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|---|---|---|---|
Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman. | genomic_alterations | {
"id": 23522,
"name": "KAT6B",
"pos": [
15,
5
]
} | {
"id": "C0042133",
"name": "Uterine Fibroids",
"pos": [
0,
9
]
} |
Autoantibodies to phospholipids (APA) occur frequently in systemic lupus erythematosus (SLE) and other autoimmune disorders and predispose to intravascular thromboses. | NA | {
"id": 2028,
"name": "ENPEP",
"pos": [
33,
3
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
58,
28
]
} |
Celiac disease (CD) is an enteropathy characterized by a Th1-type immune response to the dietary gluten. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
57,
3
]
} | {
"id": "C0021831",
"name": "Intestinal Diseases",
"pos": [
26,
11
]
} |
We have designed a targeted systemic suicide gene therapy that combines the advantages of tumor-selective gene expression, using the human telomerase promoter (hTERT), with the beneficial effects of an oncolytic adenovirus to deliver the gene for the prodrug-activating enzyme carboxypeptidase G2 (CPG2) to tumors. | NA | {
"id": 23345,
"name": "SYNE1",
"pos": [
298,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
212,
10
]
} |
This study was designed to investigate the effects of adrenocorticotropic hormone (ACTH) on systolic blood pressure (BP) and serum erythropoietin (EPO) concentrations in two strains of rats. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
83,
4
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
101,
14
]
} |
CSF AVP concentration also significantly differentiates individual cases from controls and is associated with greater social symptom severity in children with autism. | biomarker | {
"id": 3918,
"name": "LAMC2",
"pos": [
0,
3
]
} | {
"id": "C0004352",
"name": "Autistic Disorder",
"pos": [
159,
6
]
} |
Our results suggest that ROS act as a negative feedback to constrain IL-1β-mediated inflammation, accounting for the more severe arthritis in the absence of NOX2. | NA | {
"id": 1536,
"name": "CYBB",
"pos": [
157,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
84,
12
]
} |
The MC4R mutations were found in three male (one obese and two overweight) and two female subjects (one obese and one overweight). | NA | {
"id": 4160,
"name": "MC4R",
"pos": [
4,
4
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
118,
10
]
} |
On multivariable analysis, increased AMC (>10 × 10(9)/l, relative risk (RR) 2.5, 95% confidence interval (CI) 1.7-3.8), presence of circulating IMC (RR 2.0, 95% CI 1.4-2.7), decreased hemoglobin (<10 g/dl, RR 1.6, 99% CI 1.2-2.2) and decreased platelet count (<100 × 10(9)/l, RR 1.4, 99% CI 1.0-1.9) remained significant. | NA | {
"id": 261,
"name": "AMCN",
"pos": [
37,
3
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
184,
10
]
} |
Multivariate analysis revealed that galectin-9 status influenced distant metastasis independently of and to a greater extent than lymph node metastasis. | biomarker | {
"id": 3965,
"name": "LGALS9",
"pos": [
36,
10
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
130,
21
]
} |
Polymorphisms of the CD14 gene and atopic phenotypes in Czech patients with IgE-mediated allergy. | NA | {
"id": 929,
"name": "CD14",
"pos": [
21,
9
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
35,
6
]
} |
Association of TERT-CLPTM1L and 8q24 Common Genetic Variants with Gallbladder Cancer Susceptibility and Prognosis in North Indian Population. | genomic_alterations | {
"id": 81037,
"name": "CLPTM1L",
"pos": [
20,
7
]
} | {
"id": "C4525302",
"name": "Stage III Gallbladder Cancer AJCC v8",
"pos": [
66,
18
]
} |
These are reflected in altered circadian rhythm of circulating serum cortisol, melatonin and IL-6 levels and in chronic fatigue. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
93,
4
]
} | {
"id": "C0518656",
"name": "Chronic fatigue",
"pos": [
112,
15
]
} |
Rats with DCM showed declined systolic myocardial performance associated with myocardial hypertrophy and fibrosis, which were accompanied with metabolism abnormalities, aberrant myocardial enzymes, increased AGEs (advanced glycation end products) accumulation and RAGE (receptor for AGEs) expression, elevated markers of oxidative stress (MDA, SOD, the ratio of NADP(+)/NADPH, Rac1 activity, NADPH oxidase subunits expression of gp91(phox) and p47(phox) ), raised inflammatory factor (TNF-α and IL-1β), enhanced apoptotic cell death (ratio of bax/bcl-2, caspase-3 activity and TUNEL), diminished Akt and GSK-3β phosphorylation. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
547,
5
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
89,
11
]
} |
Duplication of the short arm of chromosome 5 [dup(5)(p13.1p15.3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal malformations, limb abnormalities, and mental retardation. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
53,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
157,
13
]
} |
We have identified a sporadic parkinsonian syndrome characterised by bradykinesia, a variable response to levodopa, and a mean duration of disease of 9 years, which resembles bodig (Parkinson's-dementia of Guam), and histologically has close similarities with both PSP and postencephalitic parkinsonism. | biomarker | {
"id": 140683,
"name": "BPIFA2",
"pos": [
265,
3
]
} | {
"id": "C0497327",
"name": "Dementia",
"pos": [
194,
8
]
} |
Moreover, IM-9-P PRL is biologically active in the rat Nb2 lymphoma mitogenic assay. | NA | {
"id": 53942,
"name": "CNTN5",
"pos": [
55,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
59,
8
]
} |
Specifically, this article will focus on the following aspects: (1) pathological and molecular features of epithelioid hemangioendothelioma, including the more common WWTR1-CAMTA1 fusion, as well as the recently described YAP1-TFE3 fusion, identified in a morphological variant of epithelioid hemangioendothelioma; (2) discuss the heterogeneity of angiosarcoma clinical, morphological and genetic spectrum, with particular emphasis of MYC and FLT4 gene amplification in radiation-induced angiosarcoma; and (3) provide a practical guide in the differential diagnosis of epithelioid vascular tumors using molecular testing. | genomic_alterations | {
"id": 4609,
"name": "MYC",
"pos": [
435,
3
]
} | {
"id": "C3900104",
"name": "Adult Epithelioid Hemangioendothelioma",
"pos": [
281,
32
]
} |
Cox proportional hazards model and backward stepwise elimination were used to compute hazard ratio (HR) of deaths according to CDK8 status, initially adjusted for various patient and molecular features, including beta-catenin, p53, p21, p27 (CDK inhibitors), cyclin D1, fatty acid synthase (FASN), cyclooxygenase-2 (COX-2), microsatellite instability (MSI), CpG island methylator phenotype (CIMP), LINE-1 methylation, and mutations in KRAS, BRAF and PIK3CA. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
450,
6
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
324,
26
]
} |
Aim of this study was to test the effect of IFNγ on the basal and TNFα-stimulated secretion of CXCL8 in TCP-1 and BCPAP thyroid cancer cell lines (harboring RET/PTC rearrangement and BRAF V600e mutation, resp.). | biomarker | {
"id": 6950,
"name": "TCP1",
"pos": [
104,
5
]
} | {
"id": "C0007115",
"name": "Malignant neoplasm of thyroid",
"pos": [
120,
14
]
} |
By analogy with SMAD4, CDX2 is also a candidate for somatic mutation in sporadic colorectal cancer. | NA | {
"id": 4089,
"name": "SMAD4",
"pos": [
16,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
72,
8
]
} |
We analyzed the expression of LOXL2, LOXL3, and LOXL4 in cancers involving the serosal cavities-breast carcinoma, ovarian carcinoma, and malignant mesothelioma using reverse-transcriptase polymerase chain reaction. | NA | {
"id": 84695,
"name": "LOXL3",
"pos": [
37,
5
]
} | {
"id": "C0011334",
"name": "Dental caries",
"pos": [
87,
8
]
} |
We show that DISC1 interacts with the UCR2 domain of PDE4B and that elevation of cellular cAMP leads to dissociation of PDE4B from DISC1 and an increase in PDE4B activity. | NA | {
"id": 5142,
"name": "PDE4B",
"pos": [
156,
5
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
104,
12
]
} |
Association of CYP1A1 rs1048943 variant with aggressive periodontitis and its interaction with hyperlipidemia on the periodontal status. | genomic_alterations | {
"id": 1543,
"name": "CYP1A1",
"pos": [
15,
6
]
} | {
"id": "C0031106",
"name": "Aggressive Periodontitis",
"pos": [
45,
24
]
} |
Overall, we suggest that miR-31 functions as a tumor suppressor by selectively regulating cell cycle and EMT regulatory proteins in human hepatocarcinogenesis providing a novel target for the molecular treatment of liver malignancies. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
105,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
138,
20
]
} |
Our results demonstrate that genomic instability resulting from XPC silencing results in activation of AKT1 and subsequently NOX1 to induce ROS generation, mtDNA deletions, and neoplastic transformation in human keratinocytes. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
103,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
177,
25
]
} |
MTBP associated with MYC at promoters and increased MYC-mediated transcription, proliferation, neoplastic transformation, and tumor development. | NA | {
"id": 27085,
"name": "MTBP",
"pos": [
0,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
95,
25
]
} |
We present a case of aCML with a 3q22;21q22-translocation that led to truncation of the receptor-like tyrosine kinase (RYK) gene and its juxtaposition with sequences from chromosome 21 including the ATP5O gene coding for a mitochondrial ATP synthase. | NA | {
"id": 6259,
"name": "RYK",
"pos": [
119,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
44,
13
]
} |
These results suggest that endogenous ANP and BNP play important roles in reparative vascular remodeling in ischemic tissue. | NA | {
"id": 4879,
"name": "NPPB",
"pos": [
46,
3
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
85,
19
]
} |
The present study analyses the inter-relationship between the expression of representatives of the anti-apoptotic (Bcl-2, Bcl-XL) or pro-apoptotic (Bax) Bcl-2 proteins, incidence of apoptosis, and mitosis in a selected small group of 22 graded RCCs that had paired normal renal tissue, or non-neoplastic tissue in the renal biopsy specimen. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
153,
5
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
289,
14
]
} |
Here, we show that co-deletion of Ptprd and Cdkn2a cooperate to accelerate tumorigenesis. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
44,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
75,
13
]
} |
Seven compounds were further examined against the most sensitive cell lines, leukemia HL-60(TB) and MOLT-4. | genomic_alterations | {
"id": 121256,
"name": "TMEM132D",
"pos": [
100,
4
]
} | {
"id": "C1332977",
"name": "Childhood Leukemia",
"pos": [
77,
8
]
} |
BMP15 "knockout-like" effect in familial premature ovarian insufficiency with persistent ovarian reserve. | biomarker | {
"id": 9210,
"name": "BMP15",
"pos": [
0,
5
]
} | {
"id": "C1611743",
"name": "Familial (FPAH)",
"pos": [
32,
8
]
} |
In this study, we found that Arid2-IR was increased in mice with high-fat diet and streptozotocin-induced type 2 diabetes and in mouse mesangial cells cultured with high glucose to mimic diabetes. | biomarker | {
"id": 196528,
"name": "ARID2",
"pos": [
29,
5
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
106,
15
]
} |
The urinary excretion of TRX increased transiently after ischemia/reperfusion and recovered to the control level in 72 hours. | NA | {
"id": 7295,
"name": "TXN",
"pos": [
25,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
57,
8
]
} |
Patient investigations have confirmed these abnormalities and revealed a wide spectrum of disease expression, sometimes associated with residual LEKTI expression. | NA | {
"id": 11005,
"name": "SPINK5",
"pos": [
145,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
44,
13
]
} |
E-cadherin, a M(r) 120,000 transmembrane glycoprotein, mediates calcium-dependent intercellular adhesion that is essential for normal tissue homeostasis. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
0,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
96,
8
]
} |
The present study was designed to investigate the role of HIF-1α in mild hypoxia-induced cardiomyocytes hypertrophy and its underlying mechanism. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
58,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
73,
7
]
} |
We report two cases of hematological malignancies, comprising a case of myelodysplastic syndrome (MDS) that rapidly evolved into acute myeloid leukemia, and a case of myeloproliferative disorder (MPD), in which der(1;18)(q10;q10) was found as the sole acquired karyotypic abnormality. | NA | {
"id": 27161,
"name": "AGO2",
"pos": [
225,
3
]
} | {
"id": "C1292778",
"name": "Chronic myeloproliferative disorder",
"pos": [
167,
27
]
} |
By profiling 108 colorectal samples using exon arrays, we identified nine genes (TCF12, OSBPL1A, TRAK1, ANK3, CHEK1, UGP2, LMO7, ACSL5, and SCIN) showing tumor-specific alternative TSS usage in both adenoma and cancer samples relative to normal mucosa. | NA | {
"id": 114876,
"name": "OSBPL1A",
"pos": [
88,
7
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
199,
7
]
} |
Poly (ADP) ribose polymerase (PARP) inhibitors, first evaluated nearly a decade ago, are primarily used in malignancies with known defects in DNA repair genes, such as alterations in breast cancer, early onset 1/2 (BRCA1/2). | NA | {
"id": 23038,
"name": "WDTC1",
"pos": [
6,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
107,
12
]
} |
Taken together the results indicate that in the absence of the G1 checkpoint, mitotic catastrophe occurs in these p53-null cells predominantly as a result of mechanical disruption induced by centrosome overduplication, and not as a consequence of a suicide signal. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
114,
3
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
249,
7
]
} |
Aspects of the bacterial challenge to the gingival tissues, such as the amount of plaque deposits and plaque accumulation rate, appear to affect the IL-1 beta levels in GCF in subjects with a specific IL-1B genotype. | NA | {
"id": 3553,
"name": "IL1B",
"pos": [
201,
5
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
102,
6
]
} |
Eighty-nine paired needle biopsy specimens (NBX) and radical prostatectomy (RPX) specimens from patients with early clinical stage (A2-B2) prostate cancer were evaluated for DNA content by image analysis of Feulgen stained tissue sections. | NA | {
"id": 8820,
"name": "HESX1",
"pos": [
76,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
139,
15
]
} |
Taken together, our results suggest that eIF3i is induced by HIF1A under hypoxia and controls normal and tumorigenic angiogenesis through regulating VEGFA protein translation. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
61,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
73,
7
]
} |
By multivariate analysis, IgM peaks were associated with shorter treatment-free survival independently from any other univariate poor prognosis biological parameters, including IgG peaks, Hypo-γ, IGHV status, SF3B1 mutations, cytogenetics and lymphocytosis. | NA | {
"id": 23451,
"name": "SF3B1",
"pos": [
209,
5
]
} | {
"id": "C0024282",
"name": "Lymphocytosis",
"pos": [
243,
13
]
} |
Ketoconazole suppresses interleukin-4 plus anti-CD40-induced IgE class switching in surface IgE negative B cells from patients with atopic dermatitis. | biomarker | {
"id": 958,
"name": "CD40",
"pos": [
48,
4
]
} | {
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
132,
17
]
} |
In vivo studies on xenografts of pancreatic adenocarcinoma cells in nude mice showed that the association of TSA and GEM reduced to 50% the tumour mass and did not cause any apparent form of toxicity, while treatments with TSA or GEM alone were ineffective. | NA | {
"id": 7001,
"name": "PRDX2",
"pos": [
223,
3
]
} | {
"id": "C0281361",
"name": "Adenocarcinoma of pancreas",
"pos": [
33,
25
]
} |
Immunolocalization of CD163+ Tumor-Associated Macrophages and Symmetric Proliferation of Ki-67 as Biomarkers to Differentiate New Different Grades of Laryngeal Dysplasia. | biomarker | {
"id": 9332,
"name": "CD163",
"pos": [
22,
5
]
} | {
"id": "C0585955",
"name": "Dysplasia of larynx",
"pos": [
150,
19
]
} |
Hotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. | genomic_alterations | {
"id": 7015,
"name": "TERT",
"pos": [
90,
4
]
} | {
"id": "C0037286",
"name": "Skin Neoplasms",
"pos": [
209,
14
]
} |
Circulating TNFR-1 and TNFR-2 are independently associated with higher risk of renal disease progression, CVD events, and mortality in patients with diabetes and might contribute to the clinical risk assessment in the future. | genomic_alterations | {
"id": 7132,
"name": "TNFRSF1A",
"pos": [
12,
6
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
149,
8
]
} |
However, the male who received the infusion of 35 U/kg body weight of Humate-P achieved a normal FVIII level that was maintained for 12 hours. | NA | {
"id": 2157,
"name": "F8",
"pos": [
97,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
55,
11
]
} |
The functional relevance of p53, p21CIP/WAF-1 and Bax was investigated in isogeneic HCT116 cell mutants treated with 5-FU, IR and heat shock. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
28,
3
]
} | {
"id": "C0036974",
"name": "Shock",
"pos": [
135,
5
]
} |
In both daughter and mother, fluorescence in situ hybridization (FISH), together with data from G banding, identified the breakpoints in Xp22.1-3 and Xq26, resulting in a partial trisomy of the terminal region of Xq (Xq26-qter) and a monosomy of the pseudoautosomal region (Xp22.3) with the SHOX gene and the proximal region Xp22.1-3, including the steroidsulfatase gene (STS) and the Kallmann syndrome region. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
65,
4
]
} | {
"id": "C1297882",
"name": "Partial Trisomy",
"pos": [
171,
15
]
} |
To better understand LRRK2-linked PD pathogenesis in vivo, we have generated transgenic C. elegans overexpressing human LRRK2 wild type, R1441C and G2019S in dopaminergic (DA) neurons. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
21,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
34,
2
]
} |
Statistical significance was achieved, despite the relatively small number of patients with BRAF and MEK1 mutations reported here, for polyhydramnios, growth hormone deficiency and the presence of more than one papilloma, which were less common in CFC compared to HRAS mutation positive patients. | NA | {
"id": 5604,
"name": "MAP2K1",
"pos": [
101,
4
]
} | {
"id": "C0030354",
"name": "Papilloma",
"pos": [
211,
9
]
} |
Although the importance of Rac1/Cdc42 activation is well documented in cancer aggressiveness, the clinical importance of GIT1 remains largely unknown. | NA | {
"id": 998,
"name": "CDC42",
"pos": [
32,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
78,
14
]
} |
Additional studies in non-small-cell lung cancer have suggested that the k-ras mutation may be a negative predictor of response to the EGF receptor tyrosine kinase inhibitors erlotinib and gefitinib. | genomic_alterations | {
"id": 1950,
"name": "EGF",
"pos": [
135,
3
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
22,
26
]
} |
N-ras mutation: an independent prognostic factor for aggressiveness of papillary thyroid carcinoma. | NA | {
"id": 4893,
"name": "NRAS",
"pos": [
0,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
53,
14
]
} |
Thus, our procedure identified at least one allelic variant of ATM associated with breast cancer, and indicated that the ATM locus may interact with HRAS1. | genomic_alterations | {
"id": 472,
"name": "ATM",
"pos": [
63,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
83,
13
]
} |
Blocking CXCR4 and CXCL12 function may provide a novel therapeutic method for controlling systemic inflammation and tissue injury in sepsis. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
9,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
99,
12
]
} |
They suggest that, at least in part, the effect of the IL-6 -174G>C polymorphism on blood pressure is likely to be operating through inflammatory mechanisms, but the genotype effect on coronary heart disease risk is largely unexplained by its effect on blood pressure. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
55,
4
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
253,
14
]
} |
In an attempt to prevent hematogenous metastasis through the inhibition of a shear-resistant adhesion of CD44(+) cancer cells to E-selectin-expressing blood vessels on the premetastatic niche, an E-selectin targeted aptamer (ESTA) was developed. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
196,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
93,
8
]
} |
Several mechanisms leading to overexpression of cyclin D1 have been reported including amplification, translocation and stabilization of the mRNA. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
48,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
102,
13
]
} |
Calcium Independent Effect of Orai1 and STIM1 in Non-Hodgkin B Cell Lymphoma Dissemination. | biomarker | {
"id": 84876,
"name": "ORAI1",
"pos": [
30,
5
]
} | {
"id": "C0079731",
"name": "B-Cell Lymphomas",
"pos": [
49,
27
]
} |
Here we demonstrate that CHCHD7-PLAG1 is a novel and recurrent gene fusion generated by a cytogenetically cryptic rearrangement in pleomorphic adenomas. | biomarker | {
"id": 79145,
"name": "CHCHD7",
"pos": [
25,
6
]
} | {
"id": "C0026277",
"name": "Mixed Salivary Gland Tumor",
"pos": [
131,
20
]
} |
Overall result suggests that PI-103 attenuates PI3K-AKT signaling via induction of apoptosis in murine T-cell lymphoma. | biomarker | {
"id": 5294,
"name": "PIK3CG",
"pos": [
47,
4
]
} | {
"id": "C0079772",
"name": "T-Cell Lymphoma",
"pos": [
103,
15
]
} |
In the present study, protective efficacy of EAPP on tumor formation and the infiltrations of monocytes and macrophages in colons of an AOM/DSS mouse model were evaluated. | NA | {
"id": 55837,
"name": "EAPP",
"pos": [
45,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
53,
5
]
} |
Genes significantly associated with systolic blood pressure and/or SLC in these families will be prioritized for future studies. | NA | {
"id": 6366,
"name": "CCL21",
"pos": [
67,
3
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
36,
23
]
} |
This study provides mechanistic insight into the oncogenic effects of PHD-associated mutations in MLL3 and suggests that restoration of a balanced state of Polycomb-COMPASS activity may have therapeutic efficacy in tumors that bear mutations in the genes encoding these epigenetic factors. | genomic_alterations | {
"id": 58508,
"name": "KMT2C",
"pos": [
98,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
215,
6
]
} |
Moreover, adhesion molecular vascular cell adhesion molecule-1 (VCAM-1) and intercellular adhesion molecule-1 (ICAM-1), acute phase reactant C-reactive protein (CRP), and proinflammatory cytokine interleukin-6 (IL-6) were significantly enhanced in CUS treated ApoE(-/-) mice compared with untreated control animals (P<0.01). | NA | {
"id": 3569,
"name": "IL6",
"pos": [
211,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
10,
8
]
} |
Taken together, our data suggest that therapeutic administration of hemopexin is beneficial to counteract heme-driven macrophage-mediated inflammation and its pathophysiologic consequences in sickle cell disease. | NA | {
"id": 3263,
"name": "HPX",
"pos": [
68,
9
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
138,
12
]
} |
The levels of hemoglobin (Hb), packed cell volume (PCV), mean corpuscular volume (MCV) and Hb A2/Hb E [β26(B8)Glu→Lys; HBB: c.79G>A] were measured using an automated blood counter and high performance liquid chromatography (HPLC), respectively. | NA | {
"id": 3043,
"name": "HBB",
"pos": [
119,
3
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
14,
10
]
} |
IMP3 expression and its prognostic value for patients with intrahepatic cholangiocarcinoma (ICC) have not been well investigated. | NA | {
"id": 10643,
"name": "IGF2BP3",
"pos": [
0,
4
]
} | {
"id": "C0345905",
"name": "Intrahepatic Cholangiocarcinoma",
"pos": [
59,
31
]
} |
More importantly, an increased correlation between SIAH2 expression and tumor grade was detected, suggesting that this protein could be used as a prognostic biomarker to predict lung cancer progression. | biomarker | {
"id": 6478,
"name": "SIAH2",
"pos": [
51,
5
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
178,
11
]
} |
Then, TGF-β acts in concert with mutant TP53 to promote HGS-OvCa metastasis by assembling a mutant-TP53/p63/Smads protein complex, in which p63's functions as metastasis suppressor are antagonized, and by enhancing the activities of the Slug/Snail and Twist families to drive induce EMT-like transition. | NA | {
"id": 9146,
"name": "HGS",
"pos": [
56,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
159,
10
]
} |
A relative excess of cancer of the cervix (SIR = 1.6, PIR = 2.1, p less than 0.05) was found among Native American females. | NA | {
"id": 8544,
"name": "PIR",
"pos": [
54,
3
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
21,
20
]
} |
Patients with HCC tumors that expressed S100P were more likely to have early tumor recurrence (ETR) (P = 0.0189) and lower 5-year survival (P = 0.0023). | NA | {
"id": 6286,
"name": "S100P",
"pos": [
40,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
18,
6
]
} |
We also found variants of SOX4 in lung primary tumours and cancer cell lines, including a somatic mutation that introduced a premature stop codon (S395X) at the serine-rich C-terminal domain. | genomic_alterations | {
"id": 6659,
"name": "SOX4",
"pos": [
26,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
59,
6
]
} |
GATA6 mutations are the most frequent cause of pancreatic agenesis and diabetes in human sporadic cases. | NA | {
"id": 2627,
"name": "GATA6",
"pos": [
0,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
89,
8
]
} |
Here, we provide genetic evidence that NMT is likely to be essential for viability in insect stages of the pathogenic protozoan parasite, Leishmania donovani, causative agent of the tropical infectious disease, visceral leishmaniasis. | NA | {
"id": 4836,
"name": "NMT1",
"pos": [
39,
3
]
} | {
"id": "C0023290",
"name": "Leishmaniasis, Visceral",
"pos": [
211,
22
]
} |
We describe a case of dramatic tumor response to 50 mg erlotinib in a patient with EGFR mutation positive NSCLC who developed a severe rash on full dose erlotinib. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
83,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
31,
5
]
} |
There were no significant differences between the PKR score and tumor size, tumor invasion, capsular invasion, or lymph node metastasis. | NA | {
"id": 5610,
"name": "EIF2AK2",
"pos": [
50,
3
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
114,
21
]
} |
Oncogenic role of Gankyrin has been found to stem from inhibition of two ubiquitous tumour suppressor proteins, retinoblastoma protein (pRb) and P53, and also modulation of several vital cellular signalling pathways including Wnt/β-Catenin, NF-κB, STAT3/Akt, IL-1β/IRAK-1 and RhoA/ROCK. | biomarker | {
"id": 3654,
"name": "IRAK1",
"pos": [
265,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
84,
6
]
} |
Recently, our laboratory reported a polymorphism in the human NET (hNET) gene A457P in an individual with the autonomic disorder orthostatic intolerance (OI). | genomic_alterations | {
"id": 6530,
"name": "SLC6A2",
"pos": [
67,
4
]
} | {
"id": "C1145628",
"name": "Autonomic nervous system disorders",
"pos": [
110,
18
]
} |
Ectopic expression of Noxa in HT1080 fibrosarcoma cells enhanced cellular sensitivity to viral or dsRNA/actinomycin D-induced apoptosis, typified by enhanced cytochrome c release from the mitochondrial to the cytosolic fraction and increased cleavage of caspases 3 and 9. | NA | {
"id": 5366,
"name": "PMAIP1",
"pos": [
22,
4
]
} | {
"id": "C0016057",
"name": "Fibrosarcoma",
"pos": [
37,
12
]
} |
When a pancreas-targeted adeno-associated virus (AAV) vector was employed for long-term Glp-1 gene delivery, pancreatic GLP-1 expression protected mice from STZ-induced diabetes through preservation of the β-cell mass. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
49,
3
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
169,
8
]
} |
In a search for signaling molecules that act downstream of E-cadherin inactivation in cancer, we examined the expression and localization of E-cadherin-associated proteins in lobular carcinoma, in which the E-cadherin gene is frequently inactivated, and found that E-cadherin down-regulation correlated with the cytoplasmic localization of p120ctn. | NA | {
"id": 1500,
"name": "CTNND1",
"pos": [
340,
7
]
} | {
"id": "C0206692",
"name": "Carcinoma, Lobular",
"pos": [
175,
17
]
} |
We conclude that recombinant adenovirus-mediated siRNA targeting CD147 based on the IGF2 LOI system inhibited the growth of the LOI cells in vitro and in vivo, which would provide a novel approach for targeted CRC gene therapy. | NA | {
"id": 682,
"name": "BSG",
"pos": [
65,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
29,
10
]
} |
To assess possible hazards, we investigated the genotoxic effects of uranyl nitrilotriacetate (U-NTA) in human colon tumor cells (HT29 clone 19A), adenoma cells (LT97), and nontransformed primary colon cells. | NA | {
"id": 57823,
"name": "SLAMF7",
"pos": [
141,
3
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
147,
7
]
} |
PRO: In the past decade, genotyping has started to help the neurologic practitioner treat patients with three types of epilepsy causing mutations, namely (1) SCN1A, a sodium channel gene mutated in Dravet's sporadic severe myoclonic epilepsy of infancy (SMEI and SMEB); (2) laforin (dual specificity protein phosphatase) and malin (ubiquitin E3 ligase) in Lafora progressive myoclonic epilepsy (PME); and (3) cystatin B in Unverricht-Lundborg type of PME. | NA | {
"id": 1476,
"name": "CSTB",
"pos": [
409,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
207,
8
]
} |
These data show that, collectively, Bcl-2, Bcl-x(L) and Bcl-w have only minor roles in thymic lymphoma development elicited by defects in p53, and this may indicate that Mcl-1 and/or A1 may feature more prominently in this process. | NA | {
"id": 599,
"name": "BCL2L2",
"pos": [
56,
5
]
} | {
"id": "C1336745",
"name": "Thymic Lymphoma",
"pos": [
87,
15
]
} |
Four subgroups of cases were studied: (i) all CRCs; (ii) a molecular CRC subgroup (n = 117, cases with molecular tumor analyses); (iii) within the molecular subgroup those tumors with K-ras mutations in codon 12 (CRC K12); (iv) within the molecular subgroup those tumors with K-ras mutations in codon 13 (CRC K13). | NA | {
"id": 3755,
"name": "KCNG1",
"pos": [
309,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
264,
6
]
} |
Nuclear translocation of X-linked inhibitor of apoptosis (XIAP) determines cell fate after hypoxia ischemia in neonatal brain. | NA | {
"id": 331,
"name": "XIAP",
"pos": [
58,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
99,
8
]
} |
PEX1 mutation was delineated to be the genetic cause of PBD in the most highest incidence group, CG-E (the same as CG-I). | genomic_alterations | {
"id": 54566,
"name": "EPB41L4B",
"pos": [
115,
4
]
} | {
"id": "C1832200",
"name": "Peroxisome biogenesis disorders",
"pos": [
56,
3
]
} |
Low BIK outside-inside-out interactive inflammation immune-induced transcription-dependent apoptosis through FUT3-PMM2-SQSTM1-SFN-ZNF384. | NA | {
"id": 25996,
"name": "REXO2",
"pos": [
126,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
39,
12
]
} |
It also suppressed the accumulation of HIF-1alpha in the nuclei under hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
39,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
70,
7
]
} |
The E-cadherin concentration measured by enzyme immunoassay was significantly higher in the endometrium and myometrium of patients with adenomyosis than in the controls. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
4,
10
]
} | {
"id": "C0341858",
"name": "Endometriosis of uterus",
"pos": [
136,
11
]
} |
Here, by using in situ chromosomal hybridization, we have mapped the p53 gene to human chromosome 17, at bands 17q21-q22, the region containing one of the breakpoints in the translocation t(15;17) (q22;q21) associated with acute promyelocytic leukaemia (APL). | NA | {
"id": 7157,
"name": "TP53",
"pos": [
69,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
174,
13
]
} |
Sixteen different MEN1 gene mutations in the 51 sporadic gastrinomas (31%) were identified (11 truncating, 4 missense, and 1 in-frame deletion). | NA | {
"id": 4221,
"name": "MEN1",
"pos": [
18,
9
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
48,
8
]
} |
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