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|---|---|---|---|
In the ICU cohort, GLP-1 plasma levels correlated with markers of inflammation and disease severity. | NA | {
"id": 2641,
"name": "GCG",
"pos": [
19,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
66,
12
]
} |
We examined the expression of matrilysin mRNA in sporadic and hereditary colorectal adenomas to clarify the role of matrilysin in tumorigenesis. | NA | {
"id": 4316,
"name": "MMP7",
"pos": [
116,
10
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
130,
13
]
} |
Our findings indicate that chronic insulin infusion exacerbates hyperinsulinemia while normalizing blood pressure and the gene expressions of AT1R in insulin-resistant fructose-fed rats, suggesting that endogenous hyperinsulinemia caused by insulin resistance is associated with the development of hypertension, whereas exogenous hyperinsulinemia attenuates hypertension probably due to amelioration of insulin resistance. | NA | {
"id": 185,
"name": "AGTR1",
"pos": [
142,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
403,
18
]
} |
Endogenous N/OFQ sustained this response because N/OFQ peptide (NOP) receptor knockout (NOP(-/-) ) mice were less susceptible to the hypokinetic action of reserpine than wild-type (NOP(+/+) ) animals. | NA | {
"id": 5368,
"name": "PNOC",
"pos": [
181,
3
]
} | {
"id": "C0086439",
"name": "Hypokinesia",
"pos": [
133,
11
]
} |
In this study, we show that a member of the heat-shock 70 family of proteins, HSPA6, is a target gene of FOXC1. | NA | {
"id": 3310,
"name": "HSPA6",
"pos": [
78,
5
]
} | {
"id": "C0036974",
"name": "Shock",
"pos": [
49,
5
]
} |
Recurrent deletions, including 9p21.3 (CDKN2A, CKDN2B, and MTAP), 11p13 (CD44), 12p13.2 (ETV6), and patient-specific abnormalities were identified. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
89,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
117,
13
]
} |
Specifically, it describes: (1) the effect of the knockout of MAO A, the principal enzyme in 5-HT degradation, (2) the association of intermale aggression with the polymorphism in the Tph2 gene encoding the key enzyme in 5-HT synthesis in the brain, tryptophan hydroxylase (TPH), and (3) the effect of selective breeding for nonaggressive behavior on 5-HT metabolism, TPH activity and 5-HT(1A) receptors in the brain. | NA | {
"id": 121278,
"name": "TPH2",
"pos": [
184,
9
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
144,
10
]
} |
Retinol-binding protein 4 (RBP4), produced by adipocytes and hepatocytes, contributes to an unfavourable lipid profile and insulin resistance, which can contribute to the development of coronary artery disease (CAD). | NA | {
"id": 5950,
"name": "RBP4",
"pos": [
27,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
123,
18
]
} |
Impact of image reconstruction methods on quantitative accuracy and variability of FDG-PET volumetric and textural measures in solid tumors. | biomarker | {
"id": 23583,
"name": "SMUG1",
"pos": [
83,
3
]
} | {
"id": "C0280100",
"name": "Solid Neoplasm",
"pos": [
127,
12
]
} |
Women harbouring inactivating mutations in luteinizing hormone (LH) beta subunit (LHB) or LH receptor (LHCGR) genes have similar clinical manifestations characterized by female external genitalia, spontaneous breast and pubic hair development at puberty, and normal or late menarche followed by oligo-amenorrhea and infertility. | NA | {
"id": 3973,
"name": "LHCGR",
"pos": [
103,
5
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
316,
11
]
} |
The N-terminal region of IT4-VAR19 comprising a full-length DC8 cassette as well as the single EPCR binding CIDRα1.1 domain were also produced, and their immune recognition (IgG) was assessed using plasma samples from Beninese children presenting acute mild malaria, severe malaria or cerebral malaria at the time of their admission to the clinic, and from convalescent-phase plasma collected 30 days after anti-malarial treatment. | NA | {
"id": 25936,
"name": "NSL1",
"pos": [
60,
3
]
} | {
"id": "C0024534",
"name": "Malaria, Cerebral",
"pos": [
285,
16
]
} |
In some patients, chemotherapy (CHT) of cancer can result in pulmonary inflammation and fibrosis, eventually leading to respiratory insufficiency. | NA | {
"id": 60482,
"name": "SLC5A7",
"pos": [
32,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
40,
6
]
} |
[Effectiveness of urokinase used in combination with batroxobin (DF-521) in rat model of focal cerebral ischemia-reperfusion]. | therapeutic | {
"id": 5328,
"name": "PLAU",
"pos": [
18,
9
]
} | {
"id": "C0740376",
"name": "Middle Cerebral Artery Thrombosis",
"pos": [
95,
17
]
} |
We show here that osimertinib suppresses glycolysis in parental EGFR-mutant lung adenocarcinoma lines, but has not in osimertinib-resistant cell lines. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
64,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
76,
19
]
} |
As for cutaneous melanomas, a BRAF mutation was detected in 8 (62%) of the tumors arising in sun-exposed sites but in none (0%) of vulvar melanomas. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
30,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
75,
6
]
} |
Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. | biomarker | {
"id": 207,
"name": "AKT1",
"pos": [
18,
3
]
} | {
"id": "C0016057",
"name": "Fibrosarcoma",
"pos": [
22,
4
]
} |
Nicotine abstinent subjects, but not nicotine-naive controls, experienced a 35% appetite suppression and a 25% weight gain reduction following acute and chronic administration, respectively, of CRF-BP ligand inhibitor. | NA | {
"id": 1393,
"name": "CRHBP",
"pos": [
194,
6
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
111,
11
]
} |
No significant correlation between clinical features with cytogenetic abnormalities was observed, although patients with IGH translocations were more likely to exhibit papilledema (P = 0.018). | NA | {
"id": 3492,
"name": "IGH",
"pos": [
121,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
58,
25
]
} |
None of the melanomas harbored NRAS or KIT mutations. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
31,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
12,
9
]
} |
These results suggest that intestinal HIF-2α could be a viable target for hepatic steatosis therapy. | biomarker | {
"id": 2034,
"name": "EPAS1",
"pos": [
38,
6
]
} | {
"id": "C0015695",
"name": "Fatty Liver",
"pos": [
74,
17
]
} |
Embigin, regulated by HOXC8, plays a suppressive role in breast tumorigenesis. | NA | {
"id": 133418,
"name": "EMB",
"pos": [
0,
7
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
64,
13
]
} |
A stepwise regression procedure identified that only rs880663 was independently associated with mammographic density which decreased by 1.89% per-minor allele (P(ACT) = 0.008). | NA | {
"id": 11332,
"name": "ACOT7",
"pos": [
162,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
11,
10
]
} |
Inhibition of nuclear translocation of apoptosis-inducing factor is an essential mechanism of the neuroprotective activity of pigment epithelium-derived factor in a rat model of retinal degeneration. | NA | {
"id": 5176,
"name": "SERPINF1",
"pos": [
126,
33
]
} | {
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
178,
20
]
} |
The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period. | NA | {
"id": 8898,
"name": "MTMR2",
"pos": [
31,
5
]
} | {
"id": "C0016506",
"name": "Foot Deformities",
"pos": [
108,
16
]
} |
Our data indicates a significant role of PTCH1 and SUFU in the pathogenesis of KCOT, and the genotype-oriented subgroups constitute entities with different potential aggressiveness. | NA | {
"id": 51684,
"name": "SUFU",
"pos": [
51,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
166,
14
]
} |
Analysis revealed no statistically significant associations between CAG repeat polymorphism in the AR gene and improvement of disease activity parameters: erythrocyte sedimentation rate, serum C-reactive protein, patient's global assessment of disease activity on a visual analog scale (VAS), disease activity score of 28 joints (DAS28), and swollen and tender joint count. | NA | {
"id": 367,
"name": "AR",
"pos": [
99,
7
]
} | {
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
155,
30
]
} |
SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis. | genomic_alterations | {
"id": 55315,
"name": "SLC29A3",
"pos": [
0,
7
]
} | {
"id": "C0037274",
"name": "Dermatologic disorders",
"pos": [
96,
10
]
} |
We investigated the role of H. pylori in the phosphorylation of RKIP as a possible mechanism to downregulate pro-survival signals in gastric adenocarcinoma. | NA | {
"id": 5037,
"name": "PEBP1",
"pos": [
64,
4
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
133,
22
]
} |
In addition, conditioned media from 293 cells transfected with the OSF cDNA clone enhanced the stimulatory effects of 1,25-(OH)2D3 on bone resorption in the fetal rat long bone assay. | NA | {
"id": 26578,
"name": "OSTF1",
"pos": [
67,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
134,
15
]
} |
SK1 positivity and high expression were associated with 5-year survival; the HR was 1.86 (95% confidence interval [CI], 1.18-2.94) for breast cancer, 1.58 (1.08-2.31) for gastric cancer, and 2.68 (2.10-3.44) for other cancers; the total cancer HR was 2.21 (95% CI, 1.83-2.67; P < 0.00001). | NA | {
"id": 3780,
"name": "KCNN1",
"pos": [
0,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
237,
6
]
} |
The level of soluble CD40 ligand was slightly correlated with measured levels of troponin T (r=0.21, p<0.05), and the increased soluble CD40L levels (>8.0 ng/ml) were associated with higher risk for AMI, sudden death and recurrent angina. | NA | {
"id": 7138,
"name": "TNNT1",
"pos": [
81,
10
]
} | {
"id": "C0011071",
"name": "Sudden death",
"pos": [
204,
12
]
} |
Dopa-responsive dystonia (DRD) is an extrapyramidal disorder caused by deficit of 5,6,7,8-tetrahydrobiopterin (BH4), cofactor for tyrosine hydroxylase (TH). | NA | {
"id": 7054,
"name": "TH",
"pos": [
130,
20
]
} | {
"id": "C0015371",
"name": "Extrapyramidal Disorders",
"pos": [
37,
23
]
} |
Deletion cartography around the D13S25 locus in B cell chronic lymphocytic leukemia and accurate mapping of the involved tumor suppressor gene. | genomic_alterations | {
"id": 8101,
"name": "CLLS2",
"pos": [
32,
6
]
} | {
"id": "C1868683",
"name": "B-CELL MALIGNANCY, LOW-GRADE",
"pos": [
48,
35
]
} |
Methylation-specific polymerase chain reaction (MSP) targeting promoter hypermethylation of the glutathione S transferase P1 gene (GSTP1), as the most frequent DNA alteration in prostatic carcinoma, was used for the molecular detection of cell-bound and cell-free prostate tumor DNA in various human bodily fluids. | genomic_alterations | {
"id": 27306,
"name": "HPGDS",
"pos": [
96,
25
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
264,
14
]
} |
We describe changes in HIV-1 viral load, CD4+ T cell percentage, and incidence of drug resistance and factors associated with drug resistance for 134 children receiving antiretroviral therapy (ART) for approximately 1 year in Abidjan. | NA | {
"id": 920,
"name": "CD4",
"pos": [
41,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
29,
10
]
} |
The MIB-1 fraction in most signatures was less than 5%, and ranged from 50 to 90% in carcinomas. | biomarker | {
"id": 57534,
"name": "MIB1",
"pos": [
4,
5
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
85,
10
]
} |
Moreover, metastasis to the lung was observed in a few cases following development of mammary tumors in p75 CUX1 transgenic mice. | biomarker | {
"id": 8570,
"name": "KHSRP",
"pos": [
104,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
94,
6
]
} |
Myotonic dystrophy type 1 (DM1) is a dominantly inherited neurodegenerative disease caused by a CTG repeat expansion close to the DMPK gene. | genomic_alterations | {
"id": 1760,
"name": "DMPK",
"pos": [
130,
4
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
58,
25
]
} |
Here, we profile the newly FDA-approved LONHALA MAGNAIR (glycopyrrolate [GLY]/eFlow® Closed System [CS]; 25 mcg twice daily), a nebulized long-acting muscarinic antagonist (LAMA) for the long-term maintenance treatment of COPD, including chronic bronchitis and/or emphysema. | genomic_alterations | {
"id": 260431,
"name": "COPD",
"pos": [
222,
4
]
} | {
"id": "C0034067",
"name": "Pulmonary Emphysema",
"pos": [
264,
9
]
} |
A 20-year-old man with mild myopathy, external ophthalmoparesis, epilepsy, and diffuse white matter hyperintensity in the brain on magnetic resonance imaging had partial merosin deficiency in muscle and absent merosin in the endoneurium. | NA | {
"id": 3908,
"name": "LAMA2",
"pos": [
210,
7
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
23,
4
]
} |
We found here that expression of N19S-SOD1, a novel SOD1 mutant originally found in a sporadic ALS patient, induces lower grade death in NSC34 cells than FALS-linked mutant SOD1. | NA | {
"id": 6647,
"name": "SOD1",
"pos": [
173,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
86,
8
]
} |
We concluded that there is a higher expression of ERM/ETV5 in early stages of EEC, whereas there seems to be a RUNX1/AML1 translocation from cytoplasm to nucleus in EEC neoplastic transformation. | NA | {
"id": 861,
"name": "RUNX1",
"pos": [
117,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
169,
25
]
} |
RESULTS Patients with WHO Grade II glioma and connection of the resection cavity to CSF who did not undergo radiotherapy did not regularly develop this sign and were excluded from further analysis. | biomarker | {
"id": 3918,
"name": "LAMC2",
"pos": [
84,
3
]
} | {
"id": "C1515091",
"name": "Surgically-Created Resection Cavity",
"pos": [
64,
16
]
} |
By contrast to DIA1, DIA1R was found exclusively in vertebrates, with an origin coinciding with the whole-genome duplication events occurring early in the vertebrate lineage, and the evolution of the more complex vertebrate nervous system. | NA | {
"id": 1727,
"name": "CYB5R3",
"pos": [
15,
4
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
224,
14
]
} |
Previously we found that rat mesangial cells express 3CH134/CL100 protein-tyrosine phosphatase (PTPase) in response to reactive oxygen intermediates (ROIs), and we now extend these studies to glomerulonephritis (GN), where ROI have been demonstrated to play a role. | NA | {
"id": 1843,
"name": "DUSP1",
"pos": [
60,
5
]
} | {
"id": "C0017658",
"name": "Glomerulonephritis",
"pos": [
192,
18
]
} |
Here, we examined differences in the amplitude of reward positivity-a component of the human ERP associated with learning-between control and hangover participants. | genomic_alterations | {
"id": 84650,
"name": "EBPL",
"pos": [
93,
3
]
} | {
"id": "C0221100",
"name": "Hangover from any Alcohol or Other Drugs substance",
"pos": [
142,
8
]
} |
In contrast to neuronal Socs3 knockout mice, rats with SOCS3 knockdown limited to the MBH showed increased body weight gain, larger amounts of white adipose tissue, and higher leptin concentrations at the end of the experiment. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
55,
5
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
107,
16
]
} |
From 188 (6.8%) individuals that were thick film-positive, a simple random sub-set of 95 P. falciparum infections were genotyped for DHFR and DHPS antifolate resistance mutations, using nested PCR and allele-specific restriction enzyme digestion. | NA | {
"id": 1725,
"name": "DHPS",
"pos": [
142,
4
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
103,
10
]
} |
We report cytogenetic, fluorescence in situ hybridization (FISH), and molecular analysis in a case of Ph-negative chronic myelogenous leukemia patient with ABL/BCR fusion gene on chromosome 9 and a disparate FISH signal pattern using two commercially available bcr/abl probes (Vysis, Inc. and Oncor, Inc.). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
208,
4
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
114,
28
]
} |
As the current clinical and laboratory work-up of MTS is geared toward patients harboring a germline mutation in MSH2 and/or MLH1, an additional aim was to provide a scaffolding for the work-up of a patient presenting with an isolated germline mutation in MSH6. | genomic_alterations | {
"id": 4436,
"name": "MSH2",
"pos": [
113,
4
]
} | {
"id": "C0796074",
"name": "MOHR-TRANEBJAERG SYNDROME",
"pos": [
50,
3
]
} |
UCP2(-/-) mice exhibited pulmonary vascular remodeling and mild PH compared with wild-type (WT) mice. | NA | {
"id": 7351,
"name": "UCP2",
"pos": [
0,
4
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
35,
19
]
} |
The translocation interrupts two genes, AML1 on chromosome 21 and ETO on chromosome 8, that are consequently fused in the der(8) chromosome to produce a novel chimeric gene and message. | NA | {
"id": 862,
"name": "RUNX1T1",
"pos": [
66,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
13
]
} |
However, these inhibitors do not prevent the release of cytochrome c or the development of renal tubular dysfunction. | NA | {
"id": 54205,
"name": "CYCS",
"pos": [
56,
12
]
} | {
"id": "C0151747",
"name": "Renal tubular disorder",
"pos": [
91,
25
]
} |
In 5'-RACE experiments on RNA extracted from formalin-fixed tissue we identified the androgen-upregulated gene ACSL3 as a new 5'-translocation partner of ETV1. | NA | {
"id": 2115,
"name": "ETV1",
"pos": [
154,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
129,
13
]
} |
Recent findings have provided insights into the pathophysiology and mechanisms of ischemic stroke, complementing the traditional glutamate hypothesis: the molecular interaction between PSD95 and GluN2B has been identified as a culprit in stroke-mediated excitotoxicity, leading to the discovery of NA-1, a peptide that disrupts that interaction, as a potent neuroprotective agent for the treatment of acute stroke. | biomarker | {
"id": 2904,
"name": "GRIN2B",
"pos": [
195,
6
]
} | {
"id": "C0751956",
"name": "Acute Cerebrovascular Accidents",
"pos": [
401,
12
]
} |
In consideration of the effect of adenosine deaminase (ADA) and ACP1 (a low-molecular-weight protein tyrosine phosphatase) on T-cell receptor activity, we have analysed the joint distribution of these polymorphisms in a sample of women with primary repeated spontaneous abortion (RSA) to search for possible interactive effects on susceptibility to RSA. | NA | {
"id": 100,
"name": "ADA",
"pos": [
55,
3
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
258,
20
]
} |
When subjected to I/R injury by transient middle cerebral artery occlusion (tMCAO), Smad1 cKO mice showed enhanced neuronal survival and improved neurological recovery at 7 days post-stroke. | NA | {
"id": 2617,
"name": "GARS1",
"pos": [
84,
5
]
} | {
"id": "C0740391",
"name": "Middle Cerebral Artery Occlusion",
"pos": [
42,
32
]
} |
To further characterize this heterogeneous group of tumors we have performed a comprehensive analysis of copy number alterations and CRTC1-MAML2 fusion status in a series of 28 mucoepidermoid carcinomas. | genomic_alterations | {
"id": 84441,
"name": "MAML2",
"pos": [
139,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
52,
6
]
} |
Analysis of variance (ANOVA) of G(2) radiosensitivity in the pooled sample, as well as family-based association test (FBAT) of the family-wise data, showed sporadic suggestions of associations between G(2) radiosensitivity and polymorphisms at two sites (the Thr241Met SNP site in the XRCC3 gene of the homologous recombinational pathway by ANOVA, and the Ser326Cys site in the hOGG1 gene of the BER pathway by FBAT analysis), but neither of these remained significant after multiple-test adjustment. | NA | {
"id": 7517,
"name": "XRCC3",
"pos": [
285,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
156,
8
]
} |
Increased copy number of ERBB2 was also associated with high tumor grade, greater patient age, large residual tumor size, high proliferation index, aberrant p53 and negative progesterone receptor status. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
157,
3
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
101,
14
]
} |
Etiologies of AKI were infection (47.32%), rejection (26.78%), calcineurin inhibitor (CNI) toxicity (13.39%), and recurrence of native kidney disease (NKD) (4.46%). | biomarker | {
"id": 84618,
"name": "NT5C1A",
"pos": [
86,
3
]
} | {
"id": "C0022660",
"name": "Kidney Failure, Acute",
"pos": [
14,
3
]
} |
We found that conventional natural killer (NK) cells (NCR1(+)NK1.1(+)CD127(-)RORγt(-)) were the predominant IL-22-producers in the BAL, trachea, and lung tissues. | NA | {
"id": 53342,
"name": "IL17D",
"pos": [
108,
5
]
} | {
"id": "C0040580",
"name": "Tracheal Diseases",
"pos": [
136,
7
]
} |
We studied a family with autosomal-dominant Brachydactyly Type E (BDE) and identified a t(8;12)(q13;p11.2) translocation with breakpoints (BPs) upstream of PTHLH on chromosome 12p11.2 and a disrupted KCNB2 on 8q13. | NA | {
"id": 9312,
"name": "KCNB2",
"pos": [
200,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
107,
13
]
} |
Patterns of pAKT and pERK1/2 staining (predominant PI3K/AKT, predominant MAPK and concomitant activation) were associated with sensitivity to pathway inhibition and partially with the mutational status in cell lines and corresponding xenograft tumors. | genomic_alterations | {
"id": 5294,
"name": "PIK3CG",
"pos": [
51,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
244,
6
]
} |
This phenomenon may play an important role in post-infarction patients, particularly with reduced exercise tolerance and elevated BNP levels. | NA | {
"id": 4879,
"name": "NPPB",
"pos": [
130,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
51,
10
]
} |
Here, we also report that miR-200a, miR-200b, miR-203 accretes the sensitivity of MDAMB-231 cells to the histone deacetylase inhibitor (HDACi) SAHA and miR-15a sensitized breast cancer cells to the chemotherapeutic drug cisplatin leading to apoptosis. | biomarker | {
"id": 406986,
"name": "MIR203A",
"pos": [
46,
7
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
171,
13
]
} |
We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). | NA | {
"id": 8694,
"name": "DGAT1",
"pos": [
234,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
623,
18
]
} |
Knock-down of NF-kappaB expression inhibited the induction of CXCR4 expression in response to HGF, but not to hypoxia. | NA | {
"id": 3082,
"name": "HGF",
"pos": [
94,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
110,
7
]
} |
The presented study, using a human squamous cell lung carcinoma cell line, demonstrated that introduction of an antisense Ku70 nucleic acid made the cells more radio- and chemosensitive than the parental cells. | NA | {
"id": 2547,
"name": "XRCC6",
"pos": [
122,
4
]
} | {
"id": "C0149782",
"name": "Squamous cell carcinoma of lung",
"pos": [
35,
28
]
} |
Melanoma differentiation associated gene-7 (mda-7)/Interleukin-24 (IL-24) (mda-7/IL-24) displays cancer-selective apoptosis induction when delivered via a replication-incompetent adenovirus (Ad.mda-7). | NA | {
"id": 11009,
"name": "IL24",
"pos": [
81,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
179,
10
]
} |
Efficacy of digital CBT for insomnia to reduce depression across demographic groups: a randomized trial. | biomarker | {
"id": 611,
"name": "OPN1SW",
"pos": [
20,
3
]
} | {
"id": "C0917801",
"name": "Sleeplessness",
"pos": [
28,
8
]
} |
We investigated the inhibitory effects of the Gemini vitamin D analog BXL0124, the synthetic triterpenoid CDDO-Im and the combination on the tumorigenesis of ErbB2-overexpressing breast cancer. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
159,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
142,
13
]
} |
ATGL, LPL, and HSL mRNA expression was measured in 85 paired samples of omental and subcutaneous adipose tissue in normal glucose tolerant lean and obese individuals. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
6,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
148,
5
]
} |
In the screening stage, parents of preadolescents were asked to fill in the Child Behavior Checklist (CBCL), whereas in the second stage preadolescents and their parents were administered the Development and Well Being Assessment for the assessment of mental disorders together with the Strengths and Difficulties Questionnaire and two scales (C-GAS and HoNOSCA) designed to evaluate the functioning of the preadolescent in different areas. | biomarker | {
"id": 2520,
"name": "GAST",
"pos": [
346,
3
]
} | {
"id": "C0004936",
"name": "Mental disorders",
"pos": [
252,
16
]
} |
Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-gamma receptor mutation. | genomic_alterations | {
"id": 3458,
"name": "IFNG",
"pos": [
98,
16
]
} | {
"id": "C0026918",
"name": "Mycobacterium Infections",
"pos": [
53,
24
]
} |
RNA expression profiling identified several hypoxia-responsive lncRNAs, including the long intergenic noncoding RNA, regulator of reprogramming (linc-RoR), which is also increased in expression in malignant liver cancer cells. | NA | {
"id": 100885779,
"name": "LINC-ROR",
"pos": [
145,
8
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
44,
7
]
} |
Recently, EZH2 mutations have been reported at Y641, A677, and A687 in non-Hodgkin lymphoma. | genomic_alterations | {
"id": 2146,
"name": "EZH2",
"pos": [
10,
4
]
} | {
"id": "C0024305",
"name": "Lymphoma, Non-Hodgkin",
"pos": [
71,
20
]
} |
Risk predisposition for Crohn disease: a "ménage à trois" combining IRGM allele, miRNA and xenophagy. | genomic_alterations | {
"id": 4331,
"name": "MNAT1",
"pos": [
42,
14
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
24,
13
]
} |
Genes involved in inflammation (ALCAM, CTSB, C1S, YKL-40, MIF, SAA2), extracellular matrix remodeling (MMP9, PALLD), angiogenesis (EGFL6, leptin) and oxidative stress (AKR1C3, UCHL1, HSPB7 and NQO1) were upregulated; whereas apoptosis, signal transcription (CITED 2 and NR3C1), cell control and cell cycle-related genes were downregulated. | NA | {
"id": 268,
"name": "AMH",
"pos": [
58,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
18,
12
]
} |
Inactivation of the Dlc1 gene cooperates with downregulation of p15INK4b and p16Ink4a, leading to neoplastic transformation and poor prognosis in human cancer. | NA | {
"id": 10395,
"name": "DLC1",
"pos": [
20,
9
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
98,
25
]
} |
The t(12;21) (p13;q22) is observed in approximately 20-25% of childhood B-lineage acute lymphoblastic leukemia (ALL) cases in both Asian and Caucasian populations. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
14,
3
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
82,
28
]
} |
We report the somewhat unexpected finding that intratumoral injection of adenovirus expressing B7-1/IL-2 induces complete tumour regression in 76% of oestradiol-supplemented mice, while only 18% of the tumours regressed in the oestrogen-depleted group. | NA | {
"id": 941,
"name": "CD80",
"pos": [
95,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
73,
10
]
} |
These data reveal specific regulation of plasma miR-21 in HIV, HIV/HCV coinfection, and PAH and suggest that miR-21 may integrate complex disease-specific signaling in the setting of HIV infection. | NA | {
"id": 406991,
"name": "MIR21",
"pos": [
109,
6
]
} | {
"id": "C0275524",
"name": "Coinfection",
"pos": [
71,
11
]
} |
The peritoneal fluid CCL22 concentrations were significantly higher in epithelial ovarian cancer (EOC) patients than in patients with benign tumors-serous cystadenoma (n = 32). | NA | {
"id": 6367,
"name": "CCL22",
"pos": [
21,
5
]
} | {
"id": "C0086692",
"name": "Benign Neoplasm",
"pos": [
134,
13
]
} |
In 5 patients with sarcomatoid renal cell carcinoma, the nuclear DNA content and size were determined by flow cytometry (FCM), and the prognostic value of DNA ploidy, the percentage of S-phase cells (SPF), and the ratio of modal nuclear size with clinicopathologic behavior was analyzed. | NA | {
"id": 23541,
"name": "SEC14L2",
"pos": [
200,
3
]
} | {
"id": "C1266043",
"name": "Sarcomatoid Renal Cell Carcinoma",
"pos": [
19,
32
]
} |
The present study examined whether the combination of low enzyme-activity variants of ALDH2 and SOD2 increases the risk of hypertension in relation to alcohol consumption. | NA | {
"id": 6648,
"name": "SOD2",
"pos": [
96,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
151,
19
]
} |
Chronic exposure of human THP-1 monocytes to diabetic conditions resulted in the loss of MKP-1 protein levels, the hyperactivation of ERK and p38 in response to monocyte chemoattractant protein-1 (MCP-1), and increased monocyte adhesion and chemotaxis. | NA | {
"id": 1843,
"name": "DUSP1",
"pos": [
89,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
228,
8
]
} |
In conclusion, we suggest that HSPBAP1 aids in sustaining cell viability by maintaining AR signaling during androgen-deprived conditions. | NA | {
"id": 79663,
"name": "HSPBAP1",
"pos": [
31,
7
]
} | {
"id": "C0001175",
"name": "Acquired Immunodeficiency Syndrome",
"pos": [
39,
4
]
} |
GST polymorphism has been associated with susceptibility and clinical outcome in patients with cancer. | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
0,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
95,
6
]
} |
CDH13 polymorphisms are also associated with the prevalence and incidence of DN, and with the incidence of ESRD in these patients. | genomic_alterations | {
"id": 1012,
"name": "CDH13",
"pos": [
0,
5
]
} | {
"id": "C2316810",
"name": "Chronic kidney disease stage 5",
"pos": [
107,
4
]
} |
Fractalkine (FKN, CX3CL1), a member of the CX3 C subfamily, is induced by pro-inflammatory cytokines, while a receptor for FKN, CX3CR1, is capable of mediating both leukocyte migration and firm adhesion. | NA | {
"id": 6376,
"name": "CX3CL1",
"pos": [
18,
6
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
194,
8
]
} |
Moreover, ectopic expression of DecR1 in ErbB2/Neu-induced mammary tumor cells is sufficient to reduce levels of ErbB2/Neu expression and impair mammary tumor outgrowth. | NA | {
"id": 1666,
"name": "DECR1",
"pos": [
32,
5
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
145,
13
]
} |
Knockdown of APPL1 significantly abrogated the ability of adiponectin to inhibit lipid accumulation, SR-AI and nuclear factor-κB (NF-κB) gene expression, and Akt phosphorylation in macrophage foam cells. | NA | {
"id": 4481,
"name": "MSR1",
"pos": [
101,
5
]
} | {
"id": "C4281786",
"name": "Presence of foam cells",
"pos": [
192,
10
]
} |
Fulminant meningococcal septic shock in a boy with combined inherited properdin and protein C deficiency. | NA | {
"id": 5199,
"name": "CFP",
"pos": [
70,
9
]
} | {
"id": "C0036983",
"name": "Septic Shock",
"pos": [
24,
12
]
} |
We studied patients with CNC, who were observed for over a period of 20 years (1995-2015) for the development of both GH excess and cardiac myxomas. | biomarker | {
"id": 2688,
"name": "GH1",
"pos": [
118,
2
]
} | {
"id": "C0262929",
"name": "Myxoma of the Endocardium",
"pos": [
132,
15
]
} |
The expression level of miR-10b positively correlated with tumor size, pathological grading, clinical staging, lymph node metastasis, Her2-positivity and tumor proliferation, but was negatively associated with estrogen receptor-positivity, progesterone receptor-positivity and E-cad mRNA and protein levels. | NA | {
"id": 5241,
"name": "PGR",
"pos": [
240,
21
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
279,
3
]
} |
From these results, it is suggested that MTP can function in both rough and smooth regions of ER in human hepatoma cells. | biomarker | {
"id": 4547,
"name": "MTTP",
"pos": [
41,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
106,
8
]
} |
NGS identified potentially actionable DNA alterations that could account for resistance in patients with BRAF mutation-positive advanced melanoma who achieved a PR or CR but whose tumors later progressed. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
105,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
180,
6
]
} |
We detected a significant level of autocrine/paracrine EPO in the conditioned medium from the culture of SKBR3 breast cancer cells, particularly when the cells were cultured in hypoxia. | NA | {
"id": 2056,
"name": "EPO",
"pos": [
55,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
177,
7
]
} |
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": 4292,
"name": "MLH1",
"pos": [
115,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
148,
26
]
} |
Subsets and Splits