text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
In HD patients, beta-fibrinogen and factor VII polymorphisms affected plasma levels of fibrinogen and factor VII, respectively.
|
NA
|
{
"id": 2155,
"name": "F7",
"pos": [
102,
10
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
87,
10
]
}
|
We describe a new estimating equations approach for Cox's regression model to assess haplotype effects for survival data.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
52,
5
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
58,
10
]
}
|
NOD-like receptor family, pyrin domain containing 3 (NLRP3)-is a potential target of miR-223 and has a vital role in hepatitis infection.
|
biomarker
|
{
"id": 114548,
"name": "NLRP3",
"pos": [
53,
5
]
}
|
{
"id": "C0019158",
"name": "Hepatitis",
"pos": [
117,
9
]
}
|
Inhibition of (V600E)B-Raf or Akt3 in advanced melanoma cells in which both pathways were active reduced anchorage-independent growth and tumor development in a cooperatively acting manner.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
21,
5
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
138,
5
]
}
|
TECPR2: a new autophagy link for neurodegeneration.
|
NA
|
{
"id": 9895,
"name": "TECPR2",
"pos": [
0,
6
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
33,
17
]
}
|
Seventeen single-nucleotide polymorphisms in CR1 were genotyped in 477 Thai patients who had Plasmodium falciparum malaria (203 had mild malaria, 165 had noncerebral severe malaria, and 109 had cerebral malaria).
|
NA
|
{
"id": 1378,
"name": "CR1",
"pos": [
45,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
132,
4
]
}
|
Our aim is to investigate how placement patterns influence the ADC estimation in intracranial tumors.
|
biomarker
|
{
"id": 339896,
"name": "GADL1",
"pos": [
63,
3
]
}
|
{
"id": "C1527390",
"name": "Neoplasms, Intracranial",
"pos": [
81,
19
]
}
|
MRI demonstrated variable, asymmetrical levator palpebrae superioris and superior rectus EOM atrophy that correlated with blepharoptosis, deficient supraduction, and small orbital motor nerves.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
0,
3
]
}
|
{
"id": "C0333641",
"name": "Atrophic",
"pos": [
93,
7
]
}
|
For both M1 and M28 strains, more than 25% of the GAS genes required for necrotizing myositis encode known or putative transporters.
|
genomic_alterations
|
{
"id": 79447,
"name": "PAGR1",
"pos": [
50,
3
]
}
|
{
"id": "C3715147",
"name": "Necrotising myositis",
"pos": [
73,
20
]
}
|
Overexpression of HO-1 in a subset of thyroid cancers is associated with tumour aggressiveness and BRAF V600E expression.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
99,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
73,
6
]
}
|
Previously, we reported that COX-1SV mRNA is differentially expressed in the ageing stomach.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
29,
3
]
}
|
{
"id": "C0001811",
"name": "Aging",
"pos": [
77,
6
]
}
|
In that study, a single nucleotide polymorphism (SNP) (rs3106653) in the KCNJ3 (potassium inwardly rectifying channel, subfamily J, member 3) gene located at 2q24.1 showed association with schizophrenia in two independent sample sets.
|
NA
|
{
"id": 2921,
"name": "CXCL3",
"pos": [
132,
8
]
}
|
{
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
189,
13
]
}
|
Using Agilent mouse TOX oligonucleotide microarrays, we analysed the gene expression profiles in three widely used models of experimental colitis: 2,4,6-trinitrobenzene sulphonic acid, dextran sodium sulfate and CD4CD45RB transfer and looked for overlapping gene expression in these models.
|
NA
|
{
"id": 9760,
"name": "TOX",
"pos": [
20,
3
]
}
|
{
"id": "C0009319",
"name": "Colitis",
"pos": [
138,
7
]
}
|
Our study further revealed a huge difference in electrophysiological function between SCN1A and SCN3A mutations in the pore region; this might explain the more common SCN1A mutations detected in patients with epilepsy and the more severe phenotypes associated with these mutations.
|
genomic_alterations
|
{
"id": 6328,
"name": "SCN3A",
"pos": [
96,
5
]
}
|
{
"id": "C0014544",
"name": "Epilepsy",
"pos": [
209,
8
]
}
|
The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.
|
NA
|
{
"id": 4914,
"name": "NTRK1",
"pos": [
156,
5
]
}
|
{
"id": "C0152027",
"name": "Sensory Disorders",
"pos": [
58,
16
]
}
|
Two common LRRK2 variants, R1398H and N551K, have been shown to be protective in multiple PD cohorts.
|
genomic_alterations
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
11,
5
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
90,
2
]
}
|
In contrast to the effects of the Bcr(64-413) adenovirus, the beta-GAL adenovirus, despite infecting both types of cells, did not block growth or increase cell-cell clumping of Bcr-Abl-positive and -negative hematopoietic cells.
|
NA
|
{
"id": 51083,
"name": "GAL",
"pos": [
67,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
71,
10
]
}
|
In this study, we generated GATA-1 promoter-driven Runx1 transgenic (Tg) mice, which showed a transient mild increase of megakaryocyte marker-positive myeloid cells but no spontaneous leukemia.
|
NA
|
{
"id": 2623,
"name": "GATA1",
"pos": [
28,
6
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
104,
4
]
}
|
Distinct dominantly inherited mutations in Cx31 cause the skin disease erythrokeratoderma variabilis (EKV) and hearing loss with or without neuropathy.
|
genomic_alterations
|
{
"id": 2707,
"name": "GJB3",
"pos": [
43,
4
]
}
|
{
"id": "C0432330",
"name": "Erythrokeratoderma",
"pos": [
71,
18
]
}
|
In conclusion, UDCA switches oxaliplatin-induced necrosis to apoptosis via inhibition of ROS production and activation of the p53-caspase 8 pathway in HepG2 cells.
|
NA
|
{
"id": 841,
"name": "CASP8",
"pos": [
130,
9
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
49,
8
]
}
|
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
|
genomic_alterations
|
{
"id": 2332,
"name": "FMR1",
"pos": [
166,
30
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
70,
26
]
}
|
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1.
|
NA
|
{
"id": 10642,
"name": "IGF2BP1",
"pos": [
153,
7
]
}
|
{
"id": "C0001125",
"name": "Acidosis, Lactic",
"pos": [
89,
15
]
}
|
In vivo, the enforced expression of recombinant PR39 elevated the level of HIF-1α under hypoxic conditions and decreased the size of the infarcted areas by upregulating the expression of HIF-1α in the areas surrounding the infarct area.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
187,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
88,
7
]
}
|
N-cadherin-positive patients were younger, had elevated α-fetoprotein, and had no hepatolithiasis.
|
NA
|
{
"id": 1000,
"name": "CDH2",
"pos": [
0,
10
]
}
|
{
"id": "C0574143",
"name": "Liver calculus",
"pos": [
82,
15
]
}
|
Even if the tumor volume was low in biopsy samples, VASH1 density reflected the grade of malignancy throughout the prostate.
|
biomarker
|
{
"id": 22846,
"name": "VASH1",
"pos": [
52,
5
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
89,
10
]
}
|
To determine whether the LIMK2/cofilin pathway, the downstream effectors of ROCK1, was involved in ED and corporal fibrosis following bilateral CN injury in male rats.
|
NA
|
{
"id": 3985,
"name": "LIMK2",
"pos": [
25,
5
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
115,
8
]
}
|
Under hypoxic conditions, HUVECs transfected with small interfering RNA of RhoA and ROCK2 exhibited decreased levels of HIF-1alpha protein compared with nontargeted small interfering RNA transfectants, whereas HIF-1alpha mRNA levels were not altered.
|
NA
|
{
"id": 9475,
"name": "ROCK2",
"pos": [
84,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
6,
7
]
}
|
We compared the inducible NO synthase (NOS2) expression in the liver of patients with chronic viral hepatitis with that of both nonviral liver disease and histologically normal liver.
|
NA
|
{
"id": 339345,
"name": "NANOS2",
"pos": [
39,
4
]
}
|
{
"id": "C0023895",
"name": "Liver diseases",
"pos": [
137,
13
]
}
|
MGAT2 deficiency increased energy expenditure and prevented these mice from gaining excess weight.
|
NA
|
{
"id": 4247,
"name": "MGAT2",
"pos": [
0,
5
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
91,
6
]
}
|
In this study, we found co-infection of cardiomyocytes with adenoviral vectors expressing MKK7 and GADD45B could counteract the characteristic hypertropic responses, including an increase in cell size and elevated atrial natriuretic factor (ANP) expression which induced by overexpression of MKK7.
|
NA
|
{
"id": 4878,
"name": "NPPA",
"pos": [
241,
3
]
}
|
{
"id": "C0275524",
"name": "Coinfection",
"pos": [
24,
12
]
}
|
The human Lgl polarity gene, Hugl-2, induces MET and suppresses Snail tumorigenesis.
|
NA
|
{
"id": 4233,
"name": "MET",
"pos": [
45,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
70,
13
]
}
|
Pre-treatment with glycyrrhizin, as well as the PXR activator pregnenolone 16α-carbontrile (PCN), prevents the increase in plasma ALT and AST activity, multifocal necrosis and prevents an increase in a level of serum LCA level in mice, as compared with the results in the mice treated with LCA alone.
|
NA
|
{
"id": 8856,
"name": "NR1I2",
"pos": [
48,
3
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
163,
8
]
}
|
Although receptor tyrosine kinase mutations often drive oncogenic conversion and tumorigenesis, the oncogenic potential of the EPHA3 mutations in lung cancer remains unknown.
|
NA
|
{
"id": 2042,
"name": "EPHA3",
"pos": [
127,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
81,
13
]
}
|
Second, a state- or region-wide reference laboratory for MSI testing should be established to confirm abnormal or suspicious IHC test results and to exclude sporadic cases by carrying out BRAF mutation or MLH1 methylation testing.
|
NA
|
{
"id": 673,
"name": "BRAF",
"pos": [
188,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
157,
8
]
}
|
Heparin-binding epidermal-growth-factor-like growth factor (HBEGF) plays an important role in placentation, including impaired placentation, the primary defect seen in pre-eclampsia.
|
NA
|
{
"id": 1839,
"name": "HBEGF",
"pos": [
60,
5
]
}
|
{
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
168,
13
]
}
|
The present study examined pretreatment and posttreatment serum TSP and the concentrations and percentages of the major electrophoretically separated serum protein fractions in 37 major depressed subjects, of whom 29 had treatment-resistant depression (TRD), and in 29 normal controls.
|
NA
|
{
"id": 7057,
"name": "THBS1",
"pos": [
64,
3
]
}
|
{
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
241,
10
]
}
|
To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations.
|
genomic_alterations
|
{
"id": 2078,
"name": "ERG",
"pos": [
57,
3
]
}
|
{
"id": "C0339528",
"name": "X-linked retinitis pigmentosa",
"pos": [
83,
29
]
}
|
Here we present evidence suggestive of interaction with childhood maltreatment for novel loci in IL-6 (rs1818879) and CRP (rs3093077), increasing risk of depression.
|
genomic_alterations
|
{
"id": 3569,
"name": "IL6",
"pos": [
97,
4
]
}
|
{
"id": "C0344315",
"name": "Depressed mood",
"pos": [
154,
10
]
}
|
Of these, GC-II interacts with nuclear factor(s) present in the globin-expressing, erythroleukemia cell line K562, before and after hemin induction.
|
biomarker
|
{
"id": 83733,
"name": "SLC25A18",
"pos": [
10,
5
]
}
|
{
"id": "C2347748",
"name": "Adult Erythroleukemia",
"pos": [
83,
15
]
}
|
Novel inhibitors were tested for SRPK inhibition in vitro, pro-angiogenic VEGF production in RPE cells by PCR and ELISA, and for inhibition of choroidal neovascularisation in mice and rats.
|
NA
|
{
"id": 6120,
"name": "RPE",
"pos": [
93,
3
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
153,
18
]
}
|
We showed that hypoxia-induced EMT could be enhanced by addition of recombinant Wnt3a while it was repressed by β-catenin small interfering RNA.
|
NA
|
{
"id": 1499,
"name": "CTNNB1",
"pos": [
112,
9
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
15,
7
]
}
|
The formation of platelet-monocyte complexes and the detection of platelet-bound CX(3)CL1 on inflamed smooth muscle cells suggest a significant involvement of the CX(3)CL1-CX(3)CR1 axis in platelet accumulation and monocyte recruitment at sites of arterial injury in atherosclerosis.
|
NA
|
{
"id": 22859,
"name": "ADGRL1",
"pos": [
168,
3
]
}
|
{
"id": "C4553639",
"name": "Arterial Injury, CTCAE",
"pos": [
248,
15
]
}
|
Our findings show that USH1C mutations can also cause non-syndromic deafness and that some harmonin isoforms are specifically required for inner ear function.
|
NA
|
{
"id": 10083,
"name": "USH1C",
"pos": [
91,
8
]
}
|
{
"id": "C0011053",
"name": "Deafness",
"pos": [
68,
8
]
}
|
These results suggest that AD may be a potential immunosuppressant for the treatment of RA linked to metabolic disease.
|
biomarker
|
{
"id": 9370,
"name": "ADIPOQ",
"pos": [
27,
2
]
}
|
{
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
88,
2
]
}
|
We identified a CR1 promoter allele, associated with higher E-CR1 expression, that conferred protection against cerebral malaria.
|
genomic_alterations
|
{
"id": 1378,
"name": "CR1",
"pos": [
16,
3
]
}
|
{
"id": "C0024534",
"name": "Malaria, Cerebral",
"pos": [
112,
16
]
}
|
Down's syndrome with myelodysplastic syndrome showing t(7;11)(p13;p14).
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
62,
3
]
}
|
{
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
21,
24
]
}
|
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD).
|
genomic_alterations
|
{
"id": 10165,
"name": "SLC25A13",
"pos": [
48,
8
]
}
|
{
"id": "C0008372",
"name": "Intrahepatic Cholestasis",
"pos": [
130,
24
]
}
|
Prognostic impact of survivin, cyclin D1, integrin beta1, and VEGF in patients with small adenocarcinoma of stage I lung cancer.
|
biomarker
|
{
"id": 7422,
"name": "VEGFA",
"pos": [
62,
4
]
}
|
{
"id": "C2981344",
"name": "Stage I Lung Cancer AJCC v6",
"pos": [
108,
19
]
}
|
First, CDK2 activity was increased in the absence of estrogen or in the presence of estrogen antagonists tamoxifen or ICI 182780; second, amplified in breast cancer 1 (AIB1), a cancer overexpressed transcriptional coactivator, was hyperphosphorylated, which made AIB1 a better coactivator for E2F1; and third, growth factor receptor binding protein 2-associated binder 2 (Gab2) and Akt activity were increased following E2F1 overactivation, leading to a significant enhancement of cell migration and invasion.
|
genomic_alterations
|
{
"id": 8202,
"name": "NCOA3",
"pos": [
168,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
177,
6
]
}
|
SRSF3 protects mice against CCl4 -induced fibrosis and carcinogenesis and suppresses inclusion of the profibrogenic EDA exon in fibronectin 1.
|
NA
|
{
"id": 6428,
"name": "SRSF3",
"pos": [
0,
5
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
42,
8
]
}
|
Attenuation of increased secretory leukocyte protease inhibitor, matricellular proteins and angiotensin II and left ventricular remodeling by candesartan and omapatrilat during healing after reperfused myocardial infarction.
|
therapeutic
|
{
"id": 6590,
"name": "SLPI",
"pos": [
25,
38
]
}
|
{
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
202,
21
]
}
|
This study examined the association between bone mass and IL6 gene polymorphism in 198 girls with AIS.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
58,
8
]
}
|
{
"id": "C0005938",
"name": "Bone Density",
"pos": [
44,
9
]
}
|
We measured the expression of cIAP2 at mRNA and protein levels in a panel of gastric cancer cell lines and human gastric cancer tissues by semi-quantitative reverse transcriptase PCR (RT-PCR), quantitative real time PCR (qPCR), immunoblotting, and immunohistochemistry.
|
NA
|
{
"id": 330,
"name": "BIRC3",
"pos": [
30,
5
]
}
|
{
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
113,
14
]
}
|
The nucleotide substitutions in exon 4 in the patient with type 1 diabetes and that with fibrocalculous pancreatopathy occurred at codons 103 and 84 while that in exon 5 in the patient with type 1 diabetes occurred at codon 141, changing the codons from CAT to CAC, GTG to GCG, and ACT to AAT and resulting in H103H silent, V84A and T141N missense mutations, respectively.
|
genomic_alterations
|
{
"id": 71,
"name": "ACTG1",
"pos": [
282,
3
]
}
|
{
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
59,
15
]
}
|
The above phenotypes associated with Perry syndrome are improved by the removal of a copy of Drosophila TDP-43 TBPH, thus suggesting that the stagnation of axonal transport by dynactin mutations promotes TDP-43 aggregation and interferes with the dynamics of DCVs and synaptic activities.
|
genomic_alterations
|
{
"id": 23435,
"name": "TARDBP",
"pos": [
104,
6
]
}
|
{
"id": "C1868594",
"name": "Perry Syndrome",
"pos": [
37,
14
]
}
|
We have also shown that blocking the expression of L-FABP resulted in remarkable effects on apoptosis and cell proliferation of prostate cancer cell lines.
|
NA
|
{
"id": 2168,
"name": "FABP1",
"pos": [
52,
6
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
129,
15
]
}
|
Notably, the further genetic engineering of these EGFRvIII-specific NK cells with the chemokine receptor CXCR4 conferred a specific chemotaxis to CXCL12/SDF-1α secreting U87-MG glioblastoma cells.
|
NA
|
{
"id": 677775,
"name": "SCARNA5",
"pos": [
170,
3
]
}
|
{
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
177,
12
]
}
|
Osteopontin (OPN) promotes the migration and adhesion of vascular smooth muscle cells (VSMCs) through cell surface receptor, integrin beta3.
|
NA
|
{
"id": 6696,
"name": "SPP1",
"pos": [
13,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
45,
8
]
}
|
Reductions in GC and optic nerve responses amplitude (PERG: p < 0.0001, P50 and N95 components; Pattern VEP: p < 0.0001, P100) were accompanied by abnormalities of the MfVEP, primarily in central locations (ring 1: p = 0.0007; ring 2: p = 0.012).
|
NA
|
{
"id": 8874,
"name": "ARHGEF7",
"pos": [
72,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
147,
13
]
}
|
No differences were detected in ADP sensitivity between platelets from Pl(A1) homozygotes and Pl(A1)/Pl(A2) heterozygotes, in the IC(50) for RGDS inhibition of fibrinogen binding to alpha(IIb)beta(3), in the alpha(v)beta(3)-mediated adhesion of platelets to osteopontin and vitronectin, and in the phorbol ester-stimulated adhesion to fibrinogen of B lymphocytes expressing alpha(IIb)beta(3) containing either the Pl(A1) or the Pl(A2) polymorphism.
|
NA
|
{
"id": 23038,
"name": "WDTC1",
"pos": [
32,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
323,
8
]
}
|
Our findings highlight the previously unappreciated constitutive expression of CX(3)CL1 preceding tumorigenesis in ovarian epithelial cells.
|
NA
|
{
"id": 22859,
"name": "ADGRL1",
"pos": [
84,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
98,
13
]
}
|
The percentage of FGFR1 mRNA+ cells was higher in depression (CA1 and CA4) and schizophrenia (CA4) than in controls.
|
NA
|
{
"id": 762,
"name": "CA4",
"pos": [
94,
3
]
}
|
{
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
79,
13
]
}
|
DCT treatment of human colon cancer cells resulted in time-dependent, 10-fold increased MMP1 expression, and DCT-induced cell invasion was also blocked by pre-treatment with anti-MMP1 antibody.
|
NA
|
{
"id": 1638,
"name": "DCT",
"pos": [
109,
3
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
23,
12
]
}
|
Secreted HMGB1 originates from endothelial cells, by neointimal foam cells, and also smooth muscle cells (SMCs).
|
NA
|
{
"id": 3146,
"name": "HMGB1",
"pos": [
9,
5
]
}
|
{
"id": "C4281786",
"name": "Presence of foam cells",
"pos": [
64,
10
]
}
|
Expression and distribution of COX messenger RNA (mRNA) and protein were studied in sural nerve biopsies, serum, and CSF samples from patients with Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), or, for comparison, with vasculitic neuropathy (VN), which is a inflammatory nondemyelinating disorder, and noninflammatory neuropathies (NIN) using RT-PCR, immunohistochemistry, and immunoblotting.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
31,
3
]
}
|
{
"id": "C0393819",
"name": "Polyradiculoneuropathy, Chronic Inflammatory Demyelinating",
"pos": [
179,
57
]
}
|
When phosphorylation is blocked, IkappaBalpha remains intact, thereby blocking NF-kappaB translocation to the nucleus and subsequent activation of antiapoptotic genes that cause TNF-alpha insensitivity.
|
NA
|
{
"id": 4792,
"name": "NFKBIA",
"pos": [
33,
12
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
89,
13
]
}
|
Resistin is a novel cysteine-rich protein that plays a role in the development of insulin resistance and atherosclerosis in rodents, while its role in humans is unclear.
|
NA
|
{
"id": 1465,
"name": "CSRP1",
"pos": [
20,
21
]
}
|
{
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
105,
15
]
}
|
In summary, the present study firstly demonstrated that DNMT1 mediated promoter methylation is a mechanism of miRNA suppression in melanoma and revealed a new tumor suppressor role of the miR-211 by targeting RAB22A in melanoma.
|
biomarker
|
{
"id": 406993,
"name": "MIR211",
"pos": [
188,
7
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
159,
5
]
}
|
To understand the tumor biology of GBC at the molecular level, we examined PEG10 and TSG101 expression in 108 adenocarcinomas, 15 gallbladder polyps, 35 chronic cholecystitis tissues, and 46 peritumoral tissues by using immunohistochemistry.
|
NA
|
{
"id": 7251,
"name": "TSG101",
"pos": [
85,
6
]
}
|
{
"id": "C0085694",
"name": "Chronic cholecystitis",
"pos": [
153,
21
]
}
|
Hesperidin-CAMKIV interaction and its impact on cell proliferation and apoptosis in the human hepatic carcinoma and neuroblastoma cells.
|
biomarker
|
{
"id": 814,
"name": "CAMK4",
"pos": [
11,
6
]
}
|
{
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
116,
13
]
}
|
However, rather than exhibiting a chromosomal translocation involving ALK, the use of FISH and a break-apart probe demonstrated that there was increased copy number of intact 2p23, the chromosomal region containing the ALK gene.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
86,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
34,
25
]
}
|
Analysis of the soluble receptor revealed absence of sOSMRβ protein in esophageal tissues, however, immunoprecipitation and western blot analysis showed its presence in sera of ESCC patients further confirming expression of the alternatively spliced OSMR β in ESCC patients.
|
NA
|
{
"id": 9180,
"name": "OSMR",
"pos": [
250,
4
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
71,
10
]
}
|
Case-case and case-control analyses involving participants in the Cancer and Steroid Hormone study were used to examine the association between p53 gene mutation in ovarian tumors and the lifetime number of ovulatory cycles.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
144,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
66,
6
]
}
|
To identify other susceptibility genes for prion disease, we examined nucleotide variations in YWHAH, a gene encoding 14-3-3 eta.
|
NA
|
{
"id": 7533,
"name": "YWHAH",
"pos": [
118,
10
]
}
|
{
"id": "C0162534",
"name": "Prion Diseases",
"pos": [
43,
13
]
}
|
This meta-analysis suggests that individuals with both intermediate and absent TPMT activity have an increased risk of developing thiopurine-induced myelosuppression, compared with individuals with normal activity.
|
NA
|
{
"id": 7172,
"name": "TPMT",
"pos": [
79,
4
]
}
|
{
"id": "C0854467",
"name": "Myelosuppression",
"pos": [
149,
16
]
}
|
It has been proposed that the patterns of mutations in the p53 tumor suppressor gene will provide clues to the mechanisms of cancer occurrence.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
59,
20
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
125,
6
]
}
|
Gene and protein expression of sPLA2-IIA, MMP-1, MMP-2, MMP-3, MMP-9, tissue inhibitor of metalloproteinase (TIMP)-1, and TIMP-2 were analyzed by real time PCR and ELISA respectively, in interleukin (IL)-1beta stimulated rheumatoid arthritis (RA) and osteoarthritis (OA) synovial fibroblasts cells treated with or without inhibitors of sPLA2 (PIP-18, LY315920) or MMPs (MMP Inhibitor II).
|
NA
|
{
"id": 5304,
"name": "PIP",
"pos": [
343,
3
]
}
|
{
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
251,
14
]
}
|
To overcome the low efficiency of gene therapy, we combined a conditionally replicating adenovirus (CRAd) and an adenoviral vector with a therapeutic gene.
|
NA
|
{
"id": 57482,
"name": "CRACD",
"pos": [
100,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
88,
10
]
}
|
While treatment with terlipressin/albumin is well established in type 1, its effectiveness in chronic HRS is less clear.
|
biomarker
|
{
"id": 213,
"name": "ALB",
"pos": [
34,
7
]
}
|
{
"id": "C0751781",
"name": "Dentatorubral-Pallidoluysian Atrophy",
"pos": [
102,
3
]
}
|
On the other hand, our result also highlights that for the vast majority of breast cancer cases traditional FISH examination is still adequate to reach the correct diagnosis.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
108,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
76,
13
]
}
|
Thus, we investigated whether APPL1 prevents beta cell apoptosis and inflammation in diabetes.
|
biomarker
|
{
"id": 26060,
"name": "APPL1",
"pos": [
30,
5
]
}
|
{
"id": "C0011847",
"name": "Diabetes",
"pos": [
85,
8
]
}
|
The expressions of DVL-3 mRNA and δ-catenin mRNA were significantly higher in malignant than in benign lung disease (P < 0.01) and were obviously higher than cytology in adenocarcinoma (P < 0.01).
|
NA
|
{
"id": 1855,
"name": "DVL1",
"pos": [
19,
3
]
}
|
{
"id": "C0024115",
"name": "Lung diseases",
"pos": [
103,
12
]
}
|
Taken together, these results suggest that indoxyl sulfate-induced cardiomyocytes hypertrophy was partly due to the inhibition of AMPK/UCP2 signaling and the enhancement of oxidative stress.
|
NA
|
{
"id": 7351,
"name": "UCP2",
"pos": [
135,
4
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
82,
11
]
}
|
Moreover, p75NTR expression was also lost or significantly decreased in various human gastric cancer cell lines.
|
NA
|
{
"id": 4804,
"name": "NGFR",
"pos": [
10,
6
]
}
|
{
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
86,
14
]
}
|
BRAF(V600E) mutation correlated with multifocality, more aggressive variants, infiltration of the tumoral capsule, and greater tumor's diameter.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
0,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
127,
5
]
}
|
We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
178,
4
]
}
|
{
"id": "C1297882",
"name": "Partial Trisomy",
"pos": [
62,
15
]
}
|
Our results reveal a new EGR-1/GGPPS/MAPK signaling pathway that controls cigarette smoke-induced pulmonary inflammation, and this may shed light on our understanding of the mechanism of cigarette smoke-related pulmonary diseases such as chronic obstructive pulmonary disease.
|
NA
|
{
"id": 9453,
"name": "GGPS1",
"pos": [
31,
5
]
}
|
{
"id": "C0024117",
"name": "Chronic Obstructive Airway Disease",
"pos": [
238,
37
]
}
|
The p53 codon 72 Pro/Pro carriers showed lower risk of disease progression (local recurrence and distant metastases) (HR: 0.300; 95% CI: 0.092-0.983; p=0.047).
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
4,
3
]
}
|
{
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
105,
10
]
}
|
A prospective study of HDL-C and cholesteryl ester transfer protein gene mutations and the risk of coronary heart disease in the elderly.
|
genomic_alterations
|
{
"id": 1071,
"name": "CETP",
"pos": [
33,
34
]
}
|
{
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
99,
22
]
}
|
Serum levels of S100B, S100A6 and S100P were higher in ACS group than in stable angina and control groups, and sRAGE levels were higher in ACS patients versus controls (all p<0.01).
|
NA
|
{
"id": 6286,
"name": "S100P",
"pos": [
34,
5
]
}
|
{
"id": "C0340288",
"name": "Stable angina",
"pos": [
73,
13
]
}
|
To analyze the frequency of LRRK2 G2019S mutation in sporadic and familial cases of PD and normal controls of common ethnicity from South India.
|
NA
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
28,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
53,
8
]
}
|
Patients with anemia of chronic renal failure are treated with erythropoietin.
|
genomic_alterations
|
{
"id": 2056,
"name": "EPO",
"pos": [
63,
14
]
}
|
{
"id": "C0271932",
"name": "Anemia of chronic renal failure",
"pos": [
14,
31
]
}
|
Most advanced are clinical studies with IL-1 antagonists showing improved β-cell function and glycemia and prevention of cardiovascular diseases and heart failure.
|
biomarker
|
{
"id": 3552,
"name": "IL1A",
"pos": [
40,
4
]
}
|
{
"id": "C0018801",
"name": "Heart failure",
"pos": [
149,
13
]
}
|
No significant differences in induction of apoptosis or necrosis or DNA DSB or in decreased survival were observed after (211)At-anti-CD33 (1:1,090) versus GO (1:1) treatment.
|
NA
|
{
"id": 945,
"name": "CD33",
"pos": [
134,
4
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
56,
8
]
}
|
The mutational profile of TNBC during treatment as inferred from patterns of mutant allele frequencies in matched pre-and post-NAC samples showed that RD harbored alterations of cell cycle progression, PI3K/Akt/mTOR, and EGFR tyrosine kinase inhibitor-resistance pathways.
|
genomic_alterations
|
{
"id": 5291,
"name": "PIK3CB",
"pos": [
202,
4
]
}
|
{
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
26,
4
]
}
|
A secondary location of syntaxin 11 was in specific and tertiary granules, which resulted in translocation to the plasma membrane on cell activation conditions that promoted the release of these organelles.
|
NA
|
{
"id": 8676,
"name": "STX11",
"pos": [
24,
11
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
2,
9
]
}
|
Imputation analysis identified additional associated SNPs for pOJIA at IL-20 and IL-24, including a rare, functional, missense variant at IL-24 with a p = 0.0002.
|
genomic_alterations
|
{
"id": 50604,
"name": "IL20",
"pos": [
71,
5
]
}
|
{
"id": "C3897938",
"name": "Persistent Oligoarticular Juvenile Idiopathic Arthritis",
"pos": [
62,
5
]
}
|
The results suggest that there are interactions between RGS2, RGS6, and PDZ-RhoGEF and validate this family of proteins as key regulators of tumorigenesis.
|
NA
|
{
"id": 9628,
"name": "RGS6",
"pos": [
62,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
141,
13
]
}
|
In a negative feedback loop, the translocation of Cbl-b from the nucleus to the cytoplasm prevented the localization of P-gp to caveolae resulting in the reversal of MDR through the ubiquitination and degradation of c-Src.
|
NA
|
{
"id": 868,
"name": "CBLB",
"pos": [
50,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
33,
13
]
}
|
Tuberous sclerosis (TS), autosomal dominant disorder manifested by the formation of usually benign tumors in the brain, heart, kidneys and skin, results from an inactivating mutation in one of two tumor suppressor genes TSC1 or TSC2.
|
genomic_alterations
|
{
"id": 7248,
"name": "TSC1",
"pos": [
220,
4
]
}
|
{
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
0,
18
]
}
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.