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|---|---|---|---|
We evaluated the relationship between biological behavior and microsatellite instability (MSI) status, with or without p53 status, in sporadic colorectal carcinoma. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
119,
3
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
62,
26
]
} |
There was no simple correlation apparent between AADC and PAM gene expression in the lung cancer cell lines. | NA | {
"id": 1644,
"name": "DDC",
"pos": [
49,
4
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
85,
11
]
} |
Our results suggest that Lgl2 loss occurs at an early stage of gastric carcinogenesis and contributes to GC progression. | biomarker | {
"id": 9670,
"name": "IPO13",
"pos": [
25,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
105,
2
]
} |
We examined the association between a polymorphism in intron 7 of TPH1, 218A>C and plasma total TRP levels in 118 patients with major depression. | NA | {
"id": 7306,
"name": "TYRP1",
"pos": [
96,
3
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
128,
16
]
} |
CONCLUSIONS LINK-A lncRNA may be involved in the metastasis of ovarian carcinoma by upregulating HIF1alpha. | biomarker | {
"id": 339535,
"name": "LINC01139",
"pos": [
12,
6
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
63,
17
]
} |
Our analysis confirms the presence of the hSNF5/INI1 mutations and proves involvement of TP53 mutations in sporadic cases of CPC. | NA | {
"id": 6598,
"name": "SMARCB1",
"pos": [
48,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
107,
8
]
} |
Matrix metalloproteinase-28 (MMP-28, epilysin) is highly expressed in the skin by keratinocytes, the developing and regenerating nervous system and a number of other normal human tissues. | NA | {
"id": 79148,
"name": "MMP28",
"pos": [
37,
8
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
129,
14
]
} |
MiRNA profiling shows that expression of miR-378 family members (miR-378a-3p, miR-378b and miR-378d) declines in carbon tetrachloride (CCl4)-treated compared with corn-oil-treated mice. | NA | {
"id": 6351,
"name": "CCL4",
"pos": [
135,
4
]
} | {
"id": "C0010046",
"name": "Corn of toe",
"pos": [
163,
4
]
} |
Because CD36 has been shown to cooperate with TLR2, we investigated the roles and interactions of CD36 and TLRs in inflammation and phagocytosis. | NA | {
"id": 948,
"name": "CD36",
"pos": [
98,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
115,
12
]
} |
Despite the elevation of atherogenic lipoproteins, high HDL2-cholesterol and normal lipoprotein(a) concentrations may be one of the reasons why patients with advanced PBC are not placed at increased risk for atherosclerosis. | biomarker | {
"id": 57338,
"name": "JPH3",
"pos": [
56,
4
]
} | {
"id": "C0008312",
"name": "Primary biliary cirrhosis",
"pos": [
167,
3
]
} |
CLOCK in breast tumorigenesis: genetic, epigenetic, and transcriptional profiling analyses. | NA | {
"id": 9575,
"name": "CLOCK",
"pos": [
0,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
16,
13
]
} |
Prolonged hypoxia also induced an increase in the quantity of natural antisense HIF-1alpha (aHIF), whose gene promoter contains several putative hypoxia response elements to which (as we confirm here) the HIF-1alpha or HIF-2alpha protein can bind. | NA | {
"id": 100750247,
"name": "HIF1A-AS2",
"pos": [
92,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
145,
7
]
} |
Long noncoding RNAs cancer susceptibility candidate 2 (CASC2) has recently been demonstrated to be correlated to tumorigenesis in renal cell carcinoma, lung carcinoma, glioma, and gastric carcinoma. | biomarker | {
"id": 255082,
"name": "CASC2",
"pos": [
55,
5
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
130,
20
]
} |
We revealed that calbindin-immunoreactive varicosities form specialized structures resembling 'baskets' within the majority of myenteric ganglia, which were arranged in clusters around calretinin-immunoreactive neurons. | biomarker | {
"id": 794,
"name": "CALB2",
"pos": [
185,
10
]
} | {
"id": "C0042345",
"name": "Varicosity",
"pos": [
42,
12
]
} |
Both autosomal recessive and autosomal dominant forms exist, but this Review focuses on autosomal recessive osteopetrosis (ARO), also known as malignant infantile osteopetrosis. | NA | {
"id": 1588,
"name": "CYP19A1",
"pos": [
123,
3
]
} | {
"id": "C0029454",
"name": "Osteopetrosis",
"pos": [
163,
13
]
} |
These results demonstrate a critical role for RRAD in GBM tumorigenesis and provide a rationale for the development of pharmacologic inhibitors of RRAD in GBM. | NA | {
"id": 6236,
"name": "RRAD",
"pos": [
147,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
58,
13
]
} |
Immunohistochemical staining of PRDX3 was performed on FFPE tissue microarray samples of 92 primary UM tumours from patients who did and did not develop metastatic disease. | biomarker | {
"id": 10935,
"name": "PRDX3",
"pos": [
32,
5
]
} | {
"id": "C0220633",
"name": "Uveal melanoma",
"pos": [
100,
2
]
} |
These data suggest distinct roles for ICK/MAK/MOK protein kinases in the regulation of intestinal neoplasia. | NA | {
"id": 57538,
"name": "ALPK3",
"pos": [
42,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
98,
9
]
} |
Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase that, when genetically altered by mutation, amplification, chromosomal translocation or inversion, has been shown to play an oncogenic role in certain cancers. | NA | {
"id": 238,
"name": "ALK",
"pos": [
28,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
122,
25
]
} |
Morphometric analysis of pulmonary aterioles from hypoxic mice or SUH rats showed that IFNα inhibited pulmonary vascular remodeling in both models and that IFNα reversed remodeling in SUH rats with established disease. | NA | {
"id": 3516,
"name": "RBPJ",
"pos": [
184,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
50,
7
]
} |
Taken together, our study demonstrated circ-VANGL1/miR-605-3p/VANGL1 as a novel essential signaling pathway involved in BC progression. | biomarker | {
"id": 693190,
"name": "MIR605",
"pos": [
51,
7
]
} | {
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
120,
2
]
} |
SAP colocalized with all four apolipoproteins to a similar extent, whereas plaque macrophages were found to correlate most strongly with apoC-II and apoB. | NA | {
"id": 325,
"name": "APCS",
"pos": [
0,
3
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
75,
6
]
} |
TSPY potentiates cell proliferation and tumorigenesis by promoting cell cycle progression in HeLa and NIH3T3 cells. | NA | {
"id": 7258,
"name": "TSPY1",
"pos": [
0,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
40,
13
]
} |
High-titer third-generation self-inactivating lentiviral constructs were developed to deliver a second-generation CD19-specific CAR and the herpes simplex virus thymidine kinase HSVsr39TK to provide a suicide gene to allow ablation of gene-modified cells if necessary. | biomarker | {
"id": 930,
"name": "CD19",
"pos": [
114,
4
]
} | {
"id": "C0019348",
"name": "Herpes Simplex Infections",
"pos": [
140,
14
]
} |
Results showed that five genes (GPX1, NEIL1, NFE2L2, OGG1, and SOD2) were associated with MDS, two (DNMT3B and SLC19A1) with AML, and two (CYBA and DNMT1) with both diseases. | genomic_alterations | {
"id": 6648,
"name": "SOD2",
"pos": [
63,
4
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
90,
3
]
} |
In two separate cohorts of patients, LGR5 and RSPO2 were associated with markers of tumor aggressiveness including: lymph node metastases, vascular invasion, increased tumor size, aggressive histology, advanced AJCC TNM stage, microscopic extra thyroidal extension, capsular invasion, and macroscopic invasion. | NA | {
"id": 340419,
"name": "RSPO2",
"pos": [
46,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
90,
14
]
} |
After exclusion of BRCA1, BRCA2, and syndromic breast cancer genes (CDH1, PTEN, and TP53), observed pathogenic variants in 5 of 16 genes were associated with high or moderately increased risks of breast cancer: ATM (OR, 2.78; 95% CI, 2.22-3.62), BARD1 (OR, 2.16; 95% CI, 1.31-3.63), CHEK2 (OR, 1.48; 95% CI, 1.31-1.67), PALB2 (OR, 7.46; 95% CI, 5.12-11.19), and RAD51D (OR, 3.07; 95% CI, 1.21-7.88). | genomic_alterations | {
"id": 79728,
"name": "PALB2",
"pos": [
320,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
47,
13
]
} |
We had reported that the severe reduction of MHC in SCLC was caused by a deficient interferon (IFN)-gamma-inducible expression of class II transactivator (CIITA) that is known as a very important transcription factor for IFN-gamma-inducible class II and class I MHC expression (Yazawa T, Kamma H, Fujiwara M, Matsui M, Horiguchi H, Satoh H, Fujimoto M, Yokohama K, Ogata T: Lack of class II transactivator causes severe deficiency of HLA-DR expression in small cell lung cancer. | NA | {
"id": 4261,
"name": "CIITA",
"pos": [
382,
23
]
} | {
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
455,
22
]
} |
However, the contributions of NF-κB signaling to tumor initiation are less well understood. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
30,
5
]
} | {
"id": "C0598935",
"name": "Tumor Initiation",
"pos": [
49,
16
]
} |
Olaratumab (OLA), a monoclonal antibody against platelet-derived growth factor receptor alpha (PDGFRα), has recently been used against soft-tissue sarcoma (STS) combined with doxorubicin (DOX), with limited efficacy. | biomarker | {
"id": 5156,
"name": "PDGFRA",
"pos": [
95,
6
]
} | {
"id": "C2717836",
"name": "Steroid Sulfatase Deficiency Disease",
"pos": [
156,
3
]
} |
Microarray expression of probesets annotated to SAT1 were examined across 17 brain regions in 13 controls and 26 individuals who have died by suicide (16 with a diagnosis of major depression and 10 without), all of French-Canadian origin. | NA | {
"id": 6303,
"name": "SAT1",
"pos": [
48,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
142,
7
]
} |
In a clinically well-characterized cohort of 83 women with peripartum cardiomyopathy, the presence of TTN truncating variants was significantly correlated with a lower ejection fraction at 1-year follow-up (P=0.005). | NA | {
"id": 7273,
"name": "TTN",
"pos": [
102,
3
]
} | {
"id": "C0877208",
"name": "Peripartum cardiomyopathy",
"pos": [
59,
25
]
} |
To identify and understand early events in lung carcinogenesis, we used a cDNA array to screen for genes that are expressed differentially in normal human bronchial epithelial (NHBE) cells and a tumorigenic cell line (1170-I) derived from immortalized HBE cells after exposure to cigarette smoke condensate in vivo. | NA | {
"id": 3046,
"name": "HBE1",
"pos": [
252,
3
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
48,
14
]
} |
Diverse heterozygous mutations of bone morphogenetic receptor type II (BMPR-II) underlie the inherited form of the vascular disorder primary pulmonary hypertension (PPH). | NA | {
"id": 659,
"name": "BMPR2",
"pos": [
71,
7
]
} | {
"id": "C0042373",
"name": "Vascular Diseases",
"pos": [
115,
17
]
} |
TRA-8 anti-DR5 monoclonal antibody and gemcitabine induce apoptosis and inhibit radiologically validated orthotopic pancreatic tumor growth. | therapeutic | {
"id": 8795,
"name": "TNFRSF10B",
"pos": [
9,
3
]
} | {
"id": "C0030297",
"name": "Pancreatic Neoplasm",
"pos": [
116,
16
]
} |
To evaluate protein and mRNA expression of RPE65 in actinic keratosis (AK), squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) compared with normal skin. | NA | {
"id": 6121,
"name": "RPE65",
"pos": [
43,
5
]
} | {
"id": "C0007117",
"name": "Basal cell carcinoma",
"pos": [
110,
20
]
} |
Cell density also correlated with increased staining for reductively activated pimonidazole (a marker for hypoxia), as well as with increased levels of the HIF-1alpha subunit and HIF transcriptional activity as determined by immunocytochemistry, Western blot, and luciferase reporter assays. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
156,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
106,
7
]
} |
COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult-onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). | NA | {
"id": 1282,
"name": "COL4A1",
"pos": [
0,
6
]
} | {
"id": "C0553692",
"name": "Brain hemorrhage",
"pos": [
125,
18
]
} |
Injection of an IGF-IR blocking antibody alphaIR3 into mice harboring parental U87 tumors inhibits tumor growth and increases apoptosis. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
79,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
83,
6
]
} |
Animal models based on TDP-43 will address the relationships between TDP-43 expression levels, pathology, neuronal loss, muscle atrophy, motor function and causative mechanisms of disease. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
69,
6
]
} | {
"id": "C0026846",
"name": "Muscular Atrophy",
"pos": [
121,
14
]
} |
Ghrelin improves disturbed myocardial energy metabolism in rats with heart failure induced by isoproterenol. | therapeutic | {
"id": 51738,
"name": "GHRL",
"pos": [
0,
7
]
} | {
"id": "C0235527",
"name": "Heart Failure, Right-Sided",
"pos": [
69,
13
]
} |
The candidate genes located at amplified regions of chromosomes or low-level gain regions such as PLA2G5 (1p36-p34), COL11A1 (1p21), KCNK2 (1q41), S100A3 (1q21), ENAH (1q42.12), RGS1 (1q31), KCNH1 (1q32-q41), INSIG2 (2q14.1), FGF12 (3q28), TRIO (5p15.2), RNASEN (5p15.2), FGF10 (5p13-p12), EDN1(6p24.1-p22.3), SULF1 (8q13.2-13.3), TLR4 (9q32-q33), TNC (9q33), NTRK2 (9q22.1), CD44 (11p13), NCAM1 (11q23.1), TRIM29 (11q22-q23), PAK1 (11q13-q14) and RAB27A (15q15-q21.1), are found to be associated with cellular migration and proliferation, tumor cell metastasis and invasion, anchorage independent growth and inhibition of apoptosis. | biomarker | {
"id": 5322,
"name": "PLA2G5",
"pos": [
98,
6
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
566,
8
]
} |
Complementary in vitro and in vivo studies underscore the importance of TRB3 for tumor growth. | biomarker | {
"id": 57761,
"name": "TRIB3",
"pos": [
72,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
81,
5
]
} |
Gene-modified tumor vaccine secreting a designer cytokine Hyper-Interleukin-6 is an effective therapy in mice bearing orthotopic renal cell cancer. | biomarker | {
"id": 3569,
"name": "IL6",
"pos": [
64,
13
]
} | {
"id": "C1333001",
"name": "Childhood Renal Cell Carcinoma",
"pos": [
129,
17
]
} |
Cross-sectional studies found less microalbuminuria in type 2 diabetic patients with the Ala12 allele of the peroxisome proliferator-activated receptor-gamma2 (PPAR-gamma2) Pro12Ala polymorphism. | NA | {
"id": 5465,
"name": "PPARA",
"pos": [
160,
4
]
} | {
"id": "C0730345",
"name": "Microalbuminuria",
"pos": [
35,
16
]
} |
We describe new presenting features in patients with GLIS3 mutations, including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency. | NA | {
"id": 169792,
"name": "GLIS3",
"pos": [
53,
5
]
} | {
"id": "C0018817",
"name": "Atrial Septal Defects",
"pos": [
113,
20
]
} |
Plasma urotensin II was raised in hypertensive patients compared to normotensive controls, and was directly related to systolic blood pressure. | NA | {
"id": 10911,
"name": "UTS2",
"pos": [
7,
12
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
119,
23
]
} |
We screened 81 ovarian tumours (30 BRCA1 associated, 18 BRCA2 associated, and 33 sporadic) for somatic TP53 mutations using both DNA analysis and immunostaining. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
35,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
81,
8
]
} |
In this study, we have tested adenovirus-p16 in several bladder cancer cell lines and investigated a way of improving the low transduction rate. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
41,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
30,
10
]
} |
For Ku70, further studies are required to investigate the potential relationship of non-homologous end joining with chromosomal instability. | NA | {
"id": 2547,
"name": "XRCC6",
"pos": [
4,
4
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
116,
23
]
} |
Mastermind-like 1 Is a specific coactivator of beta-catenin transcription activation and is essential for colon carcinoma cell survival. | NA | {
"id": 9794,
"name": "MAML1",
"pos": [
0,
17
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
106,
15
]
} |
A total of 93 HTLV-1-infected individuals participated in the study, as follows: 84 (90.3%) asymptomatic and 9 (9.7%) with HAM/TSP. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
127,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
92,
12
]
} |
In ALCL, the upregulation of HIF1α and HIF2α in hypoxic conditions required ALK activity and its downstream signaling proteins STAT3 and C/EBPβ. | NA | {
"id": 238,
"name": "ALK",
"pos": [
76,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
48,
7
]
} |
In addition, we discuss the recent findings that expand the functions of CETP to new areas of interest such as Alzheimer's disease, inflammation, and obesity. | NA | {
"id": 1071,
"name": "CETP",
"pos": [
73,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
132,
12
]
} |
Breast cancer survivors carrying the Met/Met genotype reported higher levels of fatigue (all subscales, P < 0.001), higher neck pain intensity, and lower PPT over C5-C6 joints and deltoid muscles (all, P < 0.001) relative to those with Val/Met or Val/Val genotypes. | NA | {
"id": 5538,
"name": "PPT1",
"pos": [
154,
3
]
} | {
"id": "C0015672",
"name": "Fatigue",
"pos": [
80,
7
]
} |
The t(6;9)(p23;q34) is a recurrent chromosomal abnormality observed in 1% of acute myelogenous leukemia (AML), which generates a fusion transcript between DEK and CAN/NUP214 genes. | genomic_alterations | {
"id": 7913,
"name": "DEK",
"pos": [
155,
3
]
} | {
"id": "C0008626",
"name": "Congenital chromosomal disease",
"pos": [
35,
23
]
} |
158 heavy drinkers (approximately 85% of all heavy drinkers in the population; daily alcohol intake > 120 g in males and >60 g in females) were investigated by the analysis of nine polymorphic regions, mapping in exons III and IX of the alcohol-dehydrogenase (ADH)-2 gene, in exon VIII of the ADH3 gene, in intron VI, in the promoter region of the cytochrome P4502E1 (CYP2E1) gene, and in the promoter region of the tumor necrosis factor-alpha gene. | NA | {
"id": 126,
"name": "ADH1C",
"pos": [
293,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
85,
14
]
} |
CHEK1 mRNA is highly abundant in patients of the proliferative T-ALL subgroup and leukemia cells exhibit constitutively elevated levels of the replication stress marker phospho-RPA32 and the DNA damage marker γH2AX. | NA | {
"id": 6118,
"name": "RPA2",
"pos": [
177,
5
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
82,
8
]
} |
DNA combing technology revealed a profound spontaneous alteration of several DNA replication parameters in patient's cells and FISH analyses highlighted the genomic instability caused by ATR deficiency. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
127,
4
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
157,
19
]
} |
The expression of S100P correlated with female sex (P = 0.0162), high serum α-fetoprotein level (P = 0.0001), high tumor grade (P = 0.0029), high tumor stage (P = 0.0319), the presence of the p53 mutation (P = 0.0032), and the absence of the β-catenin mutation (P = 0.0489). | NA | {
"id": 6286,
"name": "S100P",
"pos": [
18,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
115,
5
]
} |
We show complete loss of the ZNF750 epidermal differentiation regulator in about half of ocular SeC, highlighting the most common genetic defect in this cancer type. | genomic_alterations | {
"id": 79755,
"name": "ZNF750",
"pos": [
29,
6
]
} | {
"id": "C0206684",
"name": "Sebaceous Adenocarcinoma",
"pos": [
96,
3
]
} |
Because clinical heterogeneity was observed in this family, with some members affected with retinitis punctata albescens and one member affected with features typical of retinitis pigmentosa, we analyzed the apolipoprotein E gene to elucidate this unusual intrafamilial heterogeneity. | NA | {
"id": 348,
"name": "APOE",
"pos": [
208,
21
]
} | {
"id": "C1405854",
"name": "Retinitis punctata albescens (disorder)",
"pos": [
92,
28
]
} |
The data show that in CRF (a) the mRNA of hepatic lipase is downregulated, and hepatic lipase production, activity and release are impaired, (b) that this is due to the state of secondary hyperparathyroidism of CRF since both acute and chronic excess of PTH were associated with these abnormalities, (c) and that prevention of excess PTH by PTX of CRF rats or blocking the effect of PTH by treatment with verapamil corrected the derangement in hepatic lipase metabolism. | NA | {
"id": 5741,
"name": "PTH",
"pos": [
383,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
285,
13
]
} |
A regression model including PON2 Ala148Gly genotype, HDLC, and ln cystatin C explained 25.8% of the variance in PON1 mass. | NA | {
"id": 5444,
"name": "PON1",
"pos": [
113,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
2,
10
]
} |
Surprisingly, GOLM1 immunoreactivity was detected in the supernatants of prostate cell lines and in the urine of patients with prostate cancer. | biomarker | {
"id": 51280,
"name": "GOLM1",
"pos": [
14,
5
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
127,
15
]
} |
Ten polymorphisms were genotyped in 191 endometrial cancer cases and 291 controls using real-time PCR: NOD1 (rs2075822, rs2907749, rs2907748), NOD2 (rs5743260, rs2066844, rs2066845), TLR2 (rs5743708), TLR4 (rs4986790) and TLR9 (rs5743836, rs187084). | NA | {
"id": 7099,
"name": "TLR4",
"pos": [
201,
4
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
40,
18
]
} |
To investigate the impact of different angiogenic micro-environments on EDB-FN expression, we used a tumour model in which human endometrial adenocarcinoma Tet-FGF2 cells overexpressing fibroblast growth factor-2 (FGF2) driven by the tetracycline-responsive promoter were further transfected with a VEGF antisense cDNA, generating AS-VEGF/Tet-FGF2 cells. | NA | {
"id": 2258,
"name": "FGF13",
"pos": [
343,
4
]
} | {
"id": "C1153706",
"name": "Endometrial adenocarcinoma",
"pos": [
129,
26
]
} |
Abnormalities of the gene occur rarely by chromosomal translocation into the T-cell receptor (TCR) delta locus and commonly by a site-specific 95-kb deletion, SIL-SCL (tald). | NA | {
"id": 3855,
"name": "KRT7",
"pos": [
163,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
42,
25
]
} |
Counting PAT and MAT transmissions in these unilineal families we found nearly equal numbers for both transmission types under a narrow (BP: bipolar disorder, schizoaffective-bipolar type disorder) and a broad definition (AFF: BP, recurrent unipolar depression) of the phenotype. | NA | {
"id": 38,
"name": "ACAT1",
"pos": [
17,
3
]
} | {
"id": "C0041696",
"name": "Unipolar Depression",
"pos": [
241,
19
]
} |
Thus, our results provide rationale for therapeutic evaluation of the treatment of hypoxic ERBB2 expressing breast tumors with a combination of lapatinib and MEK inhibitors. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
91,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
83,
7
]
} |
Binding assays and Scatchard analysis revealed that GA5 could specifically bind to Tie2 with a dissociation constant of 2.1x10(-8)M. In addition, we showed that GA5 was internalized into tumor cells highly expressing Tie2. | NA | {
"id": 7010,
"name": "TEK",
"pos": [
217,
4
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
95,
12
]
} |
An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation. | NA | {
"id": 2521,
"name": "FUS",
"pos": [
33,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
94,
25
]
} |
Evidence for the participation of cocaine- and amphetamine-regulated transcript peptide (CART) in the fluoxetine-induced anti-hyperalgesia in neuropathic rats. | therapeutic | {
"id": 9607,
"name": "CARTPT",
"pos": [
34,
45
]
} | {
"id": "C0751213",
"name": "Tactile Allodynia",
"pos": [
89,
4
]
} |
Overexpression of BNP improved LV fractional shortening by 22% (P<0.05, n=6 to 7) and ejection fraction by 19% (P<0.05, n=6 to 7) after infarction. | NA | {
"id": 4879,
"name": "NPPB",
"pos": [
18,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
136,
10
]
} |
Paraoxonase 1 (PON1) status in gastroesophageal malignancies and associated paraneoplastic syndromes - connection with inflammation. | NA | {
"id": 5444,
"name": "PON1",
"pos": [
15,
4
]
} | {
"id": "C0030472",
"name": "Paraneoplastic Syndromes",
"pos": [
76,
24
]
} |
The same trend was found in patients with MSS-aneuploid CRC(wild p53 vs. mutant p53, 64% vs. 41%, p = 0.009). | NA | {
"id": 7157,
"name": "TP53",
"pos": [
80,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
46,
9
]
} |
However, Podxl-null mice showed prolonged bleeding time and decreased platelet aggregation in response to physiological agonists. | NA | {
"id": 5420,
"name": "PODXL",
"pos": [
9,
5
]
} | {
"id": "C0151529",
"name": "Prolonged bleeding time",
"pos": [
32,
23
]
} |
In the multivariate analysis, the presence of GSTM1 null genotype remained in the model (OR, 2.1) in addition to smoking and age. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
46,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
113,
7
]
} |
The positive rate and PKR score were significantly higher in papillary carcinoma (75 of 80, 94%, PKR score = 4.47 +/- 2.17) than in nonpapillary carcinomas (2 of 6, 33%, PKR score = 1.50 +/- 2.81). | NA | {
"id": 5610,
"name": "EIF2AK2",
"pos": [
170,
3
]
} | {
"id": "C0007133",
"name": "Carcinoma, Papillary",
"pos": [
61,
19
]
} |
Pin1 positively affects tumorigenesis of esophageal squamous cell carcinoma and correlates with poor survival of patients. | NA | {
"id": 23037,
"name": "PDZD2",
"pos": [
0,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
24,
13
]
} |
HA binding to SK-OV-3.ipl cells promotes recruitment of both Grb2 and p185(HER2) to the CD44v3-Vav2 complex leading to Ras activation and ovarian tumor cell growth. | NA | {
"id": 7410,
"name": "VAV2",
"pos": [
95,
4
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
138,
13
]
} |
The structures suggest that although a precise fit between the shape of the inhibitor molecules and T. cruzi CYP51 active site topology underlies their high inhibitory potency, a longer coordination bond between the catalytic heme iron and the pyridine nitrogen implies a weaker influence of pyridines on the iron reduction potential, which may be the basis for the observed selectivity of these compounds toward the target enzyme versus other cytochrome P450s, including human drug-metabolizing P450s. | NA | {
"id": 1595,
"name": "CYP51A1",
"pos": [
109,
5
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
47,
3
]
} |
The recent observation that the mutation underlying a number of genetic diseases including fragile sites, FRAXA and FRAXE (associated with mental retardation), myotonic dystrophy, spinal and bulbar muscular atrophy (Kennedy's disease), Huntington's disease and spinocerebellar ataxia type 1 are caused by the expansion of a trinucleotide repeat sequence will lead to interest in the identification of such sequences in regions related to other diseases. | genomic_alterations | {
"id": 2481,
"name": "FRAXE",
"pos": [
116,
5
]
} | {
"id": "C0025362",
"name": "Mental Retardation",
"pos": [
139,
18
]
} |
Together, our study suggests an auto-regulatory feedback loop between Cip2a and miR-301a and this auto-regulatory loop might play an important role in TNBC progression. | biomarker | {
"id": 57650,
"name": "CIP2A",
"pos": [
70,
5
]
} | {
"id": "C4722518",
"name": "Triple-Negative Breast Carcinoma",
"pos": [
151,
4
]
} |
These results thus implicate BRCA2 in the regulation of the centrosome cycle, and provide new insight into the aneuploid nature of many breast cancers. | NA | {
"id": 675,
"name": "BRCA2",
"pos": [
29,
5
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
111,
9
]
} |
Involvement of constitutive androstane receptor in liver hypertrophy and liver tumor development induced by triazole fungicides. | therapeutic | {
"id": 9970,
"name": "NR1I3",
"pos": [
15,
32
]
} | {
"id": "C4279912",
"name": "Chemically-Induced Liver Toxicity",
"pos": [
57,
11
]
} |
Sequestration of cytochrome c from the mitochondria to the cytosol, increased caspase 3 activity, and translocation of the apoptosis-inducing factor from mitochondria to cell nuclei were also demonstrated in TASK-3 knockdown cells. | NA | {
"id": 51305,
"name": "KCNK9",
"pos": [
208,
6
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
102,
13
]
} |
Recombinant CFHR1 prevented hemolysis of sheep erythrocytes caused by patient plasma containing anti-factor H IgG, but it did not inhibit red cell lysis caused by a factor H mutation (W1183 L) in the short consensus repeat 20 domain. | NA | {
"id": 3078,
"name": "CFHR1",
"pos": [
12,
5
]
} | {
"id": "C0019054",
"name": "Hemolysis (disorder)",
"pos": [
28,
9
]
} |
Taq 1B polymorphism of cholesterol ester transfer protein (CETP) gene contributes to the development of atherosclerosis, whereas haplotypes of APOA5, APOC3, APOC4, and APOC5 genes are in the same cluster and are independently associated with high plasma triglyceride level, CAD and T2DM. | genomic_alterations | {
"id": 1071,
"name": "CETP",
"pos": [
59,
4
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
104,
15
]
} |
Our results showed that combined treatment of MSC-TRAIL and CBX enhanced glioma cell death, especially in three primary human glioma isolates, of which two of those are marginally sensitive to TRAIL. | NA | {
"id": 10951,
"name": "CBX1",
"pos": [
60,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
126,
6
]
} |
The reversion-inducing-cysteine-rich protein with Kazal motifs (RECK) down-regulation has been confirmed in numerous human cancers and is clinically associated with metastasis. | NA | {
"id": 1465,
"name": "CSRP1",
"pos": [
23,
21
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
165,
10
]
} |
Analysis of the BRCA1 and BRCA2 genes in sporadic meningiomas. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
16,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
41,
8
]
} |
As for FcγRIIIb polymorphism, skewing did not differ significantly between patients and controls, however the genotype FCGR3B*02*02 was associated with susceptibility to arthritis (p = 0.02) and malar rash (p = 0.03), but no association with nephritis was found. | NA | {
"id": 2215,
"name": "FCGR3B",
"pos": [
119,
6
]
} | {
"id": "C0277942",
"name": "Butterfly rash",
"pos": [
195,
10
]
} |
Our data demonstrate a prosurvival role of adhesion and an antisurvival role of ILK upon irradiation. | NA | {
"id": 3611,
"name": "ILK",
"pos": [
80,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
43,
8
]
} |
Of 339 sporadic patients with PTC from the TCGA study, 62 (18%) had germline RASAL1 variants predicted to be deleterious. | NA | {
"id": 8437,
"name": "RASAL1",
"pos": [
77,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
7,
8
]
} |
These findings indicate that adenomas might be less important in the cancer development in the group of families with BRAF-V600E mutations and indirectly support a previous hypothesis that tumors might develop through the hyperplastic polyp-serrated adenoma pathway. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
118,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
189,
6
]
} |
Consistent PLAG1 and HMGA2 abnormalities distinguish carcinoma ex-pleomorphic adenoma from its de novo counterparts. | NA | {
"id": 5324,
"name": "PLAG1",
"pos": [
11,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
27,
13
]
} |
Biopsy specimens (bone marrow and gastrointestinal mucosa) of a 69 year old woman with mild blood lymphocytosis and a history of urticaria pigmentosa-like skin lesions that had disappeared a few years earlier, were investigated immunohistochemically using antibodies against CD3, CD5, CD20, CD23, CD25, CD34, CD117, chymase, and tryptase. | NA | {
"id": 947,
"name": "CD34",
"pos": [
303,
4
]
} | {
"id": "C0024282",
"name": "Lymphocytosis",
"pos": [
98,
13
]
} |
Hyperprolactinemia inhibits development of Leydig cell tumors in aging Fischer rats. | therapeutic | {
"id": 5617,
"name": "PRL",
"pos": [
5,
9
]
} | {
"id": "C0023601",
"name": "Leydig Cell Tumor",
"pos": [
43,
18
]
} |
Mice were injected with anti-IL-25, IL-33 receptor, and/or TSLP mAbs before initial oral gavage with MCT/EW to suppress FA development; treatment with the same mAbs was initiated after FA development to suppress established FA. | biomarker | {
"id": 56005,
"name": "MYDGF",
"pos": [
29,
5
]
} | {
"id": "C4554344",
"name": "IgE-mediated food allergy",
"pos": [
120,
2
]
} |
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