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|---|---|---|---|
Reversal of the International Normalized Ratio with recombinant activated factor VII in central nervous system bleeding during warfarin thromboprophylaxis: clinical and biochemical aspects. | therapeutic | {
"id": 2155,
"name": "F7",
"pos": [
74,
10
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
111,
8
]
} |
Compared to wild-type, fibres of Actn3 KO mice showed: (i) an increased rate of decay of the twitch transient; (ii) a fourfold increase in the rate of SR Ca2+ leak; (iii) a threefold increase in the rate of SR Ca2+ pumping; and (iv) enhanced maintenance of tetanic Ca2+ during fatigue. | biomarker | {
"id": 89,
"name": "ACTN3",
"pos": [
33,
5
]
} | {
"id": "C0015672",
"name": "Fatigue",
"pos": [
277,
7
]
} |
One SNP (rs9646629) in the TNFRSF11A showed significant association with diastolic blood pressure (P=0.031). | NA | {
"id": 8792,
"name": "TNFRSF11A",
"pos": [
27,
9
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
73,
24
]
} |
POSTN/TGFBI-associated stromal signature predicts poor prognosis in serous epithelial ovarian cancer. | biomarker | {
"id": 10631,
"name": "POSTN",
"pos": [
0,
5
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
75,
25
]
} |
ALK (anaplastic lymphoma kinase) is a tyrosine kinase receptor, expressed as part of the chimeric NPM-ALK protein, in anaplastic large cell lymphomas (ALCLs) exhibiting the t(2;5)(p23;q35) translocation. | NA | {
"id": 4914,
"name": "NTRK1",
"pos": [
38,
24
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
189,
13
]
} |
Human papillomavirus 16 oncoprotein regulates the translocation of β-catenin via the activation of epidermal growth factor receptor. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
67,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
50,
13
]
} |
Here, we evaluated the immunobiology of CD137 in human cancer and the utility of a CD137-positive separation methodology for the identification and enrichment of fresh tumor-reactive tumor-infiltrating lymphocytes (TIL) or tumor-associated lymphocytes (TAL) from ascites for use in adoptive immunotherapy. | NA | {
"id": 7096,
"name": "TLR1",
"pos": [
215,
3
]
} | {
"id": "C0003962",
"name": "Ascites",
"pos": [
263,
7
]
} |
To the best of our knowledge, we present here, for the first time, morphological data obtained in two sural nerve biopsies pointing to a hypomyelination-dysmyelination process in a family harboring the Pro132Leu mutation in the MPZ gene. | NA | {
"id": 4359,
"name": "MPZ",
"pos": [
228,
8
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
153,
14
]
} |
We report the identification of a novel Cx26 point mutation (439 G-->A) linked to familial, autosomal recessive, sensorineural hearing loss. | genomic_alterations | {
"id": 2706,
"name": "GJB2",
"pos": [
40,
4
]
} | {
"id": "C1611743",
"name": "Familial (FPAH)",
"pos": [
85,
8
]
} |
Although AGM stimulated neither the growth nor migration of endothelial cells, it supported efficient adhesion of endothelial cells. | NA | {
"id": 3490,
"name": "IGFBP7",
"pos": [
9,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
102,
8
]
} |
We analyzed the genotypes frequency of APOA1 (rs5069, rs670), CLU (rs11136000, rs1532278, rs7012010, rs9331888) and APOE (rs429358, rs7412) in a cohort of patients with CAA-associated intracerebral hemorrhage (ICH) (n = 59) and compared the results with those from hypertension-associated ICH (n = 42), AD patients (n = 73) and controls (n = 88). | NA | {
"id": 335,
"name": "APOA1",
"pos": [
39,
5
]
} | {
"id": "C2937358",
"name": "Cerebral Hemorrhage",
"pos": [
184,
24
]
} |
This translocation results in the expression of a fusion protein containing the catalytic domain of anaplastic lymphoma kinase (ALK) under the control of the promoter for nucleophosmin (NPM), a nucleolar phosphoprotein. | NA | {
"id": 4869,
"name": "NPM1",
"pos": [
186,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
5,
13
]
} |
A quality control and quality assurance program for HER-2 testing by FISH, which used tumor specimens from 2963 patients (median age, 56 years) with breast cancer received from 135 hospitals and cancer centers in 29 states, was performed at a reference laboratory from January 1, 1999, to May 15, 2003. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
69,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
149,
13
]
} |
Furthermore, in the long course of chronic kidney diseases (CKD), SHP sometimes transforms into a hypercalcemic condition resembling the autonomous form of hyperparathyroidism (tertiary hyperparathyroidism; THP). | genomic_alterations | {
"id": 7369,
"name": "UMOD",
"pos": [
207,
3
]
} | {
"id": "C0271858",
"name": "Tertiary hyperparathyroidism",
"pos": [
177,
28
]
} |
In WT mice, immunofluorescence revealed that recruited VEGFR1(+) cells in the necrotic area were positive for CD11b. | NA | {
"id": 3684,
"name": "ITGAM",
"pos": [
110,
5
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
78,
8
]
} |
Table 1 Biochemical Alterations in Substantia Nigra of Parkinson's Disease Indicating Oxidative Stress Elevated Decreased Iron (in microglia, astrocytes, oligodendrocytes, and melanized dopamine neurons and mitochondria) GSH (GSSG unchanged); GSH/GSSG ratio decreased Mitochondrial complex I Ferritin Calcium binding protein (calbindin 28) Mitochondrial monoamine oxidase B Transferrin and transferrin receptor Lipofuscin Vitamins E and C Ubiquitin Copper Cu/Zn-superoxide dismutase Cytotoxic cytokines (TNF-a, IL-1, IL-6) Inflammatory transcription factor NFKB Heme oxygenase-1 Ratio of oxidized to reduced glutathione (GSSG/GSH) Nitric oxide Neuromelanin. | therapeutic | {
"id": 6647,
"name": "SOD1",
"pos": [
456,
26
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
55,
19
]
} |
In this study, a novel selenadiazole derivative, 1,2,5-selenadiazolo-[3,4-d]pyrimidine-5,7-(4H,6H)-dione (SPO), is identified as a potent antiproliferative agent against human breast adrenocarcinoma MCF-7 cells, human hepatoma HepG2 cells and human melanoma A375 cells. | NA | {
"id": 4025,
"name": "LPO",
"pos": [
106,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
249,
8
]
} |
Variations in the regulatory region of PARP-1 gene might modify the risk for PD. | genomic_alterations | {
"id": 142,
"name": "PARP1",
"pos": [
39,
6
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
77,
2
]
} |
After adjustment of confounders the frequencies of HLA-DQB1*0503 allele and *0303 allele in chronic hepatitis B group were statistically significant lower than those in asymptomatic HBV carrier group (P = 0.04; P = 0.05), and the frequency of exposure to alcohol consumption in patients with chronic hepatitis B was clearly higher than that in asymptomatic HBV carrier group (P = 0.004). | NA | {
"id": 3119,
"name": "HLA-DQB1",
"pos": [
51,
8
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
255,
19
]
} |
Several genome-wide association studies identified the chr15q25.1 region, which includes three nicotinic cholinergic receptor genes (CHRNA5-B4) and the cell proliferation gene (PSMA4), for its association with lung cancer risk in Caucasians. | genomic_alterations | {
"id": 5685,
"name": "PSMA4",
"pos": [
177,
5
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
210,
11
]
} |
Six PPARA polymorphisms were evaluated in association with incident breast cancer in a population-based case-control study (n = 1073 cases and n = 1112 controls) using unconditional logistic and multilevel regression and haplotype-based analyses. | NA | {
"id": 5465,
"name": "PPARA",
"pos": [
4,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
206,
10
]
} |
HER2-testing in 538 consecutive breast cancer cases using FISH and immunohistochemistry. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
58,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
32,
13
]
} |
Furthermore, adipose ChREBP is a major determinant of adipose tissue fatty acid synthesis and systemic insulin sensitivity. | NA | {
"id": 51085,
"name": "MLXIPL",
"pos": [
21,
6
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
103,
19
]
} |
The strongest evidence for phenotypic association was seen for persistent wheezing (rs8076131 near ORMDL3: relative risk ratio [RRR], 1.60 [95% CI, 1.40-1.84], P = 1.4 × 10(-11); rs2305480 near GSDML: RRR, 1.60 [95% CI, 1.39-1.83], P = 1.5 × 10(-11); and rs9303277 near IKZF3: RRR, 1.57 [95% CI, 1.37-1.79], P = 4.4 × 10(-11)). | genomic_alterations | {
"id": 22806,
"name": "IKZF3",
"pos": [
270,
5
]
} | {
"id": "C0043144",
"name": "Wheezing",
"pos": [
74,
8
]
} |
In this study, the rhythmic expression of the Per2 gene was not detectable in renal cancer cell lines, with the exception of Caki-2 cells. | NA | {
"id": 8864,
"name": "PER2",
"pos": [
46,
9
]
} | {
"id": "C0740457",
"name": "Malignant neoplasm of kidney",
"pos": [
78,
12
]
} |
The addition of 5% DSS to the drinking water of male ICR mice resulted in increases in TLR4 protein in colon tissue and NF-κB p65 subunit in the nuclear fraction on day 3, increases in colonic tumor necrosis factor-α on day 4, and increases in P-selectin, intercellular adhesion molecule-1, NO2(-)/NO3(-), and nitrotyrosine in colonic mucosa on day 5. | NA | {
"id": 7099,
"name": "TLR4",
"pos": [
87,
4
]
} | {
"id": "C0009375",
"name": "Colonic Neoplasms",
"pos": [
185,
13
]
} |
First, whole exome sequencing was conducted to identify disruptive de novo mutations in 14 complete parent-offspring trios with sporadic schizophrenia from Jerusalem, which identified 5 sporadic cases with de novo gene mutations in 5 different genes (PTPRG, TGM5, SLC39A13, BTK, CDKN3). | NA | {
"id": 9333,
"name": "TGM5",
"pos": [
258,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
186,
8
]
} |
Rs858340-G (ENPP1) was significantly associated with decreased insulin sensitivity, independently of age, sex and body-mass-index. | NA | {
"id": 5167,
"name": "ENPP1",
"pos": [
12,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
63,
19
]
} |
The plasma levels of coagulation factor VII and fibrinogen are well known risk factors for arterial thrombosis. | NA | {
"id": 2155,
"name": "F7",
"pos": [
21,
22
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
48,
10
]
} |
This study aimed to evaluate the expression of chemo-radiosensitive genes after neoadjuvant CRT in residual tumor cells. | NA | {
"id": 811,
"name": "CALR",
"pos": [
92,
3
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
99,
14
]
} |
Patients with a history of MI 1 to 3 years before inclusion in the PEGASUS-TIMI 54 trial were stratified in a pre-specified analysis based on the presence of MVD. | genomic_alterations | {
"id": 64376,
"name": "IKZF5",
"pos": [
67,
7
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
27,
2
]
} |
However, CNO without intestinal inflammation is not associated with common CARD15 gene variants. | NA | {
"id": 55330,
"name": "BLOC1S4",
"pos": [
9,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
32,
12
]
} |
Here, we show that autologous DCs from both HLA-A2-positive melanoma patients and normal healthy individuals that are transduced with an adenoviral vector containing the MART-1 antigen are capable of inducing both MART-1-specific CD8+ and CD4+ T cells in in vitro coculture. | NA | {
"id": 920,
"name": "CD4",
"pos": [
239,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
60,
8
]
} |
Thus, we next examined the impact of the risk CHI3L1 polymorphism on personality traits using the TCI. | NA | {
"id": 56925,
"name": "LXN",
"pos": [
98,
3
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
69,
18
]
} |
Probes specific for the centromeric part of chromosome 8 and for the locus specific c-myc gene (8q24) were used to assess disomy, gains of chromosomes (polysomy due to polyploidy) and amplification. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
86,
8
]
} | {
"id": "C0032578",
"name": "Polyploidy",
"pos": [
168,
10
]
} |
CEA-negative glioblastoma and melanoma cells are sensitive to cytosine deaminase/5-fluorocytosine therapy directed by the carcinoembryonic antigen promoter. | biomarker | {
"id": 1084,
"name": "CEACAM3",
"pos": [
0,
3
]
} | {
"id": "C0278878",
"name": "Adult Glioblastoma",
"pos": [
13,
12
]
} |
Plasma CX3CL1 levels were significantly associated with increased odds of significant fibrosis (odds ratio (OR): 3.47 (95% of confidence interval (95%CI): 1.04; 11.58)), advanced fibrosis (OR: 6.78 (95%CI: 1.70; 26.93)), and moderate necroinflammatory activity grade (OR: 4.09 (95%CI: 1.21; 13.87)). | NA | {
"id": 6376,
"name": "CX3CL1",
"pos": [
7,
6
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
179,
8
]
} |
All specimens showed the mild cytoplasmatic HER4 staining of normal myocardium. | NA | {
"id": 2066,
"name": "ERBB4",
"pos": [
44,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
25,
4
]
} |
In conclusion, our data demonstrated that a combined strategy of co-expressed Stat3-specific siRNA and GRIM19 synergistically and more effectively suppressed thyroid tumor growth, and have therapeutic potential for the treatment of thyroid cancer. | biomarker | {
"id": 51079,
"name": "NDUFA13",
"pos": [
103,
6
]
} | {
"id": "C0007115",
"name": "Malignant neoplasm of thyroid",
"pos": [
232,
14
]
} |
This induction was due to activation of autophagic flux, as there was further increase in LC3-II expression upon treatment with lysosomal inhibitors, clear decline of the autophagy substrate p62, and an mRFP-GFP-LC3 fluorescence change in sorafenib-treated hepatoma cells. | NA | {
"id": 84557,
"name": "MAP1LC3A",
"pos": [
212,
3
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
257,
8
]
} |
Besides the recently identified MYB-NFIB fusion oncogene generated by a t(6;9) translocation, little is known about other genetic alterations in ACC. | NA | {
"id": 4602,
"name": "MYB",
"pos": [
32,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
79,
13
]
} |
The putative DHTX is identical to the UVRAG gene, which was originally identified as a gene that complements the UV sensitivity of xeroderma pigmentosum complementation group C. The 4-kb mRNA was found to be encoded by a large gene, at least 300 kb long, composed of 15 exons. | NA | {
"id": 7405,
"name": "UVRAG",
"pos": [
38,
10
]
} | {
"id": "C0043346",
"name": "Xeroderma Pigmentosum",
"pos": [
131,
21
]
} |
In order to determine at what stage in azaserine-induced pancreatic carcinogenesis gastrin (CCK-B) receptors are first expressed, we examined the binding of [125I]gastrin-I to normal rat pancreas, azaserine-induced premalignant pancreatic nodules, grossly normal internodular pancreas, and DSL-6 carcinoma. | NA | {
"id": 885,
"name": "CCK",
"pos": [
92,
3
]
} | {
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
215,
12
]
} |
We genotyped GSTA2_448_C > G (rs2180314), GSTA2_742_A > C (rs6577), GSTM2_-832_T > C (rs638820), GSTO1_-1242_G > A (rs2164624), GSTO1_419_A > C (rs4925), GSTO2_-183_A > G (rs2297235), GSTO2_342_A > G (rs156697), GSTZ1_-4378_A > G (rs1046428), and GSTZ1_94_G > A (rs3177427) by MALDI-TOF MS in the German GENICA breast cancer case-control collection of 1021 cases and 1015 controls and performed breast cancer risk association in general and with respect to the stratifications: menopausal status, family history of breast or ovarian cancer, use of oral contraceptives, use of hormone therapy, body mass index, and smoking as well as histopathological tumor characteristics including hormone receptor status, grade, histology, and node status. | NA | {
"id": 9446,
"name": "GSTO1",
"pos": [
128,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
614,
7
]
} |
In contrast, overexpression of Pin1 drives centrosome duplication and accumulation, resulting in chromosome missegregation, aneuploidy, and transformation in nontransformed NIH 3T3 cells. | NA | {
"id": 23037,
"name": "PDZD2",
"pos": [
31,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
124,
10
]
} |
Our results showed positive statistical significant correlation between ZAP-70 expression and CD38 expression with some of the chromosomal aberrations encompassing bad prognosis as ATM and p53. | NA | {
"id": 7535,
"name": "ZAP70",
"pos": [
72,
6
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
127,
23
]
} |
Significant decreases in cell viability were observed in glioma cells treated with BMS-5 and Cucurbitacin I, while no cytotoxic effects were seen in normal astrocytes that lack LIMK. | NA | {
"id": 3984,
"name": "LIMK1",
"pos": [
177,
4
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
57,
6
]
} |
Of the 190 histological mimics, diffuse pan-TRK immunoreactivity was noted in 16 (8%) cases, including five PMMTI, five FHI (highlighting predominantly the primitive myxoid spindle-cell components), three F-DFSP, one low-grade myofibroblastic sarcoma, one myofibroma and one spindle-cell rhabdomyosarcoma. | biomarker | {
"id": 7170,
"name": "TPM3",
"pos": [
44,
3
]
} | {
"id": "C0265979",
"name": "Fibrous Hamartoma of Infancy",
"pos": [
120,
3
]
} |
A switch from <i>MAT1A</i> to <i>MAT2A/MAT2B</i> occurs in multiple liver diseases and during liver growth and dedifferentiation, but this change in the expression pattern of MATs results in reduced hepatic SAMe level. | biomarker | {
"id": 4144,
"name": "MAT2A",
"pos": [
51,
5
]
} | {
"id": "C0002793",
"name": "Anaplasia",
"pos": [
135,
17
]
} |
ATR-Seckel Syndrome is conferred by mutations in ataxia and telangiectasia and Rad3 related (ATR), a kinase that activates a DNA damage signalling response. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
93,
3
]
} | {
"id": "C0007758",
"name": "Cerebellar Ataxia",
"pos": [
49,
6
]
} |
Several case-control studies have been conducted to investigate the association between Interleukin-21 (IL-21) polymorphisms and systemic lupus erythematosus (SLE) susceptibility, and most of the studies focused on IL-21 rs907715 and rs2221903 polymorphisms. | NA | {
"id": 27189,
"name": "IL17C",
"pos": [
215,
5
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
129,
28
]
} |
BACKGROUND: The epithelial-to-mesenchymal transition (EMT) is a key process in carcinogenesis, invasion, and metastasis of oral squamous cell carcinoma (OSCC). | NA | {
"id": 3702,
"name": "ITK",
"pos": [
54,
3
]
} | {
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
128,
23
]
} |
Thymosin beta 4 is associated with collateral development in coronary artery disease. | biomarker | {
"id": 7114,
"name": "TMSB4X",
"pos": [
0,
15
]
} | {
"id": "C0010068",
"name": "Coronary heart disease",
"pos": [
61,
23
]
} |
These results support a role of MIF in disease aggressiveness, indicating its potential usefulness as a candidate target for designing improved treatment in pancreatic cancer. | NA | {
"id": 268,
"name": "AMH",
"pos": [
32,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
157,
17
]
} |
Primary antiphospholipid antibody syndrome with mutations in the phospholipid binding domain of beta(2)-glycoprotein I. | genomic_alterations | {
"id": 350,
"name": "APOH",
"pos": [
96,
22
]
} | {
"id": "C0085278",
"name": "Antiphospholipid Syndrome",
"pos": [
8,
34
]
} |
We performed an autopsy of a 73-year-old woman with a late-onset neuropathy caused by an H10P MPZ mutation whose nerve conduction studies suggested severe axonal loss but no demyelination. | NA | {
"id": 4359,
"name": "MPZ",
"pos": [
94,
3
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
174,
13
]
} |
Silencing of Gli1 alone without external stimulus had no effect on EMT but inhibited transforming growth factor-beta1 (TGFβ1)- and epidermal growth factor (EGF)-induced EMT in PANC-1, AsPC-1, and BxPC-3 PC cell lines, along with the inhibition of TGFβ1- and EGF-induced EMT-like cell morphology and invasion, down-regulation of E-cad, and up-regulation of MMP9 and Vimentin in those 3 cell lines, respectively. | NA | {
"id": 2735,
"name": "GLI1",
"pos": [
13,
4
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
330,
3
]
} |
Early intra-treatment changes in FDG-PET, DW and DCE MRI-derived parameters are predictive of ultimate response to chemoradiation in HNSCC. | genomic_alterations | {
"id": 23583,
"name": "SMUG1",
"pos": [
33,
3
]
} | {
"id": "C1168401",
"name": "Squamous cell carcinoma of the head and neck",
"pos": [
133,
5
]
} |
There is strong evidence that DM1 CUG and DM2 CCUG expansion transcripts sequester muscleblind-like (MBNL) proteins and that loss of MBNL function causes alternative splicing abnormalities that contribute to disease. | NA | {
"id": 4154,
"name": "MBNL1",
"pos": [
133,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
175,
13
]
} |
These five markers, especially PTX3 and sFlt-1, could have the value of prediction for those patients who would develop GDM in the late second trimester. | biomarker | {
"id": 5806,
"name": "PTX3",
"pos": [
31,
4
]
} | {
"id": "C0085207",
"name": "Gestational Diabetes",
"pos": [
120,
3
]
} |
The jck mouse is another model of recessive cystic kidney disease, and this mouse harbors a missense mutation, G448V, in the highly conserved RCC1 domain of Nek8. | NA | {
"id": 1104,
"name": "RCC1",
"pos": [
142,
4
]
} | {
"id": "C1691228",
"name": "Cystic Kidney Diseases",
"pos": [
44,
21
]
} |
We investigated epigenetic and genetic abnormalities in GBC affecting 6 candidate tumor suppressor genes (TSG) located in chromosome 3p, including DUTT1 (3p12), FHIT (3p14.2), BLU, RASSF1A, SEMA3B and hMLH1 (3p21.3). | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
161,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
39,
13
]
} |
Plasma apoE was increased 60% in both NS and analbuminemia compared with control (CTRL) as a result of a 60% decreased apoE clearance. | NA | {
"id": 1506,
"name": "CTRL",
"pos": [
82,
4
]
} | {
"id": "C0878666",
"name": "Analbuminemia",
"pos": [
45,
13
]
} |
In the current study, we investigated the role of the polymorphic CYP2E1 and CYP2D6 genes in the genotoxicity of NNK using the tandem-probe fluorescence in-situ hybridization (FISH) chromosome aberration assay as a marker. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
176,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
182,
21
]
} |
No association of smoking, alcohol and meat consumption with VEGF-A and CCL2 was observed after analyzing the data with univariate and multivariate analysis. | NA | {
"id": 6347,
"name": "CCL2",
"pos": [
72,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
18,
7
]
} |
This results in infertility and congenital myotonic dystrophy (CDM) with the disappearance of DM in that pedigree. | NA | {
"id": 10134,
"name": "BCAP31",
"pos": [
63,
3
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
16,
11
]
} |
Oncogene-induced senescence (OIS) and therapy-induced senescence (TIS), while tumor-suppressive, also promote procarcinogenic effects by activating the DNA damage response (DDR), which in turn induces inflammation. | NA | {
"id": 780,
"name": "DDR1",
"pos": [
173,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
201,
12
]
} |
An increase in plasma free tryptophan, resulting in an enhanced plasma concentration ratio of free tryptophan/BCAA, may lead to a higher 5-HT concentration in some parts of the brain and, consequently, to central fatigue. | NA | {
"id": 51742,
"name": "ARID4B",
"pos": [
110,
4
]
} | {
"id": "C0015672",
"name": "Fatigue",
"pos": [
213,
7
]
} |
WD has an estimated incidence of 1 in 500,000 live births and is the result of a complete loss of LAL and presents in infancy with vomiting, diarrhea, poor weight gain and hepatomegaly subsequently leading to death. | NA | {
"id": 3988,
"name": "LIPA",
"pos": [
98,
3
]
} | {
"id": "C0231246",
"name": "Failure to gain weight",
"pos": [
151,
16
]
} |
BRCA1-associated hereditary breast carcinomas (HBCs) are diagnosed at a younger age and are known to show biological aggressiveness such as a high histological grade, frequent aneuploidy, compared to sporadic breast carcinomas. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
0,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
117,
14
]
} |
Potent inhibition of arterial intimal hyperplasia by TIMP1 gene transfer using AAV vectors. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
79,
3
]
} | {
"id": "C0334096",
"name": "Intimal proliferation",
"pos": [
30,
19
]
} |
One cis-eQTL, rs16969968, results in a functionally disruptive missense mutation in CHRNA5, a schizophrenia-implicated gene. | genomic_alterations | {
"id": 1138,
"name": "CHRNA5",
"pos": [
84,
6
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
94,
13
]
} |
Analysis of synapsin III-196 promoter mutation in schizophrenia and bipolar disorder. | genomic_alterations | {
"id": 8224,
"name": "SYN3",
"pos": [
12,
12
]
} | {
"id": "C0005586",
"name": "Bipolar Disorder",
"pos": [
68,
16
]
} |
Thermally Stable Ionic Liquid-Based Microemulsions for High-Temperature Stabilization of Lysozyme at Nanointerfaces. | biomarker | {
"id": 4069,
"name": "LYZ",
"pos": [
89,
8
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
55,
16
]
} |
In 79 patients with leprosy a significant increase of anti-extractable nuclear antigen (ENA) antibodies and circulating immune complexes (CIC) was found. | NA | {
"id": 55740,
"name": "ENAH",
"pos": [
88,
3
]
} | {
"id": "C0023343",
"name": "Leprosy",
"pos": [
20,
7
]
} |
To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. | genomic_alterations | {
"id": 54880,
"name": "BCOR",
"pos": [
98,
4
]
} | {
"id": "C1846265",
"name": "Microphthalmia, syndromic 2",
"pos": [
129,
13
]
} |
Adenoviral vectors encoding a human B-domain deleted (BDD) FVIII cDNA have been shown previously to mediate expression of high levels of human FVIII and correct the bleeding defect in haemophiliac mice and dogs. | NA | {
"id": 2157,
"name": "F8",
"pos": [
143,
5
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
165,
8
]
} |
Hypoxia promotes translocation of HIF1α to the nucleus to facilitate its binding to PIASy, enabling the conjugation of HIF1α by SUMO1. | NA | {
"id": 7341,
"name": "SUMO1",
"pos": [
128,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
17,
13
]
} |
We performed homozygosity mapping and exome sequencing in a family with encephalopathy and non-specific ARID and identified a homozygous 3 bp deletion (p.Leu197del) in the GPI remodeling gene PGAP1. | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
172,
3
]
} | {
"id": "C0085584",
"name": "Encephalopathies",
"pos": [
72,
14
]
} |
TNF-alpha and IL-4 are commonly expressed by colon carcinoma TIL and both are associated with improved survival. | NA | {
"id": 7096,
"name": "TLR1",
"pos": [
61,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
45,
15
]
} |
Our data suggest that loss of T-cadherin can increase metastatic potential and aggressiveness of SCC, possibly due to facilitating arrest and extravasation through the vascular wall and/or more efficient establishment of metastases in the new microenvironment. | NA | {
"id": 1012,
"name": "CDH13",
"pos": [
30,
10
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
79,
14
]
} |
The NF2-encoded protein Merlin is closely related to the Ezrin-Radixin-Moesin family of membrane/cytoskeleton linker proteins, and has been demonstrated to suppress tumor growth by inhibiting extracellular signal-regulated kinase (ERK) and Rac1 activation. | biomarker | {
"id": 4478,
"name": "MSN",
"pos": [
71,
6
]
} | {
"id": "C0027832",
"name": "Neurofibromatosis 2",
"pos": [
4,
3
]
} |
ASL-MRI seems to be a useful tool for the detection and follow-up of perfusion changes in patients and asymptomatic carriers harboring the PRNP mutation. | NA | {
"id": 5621,
"name": "PRNP",
"pos": [
139,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
103,
12
]
} |
Our results suggested that MD-1 could be a susceptible gene for mite-sensitive allergy in Taiwanese children. | NA | {
"id": 9450,
"name": "LY86",
"pos": [
27,
4
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
79,
7
]
} |
], GSTT1 null genotype (OR, 1.54; 95% CI, 1.43 to 3.47; P = .02), and male factor infertility. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
3,
5
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
82,
11
]
} |
Several magnetization transfer magnetic resonance imaging (MRI) studies have revealed abnormalities in normal-appearing gray matter in NMOsd. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
59,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
86,
13
]
} |
Tumor-specific hyperactive low-molecular-weight cyclin E isoforms detection and characterization in non-metastatic colorectal tumors. | NA | {
"id": 898,
"name": "CCNE1",
"pos": [
48,
8
]
} | {
"id": "C0009404",
"name": "Colorectal Neoplasms",
"pos": [
115,
17
]
} |
HDP was associated with greater incidence of CAD (HR: 1.8; 95% CI: 1.3 to 2.6; p < 0.001), heart failure (HR: 1.7; 95% CI: 1.04 to 2.60; p = 0.03), aortic stenosis (HR: 2.9; 95% CI: 1.5 to 5.4; p < 0.001), and mitral regurgitation (HR: 5.0; 95% CI: 1.5 to 17.1; p = 0.01). | genomic_alterations | {
"id": 790,
"name": "CAD",
"pos": [
45,
3
]
} | {
"id": "C0003507",
"name": "Aortic Valve Stenosis",
"pos": [
151,
15
]
} |
Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
59,
3
]
} | {
"id": "C0036857",
"name": "Severe intellectual disability",
"pos": [
116,
30
]
} |
We isolated two different cDNA clones from the vulvar carcinoma cell line A-431, in which this protein is abundant: One clone seems to represent the entire mRNA, whereas the other is only a minor component and encodes a truncated cytokeratin 13 lacking most of the carboxy-terminal tail domain, probably a product of alternative, "incorrect" splicing. | NA | {
"id": 3860,
"name": "KRT13",
"pos": [
230,
14
]
} | {
"id": "C0677055",
"name": "CARCINOMA OF VULVA",
"pos": [
47,
16
]
} |
Here we show acute and delayed neurodegeneration and its pharmacology after local kainic acid injection in prodynorphin knockout and wild-type mice and neuroprotective effect(s) of KOP activation in wild-type mice. | NA | {
"id": 5173,
"name": "PDYN",
"pos": [
107,
12
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
31,
17
]
} |
The leukocyte protein L-plastin induces proliferation, invasion and loss of E-cadherin expression in colon cancer cells. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
22,
9
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
101,
12
]
} |
In most cases, CDKN2A and TP53 mutations are early genetic events in CSCC tumorigenesis. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
15,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
74,
13
]
} |
Our data suggest for the first time that L1CAM expression in HCC was significantly correlated with the advanced tumor progression and was an independent poor prognostic factor for both overall survival and disease-free survival in patients with HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
245,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
112,
17
]
} |
C57BL6 mice were infected on E16 with a sublethal dose of human influenza virus or sham-infected using vehicle solution. | NA | {
"id": 8140,
"name": "SLC7A5",
"pos": [
29,
3
]
} | {
"id": "C0021400",
"name": "Influenza",
"pos": [
58,
15
]
} |
Human T-cell lymphotropic virus type 1 (HTLV-1) is an oncogenic retrovirus and the etiologic agent of adult T-cell leukemia (ATL), an aggressive CD4(+) malignancy. | NA | {
"id": 920,
"name": "CD4",
"pos": [
145,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
152,
10
]
} |
These findings confirm previous studies that aneusomy of 7 is associated with prostate cancer progression, and there may be a tumor suppressor gene (TSG) at 7q31.1 which is associated with tumor progression. | NA | {
"id": 57045,
"name": "TWSG1",
"pos": [
149,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
189,
17
]
} |
We have identified a male patient with mental retardation and autism who has a balanced translocation involving chromosomes 6 and 7, described as t(6;7)(p11-p12;q22). | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
157,
3
]
} | {
"id": "C0004352",
"name": "Autistic Disorder",
"pos": [
62,
6
]
} |
We employed a two-hit endotoxemia/pneumonia model, whereby administration of 18 h of intraperitoneal lipopolysaccharide (LPS; 5 mg/kg of body weight) was followed by intratracheal Escherichia coli (10(6) CFU) in wild-type mice or those lacking hepatocyte STAT3 (hepSTAT3(-/-)). | NA | {
"id": 6774,
"name": "STAT3",
"pos": [
255,
5
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
18,
3
]
} |
A common arterial trunk (CAT) is often diagnosed as PTA in the absence of evidence of embryological mechanism. | NA | {
"id": 847,
"name": "CAT",
"pos": [
25,
3
]
} | {
"id": "C0041207",
"name": "Truncus Arteriosus, Persistent",
"pos": [
2,
21
]
} |
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