text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
We have previously reported evidence that variation at GABA(A) receptor genes is associated with susceptibility to bipolar disorder with schizophrenia-like psychotic features (Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type) with gene-wide significance at GABRB1, GABRA4, GABRB3, GABRA5, and GABRR3. | NA | {
"id": 2557,
"name": "GABRA4",
"pos": [
290,
6
]
} | {
"id": "C0005586",
"name": "Bipolar Disorder",
"pos": [
115,
16
]
} |
In normal colon mucosa of polyposis patients the highest mRNA copy numbers were observed for TLR3, and the lowest for TLR7. | NA | {
"id": 51284,
"name": "TLR7",
"pos": [
118,
4
]
} | {
"id": "C0334108",
"name": "Multiple polyps",
"pos": [
26,
9
]
} |
Structural and functional abnormalities in caveolar processing and the trans-Golgi secretory pathway of cells lacking functional ABC1 indicate that lipid export processes involving vesicular budding between the Golgi and the plasma membrane are severely disturbed. | NA | {
"id": 19,
"name": "ABCA1",
"pos": [
129,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
26,
13
]
} |
The lack of Lcn2 also blunted the NAS-induced increase in systolic blood pressure. | NA | {
"id": 3934,
"name": "LCN2",
"pos": [
12,
4
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
58,
23
]
} |
The degree of correlation between a SIBLING and its partner MMP was found to be significant within a given cancer type (e.g., BSP and MMP-2 in colon cancer, OPN and MMP-3 in ovarian cancer; DMP1 and MMP-9 in lung cancer). | biomarker | {
"id": 4314,
"name": "MMP3",
"pos": [
165,
5
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
174,
14
]
} |
We intended to investigate the expression of ghrelin and its receptor GHSR-1a in different myocardial areas of patients with chronic heart failure (CHF) as compared to heart-healthy subjects to better define the role of the ghrelin signaling system in the networks regulating cardiac function and its potential as a target for diagnosis and/or treatment of CHF. | NA | {
"id": 2693,
"name": "GHSR",
"pos": [
70,
4
]
} | {
"id": "C0264716",
"name": "Chronic heart failure",
"pos": [
125,
21
]
} |
Microarray analysis was performed to find E2F1-related genes associated with tumor progression and aggressiveness in the gene expression data from 165 primary patients with bladder cancer. | NA | {
"id": 1869,
"name": "E2F1",
"pos": [
42,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
99,
14
]
} |
The relative expression of genes/gene categories that were modulated by up-regulated CXCL12/CXCR4 signaling was determined by a comparative transcriptome analysis of wild-type and CXCR4-knockdown cells in normoxia and hypoxia using the rat GH-producing and prolactin-producing pituitary adenoma cell line, GH3. | NA | {
"id": 6387,
"name": "CXCL12",
"pos": [
85,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
218,
7
]
} |
Combined genetic blockade of cyclophilin D and acid sphingomyelinase renders the high TNF state hyperresistant by preventing macrophage necrosis while preserving increased microbicidal activity. | NA | {
"id": 6609,
"name": "SMPD1",
"pos": [
47,
21
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
136,
8
]
} |
The results showed that the frequency of TLR2/rs7656411 GG genotype and G allele were significantly higher in PVIAU patients as compared with healthy controls (P = 1.10 × 10<sup>-4</sup>, corrected P value [Pc] = 4.93 × 10<sup>-3</sup>, odds ratio [OR] = 1.848; P = 3.57 × 10<sup>-4</sup>, Pc = 1.07 × 10<sup>-2</sup>, OR = 1.478, respectively). | genomic_alterations | {
"id": 7097,
"name": "TLR2",
"pos": [
41,
4
]
} | {
"id": "C0042165",
"name": "Anterior uveitis",
"pos": [
110,
5
]
} |
The patterns of chromosomal abnormalities detected by FISH in PSC-associated and sporadic CCAs were similar. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
54,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
81,
8
]
} |
In 57 specimens from 49 patients with MPNST (35 sporadic, 14 neurofibromatosis type 1-related), TA was determined using the telomeric repeat amplification protocol, and ALT was detected by assaying ALT-associated promyelocytic leukemia bodies (APB) and terminal restriction fragment (TRF) length distribution. | NA | {
"id": 6051,
"name": "RNPEP",
"pos": [
244,
3
]
} | {
"id": "C0027831",
"name": "Neurofibromatosis 1",
"pos": [
61,
24
]
} |
The tumor suppressive role of PGDH applies equally to both squamous cell carcinoma and adenocarcinoma, which enriches our understanding of the pathogenesis of esophageal cancer and may provide an important therapeutic target. | biomarker | {
"id": 26227,
"name": "PHGDH",
"pos": [
30,
4
]
} | {
"id": "C0152018",
"name": "Esophageal carcinoma",
"pos": [
159,
17
]
} |
In the evaluation of a patient with intraocular inflammation in whom PIOL is suspected, CDR3 polymorphism analysis is recommended to confirm clonality. | genomic_alterations | {
"id": 8163,
"name": "CDR3",
"pos": [
88,
4
]
} | {
"id": "C0042164",
"name": "Uveitis",
"pos": [
36,
24
]
} |
To determine the frequency of expression of the tumor-associated antigens (TAAs) melanoma-associated antigen A3 (MAGE-A3) and preferentially expressed antigen of melanoma (PRAME) and the rate of EGFR mutations in a Taiwanese non-small cell lung cancer (NSCLC) population including only adenocarcinomas and squamous cell carcinomas. | genomic_alterations | {
"id": 57730,
"name": "ANKRD36B",
"pos": [
81,
27
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
286,
15
]
} |
Seizures and extrapyramidal symptoms in a patient with Tourette's syndrome, Asperger's syndrome, and multiple sclerosis treated with interferon beta-1a and clomipramine. | therapeutic | {
"id": 3456,
"name": "IFNB1",
"pos": [
133,
15
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
101,
18
]
} |
To explore the possibility that COX-2 is a therapeutic target, we conducted a phase II study of celecoxib, a selective COX-2 inhibitor, and trastuzumab in patients with HER-2/neu-overexpressing metastatic breast cancer that had progressed while receiving trastuzumab. | biomarker | {
"id": 5743,
"name": "PTGS2",
"pos": [
32,
5
]
} | {
"id": "C0278488",
"name": "Carcinoma breast stage IV",
"pos": [
194,
24
]
} |
CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults. | NA | {
"id": 5696,
"name": "PSMB8",
"pos": [
42,
5
]
} | {
"id": "C0026846",
"name": "Muscular Atrophy",
"pos": [
119,
14
]
} |
LPL PvuII and HindIII genotype, LPL mass, triglyceride, high-density lipoprotein cholesterol, blood pressure (BP), waist circumference (WC), insulin, and Homeostasis Model of Assessment - Insulin Resistance were determined using a cross-sectional design in 269 controls and 280 MetSyn patients. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
32,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
94,
14
]
} |
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was investigated in terms of CVD risk using multivariable modelling with a well-characterised functional genetic polymorphism of THBS4 (A387P, rs1866389) along with previously demonstrated risk-related functional genetic polymorphisms of CYBA (C242T, rs4673) and CETP (TaqIB, rs708272), and a set of blood markers. | NA | {
"id": 1071,
"name": "CETP",
"pos": [
364,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
82,
12
]
} |
beta(2)-Integrin-dependent adhesion caused by IL-5 to the plated intracellular adhesion molecule-1 surrogate, bovine serum albumin, was inhibited by TAT-Deltap85 in a concentration-dependent manner. | NA | {
"id": 6898,
"name": "TAT",
"pos": [
149,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
27,
8
]
} |
Genetic ablation of Insl3 or its G protein-coupled receptor (GPCR) Lgr8 causes cryptorchidism in mice. | biomarker | {
"id": 8322,
"name": "FZD4",
"pos": [
61,
4
]
} | {
"id": "C0010417",
"name": "Cryptorchidism",
"pos": [
79,
14
]
} |
To characterize the molecular features of undifferentiated-type gastric carcinomas that developed as undifferentiated-type, we examined for p53, APC, and epithelial (E)-cadherin gene mutations, microsatellite alterations including loss of heterozygosity (LOH) and microsatellite instability (MSI), and hypermethylation of the E-cadherin gene promoter in 26 early undifferentiated gastric carcinomas, consisting of 14 signet-ring cell carcinomas and 12 poorly differentiated adenocarcinomas. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
140,
3
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
264,
26
]
} |
The HLA-B*5703 allele confers susceptibility to the development of spondylarthropathies in Zambian human immunodeficiency virus-infected patients with slow progression to acquired immunodeficiency syndrome. | genomic_alterations | {
"id": 3106,
"name": "HLA-B",
"pos": [
4,
5
]
} | {
"id": "C0001175",
"name": "Acquired Immunodeficiency Syndrome",
"pos": [
171,
34
]
} |
Previously, we demonstrated that TNF induced proliferative responses in non-neoplastic adult human astrocytes. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
33,
3
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
72,
14
]
} |
None of the haplotypes IL1B -511(G>A) and IL1RN (VNTR) were found associated with the HOA. | genomic_alterations | {
"id": 3557,
"name": "IL1RN",
"pos": [
45,
5
]
} | {
"id": "C0263746",
"name": "Osteoarthritis of the hand",
"pos": [
89,
3
]
} |
Combinations of interleukin (IL)-1beta, IL-6, and IL-23 with transforming growth factor beta were used to differentiate myelin-specific T cell receptor transgenic T cells into Th17 cells, none of which could induce EAE, whereas Th1 cells consistently transferred disease. | biomarker | {
"id": 51561,
"name": "IL23A",
"pos": [
50,
5
]
} | {
"id": "C0014070",
"name": "Encephalomyelitis",
"pos": [
215,
3
]
} |
Knockdown of plakoglobin in these low motility non-invasive breast cancer cells rearranged the actin filaments and increased the motility of these cells. | NA | {
"id": 3728,
"name": "JUP",
"pos": [
13,
11
]
} | {
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
51,
22
]
} |
In addition to amyloid-dependent endpoints such as soluble Aβ production and plaque deposition quantified with 6E10 staining, the effect of CB2 receptor deletion on total soluble mouse tau production was assayed by using a recently developed high-sensitivity assay. | NA | {
"id": 1269,
"name": "CNR2",
"pos": [
140,
12
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
77,
6
]
} |
In contrast to PENK, no association was detected between PDYN genotype (68-bp repeat element containing one to four copies of AP-1 binding sites in the promoter region) and heroin abuse, although there was a clear functional association with striatal PDYN mRNA expression: an increased number of inducible repeats (three and four) correlated with higher PDYN levels than adult or fetal subjects with noninducible (one and two) alleles. | NA | {
"id": 2353,
"name": "FOS",
"pos": [
126,
4
]
} | {
"id": "C0600241",
"name": "heroin abuse",
"pos": [
173,
12
]
} |
This is unlikely to represent simple downregulation induced by inflammation since the key proinflammatory cytokine strongly upregulated DP4 expression in Caco-2 cells. | NA | {
"id": 51270,
"name": "TFDP3",
"pos": [
136,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
63,
12
]
} |
In contrast, BRAF mutation was present in 43% of HPs (P = 0.01 versus sporadic HPs), 75% of serrated adenomas, 33% of admixed hyperplastic-adenomatous polyps, 30% of tubular adenomas, and 33% of carcinomas from patients with multiple/large HPs and/or hyperplastic polyposis. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
13,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
195,
10
]
} |
The frequencies of IL12B 1188 C allele (p = 0.03, OR = 1.7) and CC genotype (p = 0.007, OR = 3.7) were both higher in TA patients than in control subjects. | genomic_alterations | {
"id": 3593,
"name": "IL12B",
"pos": [
19,
5
]
} | {
"id": "C0039263",
"name": "Takayasu Arteritis",
"pos": [
118,
2
]
} |
Recently, cell-permeable agonists also were shown to rescue ER-retained V2R mutants, leading to increased cAMP levels and translocation of aquaporin-2 to the apical membrane. | NA | {
"id": 554,
"name": "AVPR2",
"pos": [
72,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
122,
13
]
} |
Our data demonstrate that downregulation of AT(1)-receptors during sepsis is due to multiple but not single cytokines and define a relevant role for NF-kappaB in the pathogenesis of septic shock. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
149,
9
]
} | {
"id": "C0036983",
"name": "Septic Shock",
"pos": [
182,
12
]
} |
Pseudohypoxia requires the oxygen-independent stabilization of the alpha subunit of the hypoxia-inducible transcription factor (HIF-1alpha). | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
128,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
88,
7
]
} |
Linear regression analysis confirmed an independent association of liver fibrosis, steatosis, inflammation, and hepatocyte ballooning with hepatic chemerin mRNA expression (P<0.05 respectively). | NA | {
"id": 5919,
"name": "RARRES2",
"pos": [
147,
8
]
} | {
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
67,
14
]
} |
We have evaluated the Xpert MTB/RIF assay for the diagnosis of Mycobacterium tuberculosis bacteremia and investigated its impact on clinical outcomes. | NA | {
"id": 4498,
"name": "MT1JP",
"pos": [
28,
3
]
} | {
"id": "C0004610",
"name": "Bacteremia",
"pos": [
90,
10
]
} |
Clustered genomic alterations in chromosome 7p dictate outcomes and targeted treatment responses of lung adenocarcinoma with EGFR-activating mutations. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
125,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
97,
22
]
} |
HLA-G 3'-untranslated region polymorphisms are associated with HTLV-1 infection, proviral load and HTLV-associated myelopathy/tropical spastic paraparesis development. | genomic_alterations | {
"id": 3135,
"name": "HLA-G",
"pos": [
0,
5
]
} | {
"id": "C0030481",
"name": "Tropical Spastic Paraparesis",
"pos": [
126,
28
]
} |
Double-target fluorescence in situ hybridization (FISH) was applied to 42 cases of prostate cancer and seven cases of histologically proven benign prostate hyperplasia for the detection of structural aberrations of chromosome 8. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
50,
4
]
} | {
"id": "C1704272",
"name": "Benign Prostatic Hyperplasia",
"pos": [
140,
27
]
} |
A significant association of CxCa with various polymorphisms was observed: rs1800797 in the IL-6 gene (odds ratio [OR] = 0.88, 95% confidence intervals [CI]: 0.79-0.99); rs1041981 in the LTA gene (OR = 0.87, 95% CI: 0.78-0.98), and rs9344 in the CCND1 gene (OR = 1.14, 95% CI: 1.02-1.27), for those individuals carrying the rare allele. | genomic_alterations | {
"id": 4049,
"name": "LTA",
"pos": [
187,
3
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
29,
4
]
} |
This receptor-binding defective apolipoprotein B variant is the cause of familial defective apo B-100 (FDB), an autosomal dominantly inherited disease, which leads to increased plasma cholesterol levels and premature atherosclerosis.Neither patient expressed FDB. | genomic_alterations | {
"id": 338,
"name": "APOB",
"pos": [
32,
16
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
217,
15
]
} |
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). | genomic_alterations | {
"id": 1761,
"name": "DMRT1",
"pos": [
95,
4
]
} | {
"id": "C2673913",
"name": "Anemia, Hypochromic Microcytic, With Iron Overload",
"pos": [
0,
43
]
} |
HER3 tends to be intensively expressed during the progression of lung adenocarcinoma without EGFR mutation from carcinoma in situ to invasive carcinoma. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
93,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
62,
22
]
} |
EGFR mutations were detected in 35% of tumors. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
0,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
39,
6
]
} |
In most of these tumors, the t(2;5)(p23;q35) translocation causes fusion of the ALK gene to the 5' region of the nucleophosmin (NPM) gene, but other different ALK partners have been identified, including nonmuscle tropomyosin (TPM3), TRK-fused gene (TFG), 5' aminoimidazole-4-carboxamide ribonucleotide formyltranferase/IMP cyclohydrolase (ATIC), clathrin heavy chain gene (CLTC), and moesin (MSN). | NA | {
"id": 238,
"name": "ALK",
"pos": [
159,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
45,
13
]
} |
We performed immunohistochemistry, Western blotting, cell transfection, subcellular fractionation, and RNA interfering to analyze the expression and localization of BNIP3 and EndoG in degenerating neurons in models of stroke and hypoxia. | NA | {
"id": 2021,
"name": "ENDOG",
"pos": [
175,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
229,
7
]
} |
We introduce a novel method for measuring heterologous polycystin-2 channels in cilia, which will have utility in characterizing <i>PKD2</i> variants that cause ADPKD. | genomic_alterations | {
"id": 5311,
"name": "PKD2",
"pos": [
55,
12
]
} | {
"id": "C0085413",
"name": "Polycystic Kidney, Autosomal Dominant",
"pos": [
173,
5
]
} |
Endogenous 14-3-3-beta expression in the human glioma cell lines was proportional to their migratory and invasive abilities. | NA | {
"id": 7529,
"name": "YWHAB",
"pos": [
11,
11
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
48,
6
]
} |
Addition of IL-6 (but not IL-1 beta, IL-4, IL-7, or IL-10) inhibited PCD of 8226 targets induced by serum starvation or dexamethasone in a concentration-dependent fashion. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
37,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
106,
10
]
} |
Expression of the hypocretin/orexin receptor HCRTR2, which has been implicated in narcolepsy, correlated with sleep disturbance. | biomarker | {
"id": 3062,
"name": "HCRTR2",
"pos": [
45,
6
]
} | {
"id": "C0700201",
"name": "Dyssomnias",
"pos": [
110,
17
]
} |
These results demonstrate that epidermal barrier disruption, in addition to danger signals, induces regulatory events that prevent exaggerated skin inflammation and that IL-33 appears to be critically involved in this process. | biomarker | {
"id": 90865,
"name": "IL33",
"pos": [
170,
5
]
} | {
"id": "C0011603",
"name": "Dermatitis",
"pos": [
143,
17
]
} |
These include trials of adenosine deaminase gene transfer in children with severe combined immunodeficiency syndrome, a gene-marking study of Epstein-Barr virus-specific cytotoxic T cells, and trials of gene-modified T cells expressing suicide or viral resistance genes in patients infected with HIV. | genomic_alterations | {
"id": 100,
"name": "ADA",
"pos": [
24,
19
]
} | {
"id": "C0085110",
"name": "Severe Combined Immunodeficiency",
"pos": [
75,
41
]
} |
We conclude that the CIAS1 7unit repeat polymorphism increases the likelihood of mycoplasma infection-associated female infertility. | NA | {
"id": 114548,
"name": "NLRP3",
"pos": [
21,
5
]
} | {
"id": "C0021361",
"name": "Female infertility",
"pos": [
113,
18
]
} |
Peripheral blood (PB) and/or BM mononuclear cell samples of pediatric patients with (v)SAA (n=38), refractory cytopenia (MDS-RC) (n=28) and 18 controls were analysed via TCR Vbeta heteroduplex PCR analysis of extracted RNA. | biomarker | {
"id": 6288,
"name": "SAA1",
"pos": [
87,
3
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
121,
3
]
} |
Individuals with CDAII show progressive splenomegaly, gallstones and iron overload potentially with liver cirrhosis or cardiac failure. | NA | {
"id": 10483,
"name": "SEC23B",
"pos": [
17,
5
]
} | {
"id": "C0023890",
"name": "Liver Cirrhosis",
"pos": [
100,
15
]
} |
The development of mental state attributions in women with X-monosomy, and the role of monoamine oxidase B in the sociocognitive phenotype. | NA | {
"id": 4129,
"name": "MAOB",
"pos": [
87,
19
]
} | {
"id": "C0026499",
"name": "Monosomy",
"pos": [
61,
8
]
} |
Also, in three further sporadic patients, clinically overlapping to these two families, de novo mutations within EFTUD2 were identified by Sanger sequencing. | NA | {
"id": 9343,
"name": "EFTUD2",
"pos": [
113,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
23,
8
]
} |
In a 50 year-old Caucasian male, cerebral X-ALD was diagnosed upon progressive gait disturbance, intellectual decline, elevated very-long chain fatty acids in the serum or leucocytes, cerebral MRI, showing extensive, symmetric, homogenous demyelination in the parieto-occipital areas, the splenium corporis callosum, the thalamus, the crura cerebri, the brain stem, and the pedunculi cerebelli, and the deletion c.1415-1416delAG in the ABCD1-gene. | NA | {
"id": 215,
"name": "ABCD1",
"pos": [
436,
5
]
} | {
"id": "C4551915",
"name": "Gait Disturbance, CTCAE",
"pos": [
79,
16
]
} |
To study the polymorphisms of toll-like receptor 4 (TLR4) gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp and susceptibility to inflammatory bowel disease (IBD) in the Zhuang population from Guangxi, China. | NA | {
"id": 7097,
"name": "TLR2",
"pos": [
88,
9
]
} | {
"id": "C0021831",
"name": "Intestinal Diseases",
"pos": [
154,
13
]
} |
Effects of spironolactone and eprosartan on cardiac remodeling and angiotensin-converting enzyme isoforms in rats with experimental heart failure. | therapeutic | {
"id": 1636,
"name": "ACE",
"pos": [
67,
29
]
} | {
"id": "C0018801",
"name": "Heart failure",
"pos": [
132,
13
]
} |
Furthermore, MED23 knockdown suppressed tumorigenesis and regulated p16/Rb signaling in vivo. | NA | {
"id": 9439,
"name": "MED23",
"pos": [
13,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
40,
13
]
} |
However, the consequences of blockade of KCa3.1 in preventing and treating established diabetic nephropathy in humans warrants further study. | NA | {
"id": 3783,
"name": "KCNN4",
"pos": [
41,
6
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
87,
20
]
} |
GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. | genomic_alterations | {
"id": 2706,
"name": "GJB2",
"pos": [
0,
4
]
} | {
"id": "C0265336",
"name": "Senter syndrome",
"pos": [
36,
12
]
} |
P53 upregulation, BRAF-KIAA gene rearrangement, and IDH1R132H mutation typically associated with low-grade astrocytic neoplasms were absent. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
18,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
118,
9
]
} |
The abnormalities were single nucleotide substitutions of G by A and of T by C at base position 211 of UGT1A cDNA and at base position 395 of the UGT1D, respectively. | NA | {
"id": 54657,
"name": "UGT1A4",
"pos": [
146,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
4,
13
]
} |
In hypoxic fibroblasts cultured in high glucose, overexpression of GLO1 prevented reduced expression of both the EPC mobilizing chemokine stromal cell-derived factor-1 (SDF-1) and of vascular epidermal growth factor, which modulates growth and differentiation of recruited EPCs. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
192,
23
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
3,
7
]
} |
Among the canonical cancer-associated genes, only telomerase reverse transcriptase (TERT) promoter mutations were observed in the founding clone in all tumors. | genomic_alterations | {
"id": 110806263,
"name": "LOC110806263",
"pos": [
84,
14
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
152,
6
]
} |
There was a direct correlation between the MTP T128 allele and a decreased risk of hyperlipidemia after adjusting for body mass index (OR = 0.327, 95 % CI: 0.178-0.600, P < 0.001). | NA | {
"id": 4547,
"name": "MTTP",
"pos": [
43,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
118,
15
]
} |
Meanwhile, the different role of hnRNPL and SET domain containing 2 (Setd2) may provide some implication of the treatment of periodontitis patients simultaneously suffering from osteoporosis. | biomarker | {
"id": 3191,
"name": "HNRNPL",
"pos": [
33,
6
]
} | {
"id": "C0031099",
"name": "Periodontitis",
"pos": [
125,
13
]
} |
Thus, onset of muscle activity triggers ClC-1 inhibition via protein kinase C, intracellular acidosis, and lactate ions. | NA | {
"id": 1180,
"name": "CLCN1",
"pos": [
40,
5
]
} | {
"id": "C0001122",
"name": "Acidosis",
"pos": [
93,
8
]
} |
Treatment with an adenoviral vector encoding hepatocyte growth factor mitigates established cardiac dysfunction in doxorubicin-induced cardiomyopathy. | therapeutic | {
"id": 3082,
"name": "HGF",
"pos": [
45,
24
]
} | {
"id": "C0033141",
"name": "Cardiomyopathies, Primary",
"pos": [
135,
14
]
} |
A cross-sectional survey of haemophilia B carriers included a multiple choice questionnaire evaluating symptoms of mucocutaneous bleeding, joint bleeding and bleeding after haemostatic stress [menstruation, postpartum haemorrhage (PPH), dental extractions and invasive surgeries]. | NA | {
"id": 2023,
"name": "ENO1",
"pos": [
232,
3
]
} | {
"id": "C0032797",
"name": "Postpartum Hemorrhage",
"pos": [
208,
22
]
} |
The aims of the present study were three fold: i) to assess Wnt11 immunoexpression and its possible relationship with Wnt5a in high- and low-grade human serous ovarian cancer (HGSC and LGSC) specimens; ii) to assess Wnt11 expression levels in Wnt5a overexpressing SKOV-3 cells; iii) to reveal the role of Wnt11 in viability, adhesion, migration and invasion of SKOV-3 cells using recombinant human Wnt11 (rhWnt11). | NA | {
"id": 7481,
"name": "WNT11",
"pos": [
398,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
325,
8
]
} |
Over-expression of genes associated with inflammation (CD86, CD209, CLEC4, EGFR2, TFF3, among others) was observed in the CSP group. | NA | {
"id": 7033,
"name": "TFF3",
"pos": [
82,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
41,
12
]
} |
Y79 retinoblastoma cells and CD44-negative SK-N-DZ neuroblastoma cells transduced with adenoviral vectors in the presence of versican respond with an activation of transgene expression. | biomarker | {
"id": 960,
"name": "CD44",
"pos": [
29,
4
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
51,
13
]
} |
Variants of the macrophage scavenger receptor 1 (MSR1) gene have been linked to both hereditary and sporadic prostate cancer, although the evidence is inconclusive. | NA | {
"id": 4481,
"name": "MSR1",
"pos": [
49,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
100,
8
]
} |
Pending confirmation in a larger study, our results suggest that the ACT-TT genotype might be a risk factor for primary cerebral hemorrhage. | NA | {
"id": 11332,
"name": "ACOT7",
"pos": [
69,
3
]
} | {
"id": "C2937358",
"name": "Cerebral Hemorrhage",
"pos": [
120,
19
]
} |
Genetic variability in STXBP5 and STX2 affects both VWF concentration and activity in young individuals with premature arterial thrombosis. | NA | {
"id": 7450,
"name": "VWF",
"pos": [
52,
3
]
} | {
"id": "C0151942",
"name": "Arterial thrombosis",
"pos": [
119,
19
]
} |
We studied the expression of CD56, WT1, estrogen receptor-beta (ER-beta), progesterone receptor (PR), smooth muscle actin, S-100, CD34, and muscle specific actin in 16 normal ovaries, 17 ovarian fibromas, 11 ovarian cellular fibromas, 10 ovarian fibrothecomas, and 11 ovarian leiomyomas. | NA | {
"id": 4684,
"name": "NCAM1",
"pos": [
29,
4
]
} | {
"id": "C0016045",
"name": "fibroma",
"pos": [
225,
8
]
} |
In this study, we investigated the association between ACE and AGT genotypes and insulin sensitivity in a sample of 142 nondiabetic and 64 noninsulin-dependent diabetes mellitus (NIDDM) Japanese subjects, aged 62.7 +/- 9.5 years. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
56,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
82,
19
]
} |
To determine the role of methylation in colorectal cancer patients with a family history, we enrolled 25 colorectal cancer patients with a family history of colorectal cancer but without a mutation in the hMLH1 and hMSH2 genes. | genomic_alterations | {
"id": 4292,
"name": "MLH1",
"pos": [
205,
5
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
157,
17
]
} |
Cox2 and β-catenin/T-cell factor signaling intestinalize human esophageal keratinocytes when cultured under organotypic conditions. | NA | {
"id": 4513,
"name": "COX2",
"pos": [
0,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
63,
10
]
} |
In particular, focus is on the process of citrullination of Annexin A1, which takes place within NETs and that mimics, to some extent, other autoimmune conditions, such as rheumatoid arthritis, that are characterized by the presence of anti-citrullinated peptides in circulation. | biomarker | {
"id": 301,
"name": "ANXA1",
"pos": [
60,
10
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
172,
20
]
} |
Plasma PLTP is elevated in humans with end-stage kidney disease and glomerular proteinuria, but the contribution of systemic PLTP elevation to the development of renal damage is unknown. | NA | {
"id": 5360,
"name": "PLTP",
"pos": [
125,
4
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
79,
11
]
} |
Transfection of cells with HIF-1α siRNA prior to hypoxic exposure prevented the enhancement of exosome release by hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
27,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
114,
7
]
} |
Our observations provide evidence that genetic variation in HLA Class II and TP63 may modify the association between HAP and lung cancer risk. | genomic_alterations | {
"id": 8626,
"name": "TP63",
"pos": [
77,
4
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
125,
11
]
} |
In conclusion, the L66P mutation in the first doublecortin domain of the Rp1 gene impairs Rp1 protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration. | NA | {
"id": 6101,
"name": "RP1",
"pos": [
73,
8
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
140,
13
]
} |
Genetic cause was investigated in 15 probands with apical hypertrophy by DNA sequence analyses of 9 sarcomere protein genes and 3 other genes (GLA, PRKAG2, and LAMP2) implicated in idiopathic cardiac hypertrophy. | biomarker | {
"id": 51422,
"name": "PRKAG2",
"pos": [
148,
6
]
} | {
"id": "C0546466",
"name": "Idiopathic cardiac hypertrophy",
"pos": [
181,
30
]
} |
The complement factor C5a contributes to pathology in a rat model of amyotrophic lateral sclerosis. | NA | {
"id": 727,
"name": "C5",
"pos": [
22,
3
]
} | {
"id": "C0002736",
"name": "Amyotrophic Lateral Sclerosis",
"pos": [
69,
29
]
} |
B-cell lymphomas with concurrent IGH-BCL2 and c-MYC rearrangements (so-called "double-hit lymphomas" [DHL]) are a relatively rare, recently described category in the 2008 World Health Organization classification of hematopoietic neoplasms. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
33,
3
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
86,
3
]
} |
We demonstrated miR-204 exerts its function by targeting gene involved in tumor growth and chemotherapy drugs reactivity. | biomarker | {
"id": 406987,
"name": "MIR204",
"pos": [
16,
7
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
74,
5
]
} |
A possible participation of the renin-angiotensin system (RAS) components with mood disturbances has been suggested in both animal and pharmacological models. | biomarker | {
"id": 5972,
"name": "REN",
"pos": [
32,
5
]
} | {
"id": "C2939186",
"name": "Disturbance in mood",
"pos": [
79,
17
]
} |
To evaluate whether reduced expression/activity of SIK1 alone or in combination with elevated salt intake could modify the structure and function of the vasculature, leading to higher blood pressure. | NA | {
"id": 150094,
"name": "SIK1",
"pos": [
51,
4
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
184,
14
]
} |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. | therapeutic | {
"id": 847,
"name": "CAT",
"pos": [
7,
8
]
} | {
"id": "C0752048",
"name": "Hypocatalasemia",
"pos": [
71,
12
]
} |
In hilar cholangiocarcinoma, down-expression of miR-373 leads to increase of MBD2, which in turn suppresses the methylation-mediated gene such as RASSF1A. | NA | {
"id": 64174,
"name": "DPEP2",
"pos": [
77,
4
]
} | {
"id": "C0206702",
"name": "Klatskin Tumor",
"pos": [
3,
24
]
} |
We investigated the association between PON1 Q192R polymorphism and the risk of myocardial infarction (MI) and in particular, whether the association can be modified by diabetes mellitus (DM) and obesity. | genomic_alterations | {
"id": 5444,
"name": "PON1",
"pos": [
40,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
196,
7
]
} |
A multivariate analysis found plasma IL-16 positively associated with age and body mass index, and negatively associated with current smoking and emphysema in the upper lobes. | NA | {
"id": 3603,
"name": "IL16",
"pos": [
37,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
134,
7
]
} |
Evidence for antagonistic activity of endothelin for clonidine induced hypotension and bradycardia. | therapeutic | {
"id": 1908,
"name": "EDN3",
"pos": [
38,
12
]
} | {
"id": "C0428977",
"name": "Bradycardia",
"pos": [
87,
11
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.