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We studied the effect of oral treatment with losartan (30 mg/kg), celecoxib (3 mg/kg), and their combination on the mean arterial blood pressure (MAP), plasma renin activity (PRA), and plasma prostaglandin E2 (PGE2) in male Sprague-Dawley rats with renovascular hypertension (RVH) induced by partial subdiaphragmatic aortic constriction. | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
175,
3
]
} | {
"id": "C0020545",
"name": "Hypertension, Renovascular",
"pos": [
249,
25
]
} |
The presence of the TM6SF2 c.499A allele in the donor (p=0.014), the PNPLA3 c.444G allele in the donor (p<0.001), posttransplant BMI (p<0.001) and serum triglycerides (p=0.047) independently predicted increased liver fat content on multivariable analysis whereas noncirrhotic liver disease as an indication for liver transplantation was associated with lower risk of steatosis (p=0.003). | genomic_alterations | {
"id": 53345,
"name": "TM6SF2",
"pos": [
20,
6
]
} | {
"id": "C0023895",
"name": "Liver diseases",
"pos": [
282,
13
]
} |
Here we report a case of chronic myelomonocytic leukemia (CMML) with a 46,XY,t(11;19)(q23;p13.1) karyotype that transformed to acute myeloid leukemia (AML) without showing any karyotypic evolution. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
90,
3
]
} | {
"id": "C0023480",
"name": "Leukemia, Myelomonocytic, Chronic",
"pos": [
25,
31
]
} |
We have examined expression of the smg p25A (a ras p21-like GTP-binding protein) gene in neural crest-derived tumor cell lines and neuroblastoma tissues. | NA | {
"id": 23560,
"name": "GTPBP4",
"pos": [
60,
19
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
131,
13
]
} |
The aim of this study was to determine whether DOX activates peroxynitrite and ADAM 10 and thus ADAM and matrix metalloproteinase (MMP) induce cardiac remodeling in DOX-induced cardiomyopathy. | biomarker | {
"id": 102,
"name": "ADAM10",
"pos": [
79,
7
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
177,
14
]
} |
Evidence for association between genetic variants of p75 neurotrophin receptor (p75NTR) gene and antidepressant treatment response in Chinese major depressive disorder. | genomic_alterations | {
"id": 3560,
"name": "IL2RB",
"pos": [
53,
3
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
142,
25
]
} |
Recombinant adenovirus vectors (RAds) expressing truncated, secreted forms of human Tie2 (RAd-sTie2) and vascular endothelial growth factor receptor 1 (RAd-sVEGFR1) or a truncated, dominant-negative fibroblast growth factor receptor 1 (RAdDN-FGFR1) were used. | NA | {
"id": 2321,
"name": "FLT1",
"pos": [
105,
45
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
12,
10
]
} |
BCL6 rearrangement also predicted significantly shorter overall survival (P = .04), especially for the non-GC phenotype (P = .03). | genomic_alterations | {
"id": 604,
"name": "BCL6",
"pos": [
0,
4
]
} | {
"id": "C0018081",
"name": "Gonorrhea",
"pos": [
107,
2
]
} |
Seventy-eight human melanoma samples were analyzed for IDH1(R132) and IDH2(R172) mutation status. | genomic_alterations | {
"id": 3418,
"name": "IDH2",
"pos": [
70,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
20,
8
]
} |
To determine the signal transduction pathway involving tumor necrosis factor's action in myelination and demyelination, we have cloned and analyzed cis-elements on promoters of the human and mouse MBP genes. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
55,
23
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
105,
13
]
} |
Human colon adenocarcinoma tissues were collected to test COUP-TFII expression. | NA | {
"id": 7026,
"name": "NR2F2",
"pos": [
58,
9
]
} | {
"id": "C0338106",
"name": "Adenocarcinoma of colon",
"pos": [
6,
20
]
} |
In this case report, an additional patient with brain-lung-thyroid syndrome is reported, carrying a novel heterozygous mutation, c.533G>C (p.R178P), in the homeobox of NKX2-1. | genomic_alterations | {
"id": 7080,
"name": "NKX2-1",
"pos": [
171,
6
]
} | {
"id": "C1970269",
"name": "Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",
"pos": [
48,
27
]
} |
We identified a novel human long fatty acyl CoA synthetase 2 gene, ACS2, as a new ETV6 fusion partner gene in a recurrent t(5;12)(q31;p13) translocation in a patient with refractory anemia with excess blasts (RAEB) with basophilia, a patient with acute myelogenous leukemia (AML) with eosinophilia, and a patient with acute eosinophilic leukemia (AEL). | genomic_alterations | {
"id": 51703,
"name": "ACSL5",
"pos": [
67,
4
]
} | {
"id": "C0279648",
"name": "Childhood Acute Eosinophilic Leukemia",
"pos": [
318,
27
]
} |
The data on first-degree relatives suggest that when the Gts gene is expressed in this form, in two thirds of the cases tics are also present and in one third they are not. | NA | {
"id": 2973,
"name": "GTS",
"pos": [
57,
8
]
} | {
"id": "C0040188",
"name": "Tic disorder",
"pos": [
120,
4
]
} |
TRAIL-induced translocation of Bax from cytosol to mitochondria, release of cytochrome c from mitochondria and activation of caspase-9 were all inhibited by PKC activation. | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
0,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
14,
13
]
} |
There was a higher prevalence of familial cases in MUT+ patients (P =.09), >10 lower gastrointestinal polyps (P =.06), and frequency of family history of gastrointestinal cancer compared with MUT- patients (P =.01). | NA | {
"id": 4594,
"name": "MMUT",
"pos": [
192,
3
]
} | {
"id": "C0685938",
"name": "Malignant neoplasm of gastrointestinal tract",
"pos": [
154,
23
]
} |
Periostin actively contributes to tissue injury, fibrosis, atherosclerosis, and inflammatory diseases; however, its role in hepatic fibrosis is unclear. | NA | {
"id": 10631,
"name": "POSTN",
"pos": [
0,
9
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
49,
8
]
} |
Patients with ADCK4 mutations showed a largely renal-limited phenotype, with three subjects exhibiting occasional seizures, one subject exhibiting mild mental retardation, and one subject exhibiting retinitis pigmentosa. | NA | {
"id": 79934,
"name": "COQ8B",
"pos": [
14,
5
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
114,
8
]
} |
The expression of gp96 strongly correlated with inflammation and synovial lining thickness. | NA | {
"id": 7184,
"name": "HSP90B1",
"pos": [
18,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
48,
12
]
} |
CCT3 acts upstream of YAP and TFCP2 as a potential target and tumour biomarker in liver cancer. | biomarker | {
"id": 7024,
"name": "TFCP2",
"pos": [
30,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
62,
6
]
} |
Inflammatory cells and epithelial cells of the basal layer exhibited reactions for EP4 in oesophagitis. | NA | {
"id": 5734,
"name": "PTGER4",
"pos": [
83,
3
]
} | {
"id": "C0014868",
"name": "Esophagitis",
"pos": [
90,
12
]
} |
Further experiments indicated that mild acidosis activated the transcription factors NF-kappaB and AP-1 and that the cooperation of these two factors appeared to be essential to the transactivation of the IL-8 gene. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
205,
4
]
} | {
"id": "C0001122",
"name": "Acidosis",
"pos": [
40,
8
]
} |
Gene therapy of coronary artery disease with phvegf165--early outcome. | therapeutic | {
"id": 7422,
"name": "VEGFA",
"pos": [
47,
4
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
16,
23
]
} |
Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. | genomic_alterations | {
"id": 2006,
"name": "ELN",
"pos": [
109,
7
]
} | {
"id": "C0406549",
"name": "Cutis laxa, acquired type",
"pos": [
46,
19
]
} |
Our purpose was to examine whether staging of head and neck squamous cell carcinoma (HNSCC) by upfront <sup>18</sup>F-FDG PET/CT (i.e., on the day of biopsy and before the biopsy) discriminates survival better than the traditional imaging strategies based on chest x-ray plus head and neck MRI (CXR/MRI) or chest CT plus head and neck MRI (CCT/MRI). | biomarker | {
"id": 907,
"name": "CCT",
"pos": [
352,
3
]
} | {
"id": "C1168401",
"name": "Squamous cell carcinoma of the head and neck",
"pos": [
46,
37
]
} |
We report here the fusion between the NUP98 gene and another homeobox gene PMX1 in a case of human AML with a t(1;11)(q23;p15) translocation. | genomic_alterations | {
"id": 5396,
"name": "PRRX1",
"pos": [
75,
4
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
99,
3
]
} |
Dual pathology was suspected, and muscle MRI showed the typical pattern for RYR1-related myopathy. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
41,
3
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
89,
8
]
} |
There is substantial evidence that human TRIB2 promotes survival and drug resistance in solid tumors and blood cancers and therefore is of interest as a therapeutic target. | biomarker | {
"id": 28951,
"name": "TRIB2",
"pos": [
41,
5
]
} | {
"id": "C0376545",
"name": "Hematologic Neoplasms",
"pos": [
105,
13
]
} |
IMPG2-associated RP is frequently accompanied by macular involvement, ranging from mild pigment alterations to profound chorioretinal atrophy. | biomarker | {
"id": 50939,
"name": "IMPG2",
"pos": [
0,
5
]
} | {
"id": "C0549567",
"name": "Pigmentation Disorders",
"pos": [
88,
19
]
} |
We therefore analyzed point mutations of p16 gene, a newly characterized tumor suppressor gene, and compared the results with alterations of p53 gene in 28 primary lung adenocarcinomas in non-smoking Japanese females. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
141,
8
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
192,
7
]
} |
Treatment of human metastatic transitional cell carcinoma of the bladder in a murine model with the anti-vascular endothelial growth factor receptor monoclonal antibody DC101 and paclitaxel. | NA | {
"id": 3791,
"name": "KDR",
"pos": [
105,
43
]
} | {
"id": "C3160869",
"name": "Transitional cell carcinoma metastatic",
"pos": [
19,
38
]
} |
Mutations in SDH subunits have been implicated in the formation of familial paragangliomas (PGLs) and/or pheochromocytomas (PHEOs) and in Carney-Stratakis syndrome. | NA | {
"id": 25796,
"name": "PGLS",
"pos": [
92,
4
]
} | {
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
76,
14
]
} |
Myocardin was upregulated in rat primary HSC during in vitro activation and in the fibrotic liver of a dimethylnitrosamine-induced fibrosis rat model. | NA | {
"id": 93649,
"name": "MYOCD",
"pos": [
0,
9
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
131,
8
]
} |
Alterations of p14(ARF), p16(INKa), and p53 in primary liver angiosarcoma from 19 patients were analyzed by methylation-specific polymerase chain reaction (MSP), restriction enzyme-related polymerase chain reaction (RE-PCR), microsatellite analysis, and DNA sequencing. | NA | {
"id": 89782,
"name": "LMLN",
"pos": [
156,
3
]
} | {
"id": "C0345907",
"name": "Angiosarcoma of liver",
"pos": [
55,
18
]
} |
Additionally, deletion of the 5q11-q31 region was noted and was associated with translocation of chromosome 5 material to chromosomes 16 and a dic(5;17)(q11;p11) chromosome (previously described as mar 3). | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
157,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
80,
13
]
} |
The hypercalciuria and hypermagnesuria that accompany aldosteronism contribute to a fall in plasma ionized extracellular Ca2+ and Mg2+ concentrations ([Ca2+]o and [Mg2+]o). | NA | {
"id": 760,
"name": "CA2",
"pos": [
152,
3
]
} | {
"id": "C0020428",
"name": "Hyperaldosteronism",
"pos": [
54,
13
]
} |
The loss of pS2 expression in metaplasia and cancer supports a role for this protein in gastric tumor suppression. | NA | {
"id": 5664,
"name": "PSEN2",
"pos": [
12,
3
]
} | {
"id": "C0025568",
"name": "Metaplasia",
"pos": [
30,
10
]
} |
Global gene expression analyses of tetraploid endothelial cells revealed a dysfunctional phenotype characterized by a cell cycle arrest profile (decreased CCNE2/A2, RBL1, BUB1B; increased CDKN1A) and increased expression of genes involved in inflammation (IL32, TNFRSF21/10C, PTGS1) and extracellular matrix remodeling (COL5A1, FN1, MMP10/14). | NA | {
"id": 27242,
"name": "TNFRSF21",
"pos": [
262,
8
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
242,
12
]
} |
We exposed wildtype (WT) and CC16(-/-)mice to CS or air for up to 6 months, and measured airway CC16 expression, pulmonary inflammation, alveolar septal cell apoptosis, airspace enlargement, airway mucin 5AC (MUC5AC) expression, small airway remodelling and pulmonary function. | NA | {
"id": 7356,
"name": "SCGB1A1",
"pos": [
96,
4
]
} | {
"id": "C3160731",
"name": "Pulmonary function (finding)",
"pos": [
258,
18
]
} |
Exogenous application of CGRP significantly inhibited hypoxia-induced proliferation of PASMCs concomitantly with increased p27 expression and decreased expression of phosphorylated ERK1/2, c-fos and c-myc. | NA | {
"id": 796,
"name": "CALCA",
"pos": [
25,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
54,
7
]
} |
Regarding depression of epigenetic effects to enhance HMDB-induced CEBPD expression, the combination of HMDB and 5-Aza-2'-deoxycytidine (5-AzadC) could enhance the death of liver cancer cells and reduce the tumor formation of Huh7 xenograft mice. | NA | {
"id": 1052,
"name": "CEBPD",
"pos": [
67,
5
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
10,
10
]
} |
The potential transforming factors include: the allelic loss of the MEN-1 suppressor gene in the genetically predisposed MEN-1 patients, an alteration that may induce ECL cell tumors even in the absence of hypergastrinemia; the still unknown factor(s) associated with atrophic corporal gastritis; agents whose role in the induction of human ECL cell tumors is still unclarified, such as basic Fibroblast Growth Factor, human Chorionic Gonadotropin-alpha and Transforming Growth Factor-alpha; and agents having a favoring role on the ECL exposure to mitogens such as BCL-2. | NA | {
"id": 6366,
"name": "CCL21",
"pos": [
533,
3
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
268,
8
]
} |
Identification of novel genetic polymorphisms in the BDNF gene and assessment of their frequencies and associations with MDD or antidepressant response. | genomic_alterations | {
"id": 627,
"name": "BDNF",
"pos": [
53,
4
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
121,
3
]
} |
Variants of selected polymorphisms: -1260/ C>A in CYP27B1, Lys198Asn in EDN1, and Ile105Val in GSTP1, were examined to determine if they confer susceptibility to sarcoidosis, based on an analysis of 180 Slovenian patients in comparison with 283 healthy controls. | genomic_alterations | {
"id": 1594,
"name": "CYP27B1",
"pos": [
53,
7
]
} | {
"id": "C0036202",
"name": "Sarcoidosis",
"pos": [
165,
11
]
} |
In this explorative study, routine molecular analyses were used to detect prognostic subgroups: p53 immunohistochemistry, microsatellite instability and POLE proofreading mutation. | NA | {
"id": 5426,
"name": "POLE",
"pos": [
153,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
122,
26
]
} |
However, little is known about the contribution of HDAC8 to the tumorigenesis of gastric cancer (GC). | NA | {
"id": 55869,
"name": "HDAC8",
"pos": [
51,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
64,
13
]
} |
Systemic heterozygous knockin of the Fbxw7 <sup>R468C</sup> mutation resulted in perinatal lethality due to defects in lung development, and occasionally caused an eyes-open at birth phenotype and cleft palate. | genomic_alterations | {
"id": 55294,
"name": "FBXW7",
"pos": [
37,
5
]
} | {
"id": "C0008925",
"name": "Cleft Palate",
"pos": [
209,
12
]
} |
When body mass index and waist circumference were further adjusted, the association of MC4R with type 2 diabetes remained significant (P = 1.81×10(-2)) and that of GNPDA2 was attenuated (P = 1.26×10(-1)), suggesting the effect of the locus including GNPDA2 on type 2 diabetes may be mediated through obesity. | NA | {
"id": 132789,
"name": "GNPDA2",
"pos": [
250,
6
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
5,
15
]
} |
Since scale up is relevant to its potential use in the treatment of dry eye, we explored various mutagenic strategies to alter the stability, solubility, and translational efficiency of nascent lacritin, and discovered 3' clustering of rare human codons. | NA | {
"id": 90070,
"name": "LACRT",
"pos": [
195,
8
]
} | {
"id": "C0013238",
"name": "Dry Eye Syndromes",
"pos": [
69,
7
]
} |
Intriguingly, residues in Bag-1L important for its interaction with the AR AF-1 are within a potentially druggable pocket, implicating Bag-1L as a potential therapeutic target in PCa. | genomic_alterations | {
"id": 367,
"name": "AR",
"pos": [
72,
2
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
179,
3
]
} |
It was studied the genetic polymorhisms of GP IIb/IIIa Leu33Pro, prothrombin gene G20210A, ACE I/D, fibrinogen gene-455 G/A, Leiden mutation and MTHFR C677T alleles or genotypes in blood samples of 433 ischaemic stroke patients and 173 controls by PCR. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
91,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
100,
10
]
} |
Comparing DJ-1 expression in dopamine neurons on hemi-sections from controls and patients we could not detect any difference between 14 controls, 8 idiopathic Parkinson and 5 schizophrenia cases. | NA | {
"id": 11315,
"name": "PARK7",
"pos": [
10,
4
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
175,
13
]
} |
Heteroduplex single-strand conformation polymorphism banding patterns of the ITGB2 gene showed variations in 22 HSCR patients (66%), 13 of whom had severe episodes of HAEC, and 6 others had milder symptoms. | genomic_alterations | {
"id": 3689,
"name": "ITGB2",
"pos": [
77,
5
]
} | {
"id": "C0019569",
"name": "Hirschsprung Disease",
"pos": [
112,
4
]
} |
These results provide the convincing evidence for the first time that up-regulation of miRNA-203 contributes to the malignancy of hypopharyngeal squamous cell carcinoma, possibly through down-regulating TP63 and B3GNT5. | NA | {
"id": 84002,
"name": "B3GNT5",
"pos": [
212,
6
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
116,
10
]
} |
Twenty mongrel dogs were divided randomly into 4 groups to serve as control, SAH, SAH+adenovirus ECSOD (AdECSOD), and SAH+no transgene (AdBglII) groups, respectively. | NA | {
"id": 6296,
"name": "ACSM3",
"pos": [
118,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
86,
10
]
} |
Deletion of GDNF expression by perineurial macrophages, or inhibition of RET with shRNA or a small-molecule inhibitor, reduced perineurial invasion in KPC mice with PDAC. | biomarker | {
"id": 5979,
"name": "RET",
"pos": [
73,
3
]
} | {
"id": "C1832661",
"name": "ANOPHTHALMIA AND PULMONARY HYPOPLASIA",
"pos": [
165,
4
]
} |
These data suggest that TNFR2 has a protective role in TNF-α-induced bone resorption. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
55,
5
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
69,
15
]
} |
Among the many proteins involved in the regulation of lipolysis, hormone-sensitive lipase (HSL) represents a prime candidate for genetic variants contributing to the biological variation of insulin sensitivity of lipolysis. | NA | {
"id": 3991,
"name": "LIPE",
"pos": [
91,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
190,
19
]
} |
Dabigatran dose was 110 and 75 mg BID in patients with normal or impaired renal function (glomerular filtration rate >80 mL/min or between 80 and 30 mL/min, respectively). | biomarker | {
"id": 637,
"name": "BID",
"pos": [
34,
3
]
} | {
"id": "C1565489",
"name": "Renal Insufficiency",
"pos": [
65,
23
]
} |
We found that CsA reduced proteinuria and repaired FP effacement of PAN-induced nephropathy, restored expression of nephrin, synaptopodin, cofilin-1, pho-cofilin-1 both in vivo and in vitro. | NA | {
"id": 11346,
"name": "SYNPO",
"pos": [
125,
12
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
26,
11
]
} |
Furthermore, the changes of serum VEGF concentrations following body weight reduction therapy were analyzed in eight subjects recruited from the original pool of subjects. | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
34,
4
]
} | {
"id": "C1262477",
"name": "Weight decreased",
"pos": [
69,
16
]
} |
beta-Catenin expression pattern, beta-catenin gene mutations, and microsatellite instability in endometrioid ovarian carcinomas and synchronous endometrial carcinomas. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
33,
12
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
66,
26
]
} |
The tumor suppressor gene p16 is negatively correlated with the occurrence and degradation of hemangioma. | biomarker | {
"id": 115482713,
"name": "H3P10",
"pos": [
26,
3
]
} | {
"id": "C0018916",
"name": "Hemangioma",
"pos": [
94,
10
]
} |
Real-time PCR for HER2 and MYC products was also performed on 184 plasma samples from 81 gastric cancers, eight gastric adenomas, 63 gastritis patients, and 32 healthy individuals. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
18,
4
]
} | {
"id": "C0017152",
"name": "Gastritis",
"pos": [
133,
9
]
} |
Complete 1p/19q co-deletion, MGMT promoter methylation and/or IDH1 mutation generally signified a better prognosis for patients with a diffuse glioma including glioblastoma. | genomic_alterations | {
"id": 4255,
"name": "MGMT",
"pos": [
29,
4
]
} | {
"id": "C4289690",
"name": "Diffuse Glioma",
"pos": [
135,
14
]
} |
The expressions of Cdx2, MUC2, and intracellular signaling molecules related to Notch signaling (Notch1, Hes1, and ATOH1) were examined using real-time polymerase chain reaction (PCR) and immunohistochemical staining with biopsy specimens obtained from esophageal intestinal metaplasia (IM) with goblet cells (IM⁺) and columnar epithelium not accompanied by goblet cells (IM⁻). | NA | {
"id": 8209,
"name": "GATD3A",
"pos": [
105,
4
]
} | {
"id": "C0334037",
"name": "Intestinal metaplasia",
"pos": [
264,
21
]
} |
Using a regression model, we show that MYO1A mutations are likely to confer a growth advantage to gastric, but not endometrial tumors. | NA | {
"id": 4640,
"name": "MYO1A",
"pos": [
39,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
8,
10
]
} |
It was demonstrated that in these tumors BRAF V600E mutated and that CDKN2A/B MTAP co-deletions may be used for stratifying patients for a stricter surveillance. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
41,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
34,
6
]
} |
However, assessment of the combined influence of the two polymorphisms demonstrated a significant effect (chi2=8.09, degrees of freedom=3, P=0.04), whereby the combination of the MnSOD -9val and DRD3 9ser alleles was associated with tardive dyskinesia. | genomic_alterations | {
"id": 6648,
"name": "SOD2",
"pos": [
179,
5
]
} | {
"id": "C0013384",
"name": "Dyskinetic syndrome",
"pos": [
241,
10
]
} |
The enhanced proteinuria, score of mesangial proliferation, glomerular PCNA positive cells, activities of phosphorylated PI3-K, Akt1 and STAT3, and reduced p27(kip1) expression were found on day 4 after nephritis induction. | NA | {
"id": 6774,
"name": "STAT3",
"pos": [
137,
5
]
} | {
"id": "C0027697",
"name": "Nephritis",
"pos": [
203,
9
]
} |
In Creutzfeldt-Jakob disease (CJD), the type (type 1 or 2) of abnormal isoform of the prion protein (PrP(Sc)) in the brain and the genotype at codon 129 of the PrP gene are major determinants of clinicopathological phenotype. | genomic_alterations | {
"id": 79092,
"name": "CARD14",
"pos": [
160,
3
]
} | {
"id": "C0022336",
"name": "Creutzfeldt-Jakob disease",
"pos": [
3,
25
]
} |
Increased expression of L-selectin ligands may be involved in the implantation process in tubal pregnancy. | NA | {
"id": 6402,
"name": "SELL",
"pos": [
24,
10
]
} | {
"id": "C0032994",
"name": "Pregnancy, Tubal",
"pos": [
90,
15
]
} |
The significantly decreased risk of ESCC associated with the TERT-CLPTM1L rs401681 C>T polymorphism was associated with male sex, young age (<63 years in our study) and alcohol consumption. | NA | {
"id": 7015,
"name": "TERT",
"pos": [
61,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
169,
19
]
} |
In addition, congenital hypothyroidism is associated with downregulation of astrocyte glutamate transporters (GLAST and GLT-1) leading to decreased glutamate uptake and subsequent influx of Ca(2+) through N-methyl-D-aspartate (NMDA) receptors. | NA | {
"id": 6507,
"name": "SLC1A3",
"pos": [
110,
5
]
} | {
"id": "C0010308",
"name": "Congenital Hypothyroidism",
"pos": [
13,
25
]
} |
Phosphorylation of the actin nucleation-promoting factor and actin-stabilizing protein cortactin downstream of the epidermal growth factor receptor-Src-Arg kinase cascade is known to be a critical trigger for invadopodium maturation and subsequent cell invasion in breast cancer cells. | biomarker | {
"id": 2017,
"name": "CTTN",
"pos": [
87,
9
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
253,
8
]
} |
Simvastatin Attenuates Neuropathic Pain by Inhibiting the RhoA/LIMK/Cofilin Pathway. | therapeutic | {
"id": 1072,
"name": "CFL1",
"pos": [
68,
9
]
} | {
"id": "C0027796",
"name": "Neuralgia",
"pos": [
23,
16
]
} |
FOXP1 is upregulated as a result of gene fusion or amplification in DLBCL and MALT lymphoma and also repression of miRNAs, such as miR-1, miR-34a and miR-504. | biomarker | {
"id": 79187,
"name": "FSD1",
"pos": [
131,
5
]
} | {
"id": "C0079744",
"name": "Diffuse Large B-Cell Lymphoma",
"pos": [
68,
5
]
} |
Expression of costimulatory molecules (CD80, CD86, CD28, CD152), accessory molecules (TCR alphabeta, TCR gammadelta) and T cell lineage molecules (CD4+, CD8+) in PBMC of leprosy patients using Mycobacterium leprae antigen (MLCWA) with murabutide and T cell peptide of Trat protein. | NA | {
"id": 940,
"name": "CD28",
"pos": [
51,
4
]
} | {
"id": "C0023343",
"name": "Leprosy",
"pos": [
170,
7
]
} |
Hsp60 induction by NFkB-p65 and its release by epithelial cells after oxidative stress can have a role in maintaining inflammation, e.g., by stimulating neutrophils activity. | NA | {
"id": 64689,
"name": "GORASP1",
"pos": [
24,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
118,
12
]
} |
This was followed by late disease events, including subchondral sclerosis and osteophyte formation, as demonstrated by the upregulation of the osteoanabolic markers runx2 and osterix, toward week-4 to 6 post-surgery. | NA | {
"id": 121340,
"name": "SP7",
"pos": [
175,
7
]
} | {
"id": "C0036429",
"name": "Sclerosis",
"pos": [
64,
9
]
} |
Mutations in the type XI collagen alpha-1 chain gene (COL11A1) cause a change in protein structure that alters its interactions with collagens II and V, resulting in abnormalities in cartilage and ocular vitreous. | NA | {
"id": 1301,
"name": "COL11A1",
"pos": [
54,
7
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
166,
13
]
} |
CITED2 controls the hypoxic signaling by snatching p300 from the two distinct activation domains of HIF-1α. | NA | {
"id": 2033,
"name": "EP300",
"pos": [
51,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
20,
7
]
} |
Role of epoxide hydrolase, NAD(P)H:quinone oxidoreductase, cytochrome P450 2E1 or alcohol dehydrogenase genotypes in susceptibility to colorectal cancer. | genomic_alterations | {
"id": 10327,
"name": "AKR1A1",
"pos": [
82,
21
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
135,
17
]
} |
Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease? | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
14,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
76,
17
]
} |
In Caucasian populations of Northern European descent, the DR15 haplotype (DRB1*1501-DQA1*0102-DQB1*0602) has been hypothesized to be the primary HLA genetic susceptibility factor for MS. | genomic_alterations | {
"id": 129831,
"name": "RBM45",
"pos": [
75,
4
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
184,
2
]
} |
In an independent non-FGFR2 translocation patient, exome and transcriptome analysis revealed an allele specific somatic nonsense mutation (E384X) in ERRFI1, a direct negative regulator of EGFR activation. | NA | {
"id": 2263,
"name": "FGFR2",
"pos": [
22,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
28,
13
]
} |
Pulmonary hypertension was induced by hypoxia in rats, and capsaicin (50 mg/kg, s.c.) was used to deplete endogenous CGRP. | NA | {
"id": 796,
"name": "CALCA",
"pos": [
117,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
38,
7
]
} |
The purpose of this study was to analyze the pattern and temporal concordance of cocaine-induced changes in ACTH, cortisol, dihydroepiandrosterone (DHEA), epinephrine, heart rate and subjective reports of euphoria. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
108,
4
]
} | {
"id": "C0018810",
"name": "heart rate",
"pos": [
168,
10
]
} |
Biomarkers: mean beta-amyloid 1-42: 266 pg/ml, median tau: 491 pg/ml, 14-3-3 positive: 31%. | NA | {
"id": 10971,
"name": "YWHAQ",
"pos": [
70,
6
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
22,
7
]
} |
MS-LAMP was used for the highly specific detection of hypermethylated CpGs in the promoters of the CDKN2A [cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)], GATA5 (GATA binding protein 5), and DAPK1 (death-associated protein kinase 1) genes. | NA | {
"id": 1612,
"name": "DAPK1",
"pos": [
220,
33
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
145,
8
]
} |
We report on a unique patient with tetrasomy 15q with complex cardiovascular malformation (CVM) involving progressive diffuse pulmonary vein stenosis (PVS). | NA | {
"id": 5817,
"name": "PVR",
"pos": [
151,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
77,
12
]
} |
Human viral infections such as HIV and EBV typically evoke a strong and diverse CD8(+) T cell response. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
80,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
6,
16
]
} |
This effect was restricted to children who experienced malaria episodes during the observation period suggesting that the beneficial effect of the beta-globin HbS variant on the incidence of stunting is closely linked to its protection from mild malaria episodes. | NA | {
"id": 3043,
"name": "HBB",
"pos": [
147,
11
]
} | {
"id": "C0018273",
"name": "Growth Disorders",
"pos": [
191,
8
]
} |
We determined that S-sulfonation stabilized TTR tetramer stability by a factor of 7, whereas S-cysteinylation enhanced dissociation by 2-fold with respect to the unmodified form. | NA | {
"id": 7276,
"name": "TTR",
"pos": [
44,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
119,
12
]
} |
FHIT abnormalities were investigated in some skin tumors. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
0,
4
]
} | {
"id": "C0037286",
"name": "Skin Neoplasms",
"pos": [
45,
11
]
} |
In conclusion, PPARgamma may be important to maintain homeostasis in the intrahepatic biliary epithelium, and its reduction in the bile ducts of PBC liver may be associated with the Th1-predominant milieu and with the development of chronic cholangitis in PBC. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
182,
3
]
} | {
"id": "C0267918",
"name": "Chronic cholangitis",
"pos": [
233,
19
]
} |
The role of signal transducer and activator of transcription 3 in Rift Valley fever virus infection. | biomarker | {
"id": 6774,
"name": "STAT3",
"pos": [
12,
50
]
} | {
"id": "C0035613",
"name": "Rift Valley Fever",
"pos": [
66,
33
]
} |
We examined the impact of the PC-1 K121Q variant on the rate of decline of the glomerular filtration rate (GFR) by creatinine clearance derived from the Cockroft-Gault formula in 77 type 1 diabetic patients with albuminuria who were followed for an average of 6.5 years (range 2.5-15). | NA | {
"id": 5167,
"name": "ENPP1",
"pos": [
30,
4
]
} | {
"id": "C0001925",
"name": "Albuminuria",
"pos": [
212,
11
]
} |
We hypothesized that the expression level of miR-29 is associated to TRG methylation status and may have prognostic utility in melanoma. | NA | {
"id": 6965,
"name": "TRG",
"pos": [
69,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
127,
8
]
} |
Overexpression of AGGF1 significantly repressed the expression of pro-inflammatory molecules such as E-Selectin, ICAM-1, and IL-8 and the adhesion of monocytes onto ECs activated by TNF-α. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
182,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
138,
8
]
} |
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