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We studied the correlation of hepatic expression of death receptors: Fas and tumour necrosis factor-alpha receptor 1 (TNF-R1), and downstream caspase (caspase-3) with hepatic steatosis by immunohistochemical study in chronic hepatitis C and determined the role of nuclear factor-kappaB (NF-kappaB).
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
287,
9
]
}
|
{
"id": "C2711227",
"name": "Steatohepatitis",
"pos": [
167,
17
]
}
|
During a decade of study, genetic variation in perilipin 1 has been consistently but not invariably associated with body weight and obesity-related complications.
|
NA
|
{
"id": 5346,
"name": "PLIN1",
"pos": [
47,
11
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
116,
11
]
}
|
A favorable effect on GFR of MTHFR polymorphism is presented independently by the negative effects of LVH, increased intra-renal arterial resistance, and hyperparathyroidism; GFR is the significant predictive factor to LVH.
|
genomic_alterations
|
{
"id": 4524,
"name": "MTHFR",
"pos": [
29,
5
]
}
|
{
"id": "C0020502",
"name": "Hyperparathyroidism",
"pos": [
154,
19
]
}
|
The presence of sEng did not significantly affect the expression of selected members of TGF-β signaling (membrane endoglin, TGFβRII, ALK-5, ALK-1, Id-1, PAI-1 and activated Smad proteins-pSmad 1,5 and pSmad 2,3), inflammation, heart remodeling (PDGFb, Col1A1) and endothelial dysfunction (VCAM-1, ICAM-1) in the hearts of Sol-Eng+ mice compared to control mice on both chow and high-fat diet.
|
genomic_alterations
|
{
"id": 7412,
"name": "VCAM1",
"pos": [
289,
6
]
}
|
{
"id": "C0856169",
"name": "Endothelial dysfunction",
"pos": [
264,
23
]
}
|
The sole radiographic response occurred in a patient whose pretreatment tumor specimen harbored an EGFR exon 19 deletion.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
99,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
72,
5
]
}
|
TrkA and p75 were positively correlated and were respectively associated with the histoprognostic grading and the tumor type.
|
biomarker
|
{
"id": 8570,
"name": "KHSRP",
"pos": [
9,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
114,
5
]
}
|
Therefore, SOD1 mutations were present in 20.0% of familial ALS patients and 1.9% of sporadic ALS patients, while FUS mutations were responsible for 13.3% of familial ALS cases, and TARDBP mutations were rare in either familial or sporadic ALS cases.
|
NA
|
{
"id": 6647,
"name": "SOD1",
"pos": [
11,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
231,
8
]
}
|
In this study, we determined whether the Kiss-1 gene negatively regulates MMP-9 expression. cDNA microarray technology was used to identify the genes associated with metastasis by hepatocyte growth factor (HGF) in the gastric cancer cell lines, NUGC-3 and MKN-28.
|
genomic_alterations
|
{
"id": 3814,
"name": "KISS1",
"pos": [
41,
6
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
166,
10
]
}
|
We found significant changes in 61 miRNAs, of which the expression of miR23a was correlated with the patients' pulmonary function.
|
NA
|
{
"id": 407010,
"name": "MIR23A",
"pos": [
70,
6
]
}
|
{
"id": "C3160731",
"name": "Pulmonary function (finding)",
"pos": [
111,
18
]
}
|
In contrast, there were no significant changes of τSD in asymptomatic c9orf72 mutation carriers (P = .42).
|
NA
|
{
"id": 203228,
"name": "C9orf72",
"pos": [
70,
7
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
57,
12
]
}
|
The PARP inhibitor olaparib was recently granted Food and Drug Administration (FDA) accelerated approval in patients with advanced BRCA1/2 mutation ovarian cancer.
|
genomic_alterations
|
{
"id": 1302,
"name": "COL11A2",
"pos": [
4,
4
]
}
|
{
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
148,
14
]
}
|
Mutations in the p16INK4A cyclin-dependent kinase inhibitor (CDI) gene at this locus have implicated the product of this gene as a tumor suppressor.
|
genomic_alterations
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
17,
8
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
131,
5
]
}
|
Here, we reconstructed haplotypes of the SLC10A2 gene locus and tested for association with non-syndromic familial and sporadic CRC compared to 'hyper-normal' controls who displayed no colorectal polyps on screening colonoscopy.
|
NA
|
{
"id": 6555,
"name": "SLC10A2",
"pos": [
41,
12
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
119,
8
]
}
|
Furthermore, the expression of the MCP-1 gene in vessel-associated cells may indicate its involvement in mechanisms regulating the adhesion of blood monocytes to endothelial cells.
|
NA
|
{
"id": 6347,
"name": "CCL2",
"pos": [
35,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
131,
8
]
}
|
To investigate the role of NLRC5 in the activation and reversion of HSCs induced with transforming growth factor-β (TGF-β) and MDI, and to explore its relationship with liver fibrosis.
|
biomarker
|
{
"id": 4096,
"name": "MAFD2",
"pos": [
127,
3
]
}
|
{
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
169,
14
]
}
|
An investigation of the adhesiveness of PSK-stimulated colon cancer cells to vascular endothelial cells also showed that the adhesion rate decreased significantly compared with cells not exposed to PSK.
|
NA
|
{
"id": 9344,
"name": "TAOK2",
"pos": [
198,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
125,
8
]
}
|
Our clinical findings of an autosomal-recessive ectodermal dysplasia syndrome provide insight into the role of GRHL2 in skin development, homeostasis, and human disease.
|
NA
|
{
"id": 79977,
"name": "GRHL2",
"pos": [
111,
5
]
}
|
{
"id": "C0013575",
"name": "Ectodermal Dysplasia",
"pos": [
48,
29
]
}
|
In conclusion, interphase FISH using DDIT3 and FUS probes identifies the characteristic translocation in myxoid liposarcoma.
|
NA
|
{
"id": 2521,
"name": "FUS",
"pos": [
47,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
88,
13
]
}
|
Isodicentric chromosome 13, idic(13)(p11.2), is a very rare chromosomal aberration in acute myeloid leukemia (AML).
|
NA
|
{
"id": 8909,
"name": "ENDOU",
"pos": [
37,
3
]
}
|
{
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
86,
22
]
}
|
At the lead site, nNO was prospectively measured in individuals later confirmed to have PCD by ciliary ultrastructural defects (n = 143) or DNAH11 mutations (n = 6); and in 78 healthy and 146 disease control subjects, including individuals with asthma (n = 37), cystic fibrosis (n = 77), and chronic obstructive pulmonary disease (n = 32).
|
genomic_alterations
|
{
"id": 8701,
"name": "DNAH11",
"pos": [
140,
6
]
}
|
{
"id": "C4551720",
"name": "Primary Ciliary Dyskinesia",
"pos": [
88,
3
]
}
|
We investigated the association between angiotensinogen (AGT) and angiotensin-converting enzyme (ACE) gene polymorphisms and exercise training responses of resting and exercise blood pressure (BP).
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
97,
3
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
177,
14
]
}
|
In patients with a family history, the methylation frequency ranged from 4.0% for TIMP3 to 44.4% for MGMT, whereas, in patients with sporadic colorectal cancer, it ranged from 6.7% for TIMP3 to 50.0% for p16.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
204,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
133,
8
]
}
|
Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.
|
NA
|
{
"id": 10611,
"name": "PDLIM5",
"pos": [
61,
3
]
}
|
{
"id": "C0027126",
"name": "Myotonic Dystrophy",
"pos": [
104,
18
]
}
|
The presence of chorea, sensorimotor neuropathy, oculomotor anomalies, biological abnormalities, cerebellar atrophy on MRI and absence of the Babinski sign can help to distinguish AOA1 from Friedreich's ataxia on a clinical basis.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
119,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
82,
13
]
}
|
Here we show, in an optic nerve crush model of axonal injury, that adenoviral (cytomegalovirus promoter) overexpression of the acetyltransferase p300, which is regulated during retinal ganglion cell maturation and repressed in the adult, can promote axonal regeneration of the optic nerve beyond 0.5 mm.
|
NA
|
{
"id": 2033,
"name": "EP300",
"pos": [
145,
4
]
}
|
{
"id": "C1854454",
"name": "Axonal regeneration",
"pos": [
250,
19
]
}
|
The rate of regression was 71.8% (40.8-86.5%) in patients with HLA-DRB1*13 and 45.9% (31.5-57.2%) in patients with other genotypes (P =.03).
|
NA
|
{
"id": 3123,
"name": "HLA-DRB1",
"pos": [
63,
8
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
12,
10
]
}
|
This review is focused on recent findings on the neuronal K(V)7 channelopathies, in particular on benign familial neonatal seizures (BFNS) and peripheral nerve hyperexcitability (PNH, neuromyotonia, myokymia) caused by KCNQ2 mutations.
|
NA
|
{
"id": 3785,
"name": "KCNQ2",
"pos": [
219,
5
]
}
|
{
"id": "C1720983",
"name": "Channelopathies",
"pos": [
64,
15
]
}
|
The results indicate that FGF2 expression deeply affects the initial tumor growth and neovascularization of HEC-1-B human endometrial adenocarcinoma in nude mice.
|
NA
|
{
"id": 10403,
"name": "NDC80",
"pos": [
108,
3
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
86,
18
]
}
|
We conclude that dual-colour CISH represents an excellent alternative to FISH for determination of TOP2A gene status in invasive breast cancer.
|
NA
|
{
"id": 1154,
"name": "CISH",
"pos": [
29,
4
]
}
|
{
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
120,
22
]
}
|
Loss of PHD3 allows tumours to overcome hypoxic growth inhibition and sustain proliferation through EGFR.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
100,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
40,
7
]
}
|
We previously reported that activation of P2X7, P2Y6, and P2Y12 receptors is involved in the DNA damage response after γ-irradiation of human lung adenocarcinoma A549 cells.
|
biomarker
|
{
"id": 64805,
"name": "P2RY12",
"pos": [
58,
5
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
142,
19
]
}
|
As a consequence of elevated NAG7 expression, the adhesion, migration, and invasive capabilities of HNE1 cells in vitro and in vivo were enhanced.
|
NA
|
{
"id": 29931,
"name": "LINC00312",
"pos": [
29,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
50,
8
]
}
|
The influence of I/D ACE polymorphism on the left ventricle hypertrophy is divergent in women and men--in women related to the lack of DD polymorphism, in men related to the presence of DD polymorphism.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
21,
3
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
60,
11
]
}
|
The aim of this review was to merge findings of OPRM1 gene studies in relation to smoking behaviors and to elaborate on the underlying biological mechanism of the A118G variant.
|
NA
|
{
"id": 4988,
"name": "OPRM1",
"pos": [
48,
10
]
}
|
{
"id": "C1519383",
"name": "Smoking Behaviors",
"pos": [
82,
17
]
}
|
We previously developed 3 sputum miRNA biomarkers and 2 sputum small nucleolar RNA (snoRNA) biomarkers that can potentially be used for noninvasively diagnosing lung cancer.
|
biomarker
|
{
"id": 84546,
"name": "SNORD35B",
"pos": [
84,
6
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
161,
11
]
}
|
Only STK39 rs3754777 was significantly associated with higher DBP (P = 0.02) in the overweight subjects.
|
NA
|
{
"id": 1628,
"name": "DBP",
"pos": [
62,
3
]
}
|
{
"id": "C0497406",
"name": "Overweight",
"pos": [
84,
10
]
}
|
The heparan sulfate proteoglycan syndecan-3 (SDC3) is a novel regulator of feeding behavior and body weight.
|
NA
|
{
"id": 6383,
"name": "SDC2",
"pos": [
4,
28
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
96,
11
]
}
|
In most patients, the cytogenetic abnormality is a t(8;13)(p12;q12) that fuses fibroblast growth factor receptor 1, the 8p12 key gene, to FIM/ZNF198 gene.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
60,
3
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
23,
23
]
}
|
A specific set of five loci linked to an increased loss of heterozygosity and allelic imbalance in the stroma of sporadic tumors was associated with nodal metastases in the absence of TP53 mutations.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
184,
4
]
}
|
{
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
155,
10
]
}
|
Two hundred women (150 pre-menopausal and 50 post-menopausal) with ASC- US and LSIL cytology who attended the colposcopy clinic, Thammasat University Hospital, between March 2013 and August 2014 were included.
|
biomarker
|
{
"id": 29108,
"name": "PYCARD",
"pos": [
67,
3
]
}
|
{
"id": "C1302773",
"name": "Low Grade Squamous Intraepithelial Neoplasia",
"pos": [
79,
4
]
}
|
Analyses of receiver operating characteristic curves for differentiating TPE from non-TB effusions produced the following results for the area under the curve (AUC) for CXCL9, CXCL11, IFN-γ and ADA, respectively: 0.982, 0.952, 0.982, and 0.952.
|
biomarker
|
{
"id": 4283,
"name": "CXCL9",
"pos": [
169,
5
]
}
|
{
"id": "C2959467",
"name": "Tuberculous pleural effusion",
"pos": [
73,
3
]
}
|
cDNA clone 10k4 as well as a chimeric clone 13g3, codes for a zinc-finger domain of the RING type and shares homology to some known genes involved in tumorigenesis (RET finger protein, BRCA1) and embryogenesis (MID1).
|
NA
|
{
"id": 4281,
"name": "MID1",
"pos": [
211,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
150,
13
]
}
|
An I313K mutation within the selectivity filter of KCNQ1 results in a dominant-negative loss of channel function, leading to a long QT interval and subsequent syncope.
|
genomic_alterations
|
{
"id": 3784,
"name": "KCNQ1",
"pos": [
51,
5
]
}
|
{
"id": "C0039070",
"name": "Syncope",
"pos": [
159,
7
]
}
|
We therefore studied HIF-1α overexpression in ductal carcinoma in situ (DCIS), an established precursor of invasive breast cancer.We used immunohistochemistry to examine the expression of the hypoxia markers HIF-1α, CAIX and Glut-1 in DCIS and available invasive carcinoma lesions of 32 BRCA1, 16 BRCA2 and 77 non-BRCA mutation-related cases.
|
NA
|
{
"id": 675,
"name": "BRCA2",
"pos": [
297,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
192,
7
]
}
|
We have tested whether combination therapy with Thoc1/p84 and p53 is more effective than single gene therapy in a p53-resistant tumor model of human pancreatic adenocarcinoma.
|
NA
|
{
"id": 54776,
"name": "PPP1R12C",
"pos": [
54,
3
]
}
|
{
"id": "C0281361",
"name": "Adenocarcinoma of pancreas",
"pos": [
149,
25
]
}
|
These disorders lead to intracellular Cbl depletion which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid (MMA), and methionine depletion.
|
NA
|
{
"id": 23531,
"name": "MMD",
"pos": [
161,
3
]
}
|
{
"id": "C0030312",
"name": "Pancytopenia",
"pos": [
87,
19
]
}
|
To date there has been one previous report of MRI of the brain in cerebrotendinous xanthomatosis and none of the spinal cord.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
46,
3
]
}
|
{
"id": "C0238052",
"name": "Xanthomatosis, Cerebrotendinous",
"pos": [
66,
30
]
}
|
Hypoxia-inducible factor-1α (HIF-1α) and differentiated embryo-chondrocyte expressed gene 1 (DEC1) are two key factors that protect hepatocellular carcinoma (HCC) cells from a hypoxic microenvironment.
|
NA
|
{
"id": 8553,
"name": "BHLHE40",
"pos": [
93,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
176,
7
]
}
|
After serum shock, both types of cells showed clear circadian expressions of Bmal1, Cry1, Cry2, Per1, Per2, Per3 and Rev-erbα mRNA; meanwhile the Clock mRNA show a rhythmic expression in plaque-derived SMCs but not in normal carotid VSMCs.
|
NA
|
{
"id": 5187,
"name": "PER1",
"pos": [
96,
4
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
187,
6
]
}
|
Lung adenocarcinoma in eight patients transformed into high-grade neuroendocrine carcinoma and retained the original activating EGFR mutations after targeted therapy by TKIs.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
128,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
0,
19
]
}
|
The overgrowth condition (MIM 117550) is characterized by facial anomalies, macrocephaly, advanced bone age, and learning disabilities.
|
NA
|
{
"id": 9788,
"name": "MTSS1",
"pos": [
26,
3
]
}
|
{
"id": "C1849265",
"name": "Overgrowth",
"pos": [
4,
10
]
}
|
Over-expression of phosphoprotein enriched in diabetes/phosphoprotein enriched in astrocytes (PED/PEA-15) causes insulin resistance by interacting with the D4 domain of phospholipase D1 (PLD1).
|
NA
|
{
"id": 8682,
"name": "PEA15",
"pos": [
98,
6
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
113,
18
]
}
|
Two isoforms of extracellular regulated kinase (ERK), namely ERK-1 and ERK-2, are associated with several cellular processes, the aberration of which leads to cancer.
|
genomic_alterations
|
{
"id": 5594,
"name": "MAPK1",
"pos": [
71,
5
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
159,
6
]
}
|
Thus, 131I-EGFR-BSA-PCL may provide a new method for glioblastoma treatment.
|
biomarker
|
{
"id": 2324,
"name": "FLT4",
"pos": [
20,
3
]
}
|
{
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
53,
12
]
}
|
In this study, the frequency of polymorphisms in the genes coding for interleukin (IL)-1alpha, IL-1beta and the IL-1 receptor antagonist (RN) and their genotype associations with late-onset AD and VaD were determined in a Japanese-American cohort of men (n=931) participating in the Honolulu-Asia Aging Study (HAAS).
|
genomic_alterations
|
{
"id": 3552,
"name": "IL1A",
"pos": [
112,
4
]
}
|
{
"id": "C0011269",
"name": "Dementia, Vascular",
"pos": [
197,
3
]
}
|
Levels of VE-cadherin, which were the most significantly reduced in ESRD (p = 0.001) inversely correlated in all of the patient population with serum urea and creatinine concentration, whereas among the ESRD group showed an inverse correlation with diastolic blood pressure (BP), interventricular septum thickness (IVST), and left ventricular mass index.
|
NA
|
{
"id": 1003,
"name": "CDH5",
"pos": [
10,
11
]
}
|
{
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
249,
24
]
}
|
This study investigated the association between PTX3 gene polymorphisms and pulmonary aspergillosis in a chronic obstructive pulmonary disease (COPD) population.
|
genomic_alterations
|
{
"id": 5806,
"name": "PTX3",
"pos": [
48,
4
]
}
|
{
"id": "C2350529",
"name": "Pulmonary Aspergillosis",
"pos": [
76,
23
]
}
|
Secreted Ectodomain of SIGLEC-9 and MCP-1 Synergistically Improve Acute Liver Failure in Rats by Altering Macrophage Polarity.
|
biomarker
|
{
"id": 27180,
"name": "SIGLEC9",
"pos": [
23,
8
]
}
|
{
"id": "C0162557",
"name": "Liver Failure, Acute",
"pos": [
66,
19
]
}
|
Univariate and multivariate analyses identified HCV genotype 2 or 3 (odds ratio [OR], 10.3; 95% confidence interval [CI], 2.08-50.2; P = .004), IL28B CC variants (OR, 2.92; 95% CI, 1.33-6.41; P = .007), nonadvanced liver fibrosis (OR, 2.27; 95% CI, 1.06-5.01; P = .03), and rapid virological response (OR, 40.3; 95% CI, 5.1-314.1; P < .001) as predictors of SVR.
|
genomic_alterations
|
{
"id": 282617,
"name": "IFNL3",
"pos": [
144,
5
]
}
|
{
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
215,
14
]
}
|
The SUVmax of PTCs was significantly higher if they carried the BRAF V600E mutation (11.3 ± 2.0, compared with 5.7 ± 1.4 for wild type BRAF tumors, Mann-Whitney test, p = 0.016).
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
64,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
140,
6
]
}
|
We demonstrated that cultures derived from PCa tissues harvested after NHT presented significantly higher EGFR and Her2 levels compared to cultures derived from control patients.
|
therapeutic
|
{
"id": 1956,
"name": "EGFR",
"pos": [
106,
4
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
43,
3
]
}
|
Recombinant maspin has been shown to specifically inhibit cell surface-associated urokinase-type plasminogen activator (uPA) and fibrinogen-bound tissue-type plasminogen activator.
|
NA
|
{
"id": 5268,
"name": "SERPINB5",
"pos": [
12,
6
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
129,
10
]
}
|
The actions of PGE2 are mediated via four main prostanoid receptors, designated EP1, EP2, EP3 and EP4, based on their different pharmacological properties and secondary messenger pathways.
|
NA
|
{
"id": 5732,
"name": "PTGER2",
"pos": [
85,
3
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
159,
9
]
}
|
In this study, we investigated the cancer chemopreventive effects and the underlying molecular mechanisms of dietary administration of SFN and DBM alone or in combination in the ApcMin/+ mice model.
|
NA
|
{
"id": 25996,
"name": "REXO2",
"pos": [
135,
3
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
35,
6
]
}
|
Differential effects of adenovirus-p16 on bladder cancer cell lines can be overcome by the addition of butyrate.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
35,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
24,
10
]
}
|
The purpose of this study was to assess whether the NAT2 genotype is a risk factor for periodontal disease in Caucasian patients suffering from adult periodontitis.
|
NA
|
{
"id": 10,
"name": "NAT2",
"pos": [
52,
4
]
}
|
{
"id": "C0266929",
"name": "Chronic Periodontitis",
"pos": [
144,
19
]
}
|
MAPT mutations and clinical diagnosis of PNFA and CBD were associated with tau-positive pathology.
|
genomic_alterations
|
{
"id": 4137,
"name": "MAPT",
"pos": [
0,
4
]
}
|
{
"id": "C3887938",
"name": "Deuteranomaly",
"pos": [
50,
3
]
}
|
Together these data indicate that p.K7del is a common recurrent TPM2 mutation associated with mild nemaline myopathy.
|
NA
|
{
"id": 7169,
"name": "TPM2",
"pos": [
64,
4
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
94,
4
]
}
|
We found genes involved in integrin signaling (TLN1), survival (YAP1, BIRC2), and adhesion and migration (TLN1, LAMA3, MMP7), as well as members of the hedgehog (GLI2) and notch (JAG1, RBPSUH, FJX1) pathways to be amplified and overexpressed.
|
NA
|
{
"id": 24147,
"name": "FJX1",
"pos": [
193,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
82,
8
]
}
|
Our study demonstrates that TRAF6 is not required for atherogenesis in mice and does not associate with clinical disease in humans.
|
NA
|
{
"id": 7189,
"name": "TRAF6",
"pos": [
28,
5
]
}
|
{
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
54,
13
]
}
|
However, acute splenic sequestration, acute chest syndrome, nephrotic syndrome, and stroke have been reported in SCD patients following HPV B19 infection.
|
NA
|
{
"id": 59271,
"name": "EVA1C",
"pos": [
140,
3
]
}
|
{
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
84,
6
]
}
|
Immunoreactive MP/PSTI-61 was detected in the liver after induction of the inflammation (152.5 +/- 16.5 ng/g wet weight), but in the normal rat liver there was no immunoreactive MP/PSTI-61.
|
NA
|
{
"id": 6690,
"name": "SPINK1",
"pos": [
181,
4
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
113,
6
]
}
|
In particular, it is also presumed that endothelial nitric oxide synthase is closely associated with menorrhagia and dysmenorrhea.
|
NA
|
{
"id": 4846,
"name": "NOS3",
"pos": [
40,
33
]
}
|
{
"id": "C0025323",
"name": "Menorrhagia",
"pos": [
101,
11
]
}
|
Patients with reduced activity of galactokinase or galactose-1-phosphate uridyl transferase (presumed heterozygotes) compose about 1% of the general population, appear to be more susceptible to idiopathic presenile cataract formation, and may be more prone to secondary cataract formation after a variety of lenticular insults.
|
genomic_alterations
|
{
"id": 2592,
"name": "GALT",
"pos": [
51,
40
]
}
|
{
"id": "C4721766",
"name": "Unspecified secondary cataract",
"pos": [
260,
18
]
}
|
No correlation between the hypermethylation and RAR beta2 loss was found, suggesting that hypermethylation is not fully responsible for the loss of expression of the RAR beta2 gene during breast tumorigenesis.
|
NA
|
{
"id": 10966,
"name": "RAB40B",
"pos": [
166,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
195,
13
]
}
|
Our results indicate that +3954C>T polymorphism of IL1B gene increase susceptibility to inflammatory response of gastric mucosa H. pylori-infected patients and plays a significant role in the development of chronic gastritis, atrophy, intestinal metaplasia, dysplasia and the initiation of carcinogenesis.
|
genomic_alterations
|
{
"id": 3553,
"name": "IL1B",
"pos": [
54,
4
]
}
|
{
"id": "C0334037",
"name": "Intestinal metaplasia",
"pos": [
238,
21
]
}
|
Expression of MKK4/SEK1 protein varied widely among human A375, A375SM and SB2 melanoma, PC-3 and DU145 prostate cancer, and MDA-MB-231 breast cancer cell lines and within the different lines.
|
NA
|
{
"id": 692094,
"name": "MSMP",
"pos": [
89,
4
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
79,
8
]
}
|
The anti-CD105 antibody conjugated with immunotoxins and immunoradioisotopes efficiently suppressed/abrogated tumor growth in murine models bearing breast and colon carcinoma without any significant systemic side effects.
|
NA
|
{
"id": 2022,
"name": "ENG",
"pos": [
9,
5
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
159,
15
]
}
|
Crizotinib is a tyrosine kinase inhibitor (TKI) approved for the treatment of non-small cell lung cancers (NSLCL) and lymphomas expressing activating translocations or mutations of oncogenic tyrosine kinases (in particular ALK and ROS1).
|
genomic_alterations
|
{
"id": 6098,
"name": "ROS1",
"pos": [
231,
4
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
118,
9
]
}
|
The association between tumour markers, including SF, CEA, and EGFR mutation, and their impact on the prognosis of patients taking EGFR-TKIs was investigated.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
63,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
24,
6
]
}
|
Retinoic acid inducible gene I (RIG-I) is a viral RNA sensor crucial in defense against several viruses including measles, influenza A and hepatitis C. RIG-I activates type-I interferon signalling through the adaptor for mitochondrial antiviral signaling (MAVS).
|
NA
|
{
"id": 57506,
"name": "MAVS",
"pos": [
256,
4
]
}
|
{
"id": "C0025007",
"name": "Measles",
"pos": [
114,
7
]
}
|
Although IL10 promoter polymorphisms are associated with increased atopy risk, IL10 variation has not been thoroughly explored in schistosomiasis-endemic populations.
|
NA
|
{
"id": 3586,
"name": "IL10",
"pos": [
79,
4
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
67,
5
]
}
|
Associations of LBX1 gene and adolescent idiopathic scoliosis susceptibility: a meta-analysis based on 34,626 subjects.
|
genomic_alterations
|
{
"id": 10660,
"name": "LBX1",
"pos": [
16,
4
]
}
|
{
"id": "C0410702",
"name": "Adolescent idiopathic scoliosis",
"pos": [
30,
31
]
}
|
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
|
therapeutic
|
{
"id": 5071,
"name": "PRKN",
"pos": [
35,
11
]
}
|
{
"id": "C0752105",
"name": "Parkinsonism, Juvenile",
"pos": [
118,
19
]
}
|
Effect of the ABO blood group on susceptibility to severe malaria: A systematic review and meta-analysis.
|
genomic_alterations
|
{
"id": 28,
"name": "ABO",
"pos": [
14,
3
]
}
|
{
"id": "C2747816",
"name": "Complicated malaria",
"pos": [
51,
14
]
}
|
To study the differences in computed tomographic (CT) characteristics between patients with advanced lung adenocarcinoma who have anaplastic lymphoma kinase (ALK) gene rearrangement and those who have epidermal growth factor receptor (EGFR) mutations.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
235,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
101,
19
]
}
|
The SMA-diagnosing system, combined with the mailing of DBS on filter paper, will be beneficial for patients suffering from neuromuscular disorders in areas with limited or no access to diagnostic facilities with molecular capabilities.
|
NA
|
{
"id": 4036,
"name": "LRP2",
"pos": [
56,
3
]
}
|
{
"id": "C0027868",
"name": "Neuromuscular Diseases",
"pos": [
124,
23
]
}
|
A combination of hypoxia and hypertrophy can induce the adverse effect of PLN-Ser16 dephosphorylation.
|
NA
|
{
"id": 5350,
"name": "PLN",
"pos": [
74,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
17,
7
]
}
|
However, COX-2 mRNA expression in nasal polyps from the AIAR group (0.38 +/- 0.10) was markedly and significantly lower than in polyps from the ATAR group (2.93 +/- 0.
|
NA
|
{
"id": 8764,
"name": "TNFRSF14",
"pos": [
144,
4
]
}
|
{
"id": "C0027430",
"name": "Nasal Polyps",
"pos": [
34,
12
]
}
|
Aberrant CFTR expression probably explains the subtle abnormalities in renal concentrating and diluting ability described in cystic fibrosis and possibly the increased incidence of nephrocalcinosis.
|
NA
|
{
"id": 1080,
"name": "CFTR",
"pos": [
10,
4
]
}
|
{
"id": "C0027709",
"name": "Nephrocalcinosis",
"pos": [
182,
16
]
}
|
Phase 1 trial of intranodal injection of a Melan-A/MART-1 DNA plasmid vaccine in patients with stage IV melanoma.
|
biomarker
|
{
"id": 388015,
"name": "RTL1",
"pos": [
51,
6
]
}
|
{
"id": "C4520732",
"name": "Stage IV Cutaneous Melanoma AJCC v6 and v7",
"pos": [
95,
17
]
}
|
We had proposed previously a novel combination of beta2-adrenoreceptor (AR) agonist and beta1-AR blocker that in the rat model of postmyocardial infarction (MI) dilated cardiomyopathy exceeds the therapeutic effectiveness of either monotherapy.
|
NA
|
{
"id": 4760,
"name": "NEUROD1",
"pos": [
50,
5
]
}
|
{
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
169,
14
]
}
|
In vivo, Ad-TbetaRIIDeltacyt reduced liver fibrosis, increased nuclear SnoN in sinusoidal cells, and also produced significant suppression in collagen alpha1 (I), TGF-beta1, PAI-1, MMP-2 and over-expression in MMP-3 in thioacetamide-intoxicated animals.
|
NA
|
{
"id": 6498,
"name": "SKIL",
"pos": [
71,
4
]
}
|
{
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
37,
14
]
}
|
The very limited current data on the role of lipoxygenase (LOX) metabolism in tumorigenesis suggests that the oxidative metabolism of linoleic and arachidonic acid possibly shifts from producing antitumorigenic 15-LOX-1 and 15-LOX-2 products to producing protumorigenic 5-LOX and 12-LOX products.
|
NA
|
{
"id": 247,
"name": "ALOX15B",
"pos": [
224,
8
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
78,
13
]
}
|
Pathogenic variants involve the subunit interfaces or inter-domain hinges of C1r and C1s and are associated with intracellular retention and mild endoplasmic reticulum enlargement.
|
NA
|
{
"id": 715,
"name": "C1R",
"pos": [
77,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
141,
4
]
}
|
Induction of PTPRF by cell-cell contact during cell proliferation quenched the activated ERK-dependent proliferation signaling to prevent cell hyperproliferation and tumor initiation.
|
NA
|
{
"id": 5792,
"name": "PTPRF",
"pos": [
13,
5
]
}
|
{
"id": "C0598935",
"name": "Tumor Initiation",
"pos": [
166,
16
]
}
|
Candidate tumour suppressor genes in deleted FMCR included RASSF3, IFNAR1, IFNAR2 and NFKBIA and candidate oncogenes in gained FMCR included PRDM16, TNS1, RPA3 and KCNMA1.
|
NA
|
{
"id": 7145,
"name": "TNS1",
"pos": [
149,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
10,
6
]
}
|
It is suggested that PLC isozyme-changes may contribute to the alterations in calcium homeostasis in myocardial ischemia.
|
NA
|
{
"id": 3339,
"name": "HSPG2",
"pos": [
21,
3
]
}
|
{
"id": "C0151744",
"name": "Myocardial Ischemia",
"pos": [
101,
19
]
}
|
We have previously shown that two SNPs in SGK1 (rs1057293 and rs1743966) are associated with blood pressure variation and blood pressure progression in the general population.
|
NA
|
{
"id": 6446,
"name": "SGK1",
"pos": [
42,
4
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
122,
14
]
}
|
The independence of the studied GST genotypes and smoking exposure was confirmed by studying 402 healthy, aged individuals.
|
NA
|
{
"id": 133482,
"name": "SLCO6A1",
"pos": [
32,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
50,
7
]
}
|
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