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dict | t
dict |
|---|---|---|---|
Cyclin B1 expression was significantly higher in HNPCC-related cancers than in sporadic endometrial cancers.
|
NA
|
{
"id": 891,
"name": "CCNB1",
"pos": [
0,
9
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
79,
8
]
}
|
Hereditary cancer screening (HCS) for germline variants in the 3' exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL.
|
genomic_alterations
|
{
"id": 5395,
"name": "PMS2",
"pos": [
75,
4
]
}
|
{
"id": "C4552100",
"name": "Lynch Syndrome",
"pos": [
118,
14
]
}
|
There were no significant main effects of ALDH1A1*2 on any drinking variables, nor was there a significant interaction between ALDH2 and ALDH1A1 genotypes on drinking outcomes.
|
NA
|
{
"id": 216,
"name": "ALDH1A1",
"pos": [
137,
7
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
158,
8
]
}
|
Conversely, PAF-elicited mechanical hypersensitivity was strikingly susceptible to distinct antineutrophil-related strategies, namely the antineutrophil antibody, the selectin blocker fucoidin, the chemokine CXCR2 receptor antagonist SB225002, and the C5a receptor antibody anti-CD88.
|
NA
|
{
"id": 728,
"name": "C5AR1",
"pos": [
279,
4
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
36,
16
]
}
|
We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases.
|
NA
|
{
"id": 346171,
"name": "ZFP57",
"pos": [
66,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
142,
8
]
}
|
Subjects with urinary tract infections, hyperparathyroidism, cystinuria >70 micromol/24 h, gouty diathesis, renal tubular acidosis, renal failure, chronic diarrhoeal states, intake of thiazide diuretics, angiotensin-converting enzyme (ACE)-inhibitors, glucocorticoids or oestrogens were excluded.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
235,
3
]
}
|
{
"id": "C0001126",
"name": "Renal tubular acidosis",
"pos": [
108,
22
]
}
|
Compared with the hypoxia group, the mPAP, the plasma levels of U-II, NO, and CNP, and the lung tissue homogenate levels of U-II and CNP in the oxygen treatment group [(31.4 +/- 2.0) mm Hg, (2.1 +/- 0.7) pg/ml, (14.8 +/- 1.7) micromol/L, (4.4 +/- 0.7) pg/ml; (3.5 +/- 0.8) pg/ml, (0.74 +/- 0.17) pg/ml, respectively] were significantly decreased (all P < 0.01).
|
NA
|
{
"id": 10911,
"name": "UTS2",
"pos": [
124,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
18,
7
]
}
|
Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
57,
3
]
}
|
{
"id": "C0752121",
"name": "Spinocerebellar Ataxia Type 2",
"pos": [
26,
29
]
}
|
Comprehensive protein profiling of paired surgical specimens of primary gastric adenocarcinomas and nontumor mucosae derived from Japanese patients was carried out by means of two-dimensional gel electrophoresis (2D-EP) and liquid chromatography-electrospray ionic tandem mass spectrometry (LC-ESI-MS) to establish gastric cancer-specific proteins as putative clinical biomarkers and molecular targets for chemotherapy.
|
NA
|
{
"id": 5266,
"name": "PI3",
"pos": [
294,
3
]
}
|
{
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
315,
14
]
}
|
We previously proposed a mechanism involving foam cell anchorage to vascular smooth muscle cells because: 1) CX3CL1 and CX3CR1 are expressed by both cell types in mouse and human atherosclerotic lesions; 2) foam cells are reduced in lesions in cx3cr1(-/-)apoE(-/-) mice; and 3) proatherogenic lipids (oxidized low density lipoprotein [oxLDL] and oxidized linoleic acid derivatives) induce adhesion of primary human macrophages to primary human coronary artery smooth muscle cells (CASMCs) in vitro in a macrophage CX3CR1-dependent manner.
|
NA
|
{
"id": 1524,
"name": "CX3CR1",
"pos": [
515,
6
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
390,
8
]
}
|
Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow.
|
biomarker
|
{
"id": 94233,
"name": "OPN4",
"pos": [
15,
10
]
}
|
{
"id": "C0008525",
"name": "Choroideremia",
"pos": [
0,
13
]
}
|
Recent findings point to a role of AIM2 function in both inflammation and cancer.
|
NA
|
{
"id": 9447,
"name": "AIM2",
"pos": [
35,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
57,
12
]
}
|
Administration of sodium valproate (VPA), a histone deacetylase 5 (HDAC5) inhibitor, not only significantly relieved the anxiety- and depression-like behaviors of CUS-induced rats but also clearly blunted decrease of H3(K9) and H4(K12) acetylation and expression of TH and TPH, and prevented increase of HDAC5 expression.
|
NA
|
{
"id": 10014,
"name": "HDAC5",
"pos": [
304,
5
]
}
|
{
"id": "C0003467",
"name": "Anxiety",
"pos": [
121,
7
]
}
|
Methylation-specific polymerase chain reaction and sodium bisulfite sequencing of these genes show that DCC, but not MBD1, CXXC1, SMAD4 and MBD2, has promoter CpG island methylation in CRC cell lines and tissues {normal mucosa [29.5% (18/61)], adenomas [81.0% (47/58)] and carcinomas [82.7% (62/75)] (P = 8.6 x 10(-9))} that is associated with reduced DCC expression, independent of 18q21 loss analyzed by multiplex ligation-dependent probe amplification.
|
NA
|
{
"id": 64174,
"name": "DPEP2",
"pos": [
140,
4
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
273,
10
]
}
|
We used whole-exome sequencing to identify variants other than APOE associated with the rate of hippocampal atrophy in amnestic mild cognitive impairment.
|
NA
|
{
"id": 348,
"name": "APOE",
"pos": [
63,
4
]
}
|
{
"id": "C4315130",
"name": "Hippocampal atrophy",
"pos": [
96,
19
]
}
|
At present, these are RET proto-oncogene, von Hippel-Lindau disease tumor suppressor gene (VHL), neurofibromatosis type 1 tumor suppressor gene (NF1), genes encoding the succinate dehydrogenase (SDH) complex subunits SDHB, SDHC, and SDHD, but also SDHA, the gene encoding the enzyme responsible for the flavination of SDHA (SDHAF2 or hSDH5), and the newly described TMEM127 and MAX tumor suppressor genes.
|
NA
|
{
"id": 55654,
"name": "TMEM127",
"pos": [
366,
7
]
}
|
{
"id": "C0027831",
"name": "Neurofibromatosis 1",
"pos": [
97,
24
]
}
|
This FMR2-related gene family encodes nuclear proteins with involvement in mental retardation (FMR2), cancer (AF4), and lymphocyte differentiation (LAF4) or with unknown function (EST W26686 and/or AA025630).
|
biomarker
|
{
"id": 1326,
"name": "MAP3K8",
"pos": [
180,
3
]
}
|
{
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
75,
18
]
}
|
Therefore, p120ctn-mediated accumulation of cyclin E in centrosomes may participate in abnormal amplification of centrosomes and the inhibition of DNA replication, thus leading to aberrant mitosis and polyploidy.
|
NA
|
{
"id": 898,
"name": "CCNE1",
"pos": [
44,
8
]
}
|
{
"id": "C0032578",
"name": "Polyploidy",
"pos": [
201,
10
]
}
|
Our results show that, in the absence of retinoid signaling via RARβ, reduced IGF-1 signaling results in suppression of epithelial-mesenchymal transition and delays tumorigenesis induced by the Wnt1 oncogene.
|
NA
|
{
"id": 7471,
"name": "WNT1",
"pos": [
194,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
165,
13
]
}
|
This study demonstrates the potential of systemic injection of NSCs to deliver anticancer agents, such as TRAIL, which yields glioma regression when combined with Lan C.
|
NA
|
{
"id": 8743,
"name": "TNFSF10",
"pos": [
106,
5
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
133,
10
]
}
|
Polymorphism in COX-2 modifies the inverse association between Helicobacter pylori seropositivity and esophageal squamous cell carcinoma risk in Taiwan: a case control study.
|
genomic_alterations
|
{
"id": 107075310,
"name": "MTCO2P12",
"pos": [
16,
5
]
}
|
{
"id": "C0374997",
"name": "Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site",
"pos": [
63,
19
]
}
|
An atopy-independent association between CC16 38AA and asthma prevalence was identified, suggesting the CC16 38A allele predisposes to adult asthma independent of Th1/Th2 processes.
|
NA
|
{
"id": 7356,
"name": "SCGB1A1",
"pos": [
104,
4
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
3,
5
]
}
|
Groups with and without loss of heterozygosity showed essentially the same results, while significant differences were found for groups with grades 1 and 2 to 3 (p < 0.05) cancer, stages pT1 and pT2 to 4 (p < 0.01) disease, and with and without p53 gene mutations (p < 0.01, Cox-Mantel test).
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
251,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
175,
6
]
}
|
Mutation in COL4A1 should be considered in families with a history of autosomal dominant cerebral vasculopathy, even in the absence of porencephaly.
|
genomic_alterations
|
{
"id": 1282,
"name": "COL4A1",
"pos": [
12,
6
]
}
|
{
"id": "C0042373",
"name": "Vascular Diseases",
"pos": [
98,
12
]
}
|
Receptor interacting protein(RIP)-1 is thought to have a significant role in inflammation signaling pathways; however, the role of RIP-1 in malignant tumors is largely unknown.
|
NA
|
{
"id": 11103,
"name": "KRR1",
"pos": [
131,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
77,
12
]
}
|
Evaluation of germline CDKN2A, ARF, CDK4, PTEN, and BRAF alterations in atypical mole syndrome.
|
NA
|
{
"id": 5728,
"name": "PTEN",
"pos": [
42,
4
]
}
|
{
"id": "C0013403",
"name": "Dysplastic Nevus Syndrome",
"pos": [
72,
22
]
}
|
Supernatants derived from NSCLC CD56(+)CD16(-) NK cells induced endothelial cell chemotaxis and formation of capillary-like structures in vitro, particularly evident in SCC patients and absent from controls.
|
biomarker
|
{
"id": 4684,
"name": "NCAM1",
"pos": [
32,
4
]
}
|
{
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
26,
5
]
}
|
We evaluated AAHs, adjacent normal lung tissue, and synchronous lung adenocarcinomas for promoter hypermethylation of genes implicated in lung tumorigenesis (p16, TIMP3, DAPK, MGMT, RARbeta, RASSF1A, and hTERT).
|
NA
|
{
"id": 7078,
"name": "TIMP3",
"pos": [
163,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
143,
13
]
}
|
Anthropometric/biochemical parameters--body mass index, waist circumference, diastolic and systolic blood pressures, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, fasting glucose, insulin, C-reactive protein, and PAI-1 levels--were analysed.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
233,
18
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
39,
15
]
}
|
MMR mutations were found significantly more often in families with at least one MSI-H small-bowel cancer (p < 0.001).
|
NA
|
{
"id": 4360,
"name": "MRC1",
"pos": [
0,
3
]
}
|
{
"id": "C0346627",
"name": "Intestinal Cancer",
"pos": [
92,
12
]
}
|
Epigenetic silencing of tumor suppressor genes starts during viral infection and progresses toward HCC with the chronicity of the disease.
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
99,
3
]
}
|
{
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
61,
15
]
}
|
Alterations at either p53 or Rb, however, are only weakly associated with tumor aggressiveness.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
23,
3
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
81,
14
]
}
|
Immunoreactivities and expressions of CRH and POMC mRNAs were strong in inflammatory lesions, melanocytic nevus, seborrheic keratosis, and also in the periphery of the benign tumor.
|
NA
|
{
"id": 1392,
"name": "CRH",
"pos": [
38,
3
]
}
|
{
"id": "C0027962",
"name": "Melanocytic nevus",
"pos": [
94,
17
]
}
|
Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children.
|
NA
|
{
"id": 27151,
"name": "CPAMD8",
"pos": [
27,
3
]
}
|
{
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
193,
18
]
}
|
We conclude that the novel S218L mutation in the CACNA1A calcium channel subunit gene is involved in FHM and delayed fatal cerebral edema and coma after minor head trauma.
|
NA
|
{
"id": 773,
"name": "CACNA1A",
"pos": [
49,
7
]
}
|
{
"id": "C0006114",
"name": "Cerebral Edema",
"pos": [
123,
14
]
}
|
The observed gender differences in the expression of CLOCK and Per1 in G(2) tumors might suggest a gender-specific, distinctive role of the cellular clock in colorectal tumorigenesis.
|
NA
|
{
"id": 5187,
"name": "PER1",
"pos": [
63,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
169,
13
]
}
|
A positive correlation was found between sst(2) but not sst(5) mRNA levels in the adenoma cells and the inhibitory potency of OCT on GH release in vivo and in vitro, and the effects of SOM230 and SRIF-14 in vitro.
|
NA
|
{
"id": 5362,
"name": "PLXNA2",
"pos": [
126,
3
]
}
|
{
"id": "C0001430",
"name": "Adenoma",
"pos": [
82,
7
]
}
|
Mechanistically, YTHDF1 promoted the translation of methylated HINT2 mRNA, a tumor suppressor in ocular melanoma.
|
biomarker
|
{
"id": 54915,
"name": "YTHDF1",
"pos": [
17,
6
]
}
|
{
"id": "C0558356",
"name": "Malignant melanoma of eye",
"pos": [
97,
15
]
}
|
These results suggest that RII gene mutations confer a growth advantage and are selected for in RER+ cancers of both the upper and lower gastrointestinal tract.
|
NA
|
{
"id": 3550,
"name": "IK",
"pos": [
96,
3
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
101,
7
]
}
|
Among them, the 1p32-34 locus may be associated with aggressiveness of tumor progression, possibly due to MYCN amplification and/or telomerase reactivation, while the remaining two loci may not.
|
NA
|
{
"id": 4613,
"name": "MYCN",
"pos": [
106,
4
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
53,
14
]
}
|
In an independent sample set, SNP2 (rs2433320) close to SNP1 was associated with bipolar disorder.
|
NA
|
{
"id": 6625,
"name": "SNRNP70",
"pos": [
56,
4
]
}
|
{
"id": "C0005586",
"name": "Bipolar Disorder",
"pos": [
81,
16
]
}
|
NRAS and BRAF mutations in melanoma tumours in relation to clinical characteristics: a study based on mutation screening by pyrosequencing.
|
genomic_alterations
|
{
"id": 4893,
"name": "NRAS",
"pos": [
0,
4
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
27,
8
]
}
|
Here, we further report that GA inhibition of Hsp90 also led to IKK autophagic degradation and NFkappaB inhibition in both HTLV-transformed T cells and ATL-derived cell lines.
|
biomarker
|
{
"id": 3320,
"name": "HSP90AA1",
"pos": [
46,
5
]
}
|
{
"id": "C0023493",
"name": "Adult T-Cell Lymphoma/Leukemia",
"pos": [
152,
3
]
}
|
Given the causal role of this signaling pathway in mediating colitis and the importance of inflammation in cancer development, we tested the effects of NTR-1 in mouse models of inflammation-associated and sporadic colon cancer using NTR-1-deficient (Ntsr1(-) (/-)) and wild-type (Ntsr1(+/+)) mice.
|
NA
|
{
"id": 4923,
"name": "NTSR1",
"pos": [
280,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
205,
8
]
}
|
Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia.
|
NA
|
{
"id": 653509,
"name": "SFTPA1",
"pos": [
16,
6
]
}
|
{
"id": "C0429908",
"name": "Susceptibility to tuberculosis",
"pos": [
44,
30
]
}
|
The data demonstrate that levels of the alpha subunit of the soluble IL-2 receptor, but not IFN-gamma, are elevated in the serum (median = 1428 U/ml; interquartile range = 823-2137 U/ml) and bronchoalveolar lavage fluid (median = 1.56 U/ml, interquartile range = 1.04-4.22 U/ml) of patients with CBD and correlate with the degree of pulmonary lymphocytosis and clinical measures of disease severity.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
92,
3
]
}
|
{
"id": "C0024282",
"name": "Lymphocytosis",
"pos": [
343,
13
]
}
|
This study is the first to identify frequent BAP1 and BRCA pathway alterations in bladder cancer, show TERT promoter alterations are independent of other bladder cancer gene alterations, and show KDM6A loss is a driver of the bladder cancer phenotype.
|
genomic_alterations
|
{
"id": 110806263,
"name": "LOC110806263",
"pos": [
103,
13
]
}
|
{
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
54,
4
]
}
|
Hypoxia-inducible factor-1alpha (HIF-1alpha) is a transcription factor that mediates many cellular responses to tissue hypoxia, a common feature of acute kidney injury (AKI).
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
33,
10
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
119,
7
]
}
|
The t(1;19)(q23;p13.3) is one of the most common chromosomal abnormalities in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) and usually gives rise to the TCF3-PBX1 fusion gene.
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
16,
3
]
}
|
{
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
95,
28
]
}
|
These chemokines and a growth factor (TGF-beta) may be involved in the process of airway remodelling.
|
NA
|
{
"id": 7040,
"name": "TGFB1",
"pos": [
38,
8
]
}
|
{
"id": "C2717792",
"name": "Airway Remodeling",
"pos": [
82,
18
]
}
|
Roles of pyruvate carboxylase in human diseases: from diabetes to cancers and infection.
|
biomarker
|
{
"id": 5091,
"name": "PC",
"pos": [
9,
20
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
54,
8
]
}
|
Northern blotting confirmed increased expression of skeletal muscle alpha-actin (ACTA1), myosin light chain 2a (MLC2a), GTP-binding protein Gs-alpha subunit (GNAS1), NADH ubiquinone oxidoreductase (NDUFB10), voltage-dependent anion channel 1 (VDAC1), four-and-a-half LIM domain protein 1 (FHL1) (also known as SLIM1), sarcosin (SARCOSIN) and heat shock 70kD protein 8 (HSPA8) by less than twofold.
|
NA
|
{
"id": 10324,
"name": "KLHL41",
"pos": [
328,
8
]
}
|
{
"id": "C0036974",
"name": "Shock",
"pos": [
347,
5
]
}
|
In individuals with type 2 diabetes the insulin-stimulated translocation of IRAP to the cell surface of muscle and fat cells is impaired.
|
NA
|
{
"id": 3557,
"name": "IL1RN",
"pos": [
76,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
59,
13
]
}
|
Tuberous sclerosis complex (TSC) is characterized by the formation of hamartomas in multiple organs resulting from mutations in the TSC1 or TSC2 gene.
|
genomic_alterations
|
{
"id": 7248,
"name": "TSC1",
"pos": [
132,
4
]
}
|
{
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
0,
26
]
}
|
Several members had additional beta-chain abnormalities (Hb S, Hb D-Los Angeles, beta-thalassaemia); the 11 persons with a Hb S heterozygosity and various alpha-globin gene defects (-alpha/alpha alpha; alpha T alpha/alpha alpha, - -/alpha alpha, -alpha/-alpha and - -/alpha T alpha) showed a decrease in the level of Hb S that was directly related to the severity of the alpha-chain deficiency.
|
genomic_alterations
|
{
"id": 3040,
"name": "HBA2",
"pos": [
155,
12
]
}
|
{
"id": "C0005283",
"name": "beta Thalassemia",
"pos": [
81,
17
]
}
|
In zebrafish models, we found that either RASA1 or EPHB4 deficiency induced strikingly similar abnormalities in blood vessel formation and function.
|
NA
|
{
"id": 5921,
"name": "RASA1",
"pos": [
42,
5
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
95,
13
]
}
|
Versican regulates adhesion, migration, proliferation, and survival of cells, and plays an important role in cancer development.
|
NA
|
{
"id": 1462,
"name": "VCAN",
"pos": [
0,
8
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
19,
8
]
}
|
Likewise, endothelial-specific deletion of Cdc42 significantly attenuated chronic inflammation and plaque formation in atherosclerotic mice.
|
NA
|
{
"id": 998,
"name": "CDC42",
"pos": [
43,
5
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
99,
6
]
}
|
Compared to DAF-sufficient littermate controls, DAF-deficient female MRL/lpr mice developed exacerbated lymphadenopathy and splenomegaly, higher serum anti-chromatin autoantibody levels, and aggravated dermatitis.
|
NA
|
{
"id": 1604,
"name": "CD55",
"pos": [
48,
3
]
}
|
{
"id": "C0497156",
"name": "Lymphadenopathy",
"pos": [
104,
15
]
}
|
Whereas specific inhibition of mimitin expression did not affect cell proliferation in human cervical carcinoma, colon adenocarcinoma, and hepatocarcinoma cell lines, it did suppress cell proliferation in human glioblastoma, esophageal squamous cell carcinoma (ESCC), and embryonic lung fibroblastic cells, with the greatest suppression efficiency in ESCC cells.
|
NA
|
{
"id": 91942,
"name": "NDUFAF2",
"pos": [
31,
7
]
}
|
{
"id": "C0338106",
"name": "Adenocarcinoma of colon",
"pos": [
113,
20
]
}
|
We conducted a case-control study, enrolling 173 T1D patients and 191 healthy controls from northeastern Brazil, to assess the distribution of the rs7574865 and rs3024839 SNPs in STAT4 and the rs3747517 and rs1990760 SNPs in IFIH1 in T1D and APSIII patients.
|
genomic_alterations
|
{
"id": 6775,
"name": "STAT4",
"pos": [
179,
5
]
}
|
{
"id": "C1535942",
"name": "Polyglandular Type III Autoimmune Syndrome",
"pos": [
242,
6
]
}
|
Role of cyclophilin B in tumorigenesis and cisplatin resistance in hepatocellular carcinoma in humans.
|
biomarker
|
{
"id": 5479,
"name": "PPIB",
"pos": [
8,
13
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
25,
13
]
}
|
It was shown that mRNA isoforms for IGF-1A and IGF-1B were mainly expressed in samples with hyperexpression of YB-1 mRNA, and, on the contrary, practically were not expressed (except sporadic cases) in samples with low level of YB-1 mRNA expression.
|
NA
|
{
"id": 3479,
"name": "IGF1",
"pos": [
47,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
183,
8
]
}
|
Therefore, we examined different components of an important pathway in angiogenesis: hypoxia-inducible factors (HIFs); HIF regulators von Hippel-Lindau (VHL) and prolyl 3-hydroxylase (PHD3); and HIF target genes vascular endothelial growth factor A ( VEGF-A ) and vascular endothelial growth factor receptor 2 ( VEGFR-2 ).
|
NA
|
{
"id": 112399,
"name": "EGLN3",
"pos": [
184,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
85,
7
]
}
|
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.
|
NA
|
{
"id": 6911,
"name": "TBX6",
"pos": [
0,
4
]
}
|
{
"id": "C0000846",
"name": "Agenesis",
"pos": [
75,
7
]
}
|
Multiple aberrations were found in sporadic tumors with a somatic mutation and/or loss of heterozygosity of the MEN1 gene.
|
NA
|
{
"id": 4221,
"name": "MEN1",
"pos": [
112,
9
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
35,
8
]
}
|
Regarding to the (GT)n repeats, the LL genotype showed a higher odds ratio for the development of albuminuria only in patients with hypertension when compared to the S allele.In conclusion, the T(-413)A SNP in the HO-1 promoter is significantly associated with albuminuria development in type 2 diabetes patients, especially with longer duration and poor glycemic control.
|
NA
|
{
"id": 3162,
"name": "HMOX1",
"pos": [
214,
4
]
}
|
{
"id": "C0001925",
"name": "Albuminuria",
"pos": [
98,
11
]
}
|
Plasma PLTP is elevated in humans with end-stage kidney disease and glomerular proteinuria, but the contribution of systemic PLTP elevation to the development of renal damage is unknown.
|
NA
|
{
"id": 5360,
"name": "PLTP",
"pos": [
125,
4
]
}
|
{
"id": "C0022661",
"name": "Kidney Failure, Chronic",
"pos": [
39,
24
]
}
|
Amplification of 20q13 is a frequent chromosomal alteration in solid tumors and harbors a number of putative oncogenes (CAS/CSE1-L, NABC1, or Aurora2).
|
genomic_alterations
|
{
"id": 1500,
"name": "CTNND1",
"pos": [
120,
3
]
}
|
{
"id": "C0280100",
"name": "Solid Neoplasm",
"pos": [
63,
12
]
}
|
Here, real-time PCR showed that overexpression of Cosmc mRNA in colorectal tumors compared with paired non-tumorous tissues was associated with increased American Joint Committee on Cancer (AJCC) tumor stage.
|
NA
|
{
"id": 29071,
"name": "C1GALT1C1",
"pos": [
50,
5
]
}
|
{
"id": "C0009404",
"name": "Colorectal Neoplasms",
"pos": [
64,
17
]
}
|
Moreover, hypoxia reduced KAP1 SUMOylation and resulted in dissociation of both KAP1 and Sin3A repressors from LANA(SIM)-associated complex.
|
NA
|
{
"id": 25942,
"name": "SIN3A",
"pos": [
89,
5
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
59,
12
]
}
|
Within 2 d of embryo injection, we created and corrected chocolate missense mutations in the small GTPase RAB38; a regulator of intracellular vesicle trafficking and phenotypic model of Hermansky-Pudlak syndrome.
|
genomic_alterations
|
{
"id": 23682,
"name": "RAB38",
"pos": [
106,
5
]
}
|
{
"id": "C0079504",
"name": "Hermanski-Pudlak Syndrome",
"pos": [
186,
25
]
}
|
Our report shows that hearing loss is not always present in the syndrome of distal renal tubular acidosis with nerve deafness and the absence of hypercalciuria at diagnosis and describes a new mutation responsible for the disease in the ATP6V1B1 gene.
|
NA
|
{
"id": 525,
"name": "ATP6V1B1",
"pos": [
237,
13
]
}
|
{
"id": "C0020438",
"name": "Hypercalciuria",
"pos": [
145,
14
]
}
|
Transfection of normal FANCC into mutant cells corrects this hypersensitivity and improves their viability in vitro.
|
NA
|
{
"id": 2176,
"name": "FANCC",
"pos": [
23,
5
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
61,
16
]
}
|
Anderson disease (and/or chylomicron retention disease-CMRD) is a rare, autosomic recessive disorder characterized by chronic diarrhea, failure to thrive, and hypocholesterolemia in childhood.
|
genomic_alterations
|
{
"id": 51128,
"name": "SAR1B",
"pos": [
55,
4
]
}
|
{
"id": "C0151718",
"name": "Hypocholesterolemia",
"pos": [
159,
19
]
}
|
We demonstrated that a non-cytotoxic concentration of PD markedly suppressed wound healing migration, invasion through the matrigel, and adhesion to an ECM-coated substrate in a dose-dependent manner.
|
NA
|
{
"id": 22915,
"name": "MMRN1",
"pos": [
152,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
137,
8
]
}
|
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation.
|
NA
|
{
"id": 613,
"name": "BCR",
"pos": [
35,
8
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
151,
24
]
}
|
Induction of cell cycle arrest and apoptosis in human prostate carcinoma cells by a recombinant adenovirus expressing p27(Kip1).
|
NA
|
{
"id": 10671,
"name": "DCTN6",
"pos": [
118,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
96,
10
]
}
|
The aim of our experimental study was to verify the S100B increase in long bone fracture without haemorrhagic shock.
|
NA
|
{
"id": 6285,
"name": "S100B",
"pos": [
52,
5
]
}
|
{
"id": "C0036982",
"name": "Shock, Hemorrhagic",
"pos": [
97,
18
]
}
|
We show enhanced CLL disease progression in IRF4-deficient Tcl-1 tg mice, associated with a severe downregulation of genes involved in T-cell activation, including genes involved in antigen processing/presentation and T-cell costimulation, which massively reduced T-cell subset skewing and exhaustion.
|
genomic_alterations
|
{
"id": 8115,
"name": "TCL1A",
"pos": [
59,
5
]
}
|
{
"id": "C0023434",
"name": "Chronic Lymphocytic Leukemia",
"pos": [
17,
3
]
}
|
We examined the expression of ICAM-1 in renal tissues of Masugi nephritis rats and directly examined the role of ICAM-1 by administration of neutralizing monoclonal antibodies (MAbs) to rat ICAM-1, LFA-1 alpha-subunit (LFA-1 alpha), beta-subunit (LFA-1 beta) and Mac-1 alpha-subunit (Mac-1 alpha).
|
therapeutic
|
{
"id": 3689,
"name": "ITGB2",
"pos": [
247,
5
]
}
|
{
"id": "C0027697",
"name": "Nephritis",
"pos": [
64,
9
]
}
|
Two hundred and forty Japanese adults, who visited Aichi Cancer Center as outpatients, were genotyped for the wild-type (CYP2A6*1A, CYP2A6*1B) and the whole deletion-type (CYP2A6*4C) polymorphism of CYP2A6.
|
genomic_alterations
|
{
"id": 1548,
"name": "CYP2A6",
"pos": [
172,
6
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
57,
6
]
}
|
Molecular mechanism by which TGFβ1 suppresses early prostate tumor growth and induces epithelial-to-mesenchymal transition (EMT) in advanced stages is not known.
|
NA
|
{
"id": 3702,
"name": "ITK",
"pos": [
124,
3
]
}
|
{
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
52,
14
]
}
|
By real-time-PCR, mRNA-expression levels of HMGB1 and RAGE were upregulated in muscle biopsies of patients with IBM and PM, but not in muscular dystrophy or non-myopathic controls.
|
NA
|
{
"id": 177,
"name": "AGER",
"pos": [
54,
4
]
}
|
{
"id": "C0026850",
"name": "Muscular Dystrophy",
"pos": [
135,
18
]
}
|
Taken together, we characterized a group of Lauren classification-associated biomarkers, and clarified biological functions of UBE2C, an intestinal-type gastric cancer associated gene.
|
biomarker
|
{
"id": 11065,
"name": "UBE2C",
"pos": [
127,
5
]
}
|
{
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
153,
14
]
}
|
Expression of a CD44 variant containing exons 8 to 10 is a useful independent factor for the prediction of prognosis in colorectal cancer patients.
|
genomic_alterations
|
{
"id": 960,
"name": "CD44",
"pos": [
16,
4
]
}
|
{
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
120,
17
]
}
|
Contrarily, MANF protected the NeuN-positive cells in hippocampus and cortex from death induced by ischemia.
|
NA
|
{
"id": 7873,
"name": "MANF",
"pos": [
12,
4
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
99,
8
]
}
|
These mice were then given injections of VEGF-neutralizing (mcr84) or control antibodies, and other mice received an adenovirus that expressed mouse VEGF or a control vector.
|
NA
|
{
"id": 7422,
"name": "VEGFA",
"pos": [
149,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
117,
10
]
}
|
In this work we characterized the glycophenotype and the enzyme expression involved in glycans biosynthesis in five established human NB cell lines and in patient-derived primary tumors with different MYCN status.
|
genomic_alterations
|
{
"id": 4613,
"name": "MYCN",
"pos": [
201,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
179,
6
]
}
|
Simultaneously, the expression of matrix metalloproteinase-1 (MMP-1) and adhesion molecules (P-selectin, VCAM-1, and ICAM-1) was also increased in the I/R area (P < 0.01 vs. sham control group).
|
NA
|
{
"id": 6403,
"name": "SELP",
"pos": [
93,
10
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
73,
8
]
}
|
While mesothelin is an attractive target for cancer immunotherapy given its normal expression is limited to mesothelial cells, the breakthrough for chimeric antigen receptor T-cell treatment against this antigen is still forthcoming.
|
biomarker
|
{
"id": 10232,
"name": "MSLN",
"pos": [
6,
10
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
45,
6
]
}
|
Downregulation of microRNA-451 in non-alcoholic steatohepatitis inhibits fatty acid-induced proinflammatory cytokine production through the AMPK/AKT pathway.
|
NA
|
{
"id": 207,
"name": "AKT1",
"pos": [
145,
3
]
}
|
{
"id": "C2718067",
"name": "Alcoholic Steatohepatitis",
"pos": [
38,
25
]
}
|
Four of the infertile men displayed an altered MLH1 distribution on at least one of the chromosome arms studied.
|
NA
|
{
"id": 4292,
"name": "MLH1",
"pos": [
47,
4
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
12,
9
]
}
|
Seventy-three (55%) patients had SDHB mutations; 59 (45%) patients had apparently sporadic tumors (AST).
|
NA
|
{
"id": 2805,
"name": "GOT1",
"pos": [
99,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
82,
8
]
}
|
Furthermore, CCAR1 depletion inhibited the growth, migration, invasion of prostate cancer cells and reduced the tumorigenicity of prostate cancer cells in vivo.
|
NA
|
{
"id": 55749,
"name": "CCAR1",
"pos": [
13,
5
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
130,
15
]
}
|
The endogenous expression of p53 and p53-regulated genes has been examined in a thymidylate synthase-deficient colon carcinoma cell line (TS-) and a derived mutant clone (Thy4) that exhibit acute or delayed apoptotic responses, respectively, when released from G0 synchrony under conditions of dThd starvation.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
37,
3
]
}
|
{
"id": "C0038187",
"name": "Starvation",
"pos": [
299,
10
]
}
|
Direct comparison of the telomerically extended portion of the MS susceptibility haplotype in HFE-Cys282Tyr (C282Y)-homozygous haemochromatosis patients identified a common ancestry for this genomic segment, which translated into an increased frequency of the C282Y allele in 489 MS cases from Tasmania and Victoria (10.2%) compared with controls (6.7%).
|
genomic_alterations
|
{
"id": 3077,
"name": "HFE",
"pos": [
94,
3
]
}
|
{
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
63,
2
]
}
|
CoPP improved glucose tolerance and insulin sensitivity in WT mice on HFD, but compromised insulin sensitivity in Sirt1-deficient mice on HFD.
|
therapeutic
|
{
"id": 23411,
"name": "SIRT1",
"pos": [
114,
5
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
36,
19
]
}
|
Role of 4-1BB:4-1BB ligand in cancer immunotherapy.
|
biomarker
|
{
"id": 3604,
"name": "TNFRSF9",
"pos": [
8,
5
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
30,
6
]
}
|
Our observations suggest direct involvement of CS1-containing FN in recruitment of alpha 4 beta 1-expressing mononuclear leukocytes in synovitis, and provide basis for therapeutic intervention in RA.
|
NA
|
{
"id": 6744,
"name": "ITPRID2",
"pos": [
47,
3
]
}
|
{
"id": "C0039103",
"name": "Synovitis",
"pos": [
135,
9
]
}
|
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