text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
Therefore, the objectives of this study were: (1) to test whether a single session of MET increased motivation to reduce drinking and drinking outcomes; and (2) to examine whether genetic dopamine D(4) receptor L (DRD4 L) and individual personality risk factors (impulsivity and novelty seeking) moderated the effects of the MET.
|
NA
|
{
"id": 1815,
"name": "DRD4",
"pos": [
214,
4
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
134,
8
]
}
|
The long allele of DRD4 is associated with increased susceptibility to peer influences on alcohol use in young adulthood, but not earlier in development.
|
NA
|
{
"id": 1815,
"name": "DRD4",
"pos": [
19,
4
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
90,
11
]
}
|
BACKGROUND: Vascular endothelial growth factor (VEGF) is implicated in airway remodelling and asthma development.
|
NA
|
{
"id": 7422,
"name": "VEGFA",
"pos": [
48,
4
]
}
|
{
"id": "C2717792",
"name": "Airway Remodeling",
"pos": [
71,
18
]
}
|
The multifunctional protein p62 is associated with neuropathological inclusions in several neurodegenerative disorders, including frontotemporal lobar degeneration, amyotrophic lateral sclerosis and Alzheimer's disease (AD).
|
biomarker
|
{
"id": 2965,
"name": "GTF2H1",
"pos": [
28,
3
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
91,
27
]
}
|
Lack of functional C1-INH results in excessive release of bradykinin, which triggers vasodilation, vascular permeability, and edema.
|
NA
|
{
"id": 710,
"name": "SERPING1",
"pos": [
19,
6
]
}
|
{
"id": "C0013604",
"name": "Edema",
"pos": [
126,
5
]
}
|
Cryostat sections were stained with monoclonal antibodies against CD11b, a neutrophil marker, and the adhesion molecules ICAM-1 and P-Selectin.
|
NA
|
{
"id": 6403,
"name": "SELP",
"pos": [
132,
10
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
102,
8
]
}
|
Single nucleotide polymorphisms (SNPs) in the ADRB2, ADRB3, TNF, IL6, IGF1R, LIPC, LEPR, and GHRL genes were associated with the conversion from impaired glucose tolerance (IGT) to type 2 diabetes mellitus (T2D) in the Finnish Diabetes Prevention Study (DPS).
|
genomic_alterations
|
{
"id": 155,
"name": "ADRB3",
"pos": [
53,
5
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
181,
24
]
}
|
The immunohistochemical analysis of proximal tubular apical brush border membrane showed a progressive decrease of Npt2 protein labeling after ischemia and reperfusion, with progressive regeneration after 72 h. These results suggest that downregulation of Npt2 protein may contribute to the decreased tubular reabsorption of phosphate in acute ischemic renal failure and hyperphosphatemia.
|
NA
|
{
"id": 6569,
"name": "SLC34A1",
"pos": [
256,
4
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
143,
8
]
}
|
Anti-p53 reactivity is frequent in these tumors and seems to correlate with tumor aggressiveness.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
5,
3
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
82,
14
]
}
|
Rare variants in CHEK2 (I157T and possibly del1100C) also appear to be associated with CRC risk.
|
genomic_alterations
|
{
"id": 11200,
"name": "CHEK2",
"pos": [
17,
5
]
}
|
{
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
87,
3
]
}
|
Expression of IFN-gamma-inducible chemokines in inclusion body myositis.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
14,
3
]
}
|
{
"id": "C0238190",
"name": "Inclusion Body Myositis (disorder)",
"pos": [
48,
23
]
}
|
A high rate of somatic mutation in APA was found (n=91, 61.5%); including mutations in KCNJ5 (n=88, 59.5%), ATP1A1 (n=2, 1.4%), and ATP2B3 (n=1, 0.7%); however, no mutations in CACNA1D were identified.
|
NA
|
{
"id": 492,
"name": "ATP2B3",
"pos": [
132,
6
]
}
|
{
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
15,
16
]
}
|
Our results reveal a potential role for TMPRSS6 in hepcidin regulation by hypoxia and provide a new molecular link between oxygen sensing and iron homeostasis.
|
NA
|
{
"id": 57817,
"name": "HAMP",
"pos": [
51,
8
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
74,
7
]
}
|
Quantitative analysis of NF1 and OMGP gene transcripts in sporadic gliomas, sporadic meningiomas and neurofibromatosis type 1-associated plexiform neurofibromas.
|
NA
|
{
"id": 4974,
"name": "OMG",
"pos": [
33,
4
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
67,
7
]
}
|
Our previous studies showed that second mitochondria-derived activator of caspase (SMAC)/Diablo, a mitochondrial apoptogenic protein, plays an essential role in NSAID-induced apoptosis in colon cancer cells.
|
NA
|
{
"id": 84334,
"name": "COA8",
"pos": [
113,
19
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
188,
12
]
}
|
Nominal associations that did not survive correction for multiple testing were observed for NPSR1 rs324891 (T allele: OR=1.22, 95% CI: 1.07-1.38, P=0.002), TPH1 rs1800532 (AA genotype: OR=1.46, 95% CI: 1.14-1.89, P=0.003) and HTR2A rs6313 (T allele: OR=1.19, 95% CI: 1.07-1.33, P=0.002) in studies with samples of European ancestry and for MAOA-uVNTR in female PD (low-active alleles: OR=1.21, 95% CI: 1.07-1.38, P=0.004).
|
genomic_alterations
|
{
"id": 3356,
"name": "HTR2A",
"pos": [
226,
5
]
}
|
{
"id": "C0030319",
"name": "Panic Disorder",
"pos": [
361,
2
]
}
|
ART was most active against leukemia and colon cancer cell lines (mean GI50 values: 1.11+/-0.56 microM and 2.13+/-0.74 microM , respectively).
|
NA
|
{
"id": 181,
"name": "AGRP",
"pos": [
0,
3
]
}
|
{
"id": "C0023418",
"name": "leukemia",
"pos": [
28,
8
]
}
|
These data suggest that GLI1 and FOXC2 are involved in tumorigenesis and that they may be useful as diagnostic and therapeutic targets for human basal-like breast cancers.
|
NA
|
{
"id": 2735,
"name": "GLI1",
"pos": [
24,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
55,
13
]
}
|
FERMT3 correlated with M2 macrophage markers and in hierarchical cluster analysis clustered with inflammatory and macrophage markers, while FERMT2 correlated with SMC-rich plaque markers and clustered with SMC markers.
|
NA
|
{
"id": 10979,
"name": "FERMT2",
"pos": [
140,
6
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
172,
6
]
}
|
Immunohistochemistry for T-cell CD4/CD8, MUC1, MUC4, MUC17, and ECA and SNA lectins staining was performed on sections from the ulcer margins.
|
NA
|
{
"id": 6615,
"name": "SNAI1",
"pos": [
72,
3
]
}
|
{
"id": "C0041582",
"name": "Ulcer",
"pos": [
128,
5
]
}
|
In vitro, the genetic deletion of CerS6 enhanced the activation status of IFN-γ/TNF-α-stimulated neutrophils, as shown by increased expression of nitric oxide and CD11b and an increased adhesion capacity.
|
NA
|
{
"id": 3684,
"name": "ITGAM",
"pos": [
163,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
186,
8
]
}
|
REDD1 mutants that fail to bind 14-3-3 are defective in eliciting TSC2/14-3-3 dissociation and mTORC1 inhibition, while TSC2 mutants that do not bind 14-3-3 are inactive in hypoxia signaling to mTORC1.
|
NA
|
{
"id": 54541,
"name": "DDIT4",
"pos": [
0,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
173,
7
]
}
|
After the cannula operation, of the 45 rats, all the living 24 with -dp/dt(max)< or = 5250 mmHg/s, who had developed diabetic cardiomyopathy, were grouped as follows: 7 treated with double distilled H2O (I.P) were grouped into control group2 (con2).
|
NA
|
{
"id": 5542,
"name": "PRB1",
"pos": [
243,
4
]
}
|
{
"id": "C0853897",
"name": "Diabetic Cardiomyopathies",
"pos": [
117,
23
]
}
|
The Cox's proportional hazards analysis identified the pM-category with a hazard ratio (HR) of 1.860 (95% CI: 1.014-3.414) (p = 0.045), the histologic tumor type (HR: 0.334; 95% CI: 0.180-0.618) (p = 0.0001) and the operative approach (transthoracic > transhiatal esophageal resection) (HR: 0.546; 95% CI: 0.324-0.920) (p = 0.023) as independent factors with a possible influence on the long-term prognosis in patients with esophageal carcinoma, whereas CXCR4 expression was statistically not significant (>0.05).
|
NA
|
{
"id": 7852,
"name": "CXCR4",
"pos": [
454,
5
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
264,
10
]
}
|
Because alpha 1 proteinase inhibitor deficiency has a known pathogenetic role in pulmonary disease, the role of STR-3 in non-small cell lung carcinomas (NSCLC) is of great interest.
|
NA
|
{
"id": 6779,
"name": "STATH",
"pos": [
112,
3
]
}
|
{
"id": "C0024115",
"name": "Lung diseases",
"pos": [
81,
17
]
}
|
Hepatocellular carcinoma (HCC) is the most common type of liver cancer. miR-1-3p plays important roles in cancer, including prostate, bladder, lung cancer, and colorectal carcinoma.
|
biomarker
|
{
"id": 79187,
"name": "FSD1",
"pos": [
72,
5
]
}
|
{
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
160,
20
]
}
|
Transcriptional remodeling of rapidly stimulated HL-1 atrial myocytes exhibits concordance with human atrial fibrillation.
|
NA
|
{
"id": 55600,
"name": "ITLN1",
"pos": [
49,
4
]
}
|
{
"id": "C0004238",
"name": "Atrial Fibrillation",
"pos": [
102,
19
]
}
|
Finally, meta-analysis showed an association between allele 2 of the PADI4_92 polymorphism and RA in Asians (OR = 1.263, 95 % CI = 1.153-1.384, p = 5.8 × 10(-8)), but not in Caucasians (OR = 1.123, 95 % CI = 0.980-1.287, p = 0.095).
|
genomic_alterations
|
{
"id": 23569,
"name": "PADI4",
"pos": [
69,
5
]
}
|
{
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
95,
2
]
}
|
Association between TRAIL gene polymorphisms and the susceptibility and severity of lumbar disc degeneration.
|
genomic_alterations
|
{
"id": 8743,
"name": "TNFSF10",
"pos": [
20,
5
]
}
|
{
"id": "C0263874",
"name": "Degeneration of lumbar intervertebral disc",
"pos": [
84,
24
]
}
|
Neuropathological findings were characterized by numerous axonal spheroids, brain iron deposition, cerebellar neuronal loss, phosphorylated alpha-synuclein-positive Lewy bodies (LBs), and phosphorylated-tau-positive neurofibrillary tangles.
|
NA
|
{
"id": 6622,
"name": "SNCA",
"pos": [
140,
15
]
}
|
{
"id": "C0085400",
"name": "Neurofibrillary degeneration (morphologic abnormality)",
"pos": [
216,
23
]
}
|
Interestingly, the effects of JMJD2B on cell growth under hypoxia were remarkably repressed after gamma-ray irradiation.
|
NA
|
{
"id": 23030,
"name": "KDM4B",
"pos": [
30,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
58,
7
]
}
|
In the present study, we analyzed 13 genitourinary cancer cell lines for aberrant DNA methylation of 5 tumor-related genes using methylation- specific polymerase chain reaction (MSP).
|
NA
|
{
"id": 89782,
"name": "LMLN",
"pos": [
178,
3
]
}
|
{
"id": "C0751569",
"name": "Genitourinary Cancer",
"pos": [
37,
20
]
}
|
In stratified analyses, homozygosity for the NOS3 T allele in obese white participants but not in those whose BMI <30 kg/m(2) was associated with an elevated risk of diabetes (OR = 1.47, p = 0.02) when compared to the common GG genotype.
|
genomic_alterations
|
{
"id": 4846,
"name": "NOS3",
"pos": [
45,
4
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
169,
8
]
}
|
ATX increases the proliferation and migration of thyroid carcinoma cell lines and may also affect the angiogenic potential of thyroid carcinoma cells.
|
NA
|
{
"id": 5168,
"name": "ENPP2",
"pos": [
0,
3
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
134,
9
]
}
|
In rare cases, FUS can substitute for EWS, with translocation t(16;21)(p11;q24) producing a FUS-ERG fusion with no EWS rearrangement.
|
NA
|
{
"id": 8909,
"name": "ENDOU",
"pos": [
71,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
48,
13
]
}
|
Lipofection-mediated gene transfers were performed with these 3 constructs and a control plasmid, pCDNA3, in 3 human prostate cancer cell lines (LNCaP, DU-145, PC-3) and 5 other cell lines (Cos-1 [monkey kidney], HL-60 [human myeloid leukemia], Hep G2 [human hepatoma], NCI H460 [human lung cancer] and SW 480 [human colon cancer]).
|
NA
|
{
"id": 692094,
"name": "MSMP",
"pos": [
160,
4
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
286,
11
]
}
|
GEP modeling is a promising and excellent tool in diagnosis of lung cancer.
|
NA
|
{
"id": 2768,
"name": "GNA12",
"pos": [
0,
3
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
63,
11
]
}
|
A gene, bcl-3, is found on chromosome 19 adjacent to the breakpoints in the translocation t(14;19)(q32;q13.1), which occurs in some cases of chronic lymphocytic leukemia.
|
genomic_alterations
|
{
"id": 602,
"name": "BCL3",
"pos": [
8,
5
]
}
|
{
"id": "C0023434",
"name": "Chronic Lymphocytic Leukemia",
"pos": [
141,
28
]
}
|
TREM-1 associated with DAP12 in hypoxic mDCs, and its engagement elicited DAP12-linked signaling, resulting in ERK-1, Akt, and IκBα phosphorylation and proinflammatory cytokine and chemokine secretion.
|
NA
|
{
"id": 54210,
"name": "TREM1",
"pos": [
0,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
32,
7
]
}
|
Upregulation of a novel lncRNA LINC01980 promotes tumor growth of esophageal squamous cell carcinoma.
|
biomarker
|
{
"id": 105377007,
"name": "LINC01980",
"pos": [
31,
9
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
50,
5
]
}
|
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127.
|
genomic_alterations
|
{
"id": 55654,
"name": "TMEM127",
"pos": [
225,
7
]
}
|
{
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
83,
14
]
}
|
The diagnosis of bone marrow (BM) infiltration by Waldenström macroglobulinemia (WM)/lymphoplasmacytic lymphoma (LPL) poses a diagnostic challenge in hematopathology.
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
113,
3
]
}
|
{
"id": "C0024419",
"name": "Waldenstrom Macroglobulinemia",
"pos": [
62,
17
]
}
|
We report the case of a female HA patient with a moderate decrease of factor (F) VIII activity and antigen (FVIII:C 3.4%, FVIII:Ag 4.2%) and severe bleeding symptoms.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
81,
4
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
148,
8
]
}
|
The Ste20-related protein proline/alanine-rich kinase (SPAK) plays important roles in cellular functions such as cell differentiation and regulation of chloride transport, but its roles in pathogenesis of intestinal inflammation remain largely unknown.
|
NA
|
{
"id": 27347,
"name": "STK39",
"pos": [
55,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
216,
12
]
}
|
However, since many of these agents engage other effectors, the role of (PPAR(gamma) in lung tumorigenesis remains poorly defined.
|
NA
|
{
"id": 5465,
"name": "PPARA",
"pos": [
73,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
93,
13
]
}
|
The purpose of this study was to investigate whether miR-26a, regulated by a human α-fetoprotein (hAFP) and human telomerase reverse transcriptase (hTERT) dual promoter, could be specifically expressed in liver tumor cells to suppress their growth and to clarify whether estrogen receptor-α (ERα) is regulated by miR-26a and involved in the HCC process.
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
341,
3
]
}
|
{
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
205,
11
]
}
|
Reconstitution with wild-type kindlin-1 but not with a β1-binding defective mutant restored the aberrant β1 expression and glycosylation, and normalized cell morphology, adhesion, spreading, and migration.
|
NA
|
{
"id": 55612,
"name": "FERMT1",
"pos": [
30,
9
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
170,
8
]
}
|
Five single nucleoside polymorphisms of the TPH1 gene were studied in a population-based sample of postpartum Taiwanese women consisting of 120 subjects with depression or/and anxiety and 86 matched normal controls.
|
genomic_alterations
|
{
"id": 7166,
"name": "TPH1",
"pos": [
44,
4
]
}
|
{
"id": "C0011570",
"name": "Mental Depression",
"pos": [
158,
10
]
}
|
Our goal was to set up a pilot study to explore the possible relation between the expression of p66((ShcA)) and PTX3, two emerging regulators of stress response and inflammation processes, respectively, and the circulating levels of LDL-cholesterol (LDL), a factor implicated in the development of inflammation and oxidative-stress associated diseases such as atherosclerosis.
|
NA
|
{
"id": 6464,
"name": "SHC1",
"pos": [
101,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
298,
12
]
}
|
The surprising magnitude and the mitogenic and mutagenic nature of the effect exerted by GPC1 on the cell cycle imply that GPC1 may play an important role in both glioma tumorigenesis and growth.
|
NA
|
{
"id": 2817,
"name": "GPC1",
"pos": [
123,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
170,
13
]
}
|
We evaluated its relevance as independent prognosticator for overall survival and time to treatment (TTT) in a series of 303 (232 for TTT) CLLs, in comparison with other biologic or clinical prognosticators (CD38, ZAP-70, immunoglobulin variable heavy chain (IGHV) gene status, cytogenetic abnormalities, soluble CD23, beta2-microglobulin, Rai staging).
|
NA
|
{
"id": 4760,
"name": "NEUROD1",
"pos": [
319,
5
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
278,
25
]
}
|
Taken together, our data suggest that CLU may regulate EMT and aggressive behaviour of human lung adenocarcinoma cells through modulating ERK signalling and Slug expression.
|
NA
|
{
"id": 3702,
"name": "ITK",
"pos": [
55,
3
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
93,
19
]
}
|
PI3K signalling in inflammation.
|
NA
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
0,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
19,
12
]
}
|
In invasive breast cancer, expression of DDX3 was correlated with overexpression of HIF-1α and many other hypoxia related proteins, pointing to a distinct role for DDX3 under hypoxic conditions and supporting the oncogenic role of DDX3 which could have clinical implication for current development of DDX3 inhibitors.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
84,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
175,
7
]
}
|
In diabetic subjects, increased p22(phox) gene expression was negatively correlated with HO-1 and positively correlated with TBARS, PCO, HbA(1c) and diabetes duration.
|
NA
|
{
"id": 11261,
"name": "CHP1",
"pos": [
32,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
149,
8
]
}
|
A marginally significant increase in AA allelic frequency of the RXRA A39526AA polymorphism in plaque psoriatic men compared to healthy men was proved.
|
NA
|
{
"id": 6256,
"name": "RXRA",
"pos": [
65,
4
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
95,
6
]
}
|
Elevated levels of TWEAK in skeletal muscle promote visceral obesity, insulin resistance, and metabolic dysfunction.
|
NA
|
{
"id": 8742,
"name": "TNFSF12",
"pos": [
19,
5
]
}
|
{
"id": "C2936179",
"name": "Obesity, Visceral",
"pos": [
52,
16
]
}
|
In 665 EGFR-mutated patients who were evaluable for tumor response, the ORR and DCR were 49.2% (327/665) and 92.3% (614/665), respectively.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
7,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
52,
5
]
}
|
On completion of an earlier study involving three vaccinations while taking combination antiretroviral therapy (CART), twenty-five subjects with plasma viral load (pVL) <50 copies/mL received a booster vaccination with either placebo (n = 7); fowl pox vaccine (rFPV) expressing HIV-1 Gag/Pol; [partial construct- PC (n = 8)] or rFPV coexpressing HIV-1 Gag/Pol and human interferon gamma[full construct - FC (n = 10)].
|
NA
|
{
"id": 3458,
"name": "IFNG",
"pos": [
370,
16
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
152,
10
]
}
|
The aim of the present study was to examine the impact of a novel NHE1 inhibitor, sabiporide, on cardiovascular function, blood oxygen transportation, and inflammatory response in an experimental model of metabolic acidosis produced by hemorrhage-induced hypovolemia followed by an infusion of lactic acid.
|
NA
|
{
"id": 6548,
"name": "SLC9A1",
"pos": [
66,
4
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
236,
10
]
}
|
Its molecular basis has remained poorly understood until the past few years, when several proteins and genes [such as testicular orphan nuclear receptor 4 (TR4) and heat shock protein 90 (HSP90)] were found to play key roles in the disease.
|
NA
|
{
"id": 7182,
"name": "NR2C2",
"pos": [
156,
3
]
}
|
{
"id": "C0036974",
"name": "Shock",
"pos": [
170,
5
]
}
|
The CD subtype of AMD was significantly associated with current smoking as well as variants in the complement factor H (CFH), age-related maculopathy susceptibility 2 (ARMS2), complement factor B/complement component 2 (CFB/C2), complement component 3 (C3), and apolipoprotein E (APOE) genes.
|
NA
|
{
"id": 3075,
"name": "CFH",
"pos": [
120,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
64,
7
]
}
|
PIK3CA(H1047R) expression alone failed to promote tumor formation, but dramatically enhanced tumorigenesis initiated by KRAS(G12D).
|
NA
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
0,
6
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
93,
13
]
}
|
We assessed whether polymorphisms of GST genes (GSTM1, GSTT1, and GSTP1) are associated with asthma and atopy among Tunisian children.
|
NA
|
{
"id": 2944,
"name": "GSTM1",
"pos": [
48,
5
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
104,
5
]
}
|
The purpose of this review is to outline and analyze the following four topics: 1) SCN5A genetic variants linked to different cardiomyopathies; 2) clinical manifestations of the known mutations; 3) possible molecular mechanisms of myocardial remodeling; and 4) the potential implications of gene-specific treatment for those disorders.
|
genomic_alterations
|
{
"id": 6331,
"name": "SCN5A",
"pos": [
83,
5
]
}
|
{
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
126,
16
]
}
|
An occasional variant translocation t(1;13)(p36;q14) affecting PAX7 and FKHR on chromosomes 1 and 13, respectively, has also been described.
|
NA
|
{
"id": 5081,
"name": "PAX7",
"pos": [
63,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
22,
13
]
}
|
Importantly, in lung cancer tissues, upregulation of mdig expression accompanies with the downregulation of p27(KIP1) expression and in bronchial stump, vice versa.
|
NA
|
{
"id": 84864,
"name": "RIOX2",
"pos": [
53,
4
]
}
|
{
"id": "C0002690",
"name": "Amputation Stumps",
"pos": [
146,
5
]
}
|
In this study, we performed a case-control study to demonstrate whether the risk for the development of onset of sporadic PD might be influenced by VDR gene polymorphisms in a Chinese cohort.
|
NA
|
{
"id": 7421,
"name": "VDR",
"pos": [
148,
8
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
113,
8
]
}
|
Hypertension, diabetes, smoking, total cholesterol, triglycerides, LDLc, HDLc and TT genotype of the eNOS gene were independent risk factors for the development of PCAD.
|
NA
|
{
"id": 1001,
"name": "CDH3",
"pos": [
164,
4
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
14,
8
]
}
|
This study demonstrates the use of FAM-TOC in the selective fluorescent identification of meningioma cells in vitro.
|
biomarker
|
{
"id": 79651,
"name": "RHBDF2",
"pos": [
39,
3
]
}
|
{
"id": "C1762616",
"name": "Meningioma, benign, no ICD-O subtype",
"pos": [
90,
10
]
}
|
A diagnostic mammogram shows findings suspicious for malignancy (Breast Imaging Reporting and Data System [BI-RADS] 4), and core biopsy demonstrates an invasive ductal carcinoma with both estrogen and progesterone receptor-positive staining.
|
biomarker
|
{
"id": 5241,
"name": "PGR",
"pos": [
201,
21
]
}
|
{
"id": "C1134719",
"name": "Invasive Ductal Breast Carcinoma",
"pos": [
152,
25
]
}
|
Replacement therapy with plasma-derived von Willebrand factor-factor VIII concentrates represents the safe mainstay of treatment of all patients, particularly those not responding to desmopressin or requiring a sustained hemostatic correction because of major surgery or bleeding.
|
NA
|
{
"id": 2157,
"name": "F8",
"pos": [
62,
11
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
271,
8
]
}
|
In addition, seven of seven cases with balanced EGFR/HER2 polysomy and two of three cases with balanced EGFR/HER2 trisomy responded to gefitinib (75% of responders).
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
109,
4
]
}
|
{
"id": "C0041107",
"name": "Trisomy",
"pos": [
114,
7
]
}
|
Results show that hypoxia increases neutrophil phagocytosis by macrophages and induces the expression of CD36 and TSP-1.
|
NA
|
{
"id": 948,
"name": "CD36",
"pos": [
105,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
18,
7
]
}
|
This N-glyco subproteome alone allowed the segregation of the ABC from the GCB subtypes of diffuse large B-cell lymphoma, which before gene expression studies had been considered one disease entity.
|
genomic_alterations
|
{
"id": 4882,
"name": "NPR2",
"pos": [
75,
3
]
}
|
{
"id": "C1332201",
"name": "Adult Diffuse Large B-Cell Lymphoma",
"pos": [
91,
29
]
}
|
No significant association was observed for any individual SNPs or genes, but a marginal association of the cumulative genetic variation of the NCOA2 complex as a whole (NCOA2, CARM1, CREBBP, PRMT1 and EP300) with endometrial cancer risk was observed (P(adjusted) = 0.033).
|
biomarker
|
{
"id": 3276,
"name": "PRMT1",
"pos": [
192,
5
]
}
|
{
"id": "C0007103",
"name": "Malignant neoplasm of endometrium",
"pos": [
214,
18
]
}
|
To investigate the effects of known genetic modifiers, genomic DNA on 190 randomized subjects were analyzed for alpha thalassemia, beta-globin haplotype, polymorphisms affecting endogenous fetal hemoglobin (HbF) levels (XmnI, BCL11A, and HBS1L-MYB), UGT1A1 promoter polymorphisms, and the common G6PD A(-) mutation.
|
genomic_alterations
|
{
"id": 10767,
"name": "HBS1L",
"pos": [
238,
5
]
}
|
{
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
112,
17
]
}
|
Immune abnormalities in serum were evaluated by testing for antinuclear antibody (ANA), rheumatoid factor (RF) activity, immunoglobulins (IgG, IgM, and IgA), and cryoglobulin.
|
NA
|
{
"id": 10950,
"name": "BTG3",
"pos": [
82,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
7,
13
]
}
|
Therefore, CUSP appears to be present, unmutated, and yet frequently undetectable by immunofluorescence in cutaneous lesions in both humans and mice that are associated with SHH pathway dysregulation (BCCs, BCNS, and nevus sebaceous).
|
NA
|
{
"id": 6469,
"name": "SHH",
"pos": [
174,
3
]
}
|
{
"id": "C4552097",
"name": "Nevus Sebaceus of Jadassohn",
"pos": [
217,
15
]
}
|
The allele flip observed in IL-10 and gastric cancer appears to reflect allelic heterogeneity, similar to that observed in IL-1B.
|
genomic_alterations
|
{
"id": 3586,
"name": "IL10",
"pos": [
28,
5
]
}
|
{
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
38,
14
]
}
|
Doxorubicin treatment resulted in heavy proteinuria (>100 mg protein/mg crea) in 15/44 of sgk1(+/+) and 15/44 of sgk1(-/-) mice leading to severe nephrotic syndrome with ascites, lipidemia, and hypoalbuminemia in both genotypes.
|
NA
|
{
"id": 6446,
"name": "SGK1",
"pos": [
113,
4
]
}
|
{
"id": "C4022830",
"name": "Heavy proteinuria",
"pos": [
34,
17
]
}
|
Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure.
|
genomic_alterations
|
{
"id": 7273,
"name": "TTN",
"pos": [
46,
5
]
}
|
{
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
218,
13
]
}
|
Tumor fibroblast-derived epiregulin promotes growth of colitis-associated neoplasms through ERK.
|
NA
|
{
"id": 2069,
"name": "EREG",
"pos": [
25,
10
]
}
|
{
"id": "C0009319",
"name": "Colitis",
"pos": [
55,
7
]
}
|
The HSF4 mutations have been reported in four families with autosomal dominant cataracts and, recently, in a single kindred with autosomal recessive congenital cataract.
|
genomic_alterations
|
{
"id": 3299,
"name": "HSF4",
"pos": [
4,
4
]
}
|
{
"id": "C0086543",
"name": "Cataract",
"pos": [
79,
9
]
}
|
In terms of the two major smoking-related diseases of the lung, that is, emphysema and lung cancer, a fully functional Nrf2 genotype seems to be necessary, although not sufficient by itself, to protect the smoker from acquiring emphysema.
|
NA
|
{
"id": 2551,
"name": "GABPA",
"pos": [
119,
4
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
26,
7
]
}
|
The differential expression of recombinant AAV-2 vectors in hematopoietic and epithelial tumor cells warrants further research with this vector system, including the use of suicide genes for the purging of autologous HSC grafts.
|
NA
|
{
"id": 17,
"name": "AAVS1",
"pos": [
43,
3
]
}
|
{
"id": "C1368683",
"name": "Epithelioma",
"pos": [
78,
16
]
}
|
CD117(+) (mono)clonal plasma cells were detected in 30% symptomatic multiple myeloma, 45% smoldering multiple myeloma and 72% monoclonal gammopathy of undetermined significance patients.
|
NA
|
{
"id": 3815,
"name": "KIT",
"pos": [
0,
5
]
}
|
{
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
10,
4
]
}
|
TP53 Arg72Pro polymorphism has been proposed to have some effects on host's susceptibility to cancer.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
0,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
94,
6
]
}
|
It can also be argued that because of striking clinical resemblance between Dravet and various epileptic and encephalopathic syndromes associated with SCN1A gene mutations and SSPE, SCN1A gene abnormalities may also be responsible for susceptibility to SSPE in measles infected children.
|
NA
|
{
"id": 6323,
"name": "SCN1A",
"pos": [
182,
10
]
}
|
{
"id": "C0025007",
"name": "Measles",
"pos": [
261,
7
]
}
|
There are two major hereditary colorectal cancer syndromes: Adenomatous Polyposis, secondary to APC germline alterations (FAP, Familial Adenomatous Polyposis) or secondary to MUTYH germline alterations (MAP, MUTYH associated Polyposis), and Lynch syndrome, associated with germline mutations in mismatch repair genes (MLH1, MSH2, MSH6 and PMS2).
|
genomic_alterations
|
{
"id": 5395,
"name": "PMS2",
"pos": [
339,
4
]
}
|
{
"id": "C4552100",
"name": "Lynch Syndrome",
"pos": [
241,
14
]
}
|
In this study, we found that LINC00152 modulated Rab10 to promote cell proliferation, migration and invasion in ESCC by sponging miR-107.
|
biomarker
|
{
"id": 112597,
"name": "CYTOR",
"pos": [
29,
9
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
100,
8
]
}
|
Here, behavioral measures in SP1 mice were compared with those of their age-matched controls (NTg) at two time points: when there was not yet a group body weight difference ("pre-obese") and when SP1 mice were heavier ("obese").
|
NA
|
{
"id": 6667,
"name": "SP1",
"pos": [
196,
3
]
}
|
{
"id": "C0028754",
"name": "Obesity",
"pos": [
220,
5
]
}
|
Genomic regions with low-copy number gains and losses and high-level amplifications were similar to what has been reported in sporadic breast tumors, however, the frequency of amplifications of the 17q12 region containing human epidermal growth factor receptor 2 (HER2) was much higher among CCSS cases (38%, n = 12).
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
264,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
126,
8
]
}
|
The results showed that 30 nM FA was associated with increased frequencies of micronucleated binucleated cell (MNed BNC), nucleoplasmic bridges (NPB), nuclear buds (BUD), apoptosis (APO) and necrosis (NEC) relative to 120 and 240 nM FA (P<0.001) in lymphocytes of case and control groups in vitro, however there were no significant differences between the 120 and 240 nM FA within each sampling group.
|
NA
|
{
"id": 646,
"name": "BNC1",
"pos": [
116,
3
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
191,
8
]
}
|
We used quantitative real-time PCR to measure expressions of SRp20, SRp30c, SC35, SRp40, SRp46, SRp54, SRp55, SRp75, ASF/SF2, and 9G8 mRNA in peripheral white blood cells of 33 mood disorder patients during a depressive episode.
|
NA
|
{
"id": 6429,
"name": "SRSF4",
"pos": [
110,
5
]
}
|
{
"id": "C0525045",
"name": "Mood Disorders",
"pos": [
177,
13
]
}
|
The overall psychopathological burden, as measured by the SCL-90 Global Severity Index (GSI), significantly decreased during the study period (Z = -2.689; p = 0.007), with a relevant improvement with regards to depressive symptoms, anhedonia, and anxiety.
|
genomic_alterations
|
{
"id": 6886,
"name": "TAL1",
"pos": [
58,
3
]
}
|
{
"id": "C0003467",
"name": "Anxiety",
"pos": [
247,
7
]
}
|
A drop in CA125 levels after RRBSO in BRCA1 carriers supports the finding of earlier studies, but differed in that the fall was not seen in BRCA2 carriers.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
38,
5
]
}
|
{
"id": "C0085639",
"name": "Falls",
"pos": [
119,
4
]
}
|
The association between Nek1 and VDAC1 is genotoxic dependent: prolonged Nek1/VDAC1 dissociation will lead to VDAC1 dephosphorylation and initiate apoptosis.
|
NA
|
{
"id": 4750,
"name": "NEK1",
"pos": [
73,
4
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
84,
12
]
}
|
Although limited to date, previous studies have suggested that NF1 (17q), NF2 (22q), p16 (9p), and EGFR (7p) alterations may be involved in MPNST tumorigenesis.
|
genomic_alterations
|
{
"id": 115482713,
"name": "H3P10",
"pos": [
85,
3
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
146,
13
]
}
|
Overexpression of the transcriptional coregulator Cited2 protects against glucocorticoid-induced atrophy of C2C12 myotubes.
|
therapeutic
|
{
"id": 10370,
"name": "CITED2",
"pos": [
50,
6
]
}
|
{
"id": "C0270948",
"name": "Neurogenic Muscular Atrophy",
"pos": [
97,
7
]
}
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.