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|---|---|---|---|
Rapid screening of specific changes in mRNA in thyroid carcinomas by sequence specific-differential display: decreased expression of acid ceramidase mRNA in malignant and benign thyroid tumors. | NA | {
"id": 427,
"name": "ASAH1",
"pos": [
133,
15
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
55,
10
]
} |
The translocation t(16;21)(p11;q22) is rare, occurs with an incidence of 1%, in acute myeloid leukemia (AML), forming TLS/FUS-ERG fusion transcript, and it is known to cause the hemophagocytosis and vacuolation of leukemic cells. | NA | {
"id": 2521,
"name": "FUS",
"pos": [
122,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
13
]
} |
The chromosome 11 abnormalities comprised trisomy 11 (2 patients), monosomy 11 (1 patient), del(11)(q23) (2 patients), add(11)(p15) (1 patient), and der(11) t(3;11)(p21;q23) (1 patient). | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
165,
3
]
} | {
"id": "C0432409",
"name": "Trisomy 11",
"pos": [
42,
10
]
} |
The roles of TFAP2C in mammary gland tumorigenesis and in pathways critical to cancer progression remain poorly understood. | NA | {
"id": 7022,
"name": "TFAP2C",
"pos": [
13,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
37,
13
]
} |
The present study was designed to explore the role of RPS13 in tumorigenesis and development of gastric cancer. | biomarker | {
"id": 6207,
"name": "RPS13",
"pos": [
54,
5
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
63,
13
]
} |
There is also growing evidence for the role of DRD1, NMDA receptor genes (GRIN1, GRIN2A, GRIN2B), brain-derived neurotrophic factor (BDNF), and dopamine transporter (SLC6A3) in both schizophrenia and bipolar disorder. | NA | {
"id": 114787,
"name": "GPRIN1",
"pos": [
74,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
182,
13
]
} |
Therefore, the apelin/apelin receptor signalling nexus may operate as a paracrine signal that sustains tumour cell expansion and progression, suggesting that apelin is a druggable factor in glioblastoma. | biomarker | {
"id": 8862,
"name": "APLN",
"pos": [
158,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
103,
6
]
} |
Although mortality and infarct size were similar in the two groups, CRP-Tg mice showed more LV dilation and worse LV function with more prominent cardiomyocyte hypertrophy and fibrosis in the noninfarcted regions after MI than controls. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
68,
3
]
} | {
"id": "C4227331",
"name": "Cardiomyocyte hypertrophy",
"pos": [
146,
25
]
} |
Lack of class II transactivator causes severe deficiency of HLA-DR expression in small cell lung cancer. | NA | {
"id": 4261,
"name": "CIITA",
"pos": [
8,
23
]
} | {
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
81,
22
]
} |
Here, we studied the biological effects of IL-21 in mantle cell lymphoma (MCL). | NA | {
"id": 27189,
"name": "IL17C",
"pos": [
43,
5
]
} | {
"id": "C4721414",
"name": "Mantle cell lymphoma",
"pos": [
52,
20
]
} |
Long pentraxin-3 (PTX3) interacts with FGF2, and other FGF family members, inhibiting FGF-dependent neovascularization and tumor growth. | NA | {
"id": 5309,
"name": "PITX3",
"pos": [
18,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
100,
18
]
} |
MMTV-CDC25A transgenic mice exhibit alveolar hyperplasia in the mammary tissue but do not develop spontaneous mammary tumors. | NA | {
"id": 993,
"name": "CDC25A",
"pos": [
5,
6
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
45,
11
]
} |
This study clarifies the therapeutic effect of three treatments-quinapril, quinapril + hydrochlorothiazide (HCTZ), enalapril-on bone remodeling markers, bone mineral density (BMD) in hypertensive patients, and relationship with angiotensin converting enzyme (ACE) polymorphism. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
259,
3
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
153,
20
]
} |
High Content Imaging Assays for IL-6-Induced STAT3 Pathway Activation in Head and Neck Cancer Cell Lines. | biomarker | {
"id": 6774,
"name": "STAT3",
"pos": [
45,
5
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
73,
20
]
} |
Status epilepticus in the immature brain significantly induced translocation of Omi/HtrA2 from mitochondria into the cytosol, increased cytosolic accumulation of Omi/HtrA2, induced appearance of XIAP-breakdown products and enhanced caspase-3 activity in the selectively vulnerable hippocampal CA1-subfield. | NA | {
"id": 27429,
"name": "HTRA2",
"pos": [
166,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
63,
13
]
} |
The similar antitumoral, antiangiogenic efficacy of systemic overexpression of Ang-2, soluble VEGF receptor-1, and the combination of both suggests that concomitant VEGF inhibition is not required for Ang-2-induced tumor vessel regression and growth delay. | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
165,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
228,
10
]
} |
This review explores potential markers of early disease and prognosis in COPD by examining genetic markers in the alpha(1)-antitrypsin, cystic fibrosis transmembrane conductance regulator (CFTR), and MBL-2 genes, and by examining the biochemical markers fibrinogen and C-reactive protein (CRP), which correlate with degree of pulmonary inflammation during stable conditions of COPD. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
289,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
254,
10
]
} |
However, the tumor suppressive role of DUSP1 has yet to be clearly elucidated. | biomarker | {
"id": 1843,
"name": "DUSP1",
"pos": [
39,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
13,
5
]
} |
We evaluated the effects of the polymorphisms with body mass index (BMI), recent use of aspirin/NSAIDs and genetic variations in genes related to insulin signaling pathways including insulin-like growth factor 1 (IGF1), insulin-like growth factor binding protein 3 (IGFBP3), and insulin-related substrates 1 and 2 (IRS1, IRS2) and the vitamin D receptor (VDR). | NA | {
"id": 3667,
"name": "IRS1",
"pos": [
315,
4
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
51,
15
]
} |
Statistical analysis of gene expression data identified 3 genes (HSP110, HYOU1 and TCTP) significantly up-regulated in primary tumors of patients who developed lymph node metastasis. | NA | {
"id": 10808,
"name": "HSPH1",
"pos": [
65,
6
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
160,
21
]
} |
The restriction fragment length polymorphism of the two human HLA-B-associated transcripts (BATs) genes, BAT1 and BAT2, identifying polymorphic bands of 12, 8, 2.5, and 1.1 kb, and at 3.3, 2.7, 2.3, and 0.9 kb, respectively, was investigated in patients with primary biliary cirrhosis (PBC), systemic lupus erythematosus (SLE), pauciarticular juvenile rheumatoid arthritis (P-JRA), rheumatoid arthritis (RA), and primary Sjögren's syndrome (pSS), and in healthy Danes. | NA | {
"id": 7916,
"name": "PRRC2A",
"pos": [
114,
4
]
} | {
"id": "C0157917",
"name": "Pauciarticular juvenile rheumatoid arthritis",
"pos": [
328,
44
]
} |
In this study, genomic instability, cell proliferation, and cellular accumulation of mutant p53, as reflected by DNA aneuploidy, proliferating cell nuclear antigen, and p53 immunoreactivity, respectively, were evaluated in bronchial squamous metaplasia without atypia (n = 4), bronchial squamous metaplasia with low-grade atypia (n = 12), bronchial squamous metaplasia with high-grade atypia (n = 15), early-stage SCC (n = 15), and advanced-stage SCC (n = 33). | NA | {
"id": 7157,
"name": "TP53",
"pos": [
169,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
117,
10
]
} |
These changes could not be correlated with the 72 kDa collagenase IV or stromolysin activities using zymography, or the downregulation of the adhesion molecules E-cadherin or the alpha4 subunit of the alpha4beta1 integrin. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
161,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
142,
8
]
} |
Note that 100 mg daily was selected as the RP2D for glasdegib in combination with standard chemotherapies in the absence of an estimated MTD in this setting.<b>Conclusions:</b> Treatment with glasdegib in combination with standard chemotherapy was generally well-tolerated and consistent with prior findings, warranting further evaluation of glasdegib-based combinations in patients with AML or high-risk MDS.<i></i>. | biomarker | {
"id": 4493,
"name": "MT1E",
"pos": [
137,
3
]
} | {
"id": "C0265219",
"name": "Miller Dieker syndrome",
"pos": [
417,
3
]
} |
Conversely, urinary proteinuria in the established diabetic nephropathy was predicted by urinary L-PGDS excretions in the early stage of diabetes. | NA | {
"id": 5730,
"name": "PTGDS",
"pos": [
97,
6
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
20,
11
]
} |
Studies have shown that the receptor MET and its ligand hepatocyte growth factor play an important role in proliferation, migration, adhesion, and survival of MM cells. | NA | {
"id": 4233,
"name": "MET",
"pos": [
37,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
133,
8
]
} |
The discovery of the BRAF V600E mutation in most cases of classical hairy cell leukemia opens up unique opportunities for tumor specific treatment of HCL targeting the MEK/ERK signaling pathway. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
21,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
122,
5
]
} |
Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ inflammation in lupus. | NA | {
"id": 29851,
"name": "ICOS",
"pos": [
24,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
79,
12
]
} |
COPD patients with reversibility had increased sputum neutrophils, IL-8, and TNF-α levels compared to smoking asthmatics. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
67,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
102,
7
]
} |
The result has showed that there has a relatively higher frequency of autoantibody response to IMP2/p62 in colon cancer (23.4%, 15/64) compared to patients with colonic adenomas (4.8%, 2/42) and normal individuals (2.9%, 1/34). | biomarker | {
"id": 10644,
"name": "IGF2BP2",
"pos": [
95,
4
]
} | {
"id": "C0007102",
"name": "Malignant tumor of colon",
"pos": [
107,
12
]
} |
Hematologic toxicity such as neutropenia, thrombocytopenia, and anemia were not different by the three tSNPs or haplotypes (CGT, CAT, and CAC) of DCK. | NA | {
"id": 788,
"name": "SLC25A20",
"pos": [
138,
3
]
} | {
"id": "C0027947",
"name": "Neutropenia",
"pos": [
29,
11
]
} |
The resulting adenovirus-transduced DCs differentiated in the presence of monocyte-conditioned medium and poly [I] : poly [C], expressing the surface markers of mature DCs, including CD83, CD80, CD86 and HLA-DR. After maturation, the transduced DCs transcribed HCA661 mRNA and were able to prime the naïve T cells to become cytotoxic T lymphocytes (CTLs). | NA | {
"id": 942,
"name": "CD86",
"pos": [
195,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
14,
10
]
} |
The neuropathologic features of FAD associated with the APP717 mutation in this family include severe neuronal loss, abundant neurofibrillary tangles, amyloid plaques, and amyloid angiopathy. | NA | {
"id": 675,
"name": "BRCA2",
"pos": [
32,
3
]
} | {
"id": "C2931784",
"name": "Amyloid angiopathy",
"pos": [
172,
18
]
} |
In mice null for the EFNA1 receptor, EphA2, versus control animals, vascular endothelial growth factor receptor blockade and hypoxia caused more severe pulmonary hypertension, judged by elevated right ventricular systolic pressure, right ventricular hypertrophy, and loss of small arteries. | NA | {
"id": 1942,
"name": "EFNA1",
"pos": [
21,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
125,
7
]
} |
To date, knowledge on VHL genetic and epigenetic regulation is restricted to inactivating mutations and loss-of-heterozygosity in renal cell carcinomas. | genomic_alterations | {
"id": 7428,
"name": "VHL",
"pos": [
22,
3
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
130,
21
]
} |
NTE-MND resembles Troyer syndrome, except that short stature, cognitive impairment, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND. | NA | {
"id": 4907,
"name": "NT5E",
"pos": [
168,
3
]
} | {
"id": "C0013336",
"name": "Dwarfism",
"pos": [
47,
13
]
} |
PTEN expression is maintained in sporadic colorectal tumours. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
0,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
33,
8
]
} |
Mean plasma concentrations of IL-6, fibrinogen, and CRP in both PAD+ and PAD- patients were higher in those with the GG genotype than in those with the GC or CC genotypes. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
52,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
36,
10
]
} |
The COX-2 rs20417 polymorphism and risk of coronary artery disease: evidence from 17,621 subjects. | genomic_alterations | {
"id": 4513,
"name": "COX2",
"pos": [
4,
5
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
43,
23
]
} |
The discovery of FOXL2 may provide insight into the causes of idiopathic premature ovarian failure, a disease that burdens many infertile couples. | NA | {
"id": 668,
"name": "FOXL2",
"pos": [
17,
5
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
128,
9
]
} |
The mechanism of this up-regulation remains uncertain; polymorphisms in the HSD11B1 gene have been associated with metabolic complications of obesity, including hypertension and type 2 diabetes, but not with obesity per se. | genomic_alterations | {
"id": 3290,
"name": "HSD11B1",
"pos": [
76,
7
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
142,
7
]
} |
Pendred syndrome and non-syndromic recessive deafness associated with enlarged vestibular aqueduct (NSRD with EVA) are caused by mutations in the SLC26A4 (PDS) gene. | NA | {
"id": 10205,
"name": "MPZL2",
"pos": [
110,
3
]
} | {
"id": "C1863752",
"name": "Enlarged Vestibular Aqueduct",
"pos": [
70,
28
]
} |
We hypothesised that mannan-binding lectin (MBL) deficiency may confer risk of obesity and insulin resistance. | NA | {
"id": 4153,
"name": "MBL2",
"pos": [
44,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
91,
18
]
} |
Coding mutations in the AR (androgen receptor) gene have been identified in tissue samples from patients with advanced prostate cancer and represent a possible mechanism underlying the development of castration-resistant prostate cancer (CRPC). | genomic_alterations | {
"id": 367,
"name": "AR",
"pos": [
28,
17
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
119,
15
]
} |
To determine whether the presence of polymorphisms associated with reduced or absent activity of thiopurine methyltransferase (TPMT), an enzyme involved in azathioprine metabolism, can predict side-effects, particularly myelosuppression, in patients taking this drug. | NA | {
"id": 7172,
"name": "TPMT",
"pos": [
127,
4
]
} | {
"id": "C0854467",
"name": "Myelosuppression",
"pos": [
220,
16
]
} |
Schizophrenia may arise from subtle abnormalities in brain development due to alterations in the functions of candidate susceptibility genes such as Disrupted-in-schizophrenia 1 (DISC1) and Neuregulin 1 (NRG1). | NA | {
"id": 3084,
"name": "NRG1",
"pos": [
204,
4
]
} | {
"id": "C0220702",
"name": "SCHIZOPHRENIA 1 (disorder)",
"pos": [
162,
15
]
} |
EGFR and MYC were evaluated by fluorescence in situ hybridization and immunohistochemistry in 8 verrucae, 19 involuting KA (IKA), 23 classic KA (CKA), 6 atypical KA (AKA) and 19 SCC. | NA | {
"id": 4762,
"name": "NEUROG1",
"pos": [
166,
3
]
} | {
"id": "C3665596",
"name": "Warts",
"pos": [
96,
8
]
} |
We analyzed the alterations of p14(ARF), p16(INK4a) and p53 to study the contribution of each pathway in tumorigenesis of 29 patients with primary and consecutive (second primary) squamous cell carcinoma of the head and neck (HNSCC), with a total of 68 carcinomas. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
45,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
105,
13
]
} |
Recently, four patients with mild late-onset form have been described, a male with a hemizygous mutation and three females with heterozygous mutations in the MTM1 gene. | NA | {
"id": 4534,
"name": "MTM1",
"pos": [
159,
9
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
30,
4
]
} |
To establish the influence of the Trp64Arg variant of the beta3-adrenergic receptor (Trp64Arg- beta3AR) on body mass index (BMI) and insulin resistance (IR) in obese children. | NA | {
"id": 27319,
"name": "BHLHE22",
"pos": [
58,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
133,
18
]
} |
The first clone was characterized by a reciprocal translocation t(5;7)(q13;q35) involving 7q35, namely the TCR-beta gene, as expected in T-cell lymphomas. | genomic_alterations | {
"id": 6962,
"name": "TRBV20OR9-2",
"pos": [
107,
3
]
} | {
"id": "C0079772",
"name": "T-Cell Lymphoma",
"pos": [
137,
16
]
} |
This initial observation of an association between a polymorphism in the SLC10A2 gene and the risk of colorectal adenomatous polyps would, if confirmed by other studies, support the role of bile acids in the carcinogenesis of colorectal cancer. | NA | {
"id": 6555,
"name": "SLC10A2",
"pos": [
73,
12
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
208,
14
]
} |
Although, in necrotic specimens, an aspecific background signal appeared, the viable cells still retained anti-mutant EGFR positivity. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
118,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
13,
8
]
} |
We evaluated the effect of the IL-6 receptor antagonist tocilizumab on coronary microvascular function and endothelial dysfunction measured by coronary flow reserve (CFR) and markers of endothelial cell activation in patients with non-ST-elevation myocardial infarction (NSTEMI). | biomarker | {
"id": 3569,
"name": "IL6",
"pos": [
31,
4
]
} | {
"id": "C1561921",
"name": "Non-ST elevation (NSTEMI) myocardial infarction",
"pos": [
231,
38
]
} |
Autoimmune polyglandular syndrome type 1 [APS-1] comprises multiple organ-specific autoimmunities such as acquired hypoparathyroidism and autoimmune Addison's disease, and a predisposition to certain infections such as chronic mucocutaneous candidiasis. | biomarker | {
"id": 326,
"name": "AIRE",
"pos": [
42,
5
]
} | {
"id": "C4329260",
"name": "Acquired Hypoparathyroidism",
"pos": [
106,
27
]
} |
Collectively, our data support a model of CNOT7, TOB1, CNOT1, and RNA-binding proteins collectively exerting post-transcriptional control on a metastasis suppressive transcriptional program to drive tumor cell metastasis. | NA | {
"id": 23019,
"name": "CNOT1",
"pos": [
55,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
210,
10
]
} |
Among the genes regulated by Zap1 during zinc deficiency is the autophagy-related gene <i>ATG41</i> Here, we report that Atg41 is required for growth in zinc-deficient conditions, but not when zinc is abundant or when other metals are limiting. | biomarker | {
"id": 148266,
"name": "ZNF569",
"pos": [
29,
4
]
} | {
"id": "C0235950",
"name": "Zinc deficiency",
"pos": [
41,
15
]
} |
To better understand B-cell activation in MS by analyzing the immunoglobulin (Ig)G heavy chain variable region (VH) repertoire found in MS brains and comparing it with brain VH sequences in individuals with subacute sclerosing panencephalitis (SSPE)--a chronic encephalitis produced by measles virus (MV)-and characterized by an antigen-driven oligoclonal IgG response to MV antigens. | NA | {
"id": 6520,
"name": "SLC3A2",
"pos": [
83,
11
]
} | {
"id": "C0014038",
"name": "Encephalitis",
"pos": [
261,
12
]
} |
Additionally, this multifunctional serine/threonine protein kinase is a critical mediator of bone remodeling and macrophage function, thus emerging as an attractive therapeutic target downstream of AR in controlling metastatic PCa and preventing ADT-induced bone loss. | biomarker | {
"id": 367,
"name": "AR",
"pos": [
198,
2
]
} | {
"id": "C0029453",
"name": "Osteopenia",
"pos": [
258,
9
]
} |
Finally, rare human prostate cancer samples showed hemizygous loss of the COP1 gene, loss of COP1 protein, and elevated ETV1 protein while lacking a translocation event. | NA | {
"id": 64326,
"name": "COP1",
"pos": [
93,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
149,
13
]
} |
There were no differences in BCL2 and BCL6 gene abnormalities between diffuse large B-cell lymphoma and follicular lymphoma grade 3 with >75% follicular growth pattern. | NA | {
"id": 604,
"name": "BCL6",
"pos": [
38,
9
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
48,
13
]
} |
In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome. | genomic_alterations | {
"id": 2706,
"name": "GJB2",
"pos": [
322,
4
]
} | {
"id": "C0265336",
"name": "Senter syndrome",
"pos": [
356,
12
]
} |
Association Between the 20210G>A Prothrombin Gene Polymorphism and Arterial Ischemic Stroke in Children and Young Adults-Two Meta-analyses of 3586 Cases and 6440 Control Subjects in Total. | genomic_alterations | {
"id": 2147,
"name": "F2",
"pos": [
36,
11
]
} | {
"id": "C0948008",
"name": "Ischemic stroke",
"pos": [
70,
24
]
} |
The aim of the study was to investigate whether genetic variants in VEGF and KDR genes can be correlated with susceptibility of tendinopathy in volleyball athletes. | genomic_alterations | {
"id": 7422,
"name": "VEGFA",
"pos": [
68,
4
]
} | {
"id": "C0151936",
"name": "Disorder of tendon",
"pos": [
128,
12
]
} |
MicroRNA (miR)‑145 has been demonstrated to act as a tumor suppressor, and deregulation of fascin 1 (FSCN1) has been observed in several types of human malignancy, including gastric carcinoma. | biomarker | {
"id": 6624,
"name": "FSCN1",
"pos": [
101,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
53,
5
]
} |
Polymorphisms of TGFB1 and VEGF genes and survival of patients with gastric cancer. | genomic_alterations | {
"id": 7422,
"name": "VEGFA",
"pos": [
27,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
68,
14
]
} |
The HPV16 integration event gave rise to a short chromosomal deletion limited to the local FRA3B region within 3p14.2. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
91,
5
]
} | {
"id": "C0008628",
"name": "Chromosome Deletion",
"pos": [
49,
20
]
} |
To evaluate the potential of FHIT gene therapy, we developed recombinant adenoviral and adenoassociated viral (AAV) FHIT vectors and tested these vectors in vitro and in vivo for activity against human pancreatic cancer cells. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
111,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
202,
17
]
} |
In summary, the neuropsychological abnormalities found in Gnmt-/- mice may represent an endophenotype of schizophrenia. | NA | {
"id": 27232,
"name": "GNMT",
"pos": [
58,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
35,
13
]
} |
In an investigation of the two major types of non-small cell lung cancer, here, we identify the FOXO3 gene as a novel target of deletion in human lung adenocarcinoma (LAC). | NA | {
"id": 3938,
"name": "LCT",
"pos": [
167,
3
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
146,
19
]
} |
Neuroprotective actions of vitamin C related to decreased lipid peroxidation and increased catalase activity in adult rats after pilocarpine-induced seizures. | therapeutic | {
"id": 847,
"name": "CAT",
"pos": [
91,
8
]
} | {
"id": "C0751056",
"name": "Non-epileptic convulsion",
"pos": [
149,
8
]
} |
MMP1 rs1799750 1G/2G genotype was found to play a significant role in the development of eAMD at the age of less than 65 years. | genomic_alterations | {
"id": 4312,
"name": "MMP1",
"pos": [
0,
4
]
} | {
"id": "C0271084",
"name": "Exudative age-related macular degeneration",
"pos": [
89,
4
]
} |
Treatment of ErbB2-overexpressing BT474 and MDA-MB-453 breast cancer cells with 1 to 10 μmol/L betulinic acid inhibited cell growth, induced apoptosis, downregulated specificity protein (Sp) transcription factors Sp1, Sp3, and Sp4, and decreased expression of ErbB2. | NA | {
"id": 6671,
"name": "SP4",
"pos": [
227,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
55,
13
]
} |
The TYMS 5'-UTR 2R2R genotype was associated with a lower total leukocyte count, smaller percentage of blasts, and more adequate platelet count compared to 2R3R and 3R3R genotypes in ALL cases. | genomic_alterations | {
"id": 7298,
"name": "TYMS",
"pos": [
4,
4
]
} | {
"id": "C0023452",
"name": "Childhood Acute Lymphoblastic Leukemia",
"pos": [
183,
3
]
} |
In contrast to subcutaneous rhCNTF, which caused a 20-30% decrease in body weight in neonatal rats between postnatal days 2 and 7 together with a considerable fat mobilization in brown adipose tissue, TAT-CNTF lacked such side effects. | NA | {
"id": 1270,
"name": "CNTF",
"pos": [
205,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
70,
11
]
} |
However, infants with the 7-repeat DRD4 allele and homozygous for the short form of 5-HTTLPR (7(+), s/s) showed more anxiety and resistance to the stranger's initiation of interaction. | genomic_alterations | {
"id": 1815,
"name": "DRD4",
"pos": [
35,
4
]
} | {
"id": "C0003467",
"name": "Anxiety",
"pos": [
117,
7
]
} |
The influence of a common genetic polymorphism (2756A-->G, D919G) of the MS gene on plasma tHcy and folate levels and its relation to the risk of myocardial infarction (MI) in a prospective study of male physicians in the US was investigated. | NA | {
"id": 4397,
"name": "MS",
"pos": [
73,
7
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
146,
21
]
} |
Nuclear accumulation of p53 protein was detected in no L-NIN tumors, 1 (11%) H-NIN tumor, and 10 (44%) Ca-NIN tumors (p < 0.01). | NA | {
"id": 51199,
"name": "NIN",
"pos": [
106,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
110,
6
]
} |
Zinc finger genes mapping to regions commonly deleted in solid tumors included ZNF132, 134, 135, 137, 154, and 155, all located on 19q13 (thyroid adenoma), and ZNF151, at 1p36.1-p36.2 (neuroblastoma, colon cancer, and other tumors). | biomarker | {
"id": 7709,
"name": "ZBTB17",
"pos": [
160,
6
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
185,
13
]
} |
In sum, these human data identified IL-1β and the T-cell cytokine IL-22 as key players of a paracrine inflammatory pathway previously unidentified in adipose tissue, with a pathological relevance to obesity-induced type 2 diabetes. | NA | {
"id": 53342,
"name": "IL17D",
"pos": [
66,
5
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
199,
7
]
} |
Our data indicate that metastatic SCC cells that overexpress c-Met exhibit angiogenesis factor expression and enhanced scattering in response to HGF in vitro, and tumorigenesis and metastasis in response to HGF in the tumor microenvironment in vivo. | NA | {
"id": 3082,
"name": "HGF",
"pos": [
207,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
163,
13
]
} |
These data suggest a new and interesting role of MIR7-3HG as an anti-autophagic MIRNA that may affect oncogenesis through the regulation of the tumor suppressor AMBRA1. | biomarker | {
"id": 284424,
"name": "MIR7-3HG",
"pos": [
49,
8
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
102,
11
]
} |
Moreover, we found significantly higher methylation levels of the CpG region in the first exon of HOXA11 in infertile women with endometriosis compared with fertile women (p < 0.001) and infertile women with tubal occlusion (p < 0.001). | NA | {
"id": 3207,
"name": "HOXA11",
"pos": [
98,
6
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
187,
9
]
} |
One of eight new monoclonal antibodies generated, 12G2, specifically reacted not only with beta-casein, but also with human cervical adenocarcinoma cell line CAC-1. | NA | {
"id": 113452,
"name": "TMEM54",
"pos": [
158,
5
]
} | {
"id": "C0279672",
"name": "Cervical Adenocarcinoma",
"pos": [
124,
23
]
} |
To identify the translocation partner gene on chromosome 8, 5' and 3' RACE polymerase chain reactions (PCRs) were performed on patient RNA with several combinations of ZNF198 primers. | NA | {
"id": 23600,
"name": "AMACR",
"pos": [
70,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
16,
13
]
} |
miR-122-SP also knocked down endogenous miR-122 expression in Huh7 and promoted tumorigenesis in vivo. | NA | {
"id": 284424,
"name": "MIR7-3HG",
"pos": [
62,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
80,
13
]
} |
Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. | genomic_alterations | {
"id": 5832,
"name": "ALDH18A1",
"pos": [
13,
8
]
} | {
"id": "C0010495",
"name": "Cutis Laxa",
"pos": [
132,
10
]
} |
Activated GP IIb-IIIa binds fibrinogen or von Willebrand factor, which forms molecular bridges between aggregating platelets. | NA | {
"id": 3674,
"name": "ITGA2B",
"pos": [
10,
6
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
28,
10
]
} |
We show that endemic (eBL), sporadic (sBL), and acquired immunodeficiency syndrome-associated (AIDS-BL) forms of Burkitt lymphoma (BL) carrying t(8;14) chromosomal translocations display different breakpoints within the immunoglobulin heavy-chain locus (IGH) on chromosome 14. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
254,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
28,
8
]
} |
We hypothesized that altered expression of DISC1 and/or its molecular partners (nuclear distribution element-like [NUDEL], fasciculation and elongation protein zeta-i [FEZ1], and lissencephaly 1 [LIS1]) may underlie its pathogenic role in schizophrenia and explain its genetic association. | NA | {
"id": 81565,
"name": "NDEL1",
"pos": [
115,
5
]
} | {
"id": "C0431375",
"name": "Classical Lissencephaly",
"pos": [
179,
15
]
} |
Aldosterone, BNP, and proteinuria were increased, while GFR was decreased. | NA | {
"id": 9771,
"name": "RAPGEF5",
"pos": [
56,
3
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
22,
11
]
} |
The LYL1 gene was first identified upon the molecular characterization of the t(7;9)(q35;p13) translocation associated with some human T-cell acute leukemias (T-ALLs). | NA | {
"id": 4066,
"name": "LYL1",
"pos": [
4,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
94,
13
]
} |
The serotonin transporter gene (SLC6A4) has a critical role in regulating food intake, body weight and energy balance. | NA | {
"id": 6532,
"name": "SLC6A4",
"pos": [
32,
6
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
87,
11
]
} |
In contrast to the mouse, in which Wnt1 and Wnt3 are involved in tumorigenesis, our results suggest that Wnt2, Wnt4, and Wnt7b may be associated with abnormal proliferation in human breast tissue. | NA | {
"id": 7471,
"name": "WNT1",
"pos": [
35,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
65,
13
]
} |
To get insights into the mechanisms of resistance, we have also investigated the sensitization to MTX of MTX-resistant cells after drug withdrawal and reexposure to MTX. | NA | {
"id": 4580,
"name": "MTX1",
"pos": [
165,
3
]
} | {
"id": "C0038587",
"name": "Substance Withdrawal Syndrome",
"pos": [
131,
15
]
} |
Microsatellite mutation of the polyadenine tract (10 adenine repeat) within the TbetaR-II [transforming growth factor-beta (TGF-beta) receptor type II] coding region have been found in a variety of human cancers, particularly in association with microsatellite instability (MSI). | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
124,
8
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
246,
26
]
} |
Furthermore, inhibition of Rho kinase by Y-27632 blocked pVHL induction by hypoxia. | NA | {
"id": 6093,
"name": "ROCK1",
"pos": [
27,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
75,
7
]
} |
MEF2B was 100% sensitive and 98% specific for PMBL versus CHL. | biomarker | {
"id": 100271849,
"name": "MEF2B",
"pos": [
0,
5
]
} | {
"id": "C1292754",
"name": "Mediastinal (Thymic) Large B-Cell Lymphoma",
"pos": [
46,
4
]
} |
A total of 175 patients with chronic hepatitis C received one of three IFN-based regimens (35 received the PEG-IFN/RBV/TVR (PRT) regimen, 70 received the PEG-IFN/RBV (PR) regimen, and 70 received the IFN-β/RBV (FR) regimen) and body weight was followed for 12 weeks. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
158,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
228,
11
]
} |
This research sought to detect single-nucleotide polymorphisms in promoter sequences, like - 1082 (G/A), - 592 (C/A), and - 819 (C/T), as well as - 590 (C/T) of the IL-10 and IL-4 genes, respectively; in addition to the IL-4Rα mutation variants, Ile50Val and Q576R, together with circulating levels of IL-4, TNF-α, IL-10, and IFN-γ in patients with gastric carcinoma in Cúcuta, Colombia. | genomic_alterations | {
"id": 3586,
"name": "IL10",
"pos": [
165,
5
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
349,
17
]
} |
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