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The septic shock-associated IL-10 -1082 A > G polymorphism mediates allele-specific transcription via poly(ADP-Ribose) polymerase 1 in macrophages engulfing apoptotic cells. | NA | {
"id": 142,
"name": "PARP1",
"pos": [
102,
29
]
} | {
"id": "C0036983",
"name": "Septic Shock",
"pos": [
4,
12
]
} |
The loci associated in non-smoking, but not in smoking, CD patients were IL23R (rs7517847), 5p13.1 (rs9292777), IRGM (rs13361189 and rs4958847), IL12B (rs6887695), and CCNY (rs3936503). | NA | {
"id": 149233,
"name": "IL23R",
"pos": [
73,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
47,
7
]
} |
Multiple regression analyses indicated that the left ventricular mass/height ratio was determined ( p<0.0001, R=0.738) by the TNNT2 genotype. | NA | {
"id": 7139,
"name": "TNNT2",
"pos": [
126,
5
]
} | {
"id": "C0455825",
"name": "Left ventricular mass",
"pos": [
48,
21
]
} |
In addition to hormone receptor status and Ki-67, HER2/neu+ and topoisomerase-II-alpha status using fluorescence in situ hybridisation (FISH) and immunohistochemistry, TIMP-1 using immunohistochemistry, and aneuploidy of chromosome 17 using FISH were evaluated and correlated with outcome and taxane benefit. | NA | {
"id": 3164,
"name": "NR4A1",
"pos": [
15,
16
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
207,
10
]
} |
The combined results based on all studies showed that the GSTM1 null genotype was associated with an increased risk of gastric cancer (OR = 1.15, 95% confidence interval [CI] = 1.02, 1.29). | genomic_alterations | {
"id": 2944,
"name": "GSTM1",
"pos": [
58,
5
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
119,
14
]
} |
Cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q and 11q, resulting in monosomy 11q23.3-qter and trisomy 8q24.3-qter. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
60,
4
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
170,
7
]
} |
The present study would enrich the database of CLCN7 mutations and improve our understanding of this heritable bone disorder. | genomic_alterations | {
"id": 1186,
"name": "CLCN7",
"pos": [
47,
5
]
} | {
"id": "C0005940",
"name": "Bone Diseases",
"pos": [
111,
13
]
} |
To evaluate the correlation between the level of (18)F-fluoro-2-deoxyglucose ((18)F-FDG) uptake and glucose transporter 1 (GLUT1) expression in colorectal adenocarcinoma (CRA). | NA | {
"id": 51747,
"name": "LUC7L3",
"pos": [
171,
3
]
} | {
"id": "C1319315",
"name": "Adenocarcinoma of large intestine",
"pos": [
144,
25
]
} |
We describe the case of a young Lebanese woman with systemic lupus erythematosus (SLE) and a positive lupus anticoagulant (LAC) who developed right internal jugular vein and sigmoid sinus thrombosis. | NA | {
"id": 3938,
"name": "LCT",
"pos": [
123,
3
]
} | {
"id": "C4321325",
"name": "Lupus anticoagulant -- finding",
"pos": [
102,
19
]
} |
We assessed the CpG island methylator phenotype (CIMP) using eight methylation markers [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and LINE-1 (L1) hypomethylation, TP53 (p53), and microsatellite instability (MSI). | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
119,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
208,
26
]
} |
The infected KDP rats developed large granulomas without central necrosis in their lungs, liver or spleen. | NA | {
"id": 65125,
"name": "WNK1",
"pos": [
13,
3
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
65,
8
]
} |
In older mice membranous debris was observed within the deposits and within Bruch's membrane, and was accompanied by general RPE and choroidal abnormalities including degeneration, vacuolation, loss or disruption of the RPE basal infoldings, choroidal atrophy, and focal thickening of and invasion of cellular processes into Bruch's membrane. | NA | {
"id": 6120,
"name": "RPE",
"pos": [
220,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
143,
13
]
} |
We found that whereas three tumors including hepatocarcinoma, lung cancer, and osteogenic sarcoma grew slower in the RBP-J-deficient mice, at least a melanoma, B16, grew significantly faster in the RBP-J-deficient mice than in the controls, suggesting that the RBP-J-deficient hosts could provide permissive cues for tumor growth. | NA | {
"id": 3516,
"name": "RBPJ",
"pos": [
261,
5
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
45,
15
]
} |
Our results suggest that COUP-TFII might be an important regulator of the behavior of pancreatic adenocarcinoma, thus representing a possible new target for pancreatic cancer therapy. | NA | {
"id": 7026,
"name": "NR2F2",
"pos": [
25,
9
]
} | {
"id": "C0281361",
"name": "Adenocarcinoma of pancreas",
"pos": [
86,
25
]
} |
Mutations in rfx6 were recently associated with Mitchell-Riley syndrome, which involves neonatal diabetes, and other digestive system defects. | genomic_alterations | {
"id": 222546,
"name": "RFX6",
"pos": [
13,
4
]
} | {
"id": "C2748662",
"name": "Mitchell-Riley Syndrome",
"pos": [
48,
23
]
} |
Second, although the strongest genetic risk alleles for NAFLD (ie, the 148Met allele in PNPLA3 and the 167Lys allele in TM6SF2) are associated with increased liver fat content and progression to NASH and cirrhosis, these alleles are also unexpectedly associated with an apparent protection from cardiovascular disease. | genomic_alterations | {
"id": 53345,
"name": "TM6SF2",
"pos": [
120,
6
]
} | {
"id": "C0023890",
"name": "Liver Cirrhosis",
"pos": [
204,
9
]
} |
Analysis of the transcriptional activity of the two most common p53 mutants found in human breast tumors that are associated with resistance to doxorubicin reveals that these mutations completely eliminate the ability of p53 protein to transactivate CD95 gene expression. | genomic_alterations | {
"id": 355,
"name": "FAS",
"pos": [
250,
4
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
91,
13
]
} |
Assay of IL-6, IL-11, and LIF protein in conditioned medium from early and advanced melanoma lines gave no evidence of coordinate expression of these cytokines. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
9,
4
]
} | {
"id": "C4727838",
"name": "Advanced Melanoma",
"pos": [
75,
17
]
} |
The aim of this study was to investigate the expression of cannabinoid receptors CB1 and CB2, neurotrophin NGF and NT-3 and their receptors TrkA and TrkC in glioma and endothelial cells. | biomarker | {
"id": 4803,
"name": "NGF",
"pos": [
107,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
157,
6
]
} |
Initially, carriers of the AD-protective AKR1C3 2 G allele had higher levels of 5α-androstane-3α,17β-diol relative to the precursor 3α,5α-androsterone than C allele homozygotes. | genomic_alterations | {
"id": 8644,
"name": "AKR1C3",
"pos": [
41,
6
]
} | {
"id": "C0001973",
"name": "Alcoholic Intoxication, Chronic",
"pos": [
27,
2
]
} |
Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. | NA | {
"id": 7512,
"name": "XPNPEP2",
"pos": [
76,
7
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
28,
13
]
} |
An investigation of 22 new patients with Shwachman-Diamond syndrome (SDS) and the follow-up of 14 previously reported cases showed that (i) clonal chromosome changes of chromosomes 7 and 20 were present in the bone marrow (BM) of 16 out of 36 cases, but if non-clonal changes were taken into account, the frequency of anomalies affecting these chromosomes was 20/36: a specific SDS karyotype instability was thus confirmed; (ii) the recurrent isochromosome i(7)(q10) did not include short arm material, whereas it retained two arrays of D7Z1 alphoid sequences; (iii) the deletion del(20)(q11) involved the minimal region of deletion typical of myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML); (iv) only one patient developed MDS, during the rapid expansion of a BM clone with a chromosome 7 carrying additional material on the short arms; (v) the acquisition of BM clonal chromosome anomalies was age-related. | NA | {
"id": 27161,
"name": "AGO2",
"pos": [
462,
3
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
644,
25
]
} |
In addition to causing regression of the Mullerian duct in the male embryo, Mullerian Inhibiting Substance (MIS) inhibits the growth of epithelial ovarian cancer cells, which are known to be of Mullerian origin. | NA | {
"id": 268,
"name": "AMH",
"pos": [
108,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
23,
10
]
} |
TP53 somatic mutations were detected in 25 of the 46 BRCA1 cases and 40 of the 93 sporadic cases (54.3% vs. 43.0%). | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
53,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
82,
8
]
} |
Site of mutation was not associated with the presence or age of onset of stroke, migraine, dementia, dependency or MRI lesion load. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
115,
3
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
73,
6
]
} |
The present results indicate an important novel mechanism for HG‑induced myocardial fibrosis and suggest that CaSR may be a promising potential therapeutic target for DCM. | biomarker | {
"id": 846,
"name": "CASR",
"pos": [
110,
4
]
} | {
"id": "C1449563",
"name": "Cardiomyopathy, Familial Idiopathic",
"pos": [
167,
3
]
} |
PRKCH 1425G/A in stroke susceptibility differed between infarction subtypes and age groups. | genomic_alterations | {
"id": 5583,
"name": "PRKCH",
"pos": [
0,
5
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
17,
6
]
} |
RT-PCR showed the expression of mRNA for VIP in normal and malignant tissues, whereas VIP levels, as measured by enzyme immuno-analysis, were about two times higher in adenocarcinoma samples. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
86,
3
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
168,
14
]
} |
Our results show that the distribution of PAF-AH mass between HDLs and LDLs is determined partly by the concentrations of the lipoproteins and partly by the mass of enzyme per lipoprotein particle, which is disturbed in hyperlipidemia and diabetes mellitus. | biomarker | {
"id": 7941,
"name": "PLA2G7",
"pos": [
42,
6
]
} | {
"id": "C0020473",
"name": "Hyperlipidemia",
"pos": [
220,
14
]
} |
The rs1800795 IL-6 promoter SNP is an independent prognostic factor for EFS and OS in high-risk neuroblastoma patients. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
14,
4
]
} | {
"id": "C4725671",
"name": "High-Risk Neuroblastoma",
"pos": [
86,
23
]
} |
In the first part of this review, we briefly discuss the function and regulation of the BRCA1 protein, including its role associated with familial and sporadic breast cancer. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
88,
5
]
} | {
"id": "C1611743",
"name": "Familial (FPAH)",
"pos": [
138,
8
]
} |
Identification of the angiogenic gene signature induced by EGF and hypoxia in colorectal cancer. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
59,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
67,
7
]
} |
Ubiquitin-conjugating enzyme E2 N (UBE2N), also known as Ubc13, is an E2 ubiquitin-conjugating enzyme that promotes formation of monomeric p53 that results in its cytoplasmic translocation and subsequent loss of function. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
139,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
175,
13
]
} |
Further studies revealed that enhanced renal fibrosis and inflammation in Smad7 KO mice with diabetes were associated with increased activation of both TGF-β/Smad2/3 and nuclear factor-κB (NF-κB) signaling pathways. | NA | {
"id": 4087,
"name": "SMAD2",
"pos": [
158,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
58,
12
]
} |
In addition, LLI significantly decreased caspase 9 and caspase 3 activities caused by ischemia-reperfusion. | NA | {
"id": 842,
"name": "CASP9",
"pos": [
41,
9
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
86,
8
]
} |
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. | biomarker | {
"id": 7084,
"name": "TK2",
"pos": [
0,
18
]
} | {
"id": "C3266262",
"name": "Multiple Chronic Conditions",
"pos": [
37,
5
]
} |
We have now investigated whether in obesity: (1) phosphorylated insulin receptor beta subunit (p-INSR-beta) is reduced in the MNC; (2) pro-inflammatory mediators including inhibitor of kappa light polypeptide gene enhancer in B cells-kinase beta (IKBKB), suppressor of cytokine signalling-3 (SOCS) and protein kinase C-beta 2 (PRKCB2) are increased and related to p-INSR-beta; and (3) the reduction in MNC p-INSR-beta is related to the reduction in insulin sensitivity. | NA | {
"id": 1154,
"name": "CISH",
"pos": [
292,
4
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
449,
19
]
} |
In the present investigation, the differential binding of previously characterized endothelial cell (EC)- and smooth muscle cell (SMC)-derived PGs to A beta was examined to determine whether the accumulation of A beta in cerebrovascular amyloid deposits may be due to its interactions with perlecan. | NA | {
"id": 3339,
"name": "HSPG2",
"pos": [
291,
8
]
} | {
"id": "C2936349",
"name": "Plaque, Amyloid",
"pos": [
238,
16
]
} |
Intermittent dosing of G-CSF to ameliorate carbon tetrachloride-induced liver fibrosis in mice. | therapeutic | {
"id": 1440,
"name": "CSF3",
"pos": [
25,
4
]
} | {
"id": "C3658290",
"name": "Drug-Induced Acute Liver Injury",
"pos": [
72,
14
]
} |
Additionally, the combined genotype of CYP3A4*18B and OPRM1 A118G may affect fentanyl doses administered for pain control, but not postoperative nausea, vomiting and dizziness. | NA | {
"id": 1576,
"name": "CYP3A4",
"pos": [
39,
6
]
} | {
"id": "C0042571",
"name": "Vertigo",
"pos": [
166,
9
]
} |
In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features. | NA | {
"id": 2011,
"name": "MARK2",
"pos": [
36,
23
]
} | {
"id": "C0085584",
"name": "Encephalopathies",
"pos": [
146,
16
]
} |
The levels of HIF-1alpha protein are increased in both gastric and pancreatic cancer cell lines under hypoxic conditions. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
14,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
102,
7
]
} |
Functions of the APP gene family in the nervous system: insights from mouse models. | NA | {
"id": 351,
"name": "APP",
"pos": [
17,
8
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
40,
14
]
} |
The results showed that the expression of Wnt5a (41/45), Wnt10b (37/45), and Wnt13 (35/45) were found in brain tumors, whereas Wnt1 (6/45) was shown to be less related. | NA | {
"id": 7480,
"name": "WNT10B",
"pos": [
57,
6
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
105,
12
]
} |
EGFR and other ErbB-family tyrosine kinases are overexpressed in many human tumors, and their aberrant expression and mutational activation is associated with the development, progression and aggressiveness of a number of malignancies. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
0,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
192,
14
]
} |
Cell proliferation, colony formation assays and tumor growth in nude mice were utilized to determine the TSPY effects on cell growth and tumorigenesis. | NA | {
"id": 7258,
"name": "TSPY1",
"pos": [
105,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
137,
13
]
} |
TNFalpha-stimulated translocation of NF-kappaB into the nucleus and NF-kappaB promoter activity were blocked by Bay11-7082, but not by U0126, SB202190, or SP600125. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
68,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
20,
13
]
} |
Patients with Asn656 allele of LEPR gene have a different response than wild-type patients, and Lys656Lys patients have a significant decrease in weight, BMI, fat mass, waist circumference, systolic blood pressure and leptin levels. | NA | {
"id": 3953,
"name": "LEPR",
"pos": [
31,
9
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
190,
23
]
} |
In conclusion, the KLOTHO gene G395A allele carrier state may be associated with CAD but not with coronary artery calcification in this Korean population. | NA | {
"id": 9365,
"name": "KL",
"pos": [
19,
11
]
} | {
"id": "C1611184",
"name": "Calcification of coronary artery",
"pos": [
98,
29
]
} |
Mice lacking CFTR show a defective receptor-mediated endocytosis, as evidenced by impaired uptake of (125)I-beta(2)-microglobulin, a decreased expression of the cubilin receptor in the kidney, and a significant excretion of cubilin and its low-molecular-weight ligands into the urine. | NA | {
"id": 8029,
"name": "CUBN",
"pos": [
224,
7
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
254,
6
]
} |
We conclude that M54T LQTS6 mutation can cause sinus bradycardia through effects on both hERG and HCN currents. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
98,
3
]
} | {
"id": "C1963175",
"name": "Sinus Bradycardia, CTCAE",
"pos": [
47,
17
]
} |
Most permanent cases (80-85%) result from alterations in the formation of the thyroid gland during embryogenesis (thyroid dysgenesis), and several were shown recently to be produced by mutations in genes responsible for the development of thyroid follicular cells (TITF1, TITF2, PAX8 and TSHR). | genomic_alterations | {
"id": 7080,
"name": "NKX2-1",
"pos": [
265,
5
]
} | {
"id": "C1563716",
"name": "Thyroid Dysgenesis",
"pos": [
114,
18
]
} |
We identified, by two-dimensional electrophoretic analysis and microsequencing, a protein of Chlamydia trachomatis elementary bodies which corresponds to the polypeptide (pgp3) encoded by open reading frame 3 (ORF3). | biomarker | {
"id": 136991,
"name": "ASZ1",
"pos": [
210,
4
]
} | {
"id": "C4290046",
"name": "trachomatis",
"pos": [
103,
11
]
} |
The 150 kDa oxygen-regulated protein (ORP150) is an inducible endoplasmic reticulum (ER) chaperone with cytoprotective properties in settings of cell stress, such as ischemia/reperfusion (I/R). | NA | {
"id": 10525,
"name": "HYOU1",
"pos": [
38,
6
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
166,
8
]
} |
Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
33,
28
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
78,
19
]
} |
We examined the relationship between cancer progression and mRNA levels of CD44 variant exon 6 (CD44v6) in specimens of colon cancer at different diagnostic stages from 31 patients using real time RT-PCR analysis. | genomic_alterations | {
"id": 960,
"name": "CD44",
"pos": [
75,
4
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
120,
12
]
} |
These results suggest that proapoptotic peptides and, in particular, DP2 can be clinically useful for treatment of synovial hyperplasia, as well as inflammation. | NA | {
"id": 324,
"name": "APC",
"pos": [
69,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
148,
12
]
} |
Indeed, patients with AD IL-17F deficiency or AR IL-17RA or ACT1 deficiency display CMC and, to a lesser extent, superficial staphylococcal diseases. | NA | {
"id": 112744,
"name": "IL17F",
"pos": [
25,
6
]
} | {
"id": "C0038160",
"name": "Staphylococcal Infections",
"pos": [
125,
23
]
} |
Measuring PDGFA, bFGF, and HIF1a expression may contribute to a better understanding of the prognosis of patients with pancreatic cancer and may even play a crucial role for the distribution of patients to multimodal therapeutic regimens. | biomarker | {
"id": 5154,
"name": "PDGFA",
"pos": [
10,
5
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
119,
17
]
} |
Similar experiments performed for the translocation partner gene AF4 revealed that SARs are spanning nearly the complete breakpoint cluster region of the AF4 gene. | NA | {
"id": 613,
"name": "BCR",
"pos": [
121,
25
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
38,
13
]
} |
Further analysis found a significant correlation of hypermethylated miR-129-2 with microsatellite instability and MLH1 methylation status (P < 0.001) and poor overall survival (P < 0.039) in patients. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
114,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
83,
26
]
} |
The possible association of vitamin D receptor gene FokI, BsmI, ApaI, and TaqI polymorphisms with polycystic ovary syndrome (PCOS) risk, and their influence on insulin resistance and serum levels of insulin in the women with PCOS was examined. | NA | {
"id": 7421,
"name": "VDR",
"pos": [
28,
18
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
160,
18
]
} |
The silent nature of this sequence variation is supported by its homozygosity in one AGAT deficient cousin and in one asymptomatic adult, both with normal GAMT activity. | NA | {
"id": 2593,
"name": "GAMT",
"pos": [
155,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
118,
12
]
} |
RUNX3 has an important role in glioblastoma (GBM) tumorigenesis because of its promoter hypermethylation. | NA | {
"id": 864,
"name": "RUNX3",
"pos": [
0,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
50,
13
]
} |
We also show that other DNA restriction fragment length polymorphism markers tightly linked with the inheritance of cystic fibrosis are deleted on der(7). | biomarker | {
"id": 7841,
"name": "MOGS",
"pos": [
147,
5
]
} | {
"id": "C0010674",
"name": "Cystic Fibrosis",
"pos": [
116,
15
]
} |
Lung cancer with the ALK rearrangement constitutes only a small fraction of patients with non-small cell lung cancer (NSCLC). | genomic_alterations | {
"id": 238,
"name": "ALK",
"pos": [
21,
3
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
0,
11
]
} |
The liver <sup>18</sup>F-FDG uptake tended to decrease in patients with hypoalbuminemia. | biomarker | {
"id": 23583,
"name": "SMUG1",
"pos": [
37,
3
]
} | {
"id": "C0239981",
"name": "Hypoalbuminemia",
"pos": [
84,
15
]
} |
Transcription of dbpA, a Y box binding protein, is positively regulated by E2F1: implications in hepatocarcinogenesis. | NA | {
"id": 8531,
"name": "YBX3",
"pos": [
17,
4
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
97,
20
]
} |
We previously demonstrated that advanced melanoma cells express high amounts of proopiomelanocortin (POMC) that correlate with tumor progression. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
101,
4
]
} | {
"id": "C4727838",
"name": "Advanced Melanoma",
"pos": [
32,
17
]
} |
Insulin gene variable number of tandem repeats (INS VNTR) genotype and metabolic syndrome in childhood obesity. | genomic_alterations | {
"id": 3630,
"name": "INS",
"pos": [
48,
3
]
} | {
"id": "C2362324",
"name": "Pediatric Obesity",
"pos": [
93,
17
]
} |
We re-sequenced TMX3 in 162 patients with anophthalmia or microphthalmia, and found two missense substitutions in unrelated patients: c.116G>A, predicting p.Arg39Gln, in a male with unilateral microphthalmia and retinal coloboma, and c.322G>A, predicting p.Asp108Asn, in a female with unilateral microphthalmia and severe micrognathia. | NA | {
"id": 54495,
"name": "TMX3",
"pos": [
16,
4
]
} | {
"id": "C3540764",
"name": "Coloboma of the Retina",
"pos": [
212,
16
]
} |
One subtype of acute lymphoblastoid leukemia (ALL) is characterized by a t(1;19) chromosomal translocation resulting in a fusion protein E2A-Pbx1 that promotes transformation and leukemogenesis. | NA | {
"id": 5087,
"name": "PBX1",
"pos": [
141,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
81,
25
]
} |
Ketorolac (10 mg/kg, intraperitoneally) significantly reduced expression of CINC-1, cyclooxygenase-2, selectin E, and intercellular adhesion molecule 1, lowered neutrophil influx, improved RV function (RV peak systolic pressure was 34 +/- 3 mm Hg; maximum rate of pressure development = 1288 +/- 146; maximum rate of pressure decrease = -611 +/- 92), and marginally reduced cardiac troponin I release (P < 0.07) compared with PE alone. | NA | {
"id": 3383,
"name": "ICAM1",
"pos": [
118,
33
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
210,
17
]
} |
These observations provide clues to ROD pathogenesis, as they indicate that the suppression of osteoblast differentiation and decreased active LOX protein associated with accumulation of AGEs in osteoblasts caused structural abnormalities of bone collagen fibrils and a severe mineralization disorder, leading to bone fragility. | NA | {
"id": 4015,
"name": "LOX",
"pos": [
143,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
225,
13
]
} |
All subjects' blood pressure (systolic blood pressure, SBP; diastolic blood pressure, DBP), biochemical values, plasma homocysteine, pyridoxal 5'-phosphate (PLP), serum folate, vitamin B12 concentrations, and methylenetetrafolate reductase (MTHFR) 677C-->T gene polymorphism were measured. | NA | {
"id": 6862,
"name": "TBXT",
"pos": [
255,
6
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
60,
24
]
} |
The occurrence of intracranial tumor in an asymptomatic stage can be avoided by routine computed tomography (CT) and magnetic resonance imaging (MRI) scan, and improved survival can be achieved by aggressive multimodality therapy. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
145,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
43,
12
]
} |
3D-FISH analysis indicated that the translocation-prone BCAS genes, which are located on chromosomes 1, 17, and 20, are in close physical proximity with IGFBP3 and each other in normal breast cells. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
3,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
36,
13
]
} |
Administration of MAT.Ang-1 after the onset of sepsis protects the microcirculation from endotoxemia-induced vascular dysfunction through reducing inflammation but without pro-angiogenic actions, thus representing a novel, potential pharmacotherapeutic agent for the treatment of sepsis. | NA | {
"id": 38,
"name": "ACAT1",
"pos": [
18,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
147,
12
]
} |
Here we investigate the MMR gene expression in a variety of sebaceous gland tumors, with or without associated visceral malignancy. | genomic_alterations | {
"id": 4360,
"name": "MRC1",
"pos": [
24,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
120,
10
]
} |
AI-2 was associated with tumor immunity in CRCs through tumor-associated macrophages and CD4/CD8 ratio in a TNFSF9-dependent manner. | biomarker | {
"id": 8744,
"name": "TNFSF9",
"pos": [
108,
6
]
} | {
"id": "C1519680",
"name": "Tumor Immunity",
"pos": [
25,
14
]
} |
Therefore, Bcl-X(L), a promising therapeutic candidate for ischemia and neurodegenerative diseases, is only of partial efficacy in preventing the direct neurotoxicity of pneumolysin. | biomarker | {
"id": 598,
"name": "BCL2L1",
"pos": [
11,
5
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
59,
8
]
} |
Conversely, pS6 levels were retained under hypoxia in REDD1 knock-down cells and in HNSCC cells lacking endogenous REDD1 expression. | NA | {
"id": 54541,
"name": "DDIT4",
"pos": [
115,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
43,
7
]
} |
The current study demonstrates that following airway exposure with an asthma-relevant allergen, activation of classical and alternative NF-κB pathways occurs within the airway epithelium and may coordinately contribute to allergic inflammation, AHR, and fibrotic airway remodeling. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
136,
5
]
} | {
"id": "C2717792",
"name": "Airway Remodeling",
"pos": [
263,
17
]
} |
SCG10 may represent a potential molecular target for anti-fibrosis therapies. | NA | {
"id": 11075,
"name": "STMN2",
"pos": [
0,
5
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
58,
8
]
} |
Inhalational challenge of atopic subjects with asthma with allergen-derived peptides produced a significant decrease in the numbers of RAMP1-positive epithelial cells in responders (P = .027) but not nonresponders. | NA | {
"id": 10267,
"name": "RAMP1",
"pos": [
135,
5
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
26,
6
]
} |
Metastasin leads to poor prognosis of hepatocellular carcinoma through partly inducing EMT. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
87,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
38,
24
]
} |
Individually caged male severe combined immunodeficient mice (n = 130) were randomly assigned to one of three diets (described as percent total calories): very high-fat/no-carbohydrate ketogenic diet (NCKD: 83% fat, 0% carbohydrate, 17% protein), low-fat/high-carbohydrate diet (LFD: 12% fat, 71% carbohydrate, 17% protein), or high-fat/moderate-carbohydrate diet (MCD: 40% fat, 43% carbohydrate, 17% protein). | biomarker | {
"id": 4582,
"name": "MUC1",
"pos": [
365,
3
]
} | {
"id": "C0021051",
"name": "Immunologic Deficiency Syndromes",
"pos": [
40,
15
]
} |
No mutations in hMSH2 and hMLH1 were found in two of the three individuals with RER + skin lesions. | NA | {
"id": 3550,
"name": "IK",
"pos": [
80,
3
]
} | {
"id": "C0037284",
"name": "Skin lesion",
"pos": [
86,
12
]
} |
Suppression of lung cancer progression by biocompatible glycerol triacrylate-spermine-mediated delivery of shAkt1. | therapeutic | {
"id": 207,
"name": "AKT1",
"pos": [
109,
4
]
} | {
"id": "C0024121",
"name": "Lung Neoplasms",
"pos": [
15,
11
]
} |
While analyzing the expression of 32 recurrent cancer chimeric RNAs in esophageal squamous cell carcinoma (ESCC) from patients and cancer cell lines, we identified GOLM1-MAK10, as a highly cancer-enriched chimeric RNA in ESCC. | NA | {
"id": 51280,
"name": "GOLM1",
"pos": [
164,
5
]
} | {
"id": "C0549379",
"name": "Recurrent Carcinoma",
"pos": [
37,
16
]
} |
In order to investigate the role of MBL gene polymorphisms in susceptibility to tuberculosis (TB) we genotyped 487 TB cases and 232 controls. | NA | {
"id": 4153,
"name": "MBL2",
"pos": [
36,
3
]
} | {
"id": "C0429908",
"name": "Susceptibility to tuberculosis",
"pos": [
62,
30
]
} |
Plasmid-based gene silencing approach was employed to study the association of HSP70-2 with various malignant properties of COLO205 and HCT116 cells in in vitro and with tumor progression in in vivo COLO205 human xenograft mice model. | biomarker | {
"id": 3303,
"name": "HSPA1A",
"pos": [
79,
7
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
170,
17
]
} |
As aneurysmal SAH patients who died soon after admission could not be included in the present study, our results only apply to a population of patients who survived the initial hours after the hemorrhage. | NA | {
"id": 6296,
"name": "ACSM3",
"pos": [
14,
3
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
193,
10
]
} |
Akt3-Mediated Protection Against Inflammatory Demyelinating Disease. | biomarker | {
"id": 10000,
"name": "AKT3",
"pos": [
0,
4
]
} | {
"id": "C0011303",
"name": "Demyelinating Diseases",
"pos": [
46,
21
]
} |
RT-PCR/SSCP (single strand conformation polymorphism) analysis of p27Kip1 cDNA indicated that there was no mutation resulting in amino-acid substitution in 10 feline leukemia and lymphoma cases. | genomic_alterations | {
"id": 1027,
"name": "CDKN1B",
"pos": [
66,
7
]
} | {
"id": "C1332977",
"name": "Childhood Leukemia",
"pos": [
166,
8
]
} |
miR-210 was analysed by quantitative PCR in i) 39 PC/PGLs, according to genotype (one SDHA, five SDHB, seven VHL, three NF1, seven RET, 15 sporadic, one unknown) and pathology (18 benign, eight atypical, 11 malignant, two unknown); ii) 18 GISTs, according to SDHB immunoreactivity (nine SDH-deficient and nine SDH-proficient) and iii) two novel SDHB-mutant neurosphere cell lines. | NA | {
"id": 25796,
"name": "PGLS",
"pos": [
53,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
139,
8
]
} |
Mechanism studies indicate the novel finding that MUC4/Y triggers malignancy-related positive feedback loops for concomitantly up-regulating the expression of survival factors to resist adverse microenvironment and increasing the expression of an array of cytokines and adhesion molecules to affect the tumor milieu. | NA | {
"id": 4585,
"name": "MUC4",
"pos": [
50,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
270,
8
]
} |
These data suggest that the ADH3 polymorphism modestly influences the response of some plasma hormones to alcohol consumption but is not independently associated with breast cancer risk and does not modify the association between alcohol and breast cancer risk. | NA | {
"id": 126,
"name": "ADH1C",
"pos": [
28,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
106,
19
]
} |
In family ANA, candidate gene analysis excluded linkage to loci associated with aneurysm formation, including fibrillin-1, fibrillin-2, and type III procollagen, and chromosome 3p24.2-p25. | NA | {
"id": 8851,
"name": "CDK5R1",
"pos": [
184,
3
]
} | {
"id": "C0002940",
"name": "Aneurysm",
"pos": [
80,
8
]
} |
We found that both stabilization of HIF-1α expression under nomoxia caused by pVHL deficiency and hypoxia treatment significantly reduced SOD2 expression, and shRNAs specifically against HIF-1α restored SOD2 expression in both circumstances. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
187,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
98,
7
]
} |
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