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dict | t
dict |
|---|---|---|---|
Proteasome inhibition aggravates tumor necrosis factor-mediated bone resorption in a mouse model of inflammatory arthritis. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
33,
21
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
64,
15
]
} |
In this study, we determined TOP2A status in 61 breast tumor samples by real-time PCR, DNA microarrays, immunohistochemistry (IHC), and fluorescence in situ hybridization (FISH), and then evaluated these results with clinical-pathological features and breast cancer intrinsic subtypes. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
172,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
252,
13
]
} |
The effects included increased drug sensitivity to cisplatin, apoptotic rate, cell cycle arrest in the G2/M phase and intracellular accumulation of rhodamine‑123, and decreased expression of multidrug resistance gene 1, lung resistance protein, multidrug resistance‑associated protein, glutathione S‑transferase π, ATP‑binding cassette transporter A2 (ABCA2), ABCA5, B‑cell lymphoma 2 and P‑glycoprotein, and the depletion of glutathione in Sorcin‑silenced A549/DDP cells. | NA | {
"id": 20,
"name": "ABCA2",
"pos": [
352,
5
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
374,
8
]
} |
Administration of optimal biological dose and schedule of interferon alpha combined with gemcitabine induces apoptosis in tumor-associated endothelial cells and reduces growth of human pancreatic carcinoma implanted orthotopically in nude mice. | therapeutic | {
"id": 3440,
"name": "IFNA2",
"pos": [
58,
19
]
} | {
"id": "C0030297",
"name": "Pancreatic Neoplasm",
"pos": [
185,
20
]
} |
Warfarin-induced calcification of AS group HAVICs at 3.2 mM Pi was significantly inhibited by dorsomorphin, a Smad inhibitor, and the pregnane X receptor (PXR) inhibitors, ketoconazole and coumestrol, but was unaffected by SN-50, an NF-κB inhibitor. | biomarker | {
"id": 8856,
"name": "NR1I2",
"pos": [
155,
3
]
} | {
"id": "C0003507",
"name": "Aortic Valve Stenosis",
"pos": [
34,
2
]
} |
Based on cold-inducibility of the gene and the presence of two acyl-CoA thioesterase domains, we termed the protein brown-fat-inducible thioesterase (BFIT). | NA | {
"id": 26027,
"name": "ACOT11",
"pos": [
150,
4
]
} | {
"id": "C0009443",
"name": "Common Cold",
"pos": [
9,
4
]
} |
In conclusion, our study identifies an association of NBS1 expression with surrogates of genomic instability in prostate cancer including TMPRSS2-ERG rearrangements and PTEN deletion. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
169,
4
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
89,
19
]
} |
This fusion has recently been described as a variant translocation in low-grade fibromyxoid sarcoma (LGFMS), a tumor more typically characterized by a recurrent t(7;16) chromosomal translocation, resulting in the fusion of FUS and CREB3L2 genes. | NA | {
"id": 2521,
"name": "FUS",
"pos": [
223,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
169,
25
]
} |
In order to study the potential contribution of genetic variation in the estrogen receptor (ER) alpha to specific personality traits, we investigated a repeat polymorphism in the ER alpha gene in 172 42-year-old women who had been assessed using the Karolinska Scales of Personality (KSP). | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
73,
17
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
114,
18
]
} |
Her2 amplification status in Iranian breast cancer patients: comparison of immunohistochemistry (IHC) and fluorescence in situ hybridisation (FISH). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
142,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
37,
13
]
} |
This study evaluated DNA methylation, transcription (reverse transcription polymerase chain reaction), and translation patterns (immunostaining and Western blot) in fetal membrane from term labor (n = 14), term not in labor (TNIL; n = 29), and spontaneous preterm birth (PTB; n = 27). | NA | {
"id": 5725,
"name": "PTBP1",
"pos": [
271,
3
]
} | {
"id": "C3827961",
"name": "Spontaneous Preterm Birth",
"pos": [
244,
25
]
} |
UBE2C, CCNB1, CCNB2, PLOD2, NUP210, MELK, CDC20 genes were overexpressed in tumours and in CIN3/CIS relative to both Normal and CIN1/CIN2, suggesting that they could have a role to play in the early phase of tumorigenesis. | NA | {
"id": 23225,
"name": "NUP210",
"pos": [
28,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
208,
13
]
} |
The frequently detected t(4;14)(p16.3;q32) translocation in multiple myeloma (MM) results in a dysregulation of two potential oncogenes: multiple myeloma SET domain (MMSET) and fibroblast growth factor receptor 3 (FGFR3). | NA | {
"id": 7468,
"name": "NSD2",
"pos": [
166,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
43,
13
]
} |
The Axin/TNKS complex interacts with KIF3A and is required for insulin-stimulated GLUT4 translocation. | NA | {
"id": 6517,
"name": "SLC2A4",
"pos": [
82,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
88,
13
]
} |
In this study, we show that latent membrane protein 1 (LMP1), the principal oncoprotein of Epstein-Barr virus (EBV), modulates telomerase activity by inducing the direct binding of hTERT to nuclear factor kappaB (NF-kappaB) p65 and translocation of both proteins from the cytoplasm to the nucleus in nasopharyngeal carcinoma cells (NPC). | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
213,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
232,
13
]
} |
Break-apart ALK FISH probe is the FDA approved approach for detection of ALK rearrangements in lung carcinoma patients who may benefit from ALK kinase inhibitors. | genomic_alterations | {
"id": 238,
"name": "ALK",
"pos": [
73,
3
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
95,
14
]
} |
The hypertension caused by angiotensin II in CD4(-/-) and MHCII(-/-) mice was similar to that observed in wild-type mice, whereas CD8(-/-) mice and OT1xRAG-1(-/-) mice, which have only 1 T-cell receptor, exhibited a blunted hypertensive response to angiotensin II. | therapeutic | {
"id": 183,
"name": "AGT",
"pos": [
27,
14
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
4,
12
]
} |
Specificity for the binding of the molecularly targeted anti-c-MET contrast agent was determined using rat hepatoma (H4-II-E-C3) cell cultures and immunofluorescence microscopic imaging of the targeting agents within neoplastic liver tissue 1 to 2 hours following intravenous administration of SPIO-anti-c-MET and MRI investigation. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
314,
3
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
107,
8
]
} |
Our data present, for the first time, evidence that inherited MLH1 c.-93G>A, MSH2 c.211 + 9C>G, MSH3 c.3133G>A, and EXO1 c.1765G>A abnormalities of DNA MMR pathway are important determinants of HNSCC, particularly among smokers, and predictors of patient outcomes. | NA | {
"id": 4436,
"name": "MSH2",
"pos": [
77,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
131,
13
]
} |
These findings represent the first observation that plasma, PBMC and adipose tissue OPN and IL-18 are simultaneously increased and correlate with each other in overweight/obese individuals which may trigger the development of obesity-associated insulin resistance. | NA | {
"id": 3606,
"name": "IL18",
"pos": [
92,
5
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
160,
10
]
} |
A heterozygous mutation of codon 201 of Gs alpha (GGT [Arg]-CAT [His]) was observed in a nodule from an adenomatous goiter. | biomarker | {
"id": 729838,
"name": "GGTLC4P",
"pos": [
50,
3
]
} | {
"id": "C0028259",
"name": "Nodule",
"pos": [
89,
6
]
} |
Also, we showed that adenovirus-mediated siRNA targeting Bcl-xL could significantly inhibit proliferation and colony formation of CRC cells. | NA | {
"id": 598,
"name": "BCL2L1",
"pos": [
57,
6
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
21,
10
]
} |
The level of free tissue factor pathway inhibitor was within the normal range and similar in symptomatic and asymptomatic subjects. | NA | {
"id": 7035,
"name": "TFPI",
"pos": [
18,
31
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
109,
12
]
} |
Inter-individual variations in GSTM1 and GSTT1 loci have been associated with several types of cancer, including leukemias. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
41,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
95,
6
]
} |
As part of the five-year follow-up of the Edinburgh Artery Study, polymorphisms of the fibrinogen (-455G/A), factor VII (R/Q353) and PAI-1 (HindIII) genes were measured in men and women aged 60-79 years, together with their plasma levels. | NA | {
"id": 2155,
"name": "F7",
"pos": [
109,
10
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
87,
10
]
} |
T-cell large granular lymphocytic leukemia is a rare lymphoproliferative disorder characterized by the expansion of clonal CD3+CD8+ cytotoxic T lymphocytes (CTLs) and often associated with autoimmune disorders and immune-mediated cytopenias. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
127,
3
]
} | {
"id": "C0024314",
"name": "Lymphoproliferative Disorders",
"pos": [
53,
28
]
} |
We have found that SNP-based mapping array data and fluorescence in situ hybridization (FISH) copy number data correlated well, making the technique robust as a tool to investigate myeloma genomics. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
88,
4
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
181,
7
]
} |
A statistically significant difference between various genotypes of UCP1 and BMI, GMT, systolic blood pressure, diastolic blood pressure was found among females. | NA | {
"id": 7350,
"name": "UCP1",
"pos": [
68,
4
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
87,
23
]
} |
In our case-control study, we assess whether Msp1 polymorphism of CYP1A1 (CYP1A1*2A), and His(113) in exon 3 and Arg(139) in exon 4 of the mEH susceptibility genotypes, tobacco-use and age factors contribute to bladder cancer risk among Indians. | genomic_alterations | {
"id": 84896,
"name": "ATAD1",
"pos": [
45,
4
]
} | {
"id": "C0005684",
"name": "Malignant neoplasm of urinary bladder",
"pos": [
211,
14
]
} |
Our results show that EGFR and k-ras mutation analysis, combined with chromosomal copy number profiling, can help in defining the relationship among different tumors in one patient. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
22,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
159,
6
]
} |
Recently, we identified S100P overexpression as a strong predictor for metastasis development in early-stage non-small cell lung cancer (NSCLC) patients. | NA | {
"id": 6286,
"name": "S100P",
"pos": [
24,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
71,
10
]
} |
Response to lithium augmentation in depression is associated with the glycogen synthase kinase 3-beta -50T/C single nucleotide polymorphism. | genomic_alterations | {
"id": 2932,
"name": "GSK3B",
"pos": [
70,
31
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
36,
10
]
} |
We found that the IL-10 -1082 AA genotype and the TNF-alpha -308 A allele increased the risk of severe tubal damage in women with infertility associated with C. trachomatis (odds ratio [OR], 7.3 [95% confidence interval {CI}, 1.3-42] and 4.0 [95% CI, 1.0-16], respectively), suggesting that differences in these genes contribute to the wide spectrum of disease manifestations. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
50,
9
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
130,
11
]
} |
Differences in viral load reduction were evaluated by IL-28B genotype between baseline, week 1, week 2 and week 4. | NA | {
"id": 282617,
"name": "IFNL3",
"pos": [
54,
6
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
15,
10
]
} |
Variability of the uncoupling protein 3 (UCP3) promoter has been associated with increased body mass index (BMI) and altered lipid profiles. | NA | {
"id": 7352,
"name": "UCP3",
"pos": [
41,
4
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
91,
15
]
} |
A clonal chromosome abnormality detected by conventional cytogenetics and/or FISH was found in 33/47 patients (70%) being identified in 18 (18/33, 55%) as a complex abnormality. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
77,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
9,
22
]
} |
Molecular genetic analysis of von Hippel-Lindau tumor suppressor gene (VHL gene) was performed on 38 tissues of human glial tumors (ependymoma, 1; astrocytoma, 6; oligodendroglioma, 1; oligoastrocytoma, 2; anaplastic oligoastrocytoma, 3; anaplastic astrocytoma, 14; glioblastoma multiforme, 11). | NA | {
"id": 7428,
"name": "VHL",
"pos": [
71,
8
]
} | {
"id": "C0334579",
"name": "Anaplastic astrocytoma",
"pos": [
238,
22
]
} |
In addition, the frequency of genotypes that possess HLA-DQB1*07 allele in the H. pylori-positive children (with peptic ulcer/ chronic gastritis only) was significantly lower than that in the H. pylori-negative control group. | NA | {
"id": 3119,
"name": "HLA-DQB1",
"pos": [
53,
8
]
} | {
"id": "C0030920",
"name": "Peptic Ulcer",
"pos": [
113,
12
]
} |
Over the last decade, fluorescence in situ hybridization (FISH) has been progressively incorporated as a diagnostic tool for the evaluation of endometrial stromal tumors. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
58,
4
]
} | {
"id": "C0334695",
"name": "Endometrial Stromal Tumors",
"pos": [
143,
26
]
} |
Eighteen gastric cancer cell lines showed 95% unmethylation of lamin A/C and 1 cell line showed partial methylation. | NA | {
"id": 4000,
"name": "LMNA",
"pos": [
63,
9
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
9,
14
]
} |
Our results indicated that the GST-null allele (GSTT1-null/GSTM1-null) is a risk factor for ESRD and carriers of this allele have high levels of MDA. | genomic_alterations | {
"id": 2944,
"name": "GSTM1",
"pos": [
59,
5
]
} | {
"id": "C0022661",
"name": "Kidney Failure, Chronic",
"pos": [
92,
4
]
} |
Updated 2013 College of American Pathologists/American Society of Clinical Oncology (CAP/ASCO) guideline recommendations for human epidermal growth factor receptor 2 (HER2) fluorescent in situ hybridization (FISH) testing increase HER2 positive and HER2 equivocal breast cancer cases; retrospective study of HER2 FISH results of 836 invasive breast cancers. | biomarker | {
"id": 9200,
"name": "HACD1",
"pos": [
85,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
264,
13
]
} |
Enhanced target expression and ADC antitumor activity were realized irrespective of the response of the tumor model to the BRAF or MEK inhibitors alone and could be achieved in melanoma with mutant NRAS, BRAF, or neither mutation. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
198,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
177,
8
]
} |
"Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." | therapeutic | {
"id": 590,
"name": "BCHE",
"pos": [
29,
4
]
} | {
"id": "C0003578",
"name": "Apnea",
"pos": [
120,
5
]
} |
Thus, more studies seem warranted to establish the role of CHI3L1 gene in asthma and atopy. | NA | {
"id": 1116,
"name": "CHI3L1",
"pos": [
59,
11
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
85,
5
]
} |
In this autoimmune inflammatory disease, CD4(+) T cells mediate demyelination in the peripheral nervous system (PNS). | NA | {
"id": 920,
"name": "CD4",
"pos": [
41,
3
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
64,
13
]
} |
We, in the present study, constructed a self-replicable adenovirus in which E1A is driven by a CEA promoter and E1B-55K is deleted from the E1B region (AdCEAp/Rep) and examined its effects on multiple metastases of a human colon cancer cell in a mouse xenograft model. | NA | {
"id": 594,
"name": "BCKDHB",
"pos": [
140,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
223,
12
]
} |
Additional genetic abnormalities involve breakpoints and deletion at the 3' end of the cyclin D1 gene, numerical chromosomal aberrations, mutations in p53, and deletions of p16. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
151,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
113,
23
]
} |
Genetic variants in the EGFR and UGT2A1/2 may increase susceptibility of EOC in AA women. | genomic_alterations | {
"id": 10941,
"name": "UGT2A1",
"pos": [
33,
6
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
73,
3
]
} |
Acute losartan pre-administration markedly reversed the IR-suppressed levels of the hepatic-protective factors IL (interleukin)-6, IFN (interferon)-γ, Wnt3a, β-catenin and HIF-1α, and decreased hepatic blood flow and IR-elevated serum ALT (alanine aminotransferase), hepatic TNF (tumour necrosis factor)-α, IL-1α, hepatic congestion, vacuolization and necrosis, hepatic Suzuki IRI scores, necrotic index and levels of TBARS (thiobarbituric acid-reacting substances) in MCD/HF-NASH rats. | NA | {
"id": 89780,
"name": "WNT3A",
"pos": [
151,
5
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
389,
8
]
} |
L1CAM regulates DNA damage checkpoint response of glioblastoma stem cells through NBS1. | biomarker | {
"id": 3897,
"name": "L1CAM",
"pos": [
0,
5
]
} | {
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
50,
12
]
} |
Methylation levels of PTEN, PPP2R2B, FOXC1, ABCB1 and BRCA1 were lower in tumors harboring TP53 mutations then in tumors with wild type TP53. | NA | {
"id": 5521,
"name": "PPP2R2B",
"pos": [
28,
7
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
114,
6
]
} |
Here, we have proposed a framework to identify perturbation and preservation characteristics of gene expression patterns across six distinct regions of the brain ("EC", "HIP", "PC", "MTG", "SFG", and "VCX") affected in AD. | biomarker | {
"id": 5646,
"name": "PRSS3",
"pos": [
183,
3
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
219,
2
]
} |
Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
36,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
64,
19
]
} |
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": 8909,
"name": "ENDOU",
"pos": [
153,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
88,
13
]
} |
However, whether membrane protein can serve not only as a tumor marker that reflects YAP function but also as a therapeutic target that stimulates tumorigenesis in HCC remains unknown. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
164,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
147,
13
]
} |
Using the next-generation sequencing approach, we identified threeupregulated microRNAs (miRNA; miR-192-5p, miR-584-3p, and miR-1246) in melanoma cellstreated with metformin. | biomarker | {
"id": 100302142,
"name": "MIR1246",
"pos": [
124,
8
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
137,
8
]
} |
The aim of our study was to determine the utility of longitudinal magnetic resonance imaging (MRI) measurements as potential biomarkers in the main genetic variants of frontotemporal dementia (FTD), including microtubule-associated protein tau (MAPT) and progranulin (GRN) mutations and C9ORF72 repeat expansions, as well as sporadic FTD. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
94,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
325,
8
]
} |
Here, we report on the use of a mouse model of intestinal ischemia/reperfusion injury to investigate the strategy of targeting complement inhibition to sites of complement activation by linking an iC3b/C3dg-binding fragment of mouse complement receptor 2 (CR2) to a mouse complement-inhibitory protein, Crry. | NA | {
"id": 1380,
"name": "CR2",
"pos": [
256,
3
]
} | {
"id": "C2004435",
"name": "Vascular insufficiency of intestine",
"pos": [
47,
19
]
} |
RESULTS: During the period on cART, neither vaccines nor low-level viremia influenced thymic function or IL-7/CD127 system parameters. | NA | {
"id": 3574,
"name": "IL7",
"pos": [
105,
4
]
} | {
"id": "C0042749",
"name": "Viremia",
"pos": [
67,
7
]
} |
The W258X and/or R90H mutations in the SLC22A12 gene are one of the major factors responsible for hypouricaemia, and one-third of the hypouricaemic subjects had one or both of the mutant alleles. | genomic_alterations | {
"id": 116085,
"name": "SLC22A12",
"pos": [
39,
8
]
} | {
"id": "C0221333",
"name": "Hypouricemia",
"pos": [
98,
13
]
} |
Analysis of an interferon-gamma gene (IFNG) polymorphism in Danish and Finnish insulin-dependent diabetes mellitus (IDDM) patients and control subjects. Danish Study Group of Diabetes in Childhood. | genomic_alterations | {
"id": 3458,
"name": "IFNG",
"pos": [
15,
16
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
175,
8
]
} |
We describe here the molecular basis of an isolated hereditary giant platelet disorder (GPD) which is not accompanied with thrombocytopenia or leukocyte inclusion. | NA | {
"id": 2532,
"name": "ACKR1",
"pos": [
88,
3
]
} | {
"id": "C0005818",
"name": "Blood Platelet Disorders",
"pos": [
69,
17
]
} |
Pin1 is associated with aggressive tumour progression and poor prognosis in HCC by mediating NF-κB activation. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
76,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
35,
18
]
} |
More recently, the additional expression of the costimulatory molecules B7-1 (CD80) and B7-2 (CD86) on antigen presenting cells were found to play an important role in the activation of T-lymphocytes in transplant rejection. | NA | {
"id": 941,
"name": "CD80",
"pos": [
78,
4
]
} | {
"id": "C0018129",
"name": "Graft Rejection",
"pos": [
203,
20
]
} |
A human mesangial cell line was cultured in normal or high glucose conditions, with or without SPR, for 24 h. Plasma glucose levels and systolic blood pressure were unaltered by diabetes or by SPR treatment. | NA | {
"id": 6697,
"name": "SPR",
"pos": [
193,
3
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
136,
23
]
} |
Recently, RECQL4 was identified as the gene responsible for some cases of Rothmund-Thomson syndrome (RTS), a rare autosomal recessive genetic disorder that shows chromosomal instability, premature aging, and a high risk of mesenchymal tumors. | NA | {
"id": 9401,
"name": "RECQL4",
"pos": [
10,
6
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
162,
23
]
} |
In addition, the results suggest that the proposed link between inflammation and BMP-SMAD signalling is independent of HJV and BMP ligands. | NA | {
"id": 148738,
"name": "HJV",
"pos": [
119,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
64,
12
]
} |
High-sensitive CRP as a predictive marker of long-term outcome in juvenile idiopathic arthritis. | biomarker | {
"id": 1401,
"name": "CRP",
"pos": [
15,
3
]
} | {
"id": "C3714757",
"name": "Juvenile rheumatoid arthritis",
"pos": [
66,
29
]
} |
We investigated the impact of glucocorticoid receptor gene polymorphisms, including the BclI, N363S and ER22/23EK variants, on anthropometric parameters (BMI and waist circumference), metabolic profile (HOMA, OGTT and serum lipids) and ACTH levels in 50 patients with Addison's disease (34 women and 16 men, age 20-82 year) under glucocorticoids replacement. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
236,
4
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
162,
19
]
} |
Effects on both replication and promotion of enhanced green fluorescent protein (EGFP) expression were observed in the replication-defective adenovirus Ad-EGFP in diverse cancer cell lines, HXO-RB44, Y79, Hep3B, NCIH460, MCF-7 and HLF. | NA | {
"id": 2034,
"name": "EPAS1",
"pos": [
231,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
141,
10
]
} |
Further surface markers of monocytes found to be associated with cardiovascular diseases are CD18, CD11b, CXCR1, CD36 and STAB1. | NA | {
"id": 23166,
"name": "STAB1",
"pos": [
122,
5
]
} | {
"id": "C0007222",
"name": "Cardiovascular Diseases",
"pos": [
65,
23
]
} |
However, there is still no biochemical evidence indicating that GPC3 plays such a role.Here, we report that GPC3-deficient mice exhibit several of the clinical features observed in SGBS patients, including developmental overgrowth, perinatal death, cystic and dyplastic kidneys, and abnormal lung development. | NA | {
"id": 2719,
"name": "GPC3",
"pos": [
108,
4
]
} | {
"id": "C0701826",
"name": "Perinatal death",
"pos": [
232,
15
]
} |
Expression of NTS/NTSR1 on breast tumoral cells creates a cellular context associated with cancer aggressiveness by enhancing epidermal growth factor receptor activity. | NA | {
"id": 4922,
"name": "NTS",
"pos": [
14,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
98,
14
]
} |
MTHFR 677T, MTRR 66A, GCPII 1561T, male gender, alcohol intake, smoking, diabetes, creatinine and hypertension were found to influence tHcy. | NA | {
"id": 2346,
"name": "FOLH1",
"pos": [
22,
5
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
48,
14
]
} |
Using immunohistochemistry, expression of the PLAG1 protein was also demonstrated in tissue sections from two lipoblastomas, one of which had a t(3;8)(q13.1;q12) translocation and the other a t(1;6)(q42;p22) translocation. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
203,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
208,
13
]
} |
The findings suggest that serum CC16 may be a useful biomarker of epithelial lung damage in individuals with arsenical skin lesions. | NA | {
"id": 7356,
"name": "SCGB1A1",
"pos": [
32,
4
]
} | {
"id": "C0037284",
"name": "Skin lesion",
"pos": [
119,
12
]
} |
52 symptomatic (SPB) and 64 asymptomatic (APB) pigeon breeders were investigated for the HLA-A, -B, -C, -DR; C2, C3, C4 and Bf systems, and C3, C4 and factor B serum concentrations. | NA | {
"id": 6051,
"name": "RNPEP",
"pos": [
42,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
28,
12
]
} |
Mutations in TPM3, encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. | genomic_alterations | {
"id": 7170,
"name": "TPM3",
"pos": [
13,
4
]
} | {
"id": "C0151786",
"name": "Muscle Weakness",
"pos": [
125,
15
]
} |
The RNA binding protein RNPS1 alleviates ASF/SF2 depletion-induced genomic instability. | NA | {
"id": 6426,
"name": "SRSF1",
"pos": [
45,
3
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
67,
19
]
} |
Here, we found that hypoxia-inducing factor-1alpha (HIF-1alpha) protein, but not mRNA, expression was significantly elevated in gastric cancer cells overexpressing Cyr61. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
52,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
20,
7
]
} |
Here, we show the presence of a post-transcriptional mechanism by examining promoter hypermethylation, mRNA expression levels and immunoreactivity of BRCA1 in sporadic human breast cancers Paired samples of 20 invasive ductal carcinomas and one invasive lobular carcinoma were obtained from sporadic breast cancer cases. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
150,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
159,
8
]
} |
A case of acute myelogenous leukaemia characterised by the BCR-FGFR1 translocation. | NA | {
"id": 613,
"name": "BCR",
"pos": [
59,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
69,
13
]
} |
Ingenuity pathway analysis inferred that the nodal point in this cross-talk was Down syndrome critical region 1 (DSCR1). | genomic_alterations | {
"id": 1827,
"name": "RCAN1",
"pos": [
113,
5
]
} | {
"id": "C1860787",
"name": "DOWN SYNDROME CRITICAL REGION",
"pos": [
80,
29
]
} |
We recently reported that the pathogenesis of pemphigus vulgaris (PV), an autoimmune blistering skin disorder, is driven by the accumulation of c-Myc secondary to abrogation of plakoglobin (PG)-mediated transcriptional c-Myc suppression. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
144,
5
]
} | {
"id": "C0037274",
"name": "Dermatologic disorders",
"pos": [
96,
13
]
} |
Plasma fluorescence scanning was assessed in 679 patients (205 with VP who were carriers of a PPOX mutation, either with disease symptoms or asymptomatic) and fecal analysis in 473 (190 with VP). | NA | {
"id": 3060,
"name": "HCRT",
"pos": [
94,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
141,
12
]
} |
Following mutations in BRAF and NRAS, the RAC1 c.85C>T single-nucleotide variant (SNV) encoding P29S amino acid change represents the next most frequently observed protein-coding hotspot mutation in melanoma. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
32,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
202,
8
]
} |
Using immunocytochemical methods, the present study demonstrate that neurones in patients with HIV type 1 encephalitis and progressive encephalopathy, as well as macrophages and microglia, but not astrocytes, overexpress caspase-3, a pro-apoptotic enzyme that is proteolytically activated downstream of Bax-Bcl-2 dysregulation. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
307,
5
]
} | {
"id": "C1838578",
"name": "Progressive encephalopathy",
"pos": [
123,
26
]
} |
CD74 and MIF have been associated with tumor progression and metastasis in hematologic and solid tumors. | NA | {
"id": 268,
"name": "AMH",
"pos": [
9,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
61,
10
]
} |
Therefore, the present study was aimed at testing the association of endometriosis with the PTPN22/LYP 1858C> T gene polymorphism, which appears to be related to the development of a variety of autoimmune disorders. | NA | {
"id": 6862,
"name": "TBXT",
"pos": [
110,
6
]
} | {
"id": "C0014175",
"name": "Endometriosis",
"pos": [
69,
13
]
} |
One such small molecule drug Nutlin binds the protein MDM2, which is upregulated in several types of cancer and is a negative regulator of the tumor suppressor protein p53. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
168,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
101,
6
]
} |
In conclusion, our results argue against the hypothesis of transcriptional dysregulation in DYT1 dystonia, suggesting potential alternative pathogenic pathways. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
92,
4
]
} | {
"id": "C0013421",
"name": "Dystonia",
"pos": [
97,
8
]
} |
Beta-catenin and gamma-catenin compete for the same binding site on the E-cadherin cytoplasmic tail, directly linking the adhesion complex to the cytoskeleton through alpha-catenin. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
0,
12
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
122,
8
]
} |
Rate of Cough During Treatment With Angiotensin-Converting Enzyme Inhibitors: A Meta-Analysis of Randomized Placebo-Controlled Trials. | genomic_alterations | {
"id": 1636,
"name": "ACE",
"pos": [
36,
29
]
} | {
"id": "C0010200",
"name": "Coughing",
"pos": [
8,
5
]
} |
We hypothesized that local expression of IL-4 and/or IL-13 might act by inducing germline IgE heavy chain transcript expression locally in the sinus mucosa of chronic sinusitis patients. | NA | {
"id": 6520,
"name": "SLC3A2",
"pos": [
94,
11
]
} | {
"id": "C0149516",
"name": "Chronic sinusitis",
"pos": [
159,
17
]
} |
However, neither Rab9A nor Rab23 were localized to starvation-induced autophagosomes. | NA | {
"id": 51715,
"name": "RAB23",
"pos": [
27,
5
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
51,
10
]
} |
Though these analogs are not superior than D22 in discriminating among OCTs/PMAT, our findings point to development of compounds with combined ability to inhibit both low-affinity/high-capacity transporters, such as OCT3, and high-affinity/low-capacity transporters, such as SERT, as therapeutics with potentially improved efficacy for treatment of psychiatric disorders. | biomarker | {
"id": 5460,
"name": "POU5F1",
"pos": [
216,
4
]
} | {
"id": "C0233514",
"name": "Abnormal behavior",
"pos": [
349,
21
]
} |
An immunohistochemical analysis of EPOR was performed on 30 PCa, 50 BPH with/without inflammation lesions and 30 normal prostatic tissue samples. | NA | {
"id": 2057,
"name": "EPOR",
"pos": [
36,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
86,
12
]
} |
Intravenous delivery of mesenchymal stromal cell-derived exosomes (MEX) inhibited vascular remodeling and hypoxic pulmonary hypertension, whereas MEX-depleted media or fibroblast-derived exosomes had no effect. | NA | {
"id": 151112,
"name": "ZSWIM2",
"pos": [
146,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
106,
7
]
} |
In addition, patients with CT genotype and CT+TT genotype combination of MYNN SNP have a decreased risk for bladder cancer. | genomic_alterations | {
"id": 55892,
"name": "MYNN",
"pos": [
73,
4
]
} | {
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
108,
14
]
} |
Subsets and Splits