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DNA samples from 150 cases of endometrial cancer and healthy controls (n = 165) were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to determine the genotypic frequency of 13 different polymorphic loci on the CYP1A1 (m1, m2, m3, m4), CYP1A2 1F, CYP1B1 codon432, COMT codon158, CYP17, SULT1A1 (Arg213His, 14A/G, 85C/T in the 3' flanking region), SULT1E1-64G/A promoter region, and SHBG genes. | genomic_alterations | {
"id": 1586,
"name": "CYP17A1",
"pos": [
320,
5
]
} | {
"id": "C0007103",
"name": "Malignant neoplasm of endometrium",
"pos": [
30,
18
]
} |
In vitro, healthy donors with a FcγRIIIa 158-V allele demonstrated more effective ADCC against two colon cancer cell lines HT29 and SW480, mean cytotoxicity: FF 16.1%, VF/VV 24.3% (P = 0.015) and FF 11.7%, VF/VV 21.0% (P = 0.008), respectively. | genomic_alterations | {
"id": 2214,
"name": "FCGR3A",
"pos": [
32,
8
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
99,
12
]
} |
Scatchard analysis indicated the presence of a single class of high affinity receptors with a dissociation constant (Kd) of 24-32 pM, a value in good accord with half maximum dose for HGF activity and a receptor density of about 500-600 sites/cell. | NA | {
"id": 3082,
"name": "HGF",
"pos": [
184,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
94,
12
]
} |
This level of expression should be adequate for normal integrin function, but both the patient's Mac-1 on neutrophils and LFA-1 on T cells failed to bind ligands such as fibrinogen and intercellular adhesion molecule (ICAM)-1, respectively, or to display a beta2-integrin activation epitope after adhesion-inducing stimuli. | NA | {
"id": 3689,
"name": "ITGB2",
"pos": [
122,
5
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
170,
10
]
} |
The present study illustrates that the Chinese version of the ADAS-Cog total score is able to detect cognitive impairment of AD patients in Chinese communities but has a lower efficacy for MCI. | genomic_alterations | {
"id": 8540,
"name": "AGPS",
"pos": [
62,
4
]
} | {
"id": "C0338656",
"name": "Impaired cognition",
"pos": [
101,
20
]
} |
Our results indicate that SMN2-fl levels correlate with motor performance only in patients preserving higher levels of motor function, whereas motor performance was strongly influenced by disease duration and lean body mass. | NA | {
"id": 6607,
"name": "SMN2",
"pos": [
26,
4
]
} | {
"id": "C0424678",
"name": "Lean body mass",
"pos": [
209,
14
]
} |
Six months after terminating phlebotomy, the patient presented again suffering from impressive swelling of all MCP joints, showing strong synovitis in ultrasound, and from morning stiffness longer than 1 h. ESR, CRP, IgM rheumatoid factor, and anti-cyclic citrullinated peptide antibodies were markedly elevated. | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
207,
3
]
} | {
"id": "C0039103",
"name": "Synovitis",
"pos": [
138,
9
]
} |
Therefore, we investigated in a cohort of white subjects at increased risk for type 2 diabetes mellitus whether a genetic variation within the GPBAR1 gene contributes to prediabetic phenotypes, such as disproportionate fat distribution, insulin resistance, or beta-cell dysfunction. | NA | {
"id": 151306,
"name": "GPBAR1",
"pos": [
143,
11
]
} | {
"id": "C1969875",
"name": "Beta-cell dysfunction",
"pos": [
260,
21
]
} |
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of hypertension, hypercholesterolemia, and diabetes mellitus, as well as a stepwise forward selection procedure revealed that the 2445G-->A (Ala54Thr) polymorphism (rs1799883) of FABP2, the -108/3G-->4G polymorphism of IPF1 (S82168), the A-->G (Thr94Ala) polymorphism (rs2241883) of FABP1, the G-->A (Asp2213Asn) polymorphism (rs529038) of ROS1, the -11377C-->G polymorphism (rs266729) of ADIPOQ, the 162A-->C polymorphism (rs4769055) of ALOX5AP, the -786T-->C polymorphism (rs2070744) of NOS3, and the 3279C-->T polymorphism (rs7291467) of LGALS2 were associated (P<0.05) with the prevalence of atherothrombotic cerebral infarction. | NA | {
"id": 3957,
"name": "LGALS2",
"pos": [
671,
6
]
} | {
"id": "C0020443",
"name": "Hypercholesterolemia",
"pos": [
147,
20
]
} |
TP53 alterations in pancreatic acinar cell carcinoma: new insights into the molecular pathology of this rare cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
0,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
109,
6
]
} |
In an effort to gain further insights into the role of GSTP1 in tumorigenesis, we disrupted the GSTP1 gene in HCT116 human colorectal cancer cells using targeted homologous recombination. | NA | {
"id": 2950,
"name": "GSTP1",
"pos": [
96,
10
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
64,
13
]
} |
HSP70 and LRP/MVP in nephroblastomas indicates that the co-expression of different drug resistance genes may be under a common regulation of still unknown transcription factors. | biomarker | {
"id": 3308,
"name": "HSPA4",
"pos": [
0,
5
]
} | {
"id": "C0027708",
"name": "Nephroblastoma",
"pos": [
21,
15
]
} |
PI3K gamma-mutant mice have hematologic defects and are predisposed to colon cancer. | genomic_alterations | {
"id": 5294,
"name": "PIK3CG",
"pos": [
0,
10
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
71,
12
]
} |
Localized overexpression of FGF-2 and BDNF in hippocampus reduces mossy fiber sprouting and spontaneous seizures up to 4 weeks after pilocarpine-induced status epilepticus. | therapeutic | {
"id": 627,
"name": "BDNF",
"pos": [
38,
4
]
} | {
"id": "C0270824",
"name": "Visual seizure",
"pos": [
104,
8
]
} |
To determine the role of angiotensin converting enzyme (ACE) and angiotensin II type 1 receptor (AT1R) polymorphisms in the pathogenesis of nonartertic anterior ischemic optic neuropathy (NAION). | NA | {
"id": 1636,
"name": "ACE",
"pos": [
56,
3
]
} | {
"id": "C0751711",
"name": "Anterior Ischemic Optic Neuropathy",
"pos": [
152,
34
]
} |
Stimulation under hypoxic conditions induced higher expression of HIF-1alpha and VEGF mRNA than treatment with either IL-1beta or hypoxia alone. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
66,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
130,
7
]
} |
In this study, we performed a sequence analysis of the mitochondrial cytochrome oxidase I (COXI) gene in 31 infertile men suffering from asthenozoospermia in comparison to 33 normozoospermic infertile men and 100 fertile men from the Tunisian population. | genomic_alterations | {
"id": 4512,
"name": "COX1",
"pos": [
91,
4
]
} | {
"id": "C0403823",
"name": "Asthenozoospermia",
"pos": [
137,
17
]
} |
Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex. | genomic_alterations | {
"id": 7248,
"name": "TSC1",
"pos": [
22,
4
]
} | {
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
71,
26
]
} |
Interestingly, biogenesis of miR-215 and several miRNAs is accelerated post-transcriptionally by hypoxia-inducible factors (HIFs) through HIF-Drosha interaction. | NA | {
"id": 29102,
"name": "DROSHA",
"pos": [
142,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
97,
7
]
} |
De novo LMNA mutations cause a new form of congenital muscular dystrophy. | genomic_alterations | {
"id": 4000,
"name": "LMNA",
"pos": [
8,
4
]
} | {
"id": "C0699743",
"name": "Congenital muscular dystrophy (disorder)",
"pos": [
43,
29
]
} |
Our findings are the first to reveal that the association between maternal depressive symptoms and in utero neurodevelopment of specific brain regions is modified through complex genetic variation in neonatal FKBP5. | genomic_alterations | {
"id": 2289,
"name": "FKBP5",
"pos": [
209,
5
]
} | {
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
75,
19
]
} |
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. | NA | {
"id": 29102,
"name": "DROSHA",
"pos": [
17,
6
]
} | {
"id": "C0040822",
"name": "Tremor",
"pos": [
113,
6
]
} |
Accordingly, Crtc1 deficient mice develop spontaneous hepatic steatosis in young age. | biomarker | {
"id": 23373,
"name": "CRTC1",
"pos": [
13,
5
]
} | {
"id": "C2711227",
"name": "Steatohepatitis",
"pos": [
54,
17
]
} |
In this manuscript we review current strategies for targeting the PD-1 pathway, highlighting putative biomarkers and the rationale for investigation of these drugs to treat common pediatric tumors such as sarcoma, neuroblastoma, and high-grade glioma. | biomarker | {
"id": 5133,
"name": "PDCD1",
"pos": [
66,
4
]
} | {
"id": "C4551686",
"name": "Malignant neoplasm of soft tissue",
"pos": [
205,
7
]
} |
We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an inherited form of acute and chronic pancreatitis (HP1), providing strong evidence that trypsin plays a central role in premature zymogen activation and pancreatitis. | NA | {
"id": 23468,
"name": "CBX5",
"pos": [
158,
3
]
} | {
"id": "C0030305",
"name": "Pancreatitis",
"pos": [
260,
12
]
} |
We characterized high-grade serous ovarian carcinoma (HGSC) for the association of amplified and overexpressed genes with clinical outcome using gene expression data from 499 HGSC patients in the Ovarian Tumor Tissue Analysis cohort for 11 copy number amplified genes: ATP13A4, BMP8B, CACNA1C, CCNE1, DYRK1B, GAB2, PAK4, RAD21, TPX2, ZFP36, and URI. | NA | {
"id": 84239,
"name": "ATP13A4",
"pos": [
269,
7
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
35,
17
]
} |
The gene expression of the Th1 cytokines IL-12p35, IL-12p40 and IFN-γ and their related transcription factors STAT4, SOCS5 and T-bet, the Th2 cytokines IL-4 and IL-13 and transcription factors STAT6, SOCS3 and GATA-3 and the regulatory cytokines IL-10 and TGF-β and the transcription factor FOXP3 was evaluated in healthy control and atopic dogs. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
152,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
334,
6
]
} |
Moreover, treatment of endometriosis xenografts with inhibitors of p38 and JNK abrogated PGE2-amplified estradiol synthesis and xenograft growth. | biomarker | {
"id": 5594,
"name": "MAPK1",
"pos": [
67,
3
]
} | {
"id": "C0014175",
"name": "Endometriosis",
"pos": [
23,
13
]
} |
Baseline and stimulated PON1 activities were decreased (P <0.001) in chronic hepatitis and in liver cirrhosis. | biomarker | {
"id": 5444,
"name": "PON1",
"pos": [
24,
4
]
} | {
"id": "C0019189",
"name": "Hepatitis, Chronic",
"pos": [
72,
17
]
} |
Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. | therapeutic | {
"id": 43,
"name": "ACHE",
"pos": [
82,
20
]
} | {
"id": "C0422854",
"name": "Gustatory seizure",
"pos": [
20,
8
]
} |
MMP-2 and TIMP-2 were expressed in high rates in NSCLC but CD44v6 expression was about 50%. | biomarker | {
"id": 7077,
"name": "TIMP2",
"pos": [
10,
6
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
49,
5
]
} |
We detected an ~6.25 kb homozygous intragenic duplication in NDRG1, a gene known to be causative for recessive HMSNL/CMT4D, in three individuals from a Turkish family with CMT neuropathy. | biomarker | {
"id": 10397,
"name": "NDRG1",
"pos": [
61,
5
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
176,
10
]
} |
While loss of RASSF1A promoted the formation of oncogenic YAP1-TEAD complexes, the combined loss of both RASSF1A and RUNX2 further increased YAP1-TEAD levels, showing that loss of RASSF1A, together with RUNX2, is consistent with the multistep model of tumorigenesis. | NA | {
"id": 860,
"name": "RUNX2",
"pos": [
203,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
252,
13
]
} |
We analysed the expression levels of 84 key genes involved in the regulated degradation of cellular protein by the ubiquitin-proteasome system in peripheral cells from patients with frontotemporal dementia (FTD) due to C9ORF72 and GRN mutations, as compared with sporadic FTD and age-matched controls. | NA | {
"id": 2896,
"name": "GRN",
"pos": [
231,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
263,
8
]
} |
We detected aberrant expression of ALDH1A genes, particularly ALDH1A2, in a majority (72%) of primary paediatric T cell acute lymphoblastic leukaemia (T-ALL) specimens. | NA | {
"id": 8854,
"name": "ALDH1A2",
"pos": [
62,
7
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
120,
29
]
} |
The granuloma-derived T cells of WG patients produced only IFNgamma, while TCC, TCL, and CD4+ and CD8+ T cells from BAL and PB produced mainly IFNgamma. | NA | {
"id": 57381,
"name": "RHOJ",
"pos": [
80,
3
]
} | {
"id": "C0018188",
"name": "Granuloma",
"pos": [
4,
9
]
} |
We concluded that PTEN promoter hypermethylation is a common event in sporadic BC, correlating with other well-established prognostic factors of this malignancy. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
18,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
70,
8
]
} |
Using our established techniques for single-cell ratiometric real-time calcium image analysis, we defined the nature of the basic fibroblast growth factor (bFGF)-induced calcium signal in human diploid fibroblasts, and, in blinded studies, have analyzed the bFGF-induced signals from 18 independent fibroblast cell lines, including multiple lines from patients with known mutant alleles of FGFR3 and syndromes of Ach or TD. | genomic_alterations | {
"id": 2261,
"name": "FGFR3",
"pos": [
390,
5
]
} | {
"id": "C0001080",
"name": "Achondroplasia",
"pos": [
413,
3
]
} |
However, survivin seems to exert its role in ways different from those of PTEN or p27 in the development of endometrioid adenocarcinoma. | biomarker | {
"id": 100302736,
"name": "TMED7-TICAM2",
"pos": [
82,
3
]
} | {
"id": "C1569637",
"name": "Adenocarcinoma, Endometrioid",
"pos": [
108,
27
]
} |
Several cardiac phenotypes were age-dependently increased in LMNA mutation carriers, suggesting that ICD or CRT-D could suppress SCD after middle age; however, LVD leading to end-stage heart failure was the only independent predictor for total mortality. | genomic_alterations | {
"id": 811,
"name": "CALR",
"pos": [
108,
3
]
} | {
"id": "C1868938",
"name": "End stage cardiac failure",
"pos": [
175,
23
]
} |
The number of high multiplicity aberrant crypt foci per centimeter of colon was significantly elevated (P<.05) in compound Folbp1(+/-); RFC1(+/-) (3.5+/-0.4) mice as compared to Folbp1(+/-) (1.9+/-0.3) and wild-type control mice (1.1+/-0.1). | NA | {
"id": 5981,
"name": "RFC1",
"pos": [
136,
4
]
} | {
"id": "C1879526",
"name": "Aberrant Crypt Foci",
"pos": [
32,
19
]
} |
RBP-J-interacting and tubulin-associated protein induces apoptosis and cell cycle arrest in human hepatocellular carcinoma by activating the p53-Fbxw7 pathway. | NA | {
"id": 3516,
"name": "RBPJ",
"pos": [
0,
5
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
98,
24
]
} |
Activating mutations in epidermal growth factor receptor-tyrosine kinase (EGF-TK) are frequently associated with NSCLC, and afatinib is a first-line therapeutic drug, irreversibly targeting EGF-TK. | genomic_alterations | {
"id": 1950,
"name": "EGF",
"pos": [
74,
3
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
113,
5
]
} |
Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure. | NA | {
"id": 3476,
"name": "IGBP1",
"pos": [
87,
7
]
} | {
"id": "C0010038",
"name": "Corneal Opacity",
"pos": [
135,
17
]
} |
To investigate the effects on telomerase activity of transfection of human T-STAR gene full-length sense cDNA or partial antisense cDNA into human colon cancer cell line HCT-116. | NA | {
"id": 10656,
"name": "KHDRBS3",
"pos": [
75,
6
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
147,
12
]
} |
We examined the ACE genotype and the effects of a perindopril-based blood pressure-lowering regimen on macrovascular events, dementia, and cognitive decline among hypertensive and nonhypertensive patients with a history of cerebrovascular disease. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
16,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
68,
14
]
} |
GJB2 mutation was frequent in sporadic outpatients and its mutation frequency was significant higher in the prelingual group than in the postlingual group, whereas the mutation of mtDNA A1555G and SLC26A4 was very rare in Chinese sporadic outpatients with nonsyndromic sensorineural hearing loss (NSHL). | NA | {
"id": 2706,
"name": "GJB2",
"pos": [
0,
4
]
} | {
"id": "C1842137",
"name": "Nonsyndromic sensorineural hearing loss",
"pos": [
256,
39
]
} |
It is consistent with the general observations in lymphomas, but is highly in contrast to a previous report showing more than 50% of MALT lymphomas with the RER phenotype. | NA | {
"id": 3550,
"name": "IK",
"pos": [
157,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
50,
9
]
} |
The circadian rhythm in expression of the clock genes PER2 and PER3 in CD14+ monocytes was lost in patients with RA. | NA | {
"id": 929,
"name": "CD14",
"pos": [
71,
4
]
} | {
"id": "C0008810",
"name": "Circadian Rhythms",
"pos": [
4,
16
]
} |
Furthermore, nuclear expression of Snail was decreased and E-cadherin expression was restored in LIV-1 siRNA expressing pancreatic carcinoma cells. | NA | {
"id": 25800,
"name": "SLC39A6",
"pos": [
97,
5
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
120,
20
]
} |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. | therapeutic | {
"id": 847,
"name": "CAT",
"pos": [
7,
8
]
} | {
"id": "C2936848",
"name": "Acatalasemia Swiss type",
"pos": [
71,
12
]
} |
We have performed an extensive analysis of 9p21 and genes located in this region (cyclin-dependent kinase inhibitor 2A - CDKN2A/p16(INK4a), CDKN2A/p14(ARF), CDKN2B/p15(INK4b), MTAP, interferon alpha and beta cluster).LOH was detected in 16.4% of 177 NB. | biomarker | {
"id": 4507,
"name": "MTAP",
"pos": [
176,
4
]
} | {
"id": "C0700095",
"name": "Central neuroblastoma",
"pos": [
250,
2
]
} |
Effects of the vitamin E in catalase activities in hippocampus after status epilepticus induced by pilocarpine in Wistar rats. | therapeutic | {
"id": 847,
"name": "CAT",
"pos": [
28,
8
]
} | {
"id": "C0393734",
"name": "Complex Partial Status Epilepticus",
"pos": [
69,
18
]
} |
A combination of growth hormone-releasing hormone antagonist with luteinizing hormone-releasing hormone antagonist potentiated a reduction in prostate weight in an experimental benign prostatic hyperplasia model. | NA | {
"id": 2691,
"name": "GHRH",
"pos": [
17,
32
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
151,
6
]
} |
Rebound in viremia induced by therapy interruption showed a positive association between TRAIL and viral load or T-cell activation, but comparable levels of plasma IFN-alpha/beta were found in viremic ART-treated and control subjects. | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
89,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
99,
10
]
} |
Visfatin (pre-B cell colony-enhancing factor) has recently been identified as a new adipocytokine affecting insulin resistance by binding to the insulin receptor. | NA | {
"id": 10135,
"name": "NAMPT",
"pos": [
0,
8
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
108,
18
]
} |
Survival for good-risk patients receiving concurrent CRT plus gefitinib was disappointing even for tumors with activating EGFR mutations. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
122,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
99,
6
]
} |
To study the effects of suplatast tosilate (IPD) on the airway inflammation and expression of interleukin-5 in asthmatic rats. | NA | {
"id": 3567,
"name": "IL5",
"pos": [
94,
13
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
63,
12
]
} |
The development of pituitary adenoma in Hmga1 transgenic mice has been reported. | NA | {
"id": 3159,
"name": "HMGA1",
"pos": [
40,
5
]
} | {
"id": "C0032000",
"name": "Pituitary Adenoma",
"pos": [
19,
17
]
} |
Furthermore, within our pigtailed macaque model of HIV-associated CNS disease, where monocyte surface markers have previously been shown to reorganize during acute infection, TLR2 remains stably expressed on the surface of classical, intermediate, and non-classical monocytes. | biomarker | {
"id": 7097,
"name": "TLR2",
"pos": [
175,
4
]
} | {
"id": "C0007682",
"name": "CNS disorder",
"pos": [
66,
11
]
} |
FRAXE fragile site associated mental retardation remains unique among X-linked mental retardation phenotypes due to its very mild to borderline nature (50< IQ< 85). | genomic_alterations | {
"id": 84162,
"name": "KIAA1109",
"pos": [
6,
23
]
} | {
"id": "C1136249",
"name": "Mental Retardation, X-Linked",
"pos": [
70,
27
]
} |
Sickle hemoglobin is a mutant hemoglobin in which valine has been substituted for the glutamic acid normally at the sixth amino acid of the beta-globin chain. | NA | {
"id": 3043,
"name": "HBB",
"pos": [
140,
11
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
30,
10
]
} |
Polymorphism in the interleukin-10 gene is associated with overactive bladder phenotype associated with HTLV-1 infection. | genomic_alterations | {
"id": 3586,
"name": "IL10",
"pos": [
20,
14
]
} | {
"id": "C0020097",
"name": "HTLV-I Infections",
"pos": [
104,
16
]
} |
As compared with children whose fathers did not report a myocardial infarction, those whose fathers reported having had an infarction (n = 139) had a lower mean level of apolipoprotein A-I (137 vs. 141 mg per deciliter; P = 0.04) and a lower ratio of low-density lipoprotein cholesterol to apolipoprotein B (1.08 vs. 1.11; P = 0.007), along with a higher ratio of apolipoprotein B to apolipoprotein A-I (0.64 vs. 0.61; P = 0.04). | NA | {
"id": 338,
"name": "APOB",
"pos": [
364,
16
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
123,
10
]
} |
The present study is the first to support a role for AMF mediating EMT in endometrial cancer through MAPK signaling. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
67,
3
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
74,
18
]
} |
Mutation screening identified the same 2-bp deletion of U50 as in prostate cancer in both cell lines and primary tumors from breast cancer, and the deletion was both somatic and in germline. | NA | {
"id": 26799,
"name": "SNORD50A",
"pos": [
56,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
125,
13
]
} |
Patients with IGH-BCL3 translocation were more likely to have high and very-high CLL-International Prognostic Index, compared to patients with IGH-BCL2 translocation and the non-IGH group. | genomic_alterations | {
"id": 602,
"name": "BCL3",
"pos": [
18,
4
]
} | {
"id": "C0023434",
"name": "Chronic Lymphocytic Leukemia",
"pos": [
81,
3
]
} |
We offer evidences of increased β3-integrin dependent NSCLC adhesion to lymphatic endothelium after TGF-β exposure. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
100,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
60,
8
]
} |
Anti-neu antibody and PI3K inhibitor synergistically promoted anti-tumor immunity by increasing functional T cell production. | biomarker | {
"id": 5291,
"name": "PIK3CB",
"pos": [
22,
4
]
} | {
"id": "C1519680",
"name": "Tumor Immunity",
"pos": [
67,
14
]
} |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation. | genomic_alterations | {
"id": 4352,
"name": "MPL",
"pos": [
147,
3
]
} | {
"id": "C2347761",
"name": "Childhood Myelodysplastic Syndrome",
"pos": [
66,
24
]
} |
We gained clinical insight into HIF-1α and TAZ as candidate biomarkers for bone avidity, relevant for early-therapeutic intervention against bone metastasis. | biomarker | {
"id": 3091,
"name": "HIF1A",
"pos": [
32,
6
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
141,
15
]
} |
Recent evidence suggests that T cells may regulate bone resorption through the cross-talk between the critical osteoclastogenetic factor, receptor activator of nuclear factor-kappaB ligand (RANKL), and interferon gamma (IFN-gamma) that strongly suppresses osteoclastogenesis. | NA | {
"id": 3458,
"name": "IFNG",
"pos": [
202,
16
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
51,
15
]
} |
By using a refined microarray screening approach we present three genes with cancer-specific hypermethylation in colorectal tumors, ADAMTS1, CRABP1, and NR3C1. | NA | {
"id": 9510,
"name": "ADAMTS1",
"pos": [
132,
7
]
} | {
"id": "C0009404",
"name": "Colorectal Neoplasms",
"pos": [
113,
17
]
} |
GOALS: To evaluate the HER-2/neu protein level by immunohistochemistry (IHC) and its gene amplification by fluorescence in situ hybridization (FISH) in gastric cancer samples, and the relevance to the prognosis of gastric cancer patients. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
143,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
214,
14
]
} |
The isoform A of the Ras-association domain family member 1 (RASSF1A) gene is one of the most frequently silenced transcripts in human tumors, however, few studies have simultaneously investigated epigenetic abnormalities associated with the 3p21.3 tumor suppressor gene cluster flanking RASSF1 (i.e., SEMA3B, HYAL3, HYAL2, HYAL1, TUSC2, RASSF1, ZMYND10, NPRL2, TMEM115, and CACNA2D2). | NA | {
"id": 9254,
"name": "CACNA2D2",
"pos": [
375,
8
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
208,
13
]
} |
Six significantly altered candidate genes, PI3, protein kinase C iota, phosphoserine phosphatase, IQ motif-containing GTPase activating protein 1, interleukin 13 receptor α 1, and signal transducing adaptor molecule SH3 domain and ITAM motif 2, were identified from comparisons across the four asthma- and four smoking-related data sets included in this study. | NA | {
"id": 5723,
"name": "PSPH",
"pos": [
71,
25
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
294,
6
]
} |
Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG. | genomic_alterations | {
"id": 3784,
"name": "KCNQ1",
"pos": [
129,
4
]
} | {
"id": "C1141890",
"name": "Congenital long QT syndrome",
"pos": [
0,
27
]
} |
In addition, AURKA correlated with the proliferation metagene (R=0.880; P<0.001), showed a positive association with grade (P<0.001), tumor size (P<0.001) and HER2 (P<0.001), and was inversely associated with ER status (P<0.001). | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
168,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
140,
5
]
} |
The multifunctional membrane bound serine aminopeptidase dipeptidyl peptidase (DPP)-IV has been linked to the development and progression of several malignancies, possibly both through the enzymatic and nonenzymatic mechanisms. | biomarker | {
"id": 10404,
"name": "CPQ",
"pos": [
42,
14
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
149,
12
]
} |
In 40 archival samples of SCC and in 21 samples of Barret's metaplasia, expression of the three mucins and two TFF peptides (TFF1 and TFF2) was assessed by specific antibodies. | NA | {
"id": 7031,
"name": "TFF1",
"pos": [
125,
4
]
} | {
"id": "C0025568",
"name": "Metaplasia",
"pos": [
60,
10
]
} |
Role of central nicotinic and beta-adrenergic receptors in the onset and further development of tail-tremor induced by repeated nicotine administration to rats. | therapeutic | {
"id": 154,
"name": "ADRB2",
"pos": [
30,
26
]
} | {
"id": "C0234375",
"name": "Massive Tremor",
"pos": [
101,
6
]
} |
Alveolar-differentiated ADC were more common in young (P=.065), female (P=.083) patients, frequently harboring EGFR-mutated (P=.003) tumors with acinar pattern (P<.001). | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
111,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
24,
3
]
} |
The alteration of PI3K can significantly affect the overall patient survival in ESCC but not in esophageal adenocarcinoma (EAC). | genomic_alterations | {
"id": 5291,
"name": "PIK3CB",
"pos": [
18,
4
]
} | {
"id": "C1275122",
"name": "Familial multiple trichoepitheliomata",
"pos": [
123,
3
]
} |
Our data suggests that age and obesity may contribute to the sex-specific incidence of EGFR mutation in lung adenocarcinoma in different manners. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
87,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
31,
7
]
} |
Risk factors for MCI at the time of the MRI were identified using logistic regression, controlling for age, race, educational level, baseline Modified Mini-Mental State Examination and Digit Symbol Test scores, measurements of depression, MRI findings (atrophy, ventricular volume, white matter lesions, and infarcts), the presence of the apolipoprotein E (APOE) epsilon4 allele, hypertension, diabetes mellitus, and heart disease. | NA | {
"id": 345643,
"name": "MCIDAS",
"pos": [
17,
3
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
253,
7
]
} |
In multivariable analysis, ASXL1 mutations, absolute monocyte count >10 × 10(9)/l, hemoglobin <10 g/dl, platelets <100 × 10(9)/l and circulating immature myeloid cells were independently predictive of shortened survival: hazard ratio (95% confidence interval (CI)) values were 1.5 (1.1-2.0), 2.2 (1.6-3.1), 2.0 (1.6-2.6), 1.5 (1.2-1.9) and 2.0 (1.4-2.7), respectively. | NA | {
"id": 171023,
"name": "ASXL1",
"pos": [
27,
5
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
83,
10
]
} |
We evaluated associations between air pollutants and markers of insulin resistance (IR), an underlying mechanism of type 2 DM, and effect modification by GSTM1, GSTT1, and GSTP1 genotypes among elderly participants in the Korean Elderly Environmental Panel (KEEP) study. | NA | {
"id": 2950,
"name": "GSTP1",
"pos": [
172,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
64,
18
]
} |
These data confirm previous studies on the specific association of mRNA species and type of congenital heart defect and confirm that ventricular septal defects are associated with abnormal mRNA for the tenascin-X gene. | genomic_alterations | {
"id": 7148,
"name": "TNXB",
"pos": [
202,
10
]
} | {
"id": "C0018818",
"name": "Ventricular Septal Defects",
"pos": [
133,
26
]
} |
CDKN1B, encoding the cyclin-dependent kinase inhibitor 1B (p27), is located in the minimally deleted region of 12p abnormalities in myeloid malignancies and its low expression is a favorable prognostic marker in acute myeloid leukemia. | NA | {
"id": 1027,
"name": "CDKN1B",
"pos": [
21,
36
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
115,
13
]
} |
Methylation status of GATA-4 and GATA-5 CpG islands in human gastric mucosa samples, including normal gastric biopsies from 45 outpatients, gastric dysplasia [low-grade gastric intraepithelial neoplasia (GIN), n = 30; indefinite, n = 77], and 80 paired sporadic gastric carcinomas (SGC) as well as the adjacent non-neoplastic gastric tissues was analyzed by methylation specific polymerase chain reaction (MSP) and confirmed by denatured high performance liquid chromatography (DHPLC). | NA | {
"id": 55278,
"name": "QRSL1",
"pos": [
33,
4
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
311,
14
]
} |
Study of the downstream effectors of CREB have identified several important CREB-related genes, such as neuropeptide Y, brain-derived neurotrophic factor, activity-regulated cytoskeleton-associated protein, and corticotrophin-releasing factor, that may play a crucial role in the behavioral effects of ethanol and molecular changes in the specific neurocircuitry that underlie both alcohol addiction and a genetic predisposition to alcoholism. | genomic_alterations | {
"id": 627,
"name": "BDNF",
"pos": [
120,
33
]
} | {
"id": "C0001973",
"name": "Alcoholic Intoxication, Chronic",
"pos": [
432,
10
]
} |
The renal tissue from patients with MGN, MCD, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, hypertensive nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
370,
4
]
} | {
"id": "C0017668",
"name": "Focal glomerulosclerosis",
"pos": [
46,
34
]
} |
Pyruvate carboxylase is critical for non-small-cell lung cancer proliferation. | NA | {
"id": 5091,
"name": "PC",
"pos": [
0,
20
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
52,
11
]
} |
In exercised overweight/obese individuals, expression of genes for three anti-inflammatory macrophage markers, MGL (p = 0.0031, ρ = 0.71), CD163 (p = 0.0268, ρ = 0.57) and mannose receptor (p = 0.0125, ρ = 0.63), correlated with high glucose-disposal rate. | NA | {
"id": 10462,
"name": "CLEC10A",
"pos": [
111,
3
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
13,
10
]
} |
We hypothesized that somatic SQSTM1 mutations might occur in the affected tissues of sporadic PDB and pagetic osteosarcoma. | NA | {
"id": 8878,
"name": "SQSTM1",
"pos": [
29,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
85,
8
]
} |
Compared with Wistar-Kyoto (WKY) rats, there were marked increases in systolic blood pressure and profilin-1 expression and reduced ACE2 and peroxisome proliferator activated receptor-γ (PPARγ) levels in aorta of SHR, associated with elevated extracellular-signal regulated kinase 1/2 (ERK1/2) and c-Jun N-terminal kinase (JNK) phosphorylation signaling and aortic hypertrophy characterized with increased media thickness, which were strikingly reversed by telmisartan. | NA | {
"id": 5468,
"name": "PPARG",
"pos": [
187,
5
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
70,
23
]
} |
In contrast, in patients with diverticulitis, an enhanced number of B7-1 and B7-2 and CTLA-4 was observed. | NA | {
"id": 1493,
"name": "CTLA4",
"pos": [
86,
6
]
} | {
"id": "C0012813",
"name": "Diverticulitis",
"pos": [
30,
14
]
} |
The TCN2 variant of rs9606756 [rs9606756="6948;7157">rs9606756</span>" genes_norm="6948">Ile23Val</span>] acts as risk loci for obesity-related traits and mediates by interacting with Apo-A1. | genomic_alterations | {
"id": 6948,
"name": "TCN2",
"pos": [
4,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
128,
7
]
} |
The DCTD rs9990999 AG/GG and SLC29A1 rs693955 CC genotypes were also significantly associated with shorter duration of neutropenia. | genomic_alterations | {
"id": 1635,
"name": "DCTD",
"pos": [
4,
4
]
} | {
"id": "C0023530",
"name": "Leukopenia",
"pos": [
119,
11
]
} |
To test the hypothesis that SORL1 is associated with brain magnetic resonance imaging (MRI) measurements of atrophy and/or vascular disease. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
87,
3
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
108,
7
]
} |
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