [
130,
7
]
}
|
There were no differences in CTA findings between patients with and without chest pain, but more females were symptomatic.
|
genomic_alterations
|
{
"id": 5130,
"name": "PCYT1A",
"pos": [
29,
3
]
}
|
{
"id": "C0008031",
"name": "Chest Pain",
"pos": [
76,
10
]
}
|
Intralesional therapy of metastatic spreading melanoma with beta-interferon.
|
therapeutic
|
{
"id": 3456,
"name": "IFNB1",
"pos": [
60,
15
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
46,
8
]
}
|
On the other hand, the COL1A1-PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis.
|
genomic_alterations
|
{
"id": 5155,
"name": "PDGFB",
"pos": [
30,
5
]
}
|
{
"id": "C0392784",
"name": "Dermatofibrosarcoma Protuberans",
"pos": [
76,
4
]
}
|
The diagnosis of CCS usually is easy but may be challenging in unusual sites, and the detection of EWS-ATF1 fusion transcripts is helpful to rule out a metastatic melanoma.
|
NA
|
{
"id": 2130,
"name": "EWSR1",
"pos": [
99,
3
]
}
|
{
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
152,
19
]
}
|
It was found that in cell extracts of both types of malignant tumors (basal-cell carcinoma and melanoma) Pol iota activity was observed in the presence of either Mn2+ or Mg2+.
|
NA
|
{
"id": 4589,
"name": "MUC7",
"pos": [
170,
3
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
81,
9
]
}
|
Melanocytic lesions, including Spitz nevi (SN), common benign nevi (CBN) and cutaneous metastatic melanoma (CMM), were analyzed for activating mutations in NRAS, HRAS and BRAF oncogenes, which induce cellular proliferation via the MAP kinase pathway.
|
NA
|
{
"id": 1243,
"name": "CMM",
"pos": [
108,
3
]
}
|
{
"id": "C0027960",
"name": "Nevus",
"pos": [
62,
4
]
}
|
Both a dominant negative mutant of JNK/SAPK (SAPKbeta K-->R) and a dominant negative mutant of the immediate upstream activator of JNK/SAPK, SEK1 (SEK1 K-->R), inhibited hypoxia-induced apoptosis in transient transfection studies.
|
NA
|
{
"id": 5601,
"name": "MAPK9",
"pos": [
135,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
170,
7
]
}
|
RABEX-5 has been studied in various solid tumors, but its role in combined small cell lung cancer (C-SCLC) remains unknown.
|
biomarker
|
{
"id": 27342,
"name": "RABGEF1",
"pos": [
0,
7
]
}
|
{
"id": "C0280100",
"name": "Solid Neoplasm",
"pos": [
36,
12
]
}
|
The chemotactic interaction between CCL21 and its receptor, CCR7, facilitates the progression of pancreatic cancer via induction of angiogenesis and lymphangiogenesis.
|
biomarker
|
{
"id": 1236,
"name": "CCR7",
"pos": [
60,
4
]
}
|
{
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
97,
17
]
}
|
Almost all CCPRCC-like tumors (82%) lacked the characteristic immunoprofile of sporadic CCPRCC (CK7, CAIX, CD10, AMACR), often showing diffuse CD10 labeling (64%), negative or focal CK7 reactivity (55%), or both (18%).
|
NA
|
{
"id": 4311,
"name": "MME",
"pos": [
143,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
79,
8
]
}
|
Our goals were to test (1) whether MAOA-LPR contributes to interindividual variation in monoamine activity, assessed using levels of cerebrospinal fluid (CSF) monoamine metabolites; and (2) whether MAOA-LPR genotype influences alcoholism and/or body mass index (BMI).
|
NA
|
{
"id": 4128,
"name": "MAOA",
"pos": [
198,
4
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
245,
15
]
}
|
Furthermore, GPx1 protein levels increased in human breast adenocarcinoma MCF7 cells exposed to β-estradiol and sodium selenite.In conclusion, our data provide evidence that SNPs in SEPP1 and GPX1 modulate risk of BC and that eGPx activity is modified by SNPs in SEPP1, GPX4 and GPX1 and by estrogens.
|
NA
|
{
"id": 2879,
"name": "GPX4",
"pos": [
270,
4
]
}
|
{
"id": "C0858252",
"name": "Breast adenocarcinoma",
"pos": [
52,
21
]
}
|
These results suggest a possible synergic interaction between IDE and APOE epsilon4 in the risk to develop late-onset sporadic AD.
|
NA
|
{
"id": 3416,
"name": "IDE",
"pos": [
62,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
118,
8
]
}
|
Results of tests for KLK3 or KLK2 mRNAs were positive (> or =80 mRNAs/mL blood) in 37 patients (49%) with CRPC but in only 15 patients (8%) with localized cancer.
|
biomarker
|
{
"id": 354,
"name": "KLK3",
"pos": [
21,
4
]
}
|
{
"id": "C1334407",
"name": "Localized Carcinoma",
"pos": [
148,
16
]
}
|
Homozygosity (41%) for the promoter variant of UGT1A1 (Gilbert syndrome) led to a significantly higher mean bilirubin level (126·54 µmol/l) with a higher frequency of cholelithiasis (30%) (P < 0·001).
|
genomic_alterations
|
{
"id": 54658,
"name": "UGT1A1",
"pos": [
47,
6
]
}
|
{
"id": "C0008350",
"name": "Cholelithiasis",
"pos": [
167,
14
]
}
|
The translocation t(10;11)(p13;q14) has been observed in acute lymphoblastic leukemia (ALL) as well as acute myeloid leukemia (AML).
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
27,
3
]
}
|
{
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
103,
22
]
}
|
Although this rearrangement involves 2 well-characterized transcription factors, TEL and AML1, the molecular pathways affected by the result of the translocation remain largely unknown.
|
NA
|
{
"id": 2120,
"name": "ETV6",
"pos": [
81,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
148,
13
]
}
|
Combined use of PI3K and MEK inhibitors synergistically inhibits lung cancer with EGFR and KRAS mutations.
|
genomic_alterations
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
16,
4
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
65,
11
]
}
|
FISH investigations revealed that the translocation was reciprocal, with the chromosome 22 breakpoint within the 22q subtelomeric cosmid 106G1220 and the chromosome 12q breakpoint near STS D12S317.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
0,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
38,
13
]
}
|
In CETPd the regression multivariate analysis (model A) showed that CETP was largely and negatively predicted by VLDL-C lipemia (R² = 92%) and much less by TG, LDL-C, ApoAI, phospholipids and non-HDL-C. CETP (model B) influenced mainly the increment in ApoB-100 containing lipoproteins (R² = 85% negatively) and phospholipids (R² = 13%), at the 6(th)h point.
|
NA
|
{
"id": 1071,
"name": "CETP",
"pos": [
203,
4
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
13,
10
]
}
|
We identified 1 novel EAAT1 mutation in a family with EA and studied the functional consequences of this mutation using glutamate uptake assay.
|
genomic_alterations
|
{
"id": 6507,
"name": "SLC1A3",
"pos": [
22,
5
]
}
|
{
"id": "C1720189",
"name": "Episodic Ataxia",
"pos": [
54,
2
]
}
|
Application of these signatures to breast tumor gene expression data identified two novel discrete phenotypes characterized by concordant, aberrant activation of either the HER2, IGF1R, and AKT pathways ("the survival phenotype") or the EGFR, KRAS (G12V), RAF1, and BAD pathways ("the growth phenotype").
|
genomic_alterations
|
{
"id": 3845,
"name": "KRAS",
"pos": [
243,
4
]
}
|
{
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
35,
12
]
}
|
We report a family with a missense mutation (c.151-1G>C) at the acceptor splice site of intron 1 of CDKN2A, resulting in loss of function of both tumour suppressor proteins p16(INK) (4) and p14(ARF) .
|
genomic_alterations
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
180,
7
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
149,
6
]
}
|
There was a significant interaction between the MGMT-84 marker and insulin resistance (P(interaction) = 0.046).
|
NA
|
{
"id": 4255,
"name": "MGMT",
"pos": [
48,
4
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
67,
18
]
}
|
This study shows the relevance of polymorphisms in APOB (odds ratio (OR), 1.17; 95% confidence interval (95% CI), 0.74-1.85), APOC3 (OR, 1.33; 95% CI, 0.82-2.17) and APOE (OR, 1.75; 95% CI, 1.09-2.80), as genetic risk markers for hypercholesterolemia; polymorphisms in ACE (OR, 1.68; 95% CI, 0.32-8.77) and AGT (OR, 1.74; 95% CI, 0.97-3.14) for hypertension; and in APOE*3/*4 (OR, 2.06; 95% CI, 1.70-2.51) and APOE*4/*4 (OR, 3.08; 95% CI, 1.85-5.12) as unambiguous markers of dementia.
|
genomic_alterations
|
{
"id": 1636,
"name": "ACE",
"pos": [
269,
3
]
}
|
{
"id": "C0020443",
"name": "Hypercholesterolemia",
"pos": [
230,
20
]
}
|
Heterozygous mutations in the transcription factor hepatocyte nuclear factor-1 alpha (HNF1A or TCF1 gene) result in early-onset diabetes as a result of pancreatic beta-cell dysfunction.
|
NA
|
{
"id": 6927,
"name": "HNF1A",
"pos": [
95,
4
]
}
|
{
"id": "C1969875",
"name": "Beta-cell dysfunction",
"pos": [
163,
21
]
}
|
These findings suggest that Siah1 plays important roles in the migration and invasion of human glioma cells under hypoxia, which may provide some guidance for the targeted therapy of human glioma based on the interference of the Siah1-PHD3-HIF-1α signaling pathway.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
240,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
114,
7
]
}
|
Polymorphism of GSTP1 IIe105Val might affect the clinical outcome in breast cancer patients.
|
genomic_alterations
|
{
"id": 2950,
"name": "GSTP1",
"pos": [
16,
5
]
}
|
{
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
69,
13
]
}
|
These findings suggest that TNFR1 not only contributes to neurodegeneration but also that it is involved in APP processing and Abeta plaque formation.
|
NA
|
{
"id": 7132,
"name": "TNFRSF1A",
"pos": [
28,
5
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
133,
6
]
}
|
We identified a signaling cascade initiated by adenosine A2B receptors that suppressed the prenylation of Rap1B through phosphorylation of Rap1B, which decreased its interaction with the chaperone protein SmgGDS (small GTPase guanosine diphosphate dissociation stimulator).
|
NA
|
{
"id": 5908,
"name": "RAP1B",
"pos": [
139,
5
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
248,
12
]
}
|
We introduced permanent middle cerebral artery occlusion (pMCAO) in a model of type 2 diabetic rats prepared by high-fat diet combined with intraperitoneal injection of STZ in vivo and mimicked cerebral ischemia with diabetes by employing high glucose stimulation and oxygen-glucose deprivation/reoxygenation (OGD/R) in vitro.
|
biomarker
|
{
"id": 2260,
"name": "FGFR1",
"pos": [
310,
3
]
}
|
{
"id": "C0011847",
"name": "Diabetes",
"pos": [
217,
8
]
}
|
The JCR:LA-cp rat is a unique strain that develops obesity, insulin resistance, and vasculopathy when homozygous for the autosomal recessive cp gene (cp/cp).
|
NA
|
{
"id": 1356,
"name": "CP",
"pos": [
141,
7
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
60,
18
]
}
|
The aim of the present study was to measure the influence of chronic infection with viral hepatitis C (CHC) genotype 1 and 4 on serum levels of activin-A, activin-B and follistatin, and to determine their correlations with viral load, liver damage, interleukin-6 (IL-6) and tumour necrosis factor (TNF)-α. Sera samples collected from 20 male and 20 female treatment naïve CHC genotype 1 and 4 Saudi patients (ten males and ten females for each genotype), and 40 gender- and age-matched healthy participants were analysed for activin-A, activin-B and follistatin using enzyme-linked immunosorbent assay and their levels were correlated with IL-6, TNF-α, viral load and AST platelet ratio index (APRI).
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
647,
5
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
654,
10
]
}
|
Following disease induction, daily systemic administration of human recombinant Anx-A1 (hrAnx-A1), during the afferent phase of disease, restrained autoreactive CD4(+) cell proliferation, reduced expression of pro-inflammatory cytokines IL-17, IFN-γ and IL-6 and attenuated autoimmune retinal inflammatory disease.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
161,
3
]
}
|
{
"id": "C1290884",
"name": "Inflammatory disorder",
"pos": [
293,
20
]
}
|
These results suggest that SORBS1 and GCK are susceptibility loci for hypertension in Japanese women and that WISP1 is such a locus in men.
|
genomic_alterations
|
{
"id": 10580,
"name": "SORBS1",
"pos": [
27,
6
]
}
|
{
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
70,
12
]
}
|
Primary cutaneous γδ T-cell lymphoma (PCGD TCL), an aggressive type of lymphoma, accounts for approximately 1% of all primary cutaneous lymphomas.
|
biomarker
|
{
"id": 57381,
"name": "RHOJ",
"pos": [
43,
3
]
}
|
{
"id": "C1332206",
"name": "Adult Lymphoma",
"pos": [
71,
8
]
}
|
Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including autosomal dominant nocturnal frontal lobe epilepsy (ENFL2; also known as ADNFLE), a syndrome of mental retardation, spasticity, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA).
|
biomarker
|
{
"id": 50971,
"name": "ENFL2",
"pos": [
179,
5
]
}
|
{
"id": "C1864549",
"name": "Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration",
"pos": [
287,
4
]
}
|
Identification of NANOG as a molecular marker of undifferentiated germ cell tumors provides a novel tool for identifying and classifying tumors of germ cell origin.
|
biomarker
|
{
"id": 79923,
"name": "NANOG",
"pos": [
18,
5
]
}
|
{
"id": "C0205851",
"name": "Germ cell tumor",
"pos": [
66,
16
]
}
|
and a trisomy of 5p15.33 [46,XY,der(14)t(5;14)(p15.33;p11.2) mat].
|
NA
|
{
"id": 8909,
"name": "ENDOU",
"pos": [
54,
3
]
}
|
{
"id": "C0041107",
"name": "Trisomy",
"pos": [
6,
7
]
}
|
Five inborn errors affecting folate transport and metabolism have been well studied: hereditary folate malabsorption, caused by mutations in the gene encoding the proton-coupled folate transporter (SLC46A1); glutamate formiminotransferase deficiency, caused by mutations in the FTCD gene; methylenetetrahydrofolate reductase deficiency, caused by mutations in the MTHFR gene; and functional methionine synthase deficiency, either as the result of mutations affecting methionine synthase itself (cblG, caused by mutations in the MTR gene) or affecting the accessory protein methionine synthase reductase (cblE, caused by mutations in the MTRR gene).
|
NA
|
{
"id": 10841,
"name": "FTCD",
"pos": [
278,
9
]
}
|
{
"id": "C0342705",
"name": "Folate Malabsorption, Hereditary",
"pos": [
85,
31
]
}
|
TRIM44 was shown to promote EMT in GBM progress and reverse inhibitory function of miR-101-3p.
|
biomarker
|
{
"id": 54765,
"name": "TRIM44",
"pos": [
0,
6
]
}
|
{
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
35,
3
]
}
|
Incubation of pro-MSP with hepsin led to robust RON-mediated phosphorylation of mitogen-activated protein kinase, ribosomal S6 protein, and Akt in human A2780 ovarian carcinoma cells stably expressing RON protein.
|
NA
|
{
"id": 4486,
"name": "MST1R",
"pos": [
48,
3
]
}
|
{
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
159,
17
]
}
|
For lung cancer, the risk was significantly higher among Chinese food chefs who had been certified for more than 5 years (adjusted IRR 2.12, 95% CI 1.32-3.40).
|
genomic_alterations
|
{
"id": 3645,
"name": "INSRR",
"pos": [
131,
3
]
}
|
{
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
4,
11
]
}
|
Almost all CCPRCC-like tumors (82%) lacked the characteristic immunoprofile of sporadic CCPRCC (CK7, CAIX, CD10, AMACR), often showing diffuse CD10 labeling (64%), negative or focal CK7 reactivity (55%), or both (18%).
|
NA
|
{
"id": 768,
"name": "CA9",
"pos": [
101,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
79,
8
]
}
|
Gab1 is essential for membrane translocation, activity and integrity of mTORCs after EGF stimulation in urothelial cell carcinoma.
|
NA
|
{
"id": 1950,
"name": "EGF",
"pos": [
85,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
31,
13
]
}
|
We found that expression levels of 5 out of 9 TDP-43 binding microRNAs were altered in the CSF and serum of sporadic ALS cases.
|
NA
|
{
"id": 23435,
"name": "TARDBP",
"pos": [
46,
6
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
108,
8
]
}
|
To better understand the relationship between mutations in TBX5 and the variable expressivity of HOS, we screened the coding and noncoding regions of TBX5 and SALL4 for mutations in 55 probands with HOS.
|
NA
|
{
"id": 6910,
"name": "TBX5",
"pos": [
150,
4
]
}
|
{
"id": "C1861403",
"name": "Variable expressivity",
"pos": [
72,
21
]
}
|
The presence of diabetes, albumin, fibrinogen, and the presence of a persistent elevation of CRP were different between the patients with positive (n = 28) or negative thallium SPECT (n = 45).
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
93,
3
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
35,
10
]
}
|
These HMGIC aberrations are caused by characteristic structural chromosomal aberrations, either visible by conventional cytogenetics or as cryptic abnormalities.
|
NA
|
{
"id": 8091,
"name": "HMGA2",
"pos": [
6,
5
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
147,
13
]
}
|
PSAPP/S100A1(-/-) mice exhibited decreases in astrocytosis (GFAP burden), microgliosis (Iba1 burden) and plaque load/number when compared to PSAPP/S100A1(+/+) mice at six and twelve months of age.
|
NA
|
{
"id": 6271,
"name": "S100A1",
"pos": [
147,
6
]
}
|
{
"id": "C3887640",
"name": "Astrocytosis",
"pos": [
46,
12
]
}
|
Meanwhile, lncRNA-TPTE2P1 stimulated HCC cell migration and invasion by promoting EMT.
|
biomarker
|
{
"id": 646405,
"name": "TPTE2P1",
"pos": [
18,
7
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
60,
8
]
}
|
Among NCCTG patients, CEP1/19p12 fusion prevalence was 55%, 47%, and 0% among the oligodendrogliomas, mixed oligoastrocytomas, and astrocytomas, respectively.
|
NA
|
{
"id": 11135,
"name": "CDC42EP1",
"pos": [
22,
4
]
}
|
{
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
131,
12
]
}
|
Neurotrophin-3 suppresses thermal hyperalgesia associated with neuropathic pain and attenuates transient receptor potential vanilloid receptor-1 expression in adult sensory neurons.
|
therapeutic
|
{
"id": 4908,
"name": "NTF3",
"pos": [
0,
14
]
}
|
{
"id": "C2936719",
"name": "Mechanical Allodynia",
"pos": [
63,
16
]
}
|
Here we showed that the development of cervical intraepithelial neoplasia (CIN) and cervical squamous cell carcinoma (CSCC) in Uighur women was accompanied with the partial or total loss of protein expression of HLA-I, ß2-m and APM components, including the transporter associated with antigen processing (TAP1/2), low molecular mass protein (LMP2, LMP7), endoplasmic reticulum aminopeptidase 1(ERAP1), chaperone molecules include calreticulin (CLR), calnexin (CNX) and ERp57, and this was proved again by analysis of transcription of the same genes in addition to three genes HLA-A, B and C coding for HLA-I.
|
genomic_alterations
|
{
"id": 811,
"name": "CALR",
"pos": [
431,
12
]
}
|
{
"id": "C0279671",
"name": "Cervical Squamous Cell Carcinoma",
"pos": [
84,
32
]
}
|
To evaluate the role of ACT gene polymorphism in primary spontaneous intracerebral hemorrhage (PSICH) and ischemic stroke (IS).
|
NA
|
{
"id": 11332,
"name": "ACOT7",
"pos": [
24,
3
]
}
|
{
"id": "C2937358",
"name": "Cerebral Hemorrhage",
"pos": [
69,
24
]
}
|
PTTG1 levels correlate with tumour aggressiveness.
|
NA
|
{
"id": 9232,
"name": "PTTG1",
"pos": [
0,
5
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
35,
14
]
}
|
In addition, the expression of BMP15 in follicular fluid and Smad1 in granulosa cells was significantly decreased in the PCOS group compared with the control (P<0.05).
|
biomarker
|
{
"id": 4086,
"name": "SMAD1",
"pos": [
61,
5
]
}
|
{
"id": "C0032460",
"name": "Polycystic Ovary Syndrome",
"pos": [
121,
4
]
}
|
Our data indicate that whereas both IL-12/Th1 and IL-23/Th17 are involved in cholangitis, it is the IL-12/Th1 signaling pathway that elicits pathology.
|
NA
|
{
"id": 51497,
"name": "NELFCD",
"pos": [
106,
3
]
}
|
{
"id": "C0008311",
"name": "Cholangitis",
"pos": [
77,
11
]
}
|
This translocation results in the fusion of the bcl-2 oncogene on chromosome 18 with immunoglobulin heavy chain genes on chromosome 14, and in the expression of higher amounts of normal bcl-2 protein.
|
NA
|
{
"id": 3492,
"name": "IGH",
"pos": [
85,
32
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
5,
13
]
}
|
Monocytic annexin A6 positively correlates with body mass index and negatively with systemic adiponectin of the blood donors.
|
NA
|
{
"id": 309,
"name": "ANXA6",
"pos": [
10,
10
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
48,
15
]
}
|
It is concluded that moderate-intensity exercise abnormally increases plasma tumour necrosis factor-alpha levels in chronic obstructive pulmonary disease patients without exercise-induced upregulation of the tumour necrosis factor-alpha gene in skeletal muscle.
|
NA
|
{
"id": 378938,
"name": "MALAT1",
"pos": [
231,
10
]
}
|
{
"id": "C0024117",
"name": "Chronic Obstructive Airway Disease",
"pos": [
116,
37
]
}
|
PGC-1α/SNAI1 axis regulates tumor growth and metastasis by targeting miR-128b in gastric cancer.
|
biomarker
|
{
"id": 6615,
"name": "SNAI1",
"pos": [
7,
5
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
45,
10
]
}
|
Molecular profiling of CD3-CD4+ T cells from patients with the lymphocytic variant of hypereosinophilic syndrome reveals targeting of growth control pathways.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
27,
3
]
}
|
{
"id": "C1540912",
"name": "Hypereosinophilic syndrome",
"pos": [
86,
26
]
}
|
This indicates that miR-542-3p regulates CTTN in a targeted manner to modulate the growth and invasion of colorectal cancer cells.
|
biomarker
|
{
"id": 2017,
"name": "CTTN",
"pos": [
41,
4
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
94,
8
]
}
|
While in patients with chronic lymphocytic leukemia (CLL), hairy cell leukemia (HCL), multiple myeloma (MM) and related disorders, primary acute myeloid leukemia (AML), chronic myeloid leukemia (CML), and Hodgkin's disease (HD), the allelic distribution of IL-1RN was comparable to that seen in healthy control subjects, in a small group of patients with secondary AML the frequency of the IL-1RN*4 allele appeared to be significantly increased.
|
NA
|
{
"id": 3557,
"name": "IL1RN",
"pos": [
390,
6
]
}
|
{
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
169,
24
]
}
|
Deregulation of HGF/MET signaling is reported as a prognostic marker for tumorigenesis, early stage invasion, and metastasis.
|
NA
|
{
"id": 3082,
"name": "HGF",
"pos": [
16,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
73,
13
]
}
|
We have recently characterized a fusion gene, OTT-MAL, resulting from this translocation.
|
NA
|
{
"id": 64783,
"name": "RBM15",
"pos": [
46,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
75,
13
]
}
|
Androgen receptor mutation (T877A) promotes prostate cancer cell growth and cell survival.
|
genomic_alterations
|
{
"id": 367,
"name": "AR",
"pos": [
0,
17
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
44,
15
]
}
|
In a nested case-control study comparing 746 lung cancer cases to 1,477 controls, all of whom were non-Hispanic white smokers in the β-Carotene and Retinol Efficacy Trial, we examined whether lung cancer risk is associated with single nucleotide polymorphisms (SNPs) tagging the AGPHD1, CHRNA5, CHRNA3, and CHRNB4 genes and whether such risk is modified by diet and other characteristics.
|
genomic_alterations
|
{
"id": 1143,
"name": "CHRNB4",
"pos": [
307,
6
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
192,
11
]
}
|
In conclusion, BBP exerts its anti-proliferative effect on prostate cancer cells by modulating the expression and phosphorylation of multiple regulatory proteins essential for cell proliferation.
|
NA
|
{
"id": 83941,
"name": "TM2D1",
"pos": [
15,
3
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
59,
15
]
}
|
MicroRNAs (miRNAs) have been implicated in the pathogenesis and progression of brain tumors. miR-21 is one of the most highly overexpressed miRNAs in glioblastoma multiforme (GBM), and its level of expression correlates with the tumor grade.
|
biomarker
|
{
"id": 406991,
"name": "MIR21",
"pos": [
93,
6
]
}
|
{
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
79,
12
]
}
|
Similarly, activation of Notch1 signaling promoted acquired resistance to MAPK inhibitors in BRAF(V600E) melanoma cells in culture, and the abundance of Notch1 pathway markers was increased in tumors from a subset of melanoma patients.
|
genomic_alterations
|
{
"id": 4851,
"name": "NOTCH1",
"pos": [
153,
6
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
193,
6
]
}
|
This study constitutes the first report of a functional genetic polymorphism that could affect Rac1 expression and thus modulate the risk of adverse drug reaction in patients under thiopurine treatment.
|
NA
|
{
"id": 5879,
"name": "RAC1",
"pos": [
95,
4
]
}
|
{
"id": "C0041755",
"name": "Adverse reaction to drug",
"pos": [
141,
21
]
}
|
It was demonstrated that Ad-ING4-IL-24 induced synergistic growth inhibition, apoptosis, invasion suppression, as well as an enhanced effect on upregulation of P21, P27, Fas, FasL, FADD, Bad, Bax, Bak, cleaved Bid, cleaved Caspase-8, -9, and -3, and cleaved PARP, downregulation of Bcl-2, Bcl-X(L), matrix metalloproteinase (MMP)-2, 9, vascular endothelial growth factor (VEGF), IL-8, CD34, and microvessel density, and cytochrome c release from mitochondria into cytosol in in vitro SMMC-7721 and HepG2 hepatocarcinoma cells and/or in vivo SMMC-7721 hepatocarcinoma subcutaneous xenografted tumors in athymic nude mice.
|
NA
|
{
"id": 54205,
"name": "CYCS",
"pos": [
420,
12
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
592,
6
]
}
|
Moreover, PIK3CA hotspot mutations (c.1624G>A [p.Glu542Lys] and c.1633G>A [p.Glu545Lys]) were enriched in APOBEC-signature tumors, and no smoking-associated signature was observed in ESCC.
|
NA
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
10,
6
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
138,
7
]
}
|
Additional studies are needed to further evaluate the influence of PDYN polymorphism in pruritus.
|
NA
|
{
"id": 5173,
"name": "PDYN",
"pos": [
67,
4
]
}
|
{
"id": "C0033774",
"name": "Pruritus",
"pos": [
88,
8
]
}
|
These ALK gene rearrangements are present in 3-5 % of NSCLC patients, typically younger, never or light smokers with adenocarcinomas.
|
genomic_alterations
|
{
"id": 238,
"name": "ALK",
"pos": [
6,
3
]
}
|
{
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
117,
15
]
}
|
The hypomethylation agent bisdemethoxycurcumin acts on the WIF-1 promoter, inhibits the canonical Wnt pathway and induces apoptosis in human non-small-cell lung cancer.
|
genomic_alterations
|
{
"id": 11197,
"name": "WIF1",
"pos": [
59,
5
]
}
|
{
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
141,
26
]
}
|
Nonalcoholic fatty liver diseases (NAFLDs) comprise a spectrum of disorders that range from simple fatty liver (SFL) to nonalcoholic steatohepatitis (NASH).
|
NA
|
{
"id": 55337,
"name": "SHFL",
"pos": [
112,
3
]
}
|
{
"id": "C3241937",
"name": "Nonalcoholic Steatohepatitis",
"pos": [
120,
28
]
}
|
Previous studies have demonstrated that terminal fucosylation is associated with the biological aggressiveness of carcinomas, but the significance of core fucosylation (alpha1,6-fucosylation) through alpha1,6-fucosyltransferase (FUT8) has not been studied in depth.
|
NA
|
{
"id": 2530,
"name": "FUT8",
"pos": [
229,
4
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
114,
10
]
}
|
The mutant RNA transcripts of DM1 and DM2 aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance.
|
NA
|
{
"id": 1180,
"name": "CLCN1",
"pos": [
126,
5
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
201,
18
]
}
|
Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats.
|
therapeutic
|
{
"id": 43,
"name": "ACHE",
"pos": [
82,
20
]
}
|
{
"id": "C0751494",
"name": "Convulsive Seizures",
"pos": [
20,
8
]
}
|
Voxel-based morphometry of cases who had inherited a PCM1 genetic susceptibility showed a significant relative reduction in the volume of orbitofrontal cortex gray matter in comparison with patients with non-PCM1-associated schizophrenia, who, by contrast, showed gray matter volume reduction in the temporal pole, hippocampus, and inferior temporal cortex.
|
NA
|
{
"id": 4152,
"name": "MBD1",
"pos": [
208,
4
]
}
|
{
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
224,
13
]
}
|
Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene.
|
NA
|
{
"id": 6862,
"name": "TBXT",
"pos": [
114,
6
]
}
|
{
"id": "C0007194",
"name": "Hypertrophic Cardiomyopathy",
"pos": [
21,
27
]
}
|
Sixty-three archival cases of Paget's disease of the vulva, including eight associated with invasive disease, and 23 archival cases of Paget's disease of breast, which included 10 cases with ductal carcinoma in situ alone, four cases with both ductal carcinoma in situ and invasive carcinoma, and five cases with underlying invasive carcinoma alone, were analysed immunohistochemically for expression of E-cadherin, plakoglobin and beta-catenin proteins.
|
NA
|
{
"id": 3728,
"name": "JUP",
"pos": [
416,
11
]
}
|
{
"id": "C1334274",
"name": "Invasive Carcinoma",
"pos": [
324,
18
]
}
|
The result of ANOVA revealed that the most important factor in tissue injury is foam cells development induced by VCAM-1 and IL-8 in all of phases (characterized by most abundant neutrophil infiltration).
|
NA
|
{
"id": 4858,
"name": "NOVA2",
"pos": [
14,
5
]
}
|
{
"id": "C4281786",
"name": "Presence of foam cells",
"pos": [
80,
10
]
}
|
The elevated expression of TIF2 at low hormone levels likely aids in inducing AR activity under these conditions; treatment with Casodex has the potential to counteract this induction.
|
NA
|
{
"id": 10499,
"name": "NCOA2",
"pos": [
27,
4
]
}
|
{
"id": "C0001175",
"name": "Acquired Immunodeficiency Syndrome",
"pos": [
61,
4
]
}
|
We assessed the CpG island methylator phenotype (CIMP) using eight methylation markers [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and LINE-1 (L1) hypomethylation, TP53 (p53), and microsatellite instability (MSI).
|
NA
|
{
"id": 864,
"name": "RUNX3",
"pos": [
140,
5
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
208,
26
]
}
|
The relationship between STMN1, miR-223, and JNK was assessed using MPM cell lines, cells from pleural effusions, and MPM tissue.
|
NA
|
{
"id": 5599,
"name": "MAPK8",
"pos": [
45,
3
]
}
|
{
"id": "C0032227",
"name": "Pleural effusion disorder",
"pos": [
95,
17
]
}
|
Mild expression of 3qter trisomy due to a de novo (X;3)(p22.3;q25.3) translocation.
|
NA
|
{
"id": 11261,
"name": "CHP1",
"pos": [
56,
3
]
}
|
{
"id": "C0041107",
"name": "Trisomy",
"pos": [
25,
7
]
}
|
Unc119 is an adaptor protein that is involved in the development of the vertebrate nervous system.
|
NA
|
{
"id": 9094,
"name": "UNC119",
"pos": [
0,
6
]
}
|
{
"id": "C0422837",
"name": "Neurological observations",
"pos": [
83,
14
]
}
|
We tested the hypothesis that a common functional variant in brain-derived neurotrophic factor (BDNF), Val66Met, which has been shown to be associated with increased body mass index (BMI) in schizophrenia (SCZ) and schizoaffective disorder (SAD), is also associated with antipsychotic-induced weight gain in bipolar disorder (BPD).
|
NA
|
{
"id": 627,
"name": "BDNF",
"pos": [
96,
4
]
}
|
{
"id": "C0043094",
"name": "Weight Gain",
"pos": [
293,
11
]
}
|
Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
9,
3
]
}
|
{
"id": "C0206686",
"name": "Adrenocortical carcinoma",
"pos": [
50,
24
]
}
|
Upon characterization of STG, we identified several sequence variants and investigated their association with psoriasis in cases and controls from the Swedish population.
|
NA
|
{
"id": 29113,
"name": "C6orf15",
"pos": [
25,
3
]
}
|
{
"id": "C0033860",
"name": "Psoriasis",
"pos": [
110,
9
]
}
|
Surprisingly, CAIX expression was associated with increased necrosis and apoptosis in vivo and in vitro.
|
NA
|
{
"id": 768,
"name": "CA9",
"pos": [
14,
4
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
60,
8
]
}
|
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