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|---|---|---|---|
Because of the reported responsiveness of HER2 mutation to anti-HER2 therapy, p-ILC patients without HER2 amplification/overexpression should receive HER2 mutation analysis to identify this therapeutically relevant target.
|
genomic_alterations
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
150,
4
]
}
|
{
"id": "C1512127",
"name": "HER2 gene amplification",
"pos": [
101,
18
]
}
|
This pilot study investigated the effects of the AT(1) receptor blocker losartan or the direct renin inhibitor aliskiren on mean arterial pressure (MAP) and albuminuria and the renal ANG II and ET-1 levels.
|
NA
|
{
"id": 283,
"name": "ANG",
"pos": [
183,
3
]
}
|
{
"id": "C0428886",
"name": "Mean blood pressure",
"pos": [
124,
22
]
}
|
The observed interaction with smoking is biologically plausible as, for the 72Pro p53 variant, decreased apoptosis and extended G1 cell cycle arrest is reported after carcinogen exposure.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
82,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
30,
7
]
}
|
In this study, we investigated the role of MIC-1 in resveratrol-induced growth inhibition of human pancreatic cancer cell lines.
|
biomarker
|
{
"id": 29919,
"name": "RMC1",
"pos": [
43,
5
]
}
|
{
"id": "C0346647",
"name": "Malignant neoplasm of pancreas",
"pos": [
99,
17
]
}
|
Furthermore, zinc deficiency condition promoted DSPP expression in odontoblasts and dentin mineralization, while zinc sufficiency condition decreased DSPP expression and slightly delayed dentin mineralization.
|
NA
|
{
"id": 1834,
"name": "DSPP",
"pos": [
150,
4
]
}
|
{
"id": "C0235950",
"name": "Zinc deficiency",
"pos": [
13,
15
]
}
|
Therefore the FISH assay in tissue was found to be very sensitive in detection of IGH/BCL2 translocation and was helpful in diagnosis of follicular lymphoma or in clarification of the cell origin of lymphoma when karyotype analysis was not available.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
14,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
91,
13
]
}
|
In in vitro experiments, hypoxia induced the upregulation of VEGF-A expression and the cytoplasmic translocation of HuR protein in meningioma cells, and inhibition of the cytoplasmic translocation of HuR reduced the upregulation of VEGF-A expression in meningioma cells.
|
NA
|
{
"id": 7422,
"name": "VEGFA",
"pos": [
232,
6
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
183,
13
]
}
|
In this report, we studied two unrelated families having familial-type AMD, with the assumption that mutations in the peripherin/retinal degeneration slow (RDS) gene could contribute to the disease phenotype.
|
NA
|
{
"id": 5630,
"name": "PRPH",
"pos": [
118,
10
]
}
|
{
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
129,
20
]
}
|
The effect of cLDL on glucose uptake, glucose transporter 4 (GLUT4) translocation, and signaling pathway were examined in cultured rat L6 muscle cells using 2-deoxyglucose uptake, immunofluorescence staining and western blot analysis.
|
NA
|
{
"id": 6517,
"name": "SLC2A4",
"pos": [
61,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
68,
13
]
}
|
We evaluated immunohistochemical expression of MTOR and phospho (p) -MTOR; its downstream targets RPS6KB1, RPS6, and EIF4EBP1; and its upstream regulators, in a cohort of 195 archival neuroendocrine tumors.
|
NA
|
{
"id": 6194,
"name": "RPS6",
"pos": [
107,
4
]
}
|
{
"id": "C0206754",
"name": "Neuroendocrine Tumors",
"pos": [
184,
21
]
}
|
Based on their main biological characteristics, we distinguished a deficient mismatch repair subtype, a KRAS mutant subtype, a cancer stem cell subtype, and three chromosomal instability subtypes, including one associated with down-regulated immune pathways, one with up-regulation of the Wnt pathway, and one displaying a normal-like gene expression profile.
|
genomic_alterations
|
{
"id": 3845,
"name": "KRAS",
"pos": [
104,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
127,
6
]
}
|
A lack of consensus exists with regards to the relative rates of NRAS and BRAF mutations in the radial (RGP) and vertical (VGP) growth phases of individual melanoma tumors.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
74,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
165,
6
]
}
|
These findings demonstrate that increased PD-1 expression and decreased pSTAT3 expression reduce IL-23 receptor expression and IL-17 production by CD4(+) T cells of tuberculosis patients.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
147,
3
]
}
|
{
"id": "C0041296",
"name": "Tuberculosis",
"pos": [
165,
12
]
}
|
Approximately one quarter of colon cancers with deficient MMR (dMMR) develop as a result of an inherited predisposition syndrome, Lynch syndrome (formerly known as HNPCC).
|
genomic_alterations
|
{
"id": 4292,
"name": "MLH1",
"pos": [
164,
5
]
}
|
{
"id": "C0007102",
"name": "Malignant tumor of colon",
"pos": [
29,
13
]
}
|
Stable thrombus formation on irradiated microvascular endothelial cells under pulsatile flow: Pre-testing annexin V-thrombin conjugate for treatment of brain arteriovenous malformations.
|
biomarker
|
{
"id": 308,
"name": "ANXA5",
"pos": [
106,
9
]
}
|
{
"id": "C0334533",
"name": "Arteriovenous hemangioma",
"pos": [
158,
27
]
}
|
We studied whether CXCR4-MIF associations occur in rat bladder and the effect of experimental cystitis.
|
NA
|
{
"id": 7852,
"name": "CXCR4",
"pos": [
19,
5
]
}
|
{
"id": "C0010692",
"name": "Cystitis",
"pos": [
94,
8
]
}
|
Improper regulation of periostin by the mutant form of TWIST2 could help explain some of the soft tissue abnormalities seen in these patients therefore providing a genotype-phenotype relationship for Setleis Syndrome.
|
NA
|
{
"id": 10631,
"name": "POSTN",
"pos": [
23,
9
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
105,
13
]
}
|
Transfection of ONECUT1 into pancreatic cancer cells resulted in up-regulation of the target gene TCF2, a reduction in invasiveness, but no change in adhesion or growth.
|
NA
|
{
"id": 3175,
"name": "ONECUT1",
"pos": [
16,
7
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
150,
8
]
}
|
Interestingly, ZNF217 was upregulated in GSCs and the GBM cell line U87 when exposed to the hypoxic environment of 1% oxygen.
|
NA
|
{
"id": 677775,
"name": "SCARNA5",
"pos": [
68,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
92,
7
]
}
|
Opposite effects were observed when PSAT1 was knocked down by adenovirus expressing small hairpin RNA specific for PSAT1 (Ad-shPSAT1).
|
NA
|
{
"id": 29968,
"name": "PSAT1",
"pos": [
115,
5
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
62,
10
]
}
|
This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs.
|
NA
|
{
"id": 1312,
"name": "COMT",
"pos": [
238,
4
]
}
|
{
"id": "C0008810",
"name": "Circadian Rhythms",
"pos": [
146,
17
]
}
|
Although the ABL kinase inhibitor imatinib mesylate (Gleevec) provides highly effective treatment for BCR-ABL-positive chronic myelogenous leukemia, it has proven far less efficacious in the treatment of BCR-ABL-positive acute lymphoblastic leukemias (ALLs), many of which sustain deletions of the INK4A-ARF (CDKN2A) tumor suppressor locus.
|
genomic_alterations
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
298,
5
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
317,
5
]
}
|
Magnetic resonance imaging (MRI) and diffusion-weighted investigations (DWIs) showed acute ischemic stroke in the bilateral cerebellum, pons and left occipital regions.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
28,
3
]
}
|
{
"id": "C0948008",
"name": "Ischemic stroke",
"pos": [
91,
15
]
}
|
The results of the present study provide a novel insight into the molecular roles of miR-885-5p in osteosarcoma.
|
biomarker
|
{
"id": 100126334,
"name": "MIR885",
"pos": [
85,
7
]
}
|
{
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
99,
12
]
}
|
SIRT1 overexpression reversed the increased PAI-1 expression in senescent human umbilical vein endothelial cells (HUVECs) and aortas of old mice, accompanied by decreased SA-β-gal activity in vitro and improved endothelial function and reduced arterial stiffness in vivo.
|
NA
|
{
"id": 23411,
"name": "SIRT1",
"pos": [
0,
5
]
}
|
{
"id": "C0599949",
"name": "Arterial Stiffness",
"pos": [
244,
18
]
}
|
After two weeks of treatment with HBP Lotion, 44.5% of the HBP Lotion treated subjects in each study achieved (a) treatment "success" (ie, an IGA score of 0=clear or 1=almost clear and >2 grade improvement compared to baseline) and (b) a notable reduction in plaque elevation, erythema, scaling, and pruritus.
|
genomic_alterations
|
{
"id": 7884,
"name": "SLBP",
"pos": [
59,
3
]
}
|
{
"id": "C0041834",
"name": "Erythema",
"pos": [
280,
8
]
}
|
We demonstrate that protein kinase C-dependent extracellular regulated kinase 1/2 (ERK1/2) activation also switched GD-induced necrosis to apoptosis through inhibition of ROS production possibly by inducing manganese superoxide dismutase (SOD) expression and by preventing GD-induced degradation of copper zinc SOD.
|
NA
|
{
"id": 5595,
"name": "MAPK3",
"pos": [
83,
4
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
127,
8
]
}
|
Our data suggest that IRF-2 plays some role in the development of AD in the Japanese population.
|
biomarker
|
{
"id": 3660,
"name": "IRF2",
"pos": [
22,
5
]
}
|
{
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
66,
2
]
}
|
As a transforming growth factor-β (TGF-β)-inducible gene, the expression of Krüppel-like transcription factor 11 (KLF11) is altered in several types of cancer.
|
NA
|
{
"id": 4779,
"name": "NFE2L1",
"pos": [
89,
23
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
152,
6
]
}
|
A virilized patient with an androgen-producing ovarian tumor was used to illustrate the effect of chronic hyperandrogenism on the adrenal response to ACTH.
|
biomarker
|
{
"id": 5443,
"name": "POMC",
"pos": [
150,
4
]
}
|
{
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
47,
13
]
}
|
We could show that SNP rs4291 influences ACE activity and HPA-axis hyperactivity and might therefore represent a common pathophysiologic link for unipolar depression and cardiovascular disease.
|
NA
|
{
"id": 10855,
"name": "HPSE",
"pos": [
58,
3
]
}
|
{
"id": "C0424295",
"name": "Hyperactive behavior",
"pos": [
67,
13
]
}
|
The RER phenotype, displayed by 17 tumours, was then correlated with the presence of insertions/deletions at the TGF beta RII, IGFIIR and BAX gene stretches, confirming that the TGF beta RII inactivation may be particularly critical for the RER-associated tumorigenesis.
|
NA
|
{
"id": 3550,
"name": "IK",
"pos": [
241,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
256,
13
]
}
|
mRNA levels of the megakaryoblastic leukemia line MEG-01, which were induced to differentiate into megakaryocyte by TPA, decreased rapidly from 2 days after the start of treatment and became almost undetectable at day 4.
|
NA
|
{
"id": 5327,
"name": "PLAT",
"pos": [
116,
3
]
}
|
{
"id": "C0023462",
"name": "Acute Megakaryocytic Leukemias",
"pos": [
19,
25
]
}
|
To understand better the biological and clinical significance of HHV-6 infection in the context of HIV-related immunosuppression, the polymerase chain reaction was used to study the frequency and variant distribution of HHV-6 in peripheral blood mononucleated cells (PBMCs) from HIV-seropositive individuals, either asymptomatic or with lymphadenopathy syndrome (LAS) or with overt AIDS.
|
NA
|
{
"id": 11019,
"name": "LIAS",
"pos": [
363,
3
]
}
|
{
"id": "C0001857",
"name": "AIDS related complex",
"pos": [
337,
24
]
}
|
Recently, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) have been identified as new causal Parkinson's disease (PD) genes, with the VPS35 D620N and EIF4G1 R1205H mutations being identified in both autosomal dominant late-onset familial and sporadic PD patients.
|
NA
|
{
"id": 55737,
"name": "VPS35",
"pos": [
186,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
294,
8
]
}
|
The MHCsTNF mice develop a heart failure phenotype that is characterized by progressive myocardial fibrosis, as well as increased levels transforming growth factor-beta (TGF-beta)(mRNA and protein.
|
NA
|
{
"id": 7040,
"name": "TGFB1",
"pos": [
170,
8
]
}
|
{
"id": "C0151654",
"name": "Myocardial fibrosis",
"pos": [
88,
19
]
}
|
Ten SNPs from FGFR2, TOX3, MAP3K1, H19, LSP1, chromosome 8q24, CASP8, and LUM were investigated for associations with pancreatic cancer risk following genotyping in 1,143 Caucasian individuals with pancreatic adenocarcinoma and 1,097 unaffected controls from a clinic-based pancreatic cancer case-control study.
|
NA
|
{
"id": 841,
"name": "CASP8",
"pos": [
63,
5
]
}
|
{
"id": "C0281361",
"name": "Adenocarcinoma of pancreas",
"pos": [
198,
25
]
}
|
Additionally, repletion of TNF-α(-/-) mice with TNF-α(+/+) CD8(+) T cells significantly enhanced the incidence of hydrosalpinx and oviduct dilatation compared to those of TNF-α(-/-) mice but not to the levels found in wild-type mice, suggesting that TNF-α production from CD8(+) T cells and non-CD8(+) cells cooperates to induce optimal oviduct pathology following genital chlamydial infection.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
295,
3
]
}
|
{
"id": "C0008149",
"name": "Chlamydia Infections",
"pos": [
373,
20
]
}
|
Common variants in RAGE are strongly associated with plasma sRAGE level, which is associated with DKD.
|
genomic_alterations
|
{
"id": 177,
"name": "AGER",
"pos": [
19,
4
]
}
|
{
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
98,
3
]
}
|
Genomic DNA specimens were prepared from five symptomatic and two asymptomatic members of Family K and an additional 39 patients of 39 unrelated families with adRP.
|
NA
|
{
"id": 123,
"name": "PLIN2",
"pos": [
159,
4
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
66,
12
]
}
|
Evidence for linkage between the development of asthma in childhood and the T-cell receptor beta chain gene in Japanese.
|
NA
|
{
"id": 6957,
"name": "TRB",
"pos": [
76,
31
]
}
|
{
"id": "C0004096",
"name": "Asthma",
"pos": [
48,
6
]
}
|
We examined the gene expression of GCLM and GCLC in 39 xenografts of human non-small cell lung cancer [NSCLC; 10 adenocarcinoma (Ad), 17 squamous cell carcinoma (Sq) and 12 large cell carcinoma (La)] by real-time polymerase chain reaction (PCR) with human-specific primers.
|
NA
|
{
"id": 2730,
"name": "GCLM",
"pos": [
35,
4
]
}
|
{
"id": "C0206704",
"name": "Carcinoma, Large Cell",
"pos": [
173,
20
]
}
|
The objective of the study was to identify OSM-regulated genes that could help in understanding the function of OSM in glioma cells.
|
NA
|
{
"id": 83605,
"name": "CCM2",
"pos": [
112,
3
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
119,
6
]
}
|
Expression of the PAX5/BSAP transcription factor in haematological tumour cells and further molecular characterization of the t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
|
NA
|
{
"id": 5079,
"name": "PAX5",
"pos": [
23,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
143,
13
]
}
|
Prevention of N-methyl-N-nitrosourea-induced breast cancer by alpha-fetoprotein (AFP)-derived peptide, a peptide derived from the active site of AFP.
|
therapeutic
|
{
"id": 174,
"name": "AFP",
"pos": [
62,
17
]
}
|
{
"id": "C0024668",
"name": "Mammary Neoplasms, Experimental",
"pos": [
45,
13
]
}
|
CLB serum concentrations did not correlate with seizure reduction rate, but median N-CLB serum concentrations were significantly higher in patients with excellent seizure control (≧ 90 % seizure reduction) compared to those with ≧50 % seizure reduction or with <50 % seizure reduction (1103, 341, and 570 ng/mL, respectively).
|
NA
|
{
"id": 171425,
"name": "CLYBL",
"pos": [
85,
3
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
267,
7
]
}
|
Developing a RelB-targeted therapeutic intervention, which might be coupled with the induction of a tumor suppressor Maspin, is valuable in treating advanced, metastatic prostate cancer.
|
NA
|
{
"id": 5268,
"name": "SERPINB5",
"pos": [
117,
6
]
}
|
{
"id": "C0936223",
"name": "Metastatic Prostate Carcinoma",
"pos": [
159,
26
]
}
|
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
|
NA
|
{
"id": 5979,
"name": "RET",
"pos": [
17,
18
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
96,
8
]
}
|
Slug regulates E-cadherin expression in metastatic adenocarcinoma cells isolated from pleural fluid.
|
NA
|
{
"id": 999,
"name": "CDH1",
"pos": [
15,
10
]
}
|
{
"id": "C0334277",
"name": "Adenocarcinoma, metastatic",
"pos": [
40,
25
]
}
|
The telomerase RNA component (TERC) and the telomerase reverse transcriptase (TERT) were sequenced in 1,121 individuals (521 patients with cirrhosis induced by chronic liver disease and 600 noncirrhosis controls).
|
genomic_alterations
|
{
"id": 7015,
"name": "TERT",
"pos": [
78,
4
]
}
|
{
"id": "C0023890",
"name": "Liver Cirrhosis",
"pos": [
139,
9
]
}
|
Here we show that susceptibility to SCC is under the control of a carboxy-terminal polymorphism in the mouse Ptch gene.
|
genomic_alterations
|
{
"id": 5727,
"name": "PTCH1",
"pos": [
109,
4
]
}
|
{
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
36,
3
]
}
|
Increased expression of the IL17A receptor (IL17RA) was also found in primary myeloma iDCs, which underwent OC-like transdifferentiation after IL17A stimulation.
|
NA
|
{
"id": 23765,
"name": "IL17RA",
"pos": [
44,
6
]
}
|
{
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
78,
7
]
}
|
Although it has been suggested that the electroneutral Na(+)-K(+)-Cl(-) cotransporter 1 (NKCC1) can play a role in glioma cell migration, the precise mechanism by which this ion transporter contributes to GB aggressiveness remains poorly understood.
|
NA
|
{
"id": 6558,
"name": "SLC12A2",
"pos": [
89,
5
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
208,
14
]
}
|
Since the N34S variant of the SPINK1 trypsin inhibitor gene has been found to partially account for genetic susceptibility to chronic pancreatitis, we used a family-based and case-control approach in two separate ethnic groups from the Indian subcontinent, to determine whether N34S was associated with susceptibility to FCPD.
|
genomic_alterations
|
{
"id": 83716,
"name": "CRISPLD2",
"pos": [
37,
17
]
}
|
{
"id": "C0149521",
"name": "Pancreatitis, Chronic",
"pos": [
126,
20
]
}
|
GD = Graves disease; hCG = human chorionic gonadotropin; MMI = methimazole; PPT = postpartum thyroiditis; PTU = propylthiouracil; T3 = triiodothyronine; T4 = thyroxine; TBG = thyroxine-binding globulin; TRAb = TSH receptor antibody; TSH = thyroid-stimulating hormone.
|
biomarker
|
{
"id": 5538,
"name": "PPT1",
"pos": [
76,
3
]
}
|
{
"id": "C0018213",
"name": "Graves Disease",
"pos": [
5,
14
]
}
|
Cortisol-producing hyperplasias, such as primary pigmented nodular adrenocortical disease (PPNAD), which has been associated with protein kinase A (PKA) abnormalities and/or PRKAR1A mutations, also show genomic instability.
|
NA
|
{
"id": 5573,
"name": "PRKAR1A",
"pos": [
174,
7
]
}
|
{
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
203,
19
]
}
|
Our study is the first to clarify the relations of genetic variants of RhoA and ROCK1 genes with development, progression and prognosis of prostate cancer.
|
genomic_alterations
|
{
"id": 6093,
"name": "ROCK1",
"pos": [
80,
5
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
139,
15
]
}
|
Small heterodimer partner blocks cardiac hypertrophy by interfering with GATA6 signaling.
|
NA
|
{
"id": 2627,
"name": "GATA6",
"pos": [
73,
5
]
}
|
{
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
33,
19
]
}
|
Dysfunction of IKZF1/MYC/MDIG axis contributes to liver cancer progression through regulating H3K9me3/p21 activity.
|
biomarker
|
{
"id": 84864,
"name": "RIOX2",
"pos": [
25,
4
]
}
|
{
"id": "C0345904",
"name": "Malignant neoplasm of liver",
"pos": [
50,
12
]
}
|
This study showed that the P. vivax α-tubulin LAMP assay, which can be used to diagnose early infections of vivax malaria, is an alternative molecular diagnostic tool and a point-of-care test that may help to prevent transmission in endemic areas.
|
NA
|
{
"id": 27074,
"name": "LAMP3",
"pos": [
46,
4
]
}
|
{
"id": "C0024537",
"name": "Malaria, Vivax",
"pos": [
108,
13
]
}
|
However, the presence of endoglin on fibroblasts in the perivascular stroma suggests an active role for this protein in vascular remodeling in response to increased blood flow and shear stress.
|
NA
|
{
"id": 2022,
"name": "ENG",
"pos": [
25,
8
]
}
|
{
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
120,
19
]
}
|
In the CDR 1 group, patients with anosognosia had a significantly higher prevalence of delusions ( P = .032), hallucinations ( P = .048), and sleep disturbances ( P = .047).
|
genomic_alterations
|
{
"id": 1038,
"name": "CDR1",
"pos": [
7,
5
]
}
|
{
"id": "C0037317",
"name": "Sleep disturbances",
"pos": [
142,
18
]
}
|
It has been proposed that a specific polymorphism within the ACT gene interacts with APOE to increase the risk of developing AD.
|
genomic_alterations
|
{
"id": 345651,
"name": "ACTBL2",
"pos": [
61,
3
]
}
|
{
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
125,
2
]
}
|
The effects of chloroquine on glial fibrillary acidic protein (GFAP), proliferation cell nuclear antigen (PCNA) and Cyclin D1 in hippocampus and cerebral cortex of rats with seizures induced by pentylenetetrazole (PTZ) were observed in the present study.
|
NA
|
{
"id": 5111,
"name": "PCNA",
"pos": [
106,
4
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
174,
8
]
}
|
In this case-control study we tested a hypothesis that polymorphism of GATA2 gene may be associated with sporadic PD.
|
NA
|
{
"id": 2624,
"name": "GATA2",
"pos": [
71,
10
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
105,
8
]
}
|
Osthole decreases tau protein phosphorylation via PI3K/AKT/GSK-3β signaling pathway in Alzheimer's disease.
|
biomarker
|
{
"id": 207,
"name": "AKT1",
"pos": [
55,
3
]
}
|
{
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
87,
19
]
}
|
These mutations abrogate the ability of PSTPIP1 to bind PTP-PEST and PTP-HSCF, suggesting that these two PTPs may be negative regulators of inflammation.
|
NA
|
{
"id": 5782,
"name": "PTPN12",
"pos": [
56,
8
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
140,
12
]
}
|
Consequently, GLP-1 provides a novel link between the immune system and the gut with strong relevance for metabolic regulation in context of inflammation.
|
NA
|
{
"id": 2641,
"name": "GCG",
"pos": [
14,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
141,
12
]
}
|
The results of in vitro and in vivo studies confirm the involvement of BMI-1 in tumor initiation as well as invasion, metastasis and chemoresistance.
|
biomarker
|
{
"id": 648,
"name": "BMI1",
"pos": [
71,
5
]
}
|
{
"id": "C0598935",
"name": "Tumor Initiation",
"pos": [
80,
16
]
}
|
However, the roles of ACTL6A in the development of ovarian cancer and the regulation of cancer glucose metabolism are mostly unknown.
|
biomarker
|
{
"id": 86,
"name": "ACTL6A",
"pos": [
22,
6
]
}
|
{
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
51,
14
]
}
|
Complement deposition on Du145 cells (human prostate cancer cell line) and anti-MUC1 mAb-mediated complement-dependent lysis of Du145 cells were significantly enhanced by CR2-Fc.
|
biomarker
|
{
"id": 4582,
"name": "MUC1",
"pos": [
80,
4
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
44,
15
]
}
|
The presence of a full mutation in the FMR-1 gene seemed decisive for the occurrence of mental impairment in the patient.
|
genomic_alterations
|
{
"id": 2477,
"name": "FRAXA",
"pos": [
39,
5
]
}
|
{
"id": "C0683322",
"name": "Mental impairment",
"pos": [
88,
17
]
}
|
Quantitative real time-PCR revealed that the mRNA expression levels of S100A2, S100A8, and S100A9 were significantly upregulated in gingival tissues with gingivitis, moderate periodontitis, and severe periodontitis compared to normal tissues.
|
NA
|
{
"id": 6280,
"name": "S100A9",
"pos": [
91,
6
]
}
|
{
"id": "C4025886",
"name": "Severe periodontitis",
"pos": [
194,
20
]
}
|
AM upregulation contributes to neuroprotection, but understanding the precise roles played by AM and its receptor (RAMP2) in neurodegenerative diseases including Alzheimer's disease (AD), awaits further research.
|
biomarker
|
{
"id": 10266,
"name": "RAMP2",
"pos": [
115,
5
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
125,
26
]
}
|
Three SNPs linked to MS pathology-associated genes showed a significant association with either proportion of active lesions (rs3130253/MOG), incidence of cortical gray matter lesions (rs1064395/NCAN) or the proportion of remyelinated lesions (rs5742909/CTLA4).
|
genomic_alterations
|
{
"id": 1493,
"name": "CTLA4",
"pos": [
254,
5
]
}
|
{
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
21,
2
]
}
|
We also briefly review two important advances in this area: the treatment of medulloblastomas in patients with mutations in the PTCH1 gene, and the discovery of deregulated mammalian target of rapamycin as a major oncogenic driver molecule in patients with TSC mutations and subependymal giant cell astrocytoma.
|
genomic_alterations
|
{
"id": 6559,
"name": "SLC12A3",
"pos": [
257,
3
]
}
|
{
"id": "C0205768",
"name": "Subependymal Giant Cell Astrocytoma",
"pos": [
275,
35
]
}
|
Minor-allele carrier status at the LPL SNP was associated with a reduced risk of myocardial infarction in active (hazard ratio, 0.51; 95% confidence interval 0.30-0.86) but not among inactive women (hazard ratio 1.13; 95% confidence interval 0.79 to 1.61; P-interaction=0.007).
|
genomic_alterations
|
{
"id": 4023,
"name": "LPL",
"pos": [
35,
3
]
}
|
{
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
81,
21
]
}
|
NAT1 variants that reduce or abolish enzyme activity appear to protect against spina bifida, and to exert their influence via both the maternal and the offspring genotypes.
|
NA
|
{
"id": 1982,
"name": "EIF4G2",
"pos": [
0,
4
]
}
|
{
"id": "C0080178",
"name": "Spina Bifida",
"pos": [
79,
12
]
}
|
Pretreatment of the animals with BbCI (2.5 mg·kg(-1)), 30 min before carrageenan-induced inflammation, effectively reduced paw oedema and bradykinin release, neutrophil migration into the pleural cavity.
|
NA
|
{
"id": 4827,
"name": "NM",
"pos": [
158,
20
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
89,
12
]
}
|
EXPERIMENTAL DESIGN: MPF and MSLN were assayed with ELISA in 27 consecutive MPM patients and 129 controls including patients with lung cancer and asymptomatic asbestos-exposed subjects.
|
NA
|
{
"id": 10232,
"name": "MSLN",
"pos": [
29,
4
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
146,
12
]
}
|
Then, we provided evidences that miR-545-3p, which served as a tumor promoter, post-transcriptionally regulate MT1M in HCC through binding to its untranslated region (3'UTR).
|
biomarker
|
{
"id": 664614,
"name": "MIR545",
"pos": [
33,
7
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
63,
5
]
}
|
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphadenopathy, hypergammaglobulinemia, accumulation of double-negative TCRalphabeta(+) CD4(-)CD8(-) T cells (DNT cells), and autoimmunity.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
170,
3
]
}
|
{
"id": "C0038002",
"name": "Splenomegaly",
"pos": [
67,
12
]
}
|
In most patients with sporadic endometrial carcinoma, the expression of hMSH2 protein is consistent with PCNA expression.
|
NA
|
{
"id": 5111,
"name": "PCNA",
"pos": [
105,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
22,
8
]
}
|
Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex.
|
NA
|
{
"id": 51542,
"name": "VPS54",
"pos": [
92,
5
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
39,
26
]
}
|
Expression of the breast and ovarian cancer susceptibility gene BRCA1 is down-regulated in sporadic breast and ovarian cancer cases.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
64,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
91,
8
]
}
|
Activation of AMPKa1/mTOR was decreased in diabetic mouse heart tissue and hyperglycemia-stimulated MHECs, which was increased following miR-451 knockdown or inhibition.
|
biomarker
|
{
"id": 574411,
"name": "MIR451A",
"pos": [
137,
7
]
}
|
{
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
75,
13
]
}
|
Acute (7 days) and chronic (8 wk) colitis were induced in wild-type and FXR(-/-) mice by intrarectal administration of trinitrobenzensulfonic acid or by 7-day administration of 5% dextran sulfate in drinking water.
|
NA
|
{
"id": 9971,
"name": "NR1H4",
"pos": [
72,
3
]
}
|
{
"id": "C0009319",
"name": "Colitis",
"pos": [
34,
7
]
}
|
In p53(-/-) PC3 cells both compounds induce p21 and cell cycle arrest, but not Bax translocation or apoptosis, suggesting that both compounds can also induce p21 through a p53-independent mechanism.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
172,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
83,
13
]
}
|
FLT3 abnormalities were associated with leukocytosis (ITD P < 0.01; ATKD P = 0.069), and the monocytic FAB subtypes M4 and M5 [ITD (P < 0.05), ATKD (P = 0.05)], and ITD and ATKD were significantly (P < 0.05) more common in cases with a normal karyotype.
|
genomic_alterations
|
{
"id": 2187,
"name": "FANCB",
"pos": [
106,
3
]
}
|
{
"id": "C0023518",
"name": "Leukocytosis",
"pos": [
40,
12
]
}
|
Polymorphisms in copper/zinc superoxide dismutase (CuZn-SOD), manganese superoxide dismutase (MnSOD), glutathione-S-transferase M1 (GSTM1), and glutathione-S-transferase T1 (GSTT1) in the umbilical cord tissue were assayed by polymerase chain reaction (PCR) in 23 nulliparous preeclampsia cases and 32 nulliparous normotensive controls.
|
NA
|
{
"id": 2952,
"name": "GSTT1",
"pos": [
174,
5
]
}
|
{
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
276,
12
]
}
|
This study aimed to determine the stage in which p53 mutations arise in neoplastic progression in Barrett's esophagus and their relationship to the clonal evolution of cancer.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
49,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
168,
6
]
}
|
Supernatants from TNF-alpha-treated, but not control-treated, cell lines increased eosinophil adhesion to fibronectin and increased eosinophil transmigration across fibronectin-coated transwell plates.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
18,
9
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
94,
8
]
}
|
S100A8 and S100A9 in atherosclerotic plaque and calcifying matrix vesicles may significantly influence redox- and Ca2+-dependent processes during atherogenesis and its chronic complications, particularly dystrophic calcification.
|
NA
|
{
"id": 760,
"name": "CA2",
"pos": [
114,
3
]
}
|
{
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
146,
13
]
}
|
We examined the effects of EPA, especially to focus on nuclear factor kappa B (NF-κB), using Thy-1 nephritis models.
|
NA
|
{
"id": 7076,
"name": "TIMP1",
"pos": [
27,
3
]
}
|
{
"id": "C0027697",
"name": "Nephritis",
"pos": [
99,
9
]
}
|
PSK also showed anti-tumor effects in vivo, inhibited invasiveness of PDAC cells, and decreased the expression of HIF-1α and hedgehog (Hh) signaling-related molecules under hypoxia.
|
NA
|
{
"id": 9344,
"name": "TAOK2",
"pos": [
0,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
173,
7
]
}
|
Four different probes from the 1p36 region, the E2F2, NPPA, D1S160, and CDC2L1 loci were used for detection of 1p abnormalities.
|
NA
|
{
"id": 984,
"name": "CDK11B",
"pos": [
72,
6
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
114,
13
]
}
|
Molecular characterization of an EWSR1-POU5F1 fusion associated with a t(6;22) in an undifferentiated soft tissue sarcoma.
|
genomic_alterations
|
{
"id": 5460,
"name": "POU5F1",
"pos": [
39,
6
]
}
|
{
"id": "C2188153",
"name": "Undifferentiated/Unclassified Sarcoma",
"pos": [
85,
36
]
}
|
Using the sib-pair methods, evidence for linkage was found with orosomucoid (ORM) on chromosome 9q (p = 0.006), regardless of whether only individuals with unipolar depression, alcoholism, or antisocial personality were considered to be affected, or whether individuals with any psychiatric disorder were considered to be affected.
|
NA
|
{
"id": 498,
"name": "ATP5F1A",
"pos": [
77,
3
]
}
|
{
"id": "C0041696",
"name": "Unipolar Depression",
"pos": [
156,
19
]
}
|
Transduction of primary HSCs or myeloid leukemia cells with lentiviral CREB shRNAs resulted in decreased proliferation of stem cells, cell- cycle abnormalities, and inhibition of CREB transcription.
|
NA
|
{
"id": 1385,
"name": "CREB1",
"pos": [
179,
4
]
}
|
{
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
32,
16
]
}
|
There was a statistically significant association between the combined GSTM1 and GSTT1 null genotypes (M-/T-) and mammographic density in post menopausal women (p = 0.031).
|
NA
|
{
"id": 2944,
"name": "GSTM1",
"pos": [
71,
5
]
}
|
{
"id": "C1268717",
"name": "Mammographic Breast Density",
"pos": [
114,
20
]
}
|
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