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stringclasses 4
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dict | t
dict |
|---|---|---|---|
Targeting clusterin induces apoptosis, reduces growth ability, invasion and mediates sensitivity to chemotherapy in human cancer in human osteosarcoma cells.
|
biomarker
|
{
"id": 1191,
"name": "CLU",
"pos": [
10,
9
]
}
|
{
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
138,
12
]
}
|
Risk factors examined were antithrombin, protein C and protein S levels, factor V Leiden, the prothrombin G20210A mutation, the methylenetetrahydrofolate reductase C677T polymorphism, and acquired thrombophilic risk factors, including anticardiolipin antibodies, lupus anticoagulant, and serum homocysteine levels.
|
NA
|
{
"id": 2153,
"name": "F5",
"pos": [
73,
15
]
}
|
{
"id": "C4321325",
"name": "Lupus anticoagulant -- finding",
"pos": [
263,
19
]
}
|
Although DNAJC6 (Auxilin), DNAJC12, and DNAJC5 (CSPα) exhibit strong genetic association with disease, DNAJC26 (GAK), DNAJC13 (RME-8), and DNAJC10 (Erdj5) require additional evidence to definitively link reported variants to parkinsonism.
|
genomic_alterations
|
{
"id": 56521,
"name": "DNAJC12",
"pos": [
27,
7
]
}
|
{
"id": "C0242422",
"name": "Parkinsonian Disorders",
"pos": [
225,
12
]
}
|
We sought to stimulate the mitochondrial pathway of apoptosis by constructing a recombinant adenovirus encoding mature, processed Smac/DIABLO (Ad CMV tSmac), the second mitochondrial activator of caspases.
|
NA
|
{
"id": 56616,
"name": "DIABLO",
"pos": [
135,
6
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
92,
10
]
}
|
Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy.
|
genomic_alterations
|
{
"id": 7025,
"name": "NR2F1",
"pos": [
15,
5
]
}
|
{
"id": "C0008073",
"name": "Developmental Disabilities",
"pos": [
165,
26
]
}
|
No signals of an increased risk for diabetes mellitus have been noted so far, although continued follow-up (both during and after rhGH therapy) is required to confirm this.
|
genomic_alterations
|
{
"id": 2688,
"name": "GH1",
"pos": [
132,
2
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
36,
17
]
}
|
Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).
|
genomic_alterations
|
{
"id": 59341,
"name": "TRPV4",
"pos": [
56,
5
]
}
|
{
"id": "C0022408",
"name": "Arthropathy",
"pos": [
247,
11
]
}
|
ABCB1 is a predictive marker of chemotherapy response in ependymoma patients and vardenafil, currently used to treat paediatric pulmonary hypertension in children, could be repurposed to reduce chemoresistance, migration and invasion in paediatric ependymoma patients at non-toxic concentrations.
|
biomarker
|
{
"id": 5243,
"name": "ABCB1",
"pos": [
0,
5
]
}
|
{
"id": "C1851584",
"name": "Childhood Ependymoma",
"pos": [
57,
10
]
}
|
A second hit from either environmental triggers or genetic heterozygosity of another tumor suppressor, p53, markedly increased tumor incidence in a Hace1-deficient background.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
103,
3
]
}
|
{
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
9,
3
]
}
|
BLBP-expression in astrocytes during experimental demyelination and in human multiple sclerosis lesions.
|
NA
|
{
"id": 2173,
"name": "FABP7",
"pos": [
0,
4
]
}
|
{
"id": "C0011304",
"name": "Demyelination",
"pos": [
50,
13
]
}
|
In patients treated with PEG-IFN and lamivudine, a uniform biphasic viral decline pattern was found during therapy and there were no marked differences in viral load between those who lost HBeAg at the end of follow-up (response) or not.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
29,
3
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
155,
10
]
}
|
As osteomyelitis (OM) induces the synthesis of inflammatory cytokines and IL-1 mediates bone resorption by osteoclasts we determined if there is an association between certain common polymorphisms of the genes encoding proinflammatory cytokines (IL-1 alpha and beta, IL-6, TNF-alpha) and OM in adults.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
273,
9
]
}
|
{
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
88,
15
]
}
|
Fusion of the TBL1XR1 and HMGA1 genes in splenic hemangioma with t(3;6)(q26;p21).
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
76,
3
]
}
|
{
"id": "C0685201",
"name": "Hemangioma of spleen",
"pos": [
41,
18
]
}
|
Superior Therapeutic Efficacy of Nanoparticle Albumin Bound Paclitaxel Over Cremophor-Bound Paclitaxel in Experimental Esophageal Adenocarcinoma.
|
biomarker
|
{
"id": 213,
"name": "ALB",
"pos": [
46,
7
]
}
|
{
"id": "C0279628",
"name": "Adenocarcinoma Of Esophagus",
"pos": [
119,
25
]
}
|
In a panel of pleural mesothelioma cell lines, FGFR1 and FGF2 were coexpressed in three of seven cell lines and were significantly associated with sensitivity to the FGFR-active tyrosine kinase inhibitor (TKI), ponatinib, both in vitro and in vivo using orthotopically propagated xenografts.
|
NA
|
{
"id": 2258,
"name": "FGF13",
"pos": [
57,
4
]
}
|
{
"id": "C0812413",
"name": "Malignant Pleural Mesothelioma",
"pos": [
14,
20
]
}
|
We found that fluorouracil (5-FU)-resistant esophageal squamous cell carcinoma cell lines, established through exposure to increasing concentrations of 5-FU, showed upregulation of Id1, IGF2, and E2F1.
|
NA
|
{
"id": 3397,
"name": "ID1",
"pos": [
181,
3
]
}
|
{
"id": "C0279626",
"name": "Squamous cell carcinoma of esophagus",
"pos": [
44,
34
]
}
|
Immunohistochemistry was used to evaluate p63 expression in paraffin embedded sections of giant cell tumor of bone and in tumors containing multinucleated giant cells, including: giant cell tumor of tendon sheath, pigmented villonodular synovitis, aneurysmal bone cyst, chondroblastoma, and central giant cell granuloma.
|
NA
|
{
"id": 10970,
"name": "CKAP4",
"pos": [
42,
3
]
}
|
{
"id": "C0162375",
"name": "Granuloma, Giant Cell Reparative",
"pos": [
291,
28
]
}
|
To enhance the therapeutic index of soluble (s)TRAIL, we used CD34+ cells transduced with a replication-deficient adenovirus encoding the human TRAIL gene (CD34-TRAIL+) for the systemic delivery of membrane-bound (m)TRAIL to lymphoid tumors.
|
NA
|
{
"id": 947,
"name": "CD34",
"pos": [
156,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
114,
10
]
}
|
HDAC1 and HDAC5 protein levels were elevated in lungs from human idiopathic pulmonary arterial hypertension and in lungs and right ventricles from rats exposed to hypoxia.
|
NA
|
{
"id": 10014,
"name": "HDAC5",
"pos": [
10,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
163,
7
]
}
|
Interestingly, covariation of CDH1, CDH3, CTCF and E2F4 was found to be associated with triple negative breast cancer and HER-2 receptor status.
|
NA
|
{
"id": 1874,
"name": "E2F4",
"pos": [
51,
4
]
}
|
{
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
88,
29
]
}
|
Here we show that an inverse correlation exists between aggressive tumor behavior (increased metastatic potential and accelerated time to death) and the residual expression of 14q32 miRNAs (using miR-382 as a representative of 14q32 miRNAs) in a series of clinically annotated samples from human osteosarcoma patients.
|
biomarker
|
{
"id": 494331,
"name": "MIR382",
"pos": [
196,
7
]
}
|
{
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
296,
12
]
}
|
The average MIB index value was higher in patients with recurrence of tumor at follow-up (4.78 ± 5.77 vs. 1.89 ± 1.48 mm; P < 0.001).
|
biomarker
|
{
"id": 4288,
"name": "MKI67",
"pos": [
12,
3
]
}
|
{
"id": "C0521158",
"name": "Recurrent tumor",
"pos": [
56,
19
]
}
|
The effect of antisense GKLF transfection on the proliferation and adhesion of esophageal squamous cancer cell line was also observed.
|
NA
|
{
"id": 9314,
"name": "KLF4",
"pos": [
24,
4
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
79,
10
]
}
|
The viral genotype is similar in asymptomatic carriers and HAM/TSP patients.
|
NA
|
{
"id": 7057,
"name": "THBS1",
"pos": [
63,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
33,
12
]
}
|
We report that VHR is upregulated in (pre) neoplastic lesions (squamous intraepithelial lesions; SILs) of the uterine cervix mainly in high grade SIL (H-SIL) compared to normal exocervix.
|
NA
|
{
"id": 1845,
"name": "DUSP3",
"pos": [
15,
3
]
}
|
{
"id": "C0333873",
"name": "Squamous intraepithelial lesion",
"pos": [
63,
32
]
}
|
A novel susceptibility locus in the IL12B region is associated with the pathophysiology of Takayasu arteritis through IL-12p40 and IL-12p70 production.
|
genomic_alterations
|
{
"id": 3593,
"name": "IL12B",
"pos": [
36,
5
]
}
|
{
"id": "C0039263",
"name": "Takayasu Arteritis",
"pos": [
91,
18
]
}
|
Similarly, Gal-3 gene deletion in β<sub>2</sub>-TG mice aged 3 and 9 mo did not rescue the cardiomyopathy phenotype.
|
genomic_alterations
|
{
"id": 3958,
"name": "LGALS3",
"pos": [
11,
5
]
}
|
{
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
103,
14
]
}
|
To determine the effects of this Bcr-Abl kinase inhibitor on chronic myelogenous leukemia (CML) cells, we cloned BCR(64-413) into a recombinant, replication-defective adenovirus to express useful quantities of Bcr(64-413) in a wide variety of cells in culture.
|
NA
|
{
"id": 613,
"name": "BCR",
"pos": [
113,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
167,
10
]
}
|
Surface plasmon resonance using bacterially expressed proteins demonstrated that Noxa binds with mean dissociation constants (K(D)) of 3.4 nm for Mcl-1, 70 nm for Bcl-x(L), and 250 nm for wild type human Bcl-2, demonstrating selectivity but not absolute specificity of Noxa for Mcl-1.
|
NA
|
{
"id": 5366,
"name": "PMAIP1",
"pos": [
269,
4
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
102,
12
]
}
|
Furthermore, some pivotal fusion genes like ESR1-C6orf97 with COBRA1-C9orf167 and VAPB-IKZF3 with ACACA-STAC2 were found in Luminal A and Luminal B breast cancer, respectively.
|
biomarker
|
{
"id": 342667,
"name": "STAC2",
"pos": [
104,
5
]
}
|
{
"id": "C3642346",
"name": "Luminal B Breast Carcinoma",
"pos": [
138,
23
]
}
|
We studied the potential role of GSTM3 and GSTP1 gene polymorphisms either separately, or in combination with GSTM1 and GSTT1 gene polymorphisms, in susceptibility to lung cancer using peripheral blood DNA from 150 lung cancer patients and 172 control individuals, all regular smokers.
|
genomic_alterations
|
{
"id": 2952,
"name": "GSTT1",
"pos": [
120,
5
]
}
|
{
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
167,
11
]
}
|
Furthermore, these results suggest that HAV infection has driven the natural selection of shorter forms of the TIM-1 protein, which binds HAV less efficiently, thereby protecting against severe HAV-induced disease, but which may predispose toward inflammation associated with asthma and allergy.
|
NA
|
{
"id": 26762,
"name": "HAVCR1",
"pos": [
111,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
247,
12
]
}
|
Since Cx43 is the connexin isoform expressed preferentially in astrocytes in the spinal cord, we used a small interfering RNA (siRNA) approach to examine whether suppression of spinal Cx43 expression inhibits mechanical hypersensitivity in rats after an L5 spinal nerve ligation (SNL).
|
NA
|
{
"id": 2697,
"name": "GJA1",
"pos": [
184,
4
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
220,
16
]
}
|
Microsatellite instability (MI) characterizing tumors with replication errors (RER+ tumors) was first described in colorectal tumors from hereditary non-polyposis colorectal cancer (HNPCC) patients as well as in sporadic cases.
|
NA
|
{
"id": 3550,
"name": "IK",
"pos": [
79,
3
]
}
|
{
"id": "C0009404",
"name": "Colorectal Neoplasms",
"pos": [
115,
17
]
}
|
Our findings suggest that recessive mutations in GARS may cause systemic mitochondrial disease.
|
genomic_alterations
|
{
"id": 2617,
"name": "GARS1",
"pos": [
49,
4
]
}
|
{
"id": "C0751651",
"name": "Mitochondrial Diseases",
"pos": [
73,
21
]
}
|
In this study, methylation levels of seven biomarkers (EOMES, GDF15, NID2, PCDH17, POU4F2, TCF21, and ZNF154) in 148 individuals-which including 58 urothelial cell carcinoma (UCC) patients, 20 infected urinary calculi (IUC) patients, 20 kidney cancer (KC) patients,20 prostate cancer (PC) patients, and 30 healthy volunteers (HV)-were quantified by qMSP using the urine sediment DNA.
|
NA
|
{
"id": 22795,
"name": "NID2",
"pos": [
69,
4
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
164,
9
]
}
|
PTGIS hypermethylation was associated with aneuploidy and p53 mutations.
|
NA
|
{
"id": 5740,
"name": "PTGIS",
"pos": [
0,
5
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
43,
10
]
}
|
Involvement of Rho kinase in the pathogenesis of acute pulmonary embolism-induced polystyrene microspheres in rats.
|
NA
|
{
"id": 6093,
"name": "ROCK1",
"pos": [
15,
10
]
}
|
{
"id": "C2882221",
"name": "Acute pulmonary embolism",
"pos": [
49,
24
]
}
|
Within 24 hours in vivo EMD638683 treatment significantly decreased blood pressure in fructose/saline-treated mice but not in control animals or in SGK1 knockout mice.
|
NA
|
{
"id": 6446,
"name": "SGK1",
"pos": [
148,
4
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
68,
14
]
}
|
MicroRNA-122 influences the development of sperm abnormalities from human induced pluripotent stem cells by regulating TNP2 expression.
|
NA
|
{
"id": 7142,
"name": "TNP2",
"pos": [
119,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
49,
13
]
}
|
INK4A gene and the p19(ARF)-specific exon 1beta were studied in 11 MPNST samples from 8 patients and 7 neurofibromas.
|
genomic_alterations
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
0,
5
]
}
|
{
"id": "C0027830",
"name": "neurofibroma",
"pos": [
103,
13
]
}
|
Tissue samples for RNA extraction were obtained from 12 children with compensated cirrhosis (CC), 22 children with decompensated cirrhosis (DC), and 9 children with acute liver failure (ALF).
|
NA
|
{
"id": 11036,
"name": "GTF2A1L",
"pos": [
186,
3
]
}
|
{
"id": "C0023890",
"name": "Liver Cirrhosis",
"pos": [
82,
9
]
}
|
Twenty patients (54%) had 13q14 deletions, 10 of whom also had t(11;14) or another IGH translocation.
|
NA
|
{
"id": 3492,
"name": "IGH",
"pos": [
83,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
87,
13
]
}
|
We observed higher expression levels of MeCP2 mRNA in neoplastic tissues than in non-neoplastic tissues (P=0.001), whereas no significant differences for MBD2 were detected.
|
NA
|
{
"id": 4204,
"name": "MECP2",
"pos": [
40,
5
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
81,
14
]
}
|
We present evidence to suggest that the MMP matrilysin, in particular, plays an essential role in much earlier stages of intestinal tumorigenesis.
|
NA
|
{
"id": 4316,
"name": "MMP7",
"pos": [
44,
10
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
132,
13
]
}
|
We have determined the molecular basis of disease in a child from a consanguineous mating with ADA- SCID of clinically and biochemically reduced severity, diagnosed at 15 months of age and characterized by retention of more immunologic function than is typical of the fulminant neonatal onset type.
|
NA
|
{
"id": 100,
"name": "ADA",
"pos": [
95,
3
]
}
|
{
"id": "C1855106",
"name": "Neonatal onset",
"pos": [
278,
14
]
}
|
For this analysis, we included an additional set of 160 patients who were previously shown to be free of causative variants in PSEN1, PSEN2 and APP: 107 ADEOAD patients and 53 sporadic EOAD patients with an age of onset before 51 years.
|
NA
|
{
"id": 351,
"name": "APP",
"pos": [
144,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
176,
8
]
}
|
TH2 pathway genes (IL13, TSLP, IL33, and IL1RL1) conferring asthma susceptibility were not associated with lung function.
|
NA
|
{
"id": 85480,
"name": "TSLP",
"pos": [
25,
4
]
}
|
{
"id": "C1869116",
"name": "ASTHMA, SUSCEPTIBILITY TO (finding)",
"pos": [
60,
21
]
}
|
This study aimed to assess the expression of vasohibin-2 (VASH2) in pancreatic ductal adenocarcinoma (PDAC) as a marker of tumor aggressiveness and its impact on tumor angiogenesis, proliferation, and clinical outcome.
|
NA
|
{
"id": 79805,
"name": "VASH2",
"pos": [
58,
5
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
129,
14
]
}
|
miR-15b inhibits cancer-initiating cell phenotypes and chemoresistance of cisplatin by targeting TRIM14 in oral tongue squamous cell cancer.
|
biomarker
|
{
"id": 9830,
"name": "TRIM14",
"pos": [
97,
6
]
}
|
{
"id": "C0751688",
"name": "Malignant Squamous Cell Neoplasm",
"pos": [
119,
20
]
}
|
Constitutional DNA from probands was systematically screened for MYH variants and those with cancers displaying microsatellite instability (MSI) for germ-line MMR mutations; diagnoses of familial adenomatous polyposis and juvenile polyposis were established based on clinical phenotype and mutational analysis.
|
genomic_alterations
|
{
"id": 4595,
"name": "MUTYH",
"pos": [
65,
3
]
}
|
{
"id": "C0345893",
"name": "Juvenile polyposis syndrome",
"pos": [
222,
18
]
}
|
miR-409-3p inhibits HT1080 cell proliferation, vascularization and metastasis by targeting angiogenin.
|
NA
|
{
"id": 283,
"name": "ANG",
"pos": [
91,
10
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
47,
15
]
}
|
The myocilin (MYOC) gene has been found to mutate in both sporadic and familial cases of POAG worldwide.
|
NA
|
{
"id": 4653,
"name": "MYOC",
"pos": [
14,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
58,
8
]
}
|
Photobiomodulation increases cell viability via AKT activation in an in vitro model of diabetes induced by glucose neurotoxicity.
|
biomarker
|
{
"id": 207,
"name": "AKT1",
"pos": [
48,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
87,
8
]
}
|
Pheochromocytomas and paragangliomas are neuroendocrine tumors that occur in the context of inherited cancer syndromes in ∼30% of cases and are linked to germline mutations in the VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2 and TMEM127 genes.
|
genomic_alterations
|
{
"id": 54949,
"name": "SDHAF2",
"pos": [
219,
6
]
}
|
{
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
22,
14
]
}
|
SPARC (secreted protein acidic and rich in cysteine) is a matricellular protein whose overexpression in malignant or tumor-stromal cells is often associated with increased aggressiveness and bad prognosis in a wide range of human cancer types, particularly melanoma.
|
NA
|
{
"id": 6678,
"name": "SPARC",
"pos": [
0,
5
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
172,
14
]
}
|
The RAD52 gene is involved in the homologous recombination repair pathway and is a plausible candidate ovarian cancer predisposition gene.
|
biomarker
|
{
"id": 5893,
"name": "RAD52",
"pos": [
4,
5
]
}
|
{
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
103,
14
]
}
|
The t(4;14) translocation occurs in 25% of multiple myeloma (MM) and results in both the ectopic expression of fibroblast growth factor receptor 3 (FGFR3) from der4 and immunoglobulin heavy chain-MMSET hybrid messenger RNA transcripts from der14.
|
NA
|
{
"id": 7468,
"name": "NSD2",
"pos": [
196,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
12,
13
]
}
|
Mammalian target of rapamycin (mTOR) is a nutrient-activated kinase and central controller of growth and metabolism that is negatively regulated by the tumor suppressor tuberous sclerosis complex 1 (TSC1).
|
genomic_alterations
|
{
"id": 7248,
"name": "TSC1",
"pos": [
199,
4
]
}
|
{
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
169,
26
]
}
|
Conversely, the PM harbored a relative low number of genetic variants and a novel mutation in the WT1 gene that might be involved in the carcinogenesis of nonasbestos-related mesothelioma.
|
genomic_alterations
|
{
"id": 7490,
"name": "WT1",
"pos": [
98,
3
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
137,
14
]
}
|
Although 60% (37/61) of sporadic colon carcinomas contained mutations in codon 12, only 1 of 17 specimens of dysplasia or carcinoma from ulcerative colitis patients contained c-Ki-ras mutations, despite a high frequency of aneuploid tumors.
|
NA
|
{
"id": 3845,
"name": "KRAS",
"pos": [
177,
6
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
223,
9
]
}
|
Transcription factor Sp1 regulates the ETBR mediated vasoconstriction in focal cerebral ischemia via MEK-ERK signaling, which is also conserved in humans.
|
biomarker
|
{
"id": 6667,
"name": "SP1",
"pos": [
0,
24
]
}
|
{
"id": "C0007785",
"name": "Cerebral Infarction",
"pos": [
79,
17
]
}
|
To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).
|
NA
|
{
"id": 6390,
"name": "SDHB",
"pos": [
443,
4
]
}
|
{
"id": "C0334121",
"name": "Inflammatory Myofibroblastic Tumor",
"pos": [
380,
34
]
}
|
Signal transducer and activator of transcription 3 (STAT3) is involved in cytokine- and nutrient-induced insulin resistance.
|
NA
|
{
"id": 6774,
"name": "STAT3",
"pos": [
52,
5
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
105,
18
]
}
|
Preoperative serum TPO levels were measured in women with epithelial ovarian cancer (n=51) and women with benign ovarian cysts (n=25) using an enzyme-linked immunosorbent assay.
|
NA
|
{
"id": 7066,
"name": "THPO",
"pos": [
19,
3
]
}
|
{
"id": "C0029927",
"name": "Ovarian Cysts",
"pos": [
113,
13
]
}
|
We have previously reported that neuronal endangerment in vitro and hypothermic transient global ischaemia in vivo each result in increased mineralocorticoid receptor (MR) expression.
|
NA
|
{
"id": 4306,
"name": "NR3C2",
"pos": [
140,
26
]
}
|
{
"id": "C0020672",
"name": "Hypothermia, natural",
"pos": [
68,
11
]
}
|
Promisingly, GDF15 could be considered as a potential therapeutic target in liver cancer.
|
biomarker
|
{
"id": 9518,
"name": "GDF15",
"pos": [
13,
5
]
}
|
{
"id": "C0220630",
"name": "Adult Liver Carcinoma",
"pos": [
76,
12
]
}
|
The higher LINE-1 demethylation in NCM from patients with multiple (synchronous and metachronous) tumors (P=9.6 × 10(-7)) was also very significant in patients with tumors without (P=3.8 × 10(-6)), but not with (P=0.16) microsatellite instability.
|
NA
|
{
"id": 57703,
"name": "CWC22",
"pos": [
35,
3
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
220,
26
]
}
|
All methods showed that ANXA1 was down-regulated in esophageal, gastric, and bile duct cancers, but up-regulated in pancreatic cancer.
|
NA
|
{
"id": 301,
"name": "ANXA1",
"pos": [
24,
5
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
52,
10
]
}
|
TRAIL combined with IkappaBalpha-"superrepressor" induced potent apoptosis of SK-Hep1 hepatoma cells at low concentrations of TRAIL that do not independently induce apoptosis.
|
NA
|
{
"id": 4792,
"name": "NFKBIA",
"pos": [
20,
12
]
}
|
{
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
86,
8
]
}
|
Injection of RCAS-PDGF-B into the brainstem of Pax3-Tv-a mice at postnatal day 3 results in 40% of mice developing asymptomatic low-grade glioma.
|
NA
|
{
"id": 5077,
"name": "PAX3",
"pos": [
47,
4
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
115,
12
]
}
|
Association of PER2 genotype and stressful life events with alcohol drinking in young adults.
|
NA
|
{
"id": 8864,
"name": "PER2",
"pos": [
15,
4
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
60,
16
]
}
|
After the hypoxic-ischemic injury, the levels of neuronal IGFBP3 mRNA substantially decreased within 24 h in areas that were normally supplied by the middle cerebral artery.
|
NA
|
{
"id": 3486,
"name": "IGFBP3",
"pos": [
58,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
10,
7
]
}
|
The aphakia phenotype suggested a mutation in FOXE3 close to the AR-locus 1p34.3-p32.2, and sequence analyses revealed the nonsense mutation c.720C>A, changing cysteine 240 to a stop codon.
|
NA
|
{
"id": 708,
"name": "C1QBP",
"pos": [
81,
3
]
}
|
{
"id": "C0003534",
"name": "Aphakia",
"pos": [
4,
7
]
}
|
Association of a CYP4A11 variant and blood pressure in black men.
|
NA
|
{
"id": 1579,
"name": "CYP4A11",
"pos": [
17,
7
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
37,
14
]
}
|
A relationship between these secondary V(H) gene rearrangements and the autoimmunity characteristic of RA should be considered.
|
genomic_alterations
|
{
"id": 102723407,
"name": "LOC102723407",
"pos": [
39,
4
]
}
|
{
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
103,
2
]
}
|
Subjects receiving the low dose of NP2 reported no substantive change in pain.
|
NA
|
{
"id": 4885,
"name": "NPTX2",
"pos": [
35,
3
]
}
|
{
"id": "C0030193",
"name": "Pain",
"pos": [
73,
4
]
}
|
The Gcgr(-/-) mice became progressively lethargic and cachexic after 12 months.
|
NA
|
{
"id": 2642,
"name": "GCGR",
"pos": [
4,
4
]
}
|
{
"id": "C0023380",
"name": "Lethargy",
"pos": [
40,
9
]
}
|
We recently identified nucleophosmin (NPM) and anaplastic lymphoma kinase (ALK) as the genes on chromosomes 5 and 2, respectively, that are juxtaposed by this translocation.
|
NA
|
{
"id": 238,
"name": "ALK",
"pos": [
75,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
159,
13
]
}
|
The only case of intraductal hyperplasia without atypia positive for p53 was euploid, whereas the only p53-positive case of intraductal hyperplasia with atypia was aneuploid.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
103,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
164,
9
]
}
|
Recent studies in vitro suggest that mutant p53 destabilises the genome and facilitates development of aneuploidy.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
44,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
103,
10
]
}
|
IL-6 and IL-11 are two cytokines that increase osteoclast formation and augment bone resorption.
|
NA
|
{
"id": 3589,
"name": "IL11",
"pos": [
9,
5
]
}
|
{
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
80,
15
]
}
|
From these, we validated and further characterized novel gene fusions involving ROS1 tyrosine kinase in angiosarcoma (CEP85L/ROS1), SLC1A2 glutamate transporter in colon cancer (APIP/SLC1A2), RAF1 kinase in pancreatic cancer (ATG7/RAF1) and anaplastic astrocytoma (BCL6/RAF1), EWSR1 in melanoma (EWSR1/CREM), CDK6 kinase in T-cell acute lymphoblastic leukemia (FAM133B/CDK6), and CLTC in breast cancer (CLTC/VMP1).
|
biomarker
|
{
"id": 387119,
"name": "CEP85L",
"pos": [
118,
6
]
}
|
{
"id": "C0280483",
"name": "Adult Anaplastic Astrocytoma",
"pos": [
241,
22
]
}
|
Treating sleep apnea in Parkinson's disease with C-PAP: feasibility concerns and effects on cognition and alertness.
|
biomarker
|
{
"id": 10914,
"name": "PAPOLA",
"pos": [
51,
3
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
24,
19
]
}
|
Regulation of a Notch3-Hes1 pathway and protective effect by a tocopherol-omega alkanol chain derivative in muscle atrophy.
|
NA
|
{
"id": 8209,
"name": "GATD3A",
"pos": [
23,
4
]
}
|
{
"id": "C0026846",
"name": "Muscular Atrophy",
"pos": [
108,
14
]
}
|
PTTG1 was overexpressed in all of 48 colon carcinomas (median fold-increase 2.2 [IQR 1.8-3.3]) and in 19 of 20 colonic polyps (2.2 [1.6-3.1]) compared with normal colonic tissue.
|
NA
|
{
"id": 9232,
"name": "PTTG1",
"pos": [
0,
5
]
}
|
{
"id": "C0009376",
"name": "Colonic Polyps",
"pos": [
111,
14
]
}
|
MiRNAs associated with specific complications included: i) neuropathy (miR-873-5p, miR-125a-5p, miR-145-3p and miR-99b-5p); ii) nephropathy (miR-1249-3p, miR-193a-5p, miR-409-5p, miR-1271-5p, miR-501-3p, miR-148b-3p and miR-9-5p); and iii) retinopathy (miR-143-3p, miR-1271-5p, miR-409-5p and miR-199a-5p).
|
genomic_alterations
|
{
"id": 100302149,
"name": "MIR1249",
"pos": [
141,
8
]
}
|
{
"id": "C0022658",
"name": "Kidney Diseases",
"pos": [
128,
11
]
}
|
After Bonferroni correction, we found common variants in SH2B3, ABO, and ZEB2 to be associated with PAD ( P<4.5×10<sup>-5</sup>).
|
genomic_alterations
|
{
"id": 10019,
"name": "SH2B3",
"pos": [
57,
5
]
}
|
{
"id": "C1704436",
"name": "Peripheral Arterial Diseases",
"pos": [
100,
3
]
}
|
To determine the etiology of radiosensitivity, studies of histopathology, lower esophageal contractility, gastrointestinal transit, blood counts, electrolytes and inflammatory markers were performed; no significant differences between irradiated NOS1(-/-) and control mice were found.
|
NA
|
{
"id": 340719,
"name": "NANOS1",
"pos": [
246,
4
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
80,
10
]
}
|
Effects of dopamine D3 receptor agonists on pilocarpine-induced limbic seizures in the rat.
|
therapeutic
|
{
"id": 1813,
"name": "DRD2",
"pos": [
20,
3
]
}
|
{
"id": "C0270846",
"name": "Epileptic drop attack",
"pos": [
71,
8
]
}
|
We studied tumor necrosis factor (TNF), lymphotoxin-alpha (LT-alpha), and TNF receptors type 1 (TNFR-1) and type 2 (TNFR-2) gene polymorphisms as well as HLA class II DRB1 alleles in Japanese patients with human T-cell lymphotropic virus type I (HTLV-I) associated myelopathy (HAM) (n = 51), patients with adult T-cell leukemia/lymphoma (ATL) (n = 48), asymptomatic HTLV-I carriers (n = 50), and HTLV-I seronegative, normal controls (n = 112).
|
NA
|
{
"id": 129831,
"name": "RBM45",
"pos": [
167,
4
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
353,
12
]
}
|
The mean serum concentrations of TFF3 in patients with CKD, metastatic and secondary carcinoma (MC) and acute gastroenteritis (AG) (200.9 ng/ml, 95.7 ng/ml and 71.7 ng/ml, respectively) were significantly higher than those in patients with other common clinical diseases.
|
NA
|
{
"id": 7033,
"name": "TFF3",
"pos": [
33,
4
]
}
|
{
"id": "C0085668",
"name": "Secondary carcinoma",
"pos": [
75,
19
]
}
|
These results suggest that RSPO1, RSPO2 and RSPO3 may serve as distinct biomarkers and prognostic factors in patients with lung cancer.
|
biomarker
|
{
"id": 340419,
"name": "RSPO2",
"pos": [
34,
5
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
123,
11
]
}
|
Three- dimensional dynamic migration imaging system and real time RT-PCR were used to quantitatively investigate the effect of macrophages on the cancer cell mobility and gene expression related to cancer invasion and metastasis, including ADAM8, ADAM9, MMP9, TIMP3, VEGF-A and IL8 genes, in AGS, HGC-27, Hs-746T and NCI-N87 gastric cancer cell lines under normal or hypoxic conditions.
|
NA
|
{
"id": 8754,
"name": "ADAM9",
"pos": [
247,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
367,
7
]
}
|
We showed that osteoblast apoptosis and osteogenic differentiation in response to bacterial invasion are dependent on TLR2 expression and JNK activation, suggesting novel potential therapeutic targets for the treatment of osteomyelitis.
|
NA
|
{
"id": 5599,
"name": "MAPK8",
"pos": [
138,
3
]
}
|
{
"id": "C0029443",
"name": "Osteomyelitis",
"pos": [
222,
13
]
}
|
PCA, ABG, and PA occur in increased frequency in patients with type 1 diabetes and their relatives and are considered "minor" components of forms of autoimmune polyglandular syndrome (APS).
|
NA
|
{
"id": 1,
"name": "A1BG",
"pos": [
5,
3
]
}
|
{
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
63,
15
]
}
|
In human cells, however, silencing of endogenous p53 alone does not induce centrosome amplification or CIN, although high degrees of correlation between p53 mutation and CIN/centrosome amplification in human cancer can be detected, suggesting the presence of additional regulatory mechanism(s) in human cells that ensures the numeral integrity of centrosomes and genomic integrity.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
153,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
208,
6
]
}
|
CXCL9 and TCR factors discriminated between chronic versus nonprogressive disease, and CXCL9 predicted disease outcomes longitudinally.
|
NA
|
{
"id": 4283,
"name": "CXCL9",
"pos": [
87,
5
]
}
|
{
"id": "C3839460",
"name": "Nonprogressive",
"pos": [
59,
14
]
}
|
Molecular mechanism of monoamine oxidase A gene regulation under inflammation and ischemia-like conditions: key roles of the transcription factors GATA2, Sp1 and TBP.
|
NA
|
{
"id": 2624,
"name": "GATA2",
"pos": [
147,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
65,
12
]
}
|
Occludin, ZO-1, JAM-1, and claudin-1, -3, -4, and -14, but not claudin-7, mRNAs were decreased in recurrent tonsillitis compared with those of tonsillar hypertrophy.
|
NA
|
{
"id": 50848,
"name": "F11R",
"pos": [
16,
5
]
}
|
{
"id": "C0040425",
"name": "Tonsillitis",
"pos": [
108,
11
]
}
|
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