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stringclasses 4
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dict | t
dict |
|---|---|---|---|
[Role of endogenous tPA in stroke].
|
therapeutic
|
{
"id": 5327,
"name": "PLAT",
"pos": [
20,
3
]
}
|
{
"id": "C0751954",
"name": "Venous Infarction, Brain",
"pos": [
27,
6
]
}
|
Status of human epidermal growth factor receptor 2 (HER2) expressing and aneuploidy of chromosome 8 in CTCs enriched from the patients was examined by SET-iFISH following clinical chemotherapy or HER2-targeted therapy.
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
196,
4
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
73,
10
]
}
|
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
|
genomic_alterations
|
{
"id": 6495,
"name": "SIX1",
"pos": [
102,
4
]
}
|
{
"id": "C0265240",
"name": "Goldenhar Syndrome",
"pos": [
30,
31
]
}
|
Transgenic mice that overexpress mutant human K18 (Arg89-->Cys [R89C]) develop mild chronic hepatitis, hepatocyte fragility, keratin filament disruption, and increased susceptibility to drug-induced liver injury.
|
NA
|
{
"id": 3875,
"name": "KRT18",
"pos": [
46,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
79,
4
]
}
|
Therefore, this cell culture system reveals an intrinsic aggravated stress response with consequent decrease in ECM proteins as potential pathogenic underpinnings in KC.
|
biomarker
|
{
"id": 22915,
"name": "MMRN1",
"pos": [
112,
3
]
}
|
{
"id": "C0022578",
"name": "Keratoconus",
"pos": [
166,
2
]
}
|
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
|
genomic_alterations
|
{
"id": 9987,
"name": "HNRNPDL",
"pos": [
34,
7
]
}
|
{
"id": "C0030552",
"name": "Paresis",
"pos": [
82,
15
]
}
|
This study underpins the importance of the IGF2-PI3K/AKT-miR-377-CD133 signaling axis in the maintenance of cancer stemness and in the development of novel therapeutic strategy for treatment of esophageal cancer.
|
biomarker
|
{
"id": 494326,
"name": "MIR377",
"pos": [
57,
7
]
}
|
{
"id": "C0546837",
"name": "Malignant neoplasm of esophagus",
"pos": [
194,
17
]
}
|
In this study, we explored for the first time the expression of PcG genes, including EZH2, EED, SUZ12, RING1, and BMI1, in various MDS subsets and acute myeloid leukemia (AML), as well as the relationship between the expression of PcG genes and epigenetic alteration and prognosis-risk scoring.
|
NA
|
{
"id": 8726,
"name": "EED",
"pos": [
91,
3
]
}
|
{
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
147,
22
]
}
|
The long noncoding RNA FTH1P3 promotes the proliferation and metastasis of cervical cancer through microRNA‑145.
|
biomarker
|
{
"id": 406937,
"name": "MIR145",
"pos": [
99,
12
]
}
|
{
"id": "C4048328",
"name": "cervical cancer",
"pos": [
75,
15
]
}
|
To address the direct effect of mycobacterial PLC on cell necrosis and PGE2 inhibition, both isolates were treated with PLC inhibitors prior to macrophage infection.
|
NA
|
{
"id": 3339,
"name": "HSPG2",
"pos": [
120,
3
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
58,
8
]
}
|
Antithrombin III for portal vein thrombosis in patients with liver disease: A randomized, double-blind, controlled trial.
|
biomarker
|
{
"id": 462,
"name": "SERPINC1",
"pos": [
0,
16
]
}
|
{
"id": "C0023895",
"name": "Liver diseases",
"pos": [
61,
13
]
}
|
However, the -336A variant was more frequent in HTLV-1-infected patients [HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), 80 %; healthy asymptomatic HTLV-1 carriers, 90 %] than in the control group (70 %) [P=0.0197, odds ratio (OR)=2.511, 95 % confidence interval (CI)=1.218-5.179).
|
NA
|
{
"id": 7057,
"name": "THBS1",
"pos": [
137,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
157,
12
]
}
|
Lowered CHFR expression quickly led to increased aneuploidy due to many mitotic defects.
|
NA
|
{
"id": 55743,
"name": "CHFR",
"pos": [
8,
4
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
49,
10
]
}
|
This review summarizes the literature examining the effects of MCH on body weight, food intake and energy expenditure in rodent models, and the central sites where MCH acts in regulating energy homeostasis.
|
NA
|
{
"id": 5367,
"name": "PMCH",
"pos": [
165,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
71,
11
]
}
|
These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg).
|
NA
|
{
"id": 5618,
"name": "PRLR",
"pos": [
161,
4
]
}
|
{
"id": "C0027662",
"name": "Multiple Endocrine Neoplasia",
"pos": [
60,
28
]
}
|
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) and pyogenic arthritis-pyoderma gangrenosum-acne (PAPA) syndromes highlight the attributes of inflammation to acne formation.
|
NA
|
{
"id": 2737,
"name": "GLI3",
"pos": [
106,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
150,
12
]
}
|
Except an unexpected hypotriglyceridemia, Bscl2(-/-) mice phenotype represents an almost perfect picture of the human disease.
|
NA
|
{
"id": 26580,
"name": "BSCL2",
"pos": [
42,
5
]
}
|
{
"id": "C0542037",
"name": "Hypotriglyceridemia",
"pos": [
21,
19
]
}
|
Co-transduction of Kras(G12D) and AML1/ETO induces acute monoblastic leukemia.
|
genomic_alterations
|
{
"id": 862,
"name": "RUNX1T1",
"pos": [
39,
3
]
}
|
{
"id": "C0023465",
"name": "Acute monocytic leukemia",
"pos": [
51,
26
]
}
|
This study was designed to determine the prevalence of p16, MGMT, RARbeta2, CLDN3, CRBP and MT1G gene methylation in patients with ESCC to evaluate the variation of gene methylation across a spectrum of preneoplastic lesions, and assess the feasibility of using gene methylation in a primary screening test utilizing frozen esophageal cells collected by balloon cytology samplers.
|
NA
|
{
"id": 1365,
"name": "CLDN3",
"pos": [
76,
5
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
324,
10
]
}
|
Klotho null mice are a model for premature aging and exhibit calcific nodules in the aortic valve hinge-region, but do not exhibit leaflet thickening, ECM disorganization, or inflammation.
|
NA
|
{
"id": 22915,
"name": "MMRN1",
"pos": [
151,
3
]
}
|
{
"id": "C0231341",
"name": "Premature aging syndrome",
"pos": [
33,
15
]
}
|
Cp-positive patients were all rheumatoid factor positive (11/11, 100% vs. 40/63, 63.5% Cp-negative; p=0.014), while no difference was noticed for anti-SSA/SSB positivity.
|
NA
|
{
"id": 6741,
"name": "SSB",
"pos": [
155,
3
]
}
|
{
"id": "C0151379",
"name": "Rheumatoid factor positive (finding)",
"pos": [
30,
26
]
}
|
Here, we report that HIF-1α promoted cap-dependent translation of selective mRNAs through up-regulation of eIF4E1 in hypoxic breast cancer cells.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
21,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
117,
7
]
}
|
Here we report that H19 expression is significantly decreased in the eutopic endometrium of women with endometriosis as compared to normal controls.
|
NA
|
{
"id": 283120,
"name": "H19",
"pos": [
20,
3
]
}
|
{
"id": "C0014175",
"name": "Endometriosis",
"pos": [
103,
13
]
}
|
Possible causes of isolated lissencephaly sequence include ischemia or viral infection during the time of neuronal migration, microdeletion within the Miller-Dieker syndrome critical region in chromosome band 17p13.3, and Mendelian inheritance.
|
NA
|
{
"id": 9856,
"name": "KIAA0319",
"pos": [
106,
18
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
59,
8
]
}
|
Among the mutations investigated, we previously found that PXN variant A127T in lung cancer cells enhanced cell proliferation and focal adhesion formation and colocalized with the anti-apoptotic protein B Cell Lymphoma 2 (BCL-2), which is known to localize to the mitochondria, among other sites.
|
genomic_alterations
|
{
"id": 5829,
"name": "PXN",
"pos": [
59,
3
]
}
|
{
"id": "C0079731",
"name": "B-Cell Lymphomas",
"pos": [
203,
15
]
}
|
In addition, 19 of 26 (74%) cancer lesions of these 11 cases with the RER phenotype showed alterations of the polyadenine tract in TGF-beta RII.
|
NA
|
{
"id": 3550,
"name": "IK",
"pos": [
70,
3
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
28,
6
]
}
|
Therefore, MMP1 and MMP10 but not MMP12 are potential oral cancer markers.
|
NA
|
{
"id": 4321,
"name": "MMP12",
"pos": [
34,
5
]
}
|
{
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
54,
11
]
}
|
Historical data indicate that pituitary tumors represent 10% of intracranial tumors, while adenomas are noted in approximately 14-23% of normal subjects on autopsy or magnetic resonance imaging (MRI).
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
195,
3
]
}
|
{
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
30,
16
]
}
|
The findings demonstrate that the selenite-induced cataract rat models were successfully built and the TMP eye drops can delay lens opacification induced by sodium selenite in rats.
|
NA
|
{
"id": 2012,
"name": "EMP1",
"pos": [
103,
3
]
}
|
{
"id": "C1708502",
"name": "Induced cataract",
"pos": [
43,
16
]
}
|
As compared with parent cells, hypoxia-selected T98G cells not only express higher levels of anti-apoptotic proteins such as Bcl-2, Bcl-X(L), and phosphorylated ERK, but they also have a more invasive potential in Matrigel invasion chambers.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
161,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
31,
7
]
}
|
Brain magnetic resonance imaging (MRI) showed diffuse leukoencephalopathy with confluent signal abnormalities in the periventricular white matter, basal ganglia, and centrum semiovale bilaterally.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
34,
3
]
}
|
{
"id": "C1868514",
"name": "Diffuse leukoencephalopathy",
"pos": [
46,
27
]
}
|
Classification and regression tree predictive model for prostate cancer including risk groups defined by PSA, free circulating DNA (fcDNA) level and GADD45a methylation yielded specificity of 87.5%, sensitivity of 94.1% and receiver operator characteristic curve area of 0.937.
|
NA
|
{
"id": 1647,
"name": "GADD45A",
"pos": [
149,
7
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
19,
10
]
}
|
Cox's multivariate regression models were used to estimate the mortality risk of gastric cancer.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
0,
5
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
19,
10
]
}
|
Exercise and low-fat diet interventions can decrease the TNF-alpha expression in insulin resistance rat.
|
therapeutic
|
{
"id": 7124,
"name": "TNF",
"pos": [
57,
9
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
81,
18
]
}
|
In addition to the aberrantly truncated RUNX1 protein, the DTX2 antisense sequence may play some role in the development of leukemia carrying the t(7;21) translocation.
|
NA
|
{
"id": 113878,
"name": "DTX2",
"pos": [
59,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
154,
13
]
}
|
Over-expression of CYP2E1 mRNA and protein: implications of xenobiotic induced damage in patients with de novo acute myeloid leukemia with inv(16)(p13.1q22); CBFβ-MYH11.
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
147,
3
]
}
|
{
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
111,
22
]
}
|
The Rett syndrome related to fragile X(P22) in caffeine-induced lymphocyte culture.
|
NA
|
{
"id": 11261,
"name": "CHP1",
"pos": [
39,
3
]
}
|
{
"id": "C0236734",
"name": "Caffeine related disorders",
"pos": [
47,
8
]
}
|
Novel sequence variations in the CER1 gene are strongly associated with low bone mineral density and risk of osteoporotic fracture in postmenopausal women.
|
genomic_alterations
|
{
"id": 9350,
"name": "CER1",
"pos": [
33,
4
]
}
|
{
"id": "C0521170",
"name": "Osteoporotic Fractures",
"pos": [
109,
21
]
}
|
Collectively, the data presented in this study suggest that a single peptide containing multiple SIM2 epitopes can be used to induce both a CD4 and CD8 T cell response, providing a peptide-based vaccine formulation for potential use in immunotherapy of various cancers.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
140,
3
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
261,
7
]
}
|
In our study we analyzed methylation of CpG islands in the MGMT and p16 genes in sporadic colorectal cancers and normal corresponding colonic mucosa.
|
NA
|
{
"id": 4255,
"name": "MGMT",
"pos": [
59,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
81,
8
]
}
|
A stepwise progressive increase in NT-pro CNP levels was recorded through controls, patients without ascites and patients with ascites (p< 0.05).
|
NA
|
{
"id": 1267,
"name": "CNP",
"pos": [
42,
3
]
}
|
{
"id": "C0003962",
"name": "Ascites",
"pos": [
127,
7
]
}
|
Western blotting analysis demonstrated that tumorigenesis related protein cyclin D1 and p21, as well as PTEN/AKT/PI3K signaling pathways were actively modulated by miR-218 in HCC cells.
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
88,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
44,
13
]
}
|
Here we report three individuals (two siblings and an unrelated individual) with severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination on MRI.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
230,
3
]
}
|
{
"id": "C0009081",
"name": "Congenital clubfoot",
"pos": [
124,
8
]
}
|
TP53 codon 72 polymorphism might be implicated in breast carcinogenesis, with the Arg/Arg genotype being associated with an increased susceptibility for this malignancy.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
0,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
158,
10
]
}
|
Thus, PXR might be involved in human diseases such as cancer and metabolic diseases.
|
biomarker
|
{
"id": 8856,
"name": "NR1I2",
"pos": [
6,
3
]
}
|
{
"id": "C0025517",
"name": "Metabolic Diseases",
"pos": [
65,
18
]
}
|
The methylation status of the promoter region of RASSF1A, p16INK4A and death-associated protein kinase (DAPK) genes was analyzed by methylation-specific PCR (MSP) in 41 surgically resected gliomas.
|
NA
|
{
"id": 89782,
"name": "LMLN",
"pos": [
158,
3
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
189,
7
]
}
|
In addition to its gas-binding ability, CYGB is relevant to hepatic inflammation, fibrosis, and cancer because of its anti-oxidative properties; however, the regulation of <i>CYGB</i> gene expression remains unknown.
|
biomarker
|
{
"id": 114757,
"name": "CYGB",
"pos": [
40,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
96,
6
]
}
|
In the study, real-time PCR was used to detect hRRM1 (rs12806698 C/A) and p53R2 (rs2290707 G/T) gene polymorphisms in Turkish HNSCC patients and healthy individuals.
|
genomic_alterations
|
{
"id": 50484,
"name": "RRM2B",
"pos": [
74,
5
]
}
|
{
"id": "C1168401",
"name": "Squamous cell carcinoma of the head and neck",
"pos": [
126,
5
]
}
|
This linkage may be particularly relevant in lung adenocarcinoma driven by epidermal growth factor receptor (EGFR) mutations, as these mutations have also been strongly linked to female gender, less-smoking history, adenocarcinoma histology and East Asian ethnicity.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
109,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
45,
19
]
}
|
This disease is characterised by a reciprocal t(9;22) chromosomal translocation, resulting in the formation of the Philadelphia (Ph) chromosome containing the BCR-ABL1 gene.
|
NA
|
{
"id": 613,
"name": "BCR",
"pos": [
159,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
54,
25
]
}
|
Hypochondroplasia (MIM 146000) is an autosomal dominant skeletal dysplasia with skeletal features similar to but milder than those seen in achondroplasia.
|
NA
|
{
"id": 9788,
"name": "MTSS1",
"pos": [
19,
3
]
}
|
{
"id": "C0001080",
"name": "Achondroplasia",
"pos": [
139,
14
]
}
|
In conclusion, combination treatment with humanized IL-1β and IL-17A antibodies demonstrates synergistic beneficial effects for preventing joint inflammation and cartilage destruction and bone damage in CIA mice model.
|
NA
|
{
"id": 3605,
"name": "IL17A",
"pos": [
62,
6
]
}
|
{
"id": "C4021973",
"name": "Cartilage destruction",
"pos": [
162,
21
]
}
|
We propose that the non-incidental coamplification of Myc and either ERBB2 or EGFR occurred through translocation and subsequent rearrangement.
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
69,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
100,
13
]
}
|
Patients with histologically confirmed, previously untreated, unresectable or metastatic KRAS wild-type biliary tract or gallbladder adenocarcinoma with ECOG performance status 0-2 were treated with panitumumab 6 mg kg(-1), GEM 1000 mg m(-2) (10 mg m(-2) min(-1)) and OX 85 mg m(-2) on days 1 and 15 of each 28-day cycle.
|
NA
|
{
"id": 2669,
"name": "GEM",
"pos": [
224,
3
]
}
|
{
"id": "C0279651",
"name": "Gallbladder adenocarcinoma",
"pos": [
121,
26
]
}
|
Given the implication of Paks in tumorigenesis, it is plausible that merlin's tumor suppressive function might be mediated, at least in part, via inhibition of the Paks.
|
NA
|
{
"id": 4771,
"name": "NF2",
"pos": [
69,
8
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
33,
13
]
}
|
The expression of intercellular adhesion molecule-1 (ICAM-1) could be demonstrated in synthetic SMC and was induced after infection of differentiated cells with recombinant adenovirus, coding for MCP-1 (AdMCP-1).
|
NA
|
{
"id": 6347,
"name": "CCL2",
"pos": [
196,
5
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
173,
10
]
}
|
We performed expression analysis of COP1 in ovarian and breast cancer tissue microarrays.
|
NA
|
{
"id": 114769,
"name": "CARD16",
"pos": [
36,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
56,
13
]
}
|
The study revealed a statistically significant co-variation (p<0.05) between meningiomas grade II associated with several clinicopathological features (Simpson grade of clinical resection, necrosis, nuclear atypia, macronucleoli, transition to small cell, sheet-like growth, high cellularity), increased expression of several biomarkers of tumour proliferation (Cyclin A, Cyclin E, MIB-1 or MDM2), proteases (Cathepsin D) or cell-adhesion (CD44) and lower expression of progesterone receptors than meningiomas grade I.
|
NA
|
{
"id": 960,
"name": "CD44",
"pos": [
440,
4
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
189,
8
]
}
|
Methylation status of miR-203 was significantly associated with microsatellite instability and MLH1 methylation in endometrial tumors (P<0.001).
|
NA
|
{
"id": 4292,
"name": "MLH1",
"pos": [
95,
4
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
64,
26
]
}
|
In view of the need for early AD diagnosis, brain Casp6 activity was investigated by measuring Tau cleaved by Casp6 (TauΔCasp6) protein in postmortem cerebrospinal fluid (CSF) of 7 non-cognitively impaired; 5 mild cognitively impaired; and 12 mild, moderate, and severe AD patients.
|
NA
|
{
"id": 839,
"name": "CASP6",
"pos": [
110,
5
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
243,
4
]
}
|
The hypoxia-induced microRNA-130a controls pulmonary smooth muscle cell proliferation by directly targeting CDKN1A.
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
108,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
4,
7
]
}
|
Applying ataxia telangiectasia as a model of immune ageing, pneumococcal vaccine responses, characteristically deficient in physiological ageing, are predicted by thymic naïve CD4+ T cell levels.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
176,
3
]
}
|
{
"id": "C0001811",
"name": "Aging",
"pos": [
138,
6
]
}
|
Hypo and hyperthyroidism influence the classic main components of the renin-angiotensin system.
|
genomic_alterations
|
{
"id": 5972,
"name": "REN",
"pos": [
70,
5
]
}
|
{
"id": "C0020550",
"name": "Hyperthyroidism",
"pos": [
9,
15
]
}
|
Our findings indicate that the father provided consistent haplotypes leading to the expression of SCN in all affected children, supporting an autosomal dominant inheritance in which ELA2 mutations occur.
|
genomic_alterations
|
{
"id": 1991,
"name": "ELANE",
"pos": [
182,
4
]
}
|
{
"id": "C1853118",
"name": "Severe congenital neutropenia",
"pos": [
98,
3
]
}
|
Unexpectedly, inhibition of ROS by either N-acetyl-L-cysteine (NAC), a peroxide inhibitor, or Tempol, a superoxide inhibitor, increased the annexin V-/propidium iodide (PI)+ early necrotic population in TRAIL-treated cells.
|
NA
|
{
"id": 8743,
"name": "TNFSF10",
"pos": [
203,
5
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
180,
8
]
}
|
To investigate the contribution of WISP3 to synovial inflammation, we evaluated its expression and regulation in arthritis.
|
NA
|
{
"id": 8838,
"name": "CCN6",
"pos": [
35,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
53,
12
]
}
|
BCL-2/IgH transcripts were demonstrated in 16 follicular center cell lymphoma cases (five high, 11 low) and were not present in any of the five non-neoplastic lymph nodes.
|
NA
|
{
"id": 596,
"name": "BCL2",
"pos": [
0,
5
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
144,
14
]
}
|
Responders are defined by the presence of three of four American College of Rheumatology criteria: > or =20% decrease in C-reactive protein (CRP), visual analogue score of disease activity, erythrocyte sedimentation rate and improvement of the disease activity score (28; four values) by > or =1.2 obtained at 3 months.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
141,
3
]
}
|
{
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
190,
30
]
}
|
Two thirds of the children were evaluated for a lupus anticoagulant and a deficiency of protein C and protein S; two thirds had one of these diagnosed.
|
NA
|
{
"id": 5624,
"name": "PROC",
"pos": [
88,
9
]
}
|
{
"id": "C4321325",
"name": "Lupus anticoagulant -- finding",
"pos": [
48,
19
]
}
|
Small interfering RNA-mediated suppression of LTBP-3 expression in mesothelioma cells increased the secretion of TGF-β activity.
|
NA
|
{
"id": 7040,
"name": "TGFB1",
"pos": [
113,
5
]
}
|
{
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
67,
12
]
}
|
We have characterized these repeats to determine if they might serve as effective microsatellite markers for linkage analysis to clarify whether SEL1L gene plays a role in the pathogenesis of these autoimmune diseases.
|
NA
|
{
"id": 6400,
"name": "SEL1L",
"pos": [
145,
10
]
}
|
{
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
198,
19
]
}
|
In suicide completers, levels of GRIN2B mRNA were higher in parietal cortex (+20%, p < 0.01) but lower (-35%, p = 0.02) in dorsolateral prefrontal cortex while post-synaptic density protein 95 was higher (+26%, p < 0.05) in anterior cingulate cortex.
|
NA
|
{
"id": 2904,
"name": "GRIN2B",
"pos": [
33,
6
]
}
|
{
"id": "C0038661",
"name": "Suicide",
"pos": [
3,
7
]
}
|
Unexpectedly, 12 patients (10 with aplastic anemia and 2 with myelodysplastic syndrome-refractory anemia, 2.1%), who showed clinical features similar to those of other BMF patients with GPI-AP(-) myeloid cells, such as a good response to immunosuppressive therapy, displayed 0.01-0.3% GPI-AP(-) cells exclusively in T cells.
|
NA
|
{
"id": 10007,
"name": "GNPDA1",
"pos": [
285,
3
]
}
|
{
"id": "C0002893",
"name": "Refractory anemias",
"pos": [
87,
17
]
}
|
Such as, apelin/APJ system may be concerned in hyperfunction of the sympathetic nervous system, renin-angiotensin-aldosterone system, endothelial injury, excessive endothelin, sodium retention, vascular remodeling, insulin resistance elicit hypertension, as well as in hypertension-induced organ damaged.
|
NA
|
{
"id": 187,
"name": "APLNR",
"pos": [
16,
3
]
}
|
{
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
194,
19
]
}
|
Immunohistochemical staining results showed abundant GNMT expression in normal prostatic and benign prostatic hyperplasia tissues, whereas it was diminished in 82.2% (37 of 45) of the prostate cancer tissues.
|
NA
|
{
"id": 27232,
"name": "GNMT",
"pos": [
53,
4
]
}
|
{
"id": "C1704272",
"name": "Benign Prostatic Hyperplasia",
"pos": [
93,
28
]
}
|
The aim of this study was to investigate promoter methylation of certain tumor suppressor genes, Cyclin-dependent kinase inhibitor 2A (p16) and Adenomatous polyposis coli (APC), which take part in gastrointestinal tumorigenesis.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
135,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
214,
13
]
}
|
Second, gene expression-based subtyping revealed three molecular subsets of KEAP1/NRF2-mutant lung adenocarcinomas and two molecular subsets of KEAP1/NRF2-mutant lung squamous cell carcinomas, each associated with distinguishing genetic, differentiation, immunological and clinicopathological properties.
|
genomic_alterations
|
{
"id": 2551,
"name": "GABPA",
"pos": [
82,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
94,
20
]
}
|
Each pair of tumors was analyzed for TP53 mutation, EGFR amplification, and loss of heterozygosity for tumor suppressor genes (TP53, RB1, CDKN2A, PTEN, DMBT1) and tumor suppressor gene regions (1p36, 19q13, 11p15, 10p15) known to be frequently implicated in glioma tumorigenesis.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
138,
6
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
265,
13
]
}
|
We present 2 cases of liposarcoma arising in the vulva: a myxoid liposarcoma harboring DDIT3 and FUS rearrangements and a well differentiated liposarcoma/atypical lipomatous tumor harboring MDM2 amplification detected by fluorescence in situ hybridization.
|
genomic_alterations
|
{
"id": 2521,
"name": "FUS",
"pos": [
97,
3
]
}
|
{
"id": "C0206634",
"name": "Liposarcoma, Myxoid",
"pos": [
58,
18
]
}
|
MiaPaca-2 cells undergo apoptosis at a significantly increased rate after restoration of the E-cadherin/beta-catenin adhesion complex.
|
NA
|
{
"id": 999,
"name": "CDH1",
"pos": [
93,
10
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
117,
8
]
}
|
Cysteine string protein (CSPα) is a presynaptic J protein co-chaperone that opposes neurodegeneration.
|
NA
|
{
"id": 80331,
"name": "DNAJC5",
"pos": [
0,
23
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
84,
17
]
}
|
In this study, we found that aspirin inhibited TNF-alpha (10 ng/ml)-induced MCP-1 and IL-8 expression at the RNA and protein levels in human umbilical vein endothelial cells (HUVECs), monocyte adhesion and transmigration, and that its inhibitory effects were not due to decreased HUVEC viability as assessed by MTT test.
|
NA
|
{
"id": 6347,
"name": "CCL2",
"pos": [
76,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
193,
8
]
}
|
p53 mutations were also frequent in pyothorax-associated lymphoma (PAL), a lymphoma that develops in patients with long-standing pyothorax, so p53 mutations might be frequent in malignancies that develop in chronic inflammatory sites.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
143,
3
]
}
|
{
"id": "C0014013",
"name": "Empyema, Pleural",
"pos": [
129,
9
]
}
|
Genetic deficiencies in the limited number of effector molecules (SHP-1 and SHIP) lead to more dramatic effects on hematopoietic cells and level of inflammation in such animals.
|
NA
|
{
"id": 5777,
"name": "PTPN6",
"pos": [
66,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
148,
12
]
}
|
Detection of epithelial to mesenchymal transition in airways of a bleomycin induced pulmonary fibrosis model derived from an alpha-smooth muscle actin-Cre transgenic mouse.
|
NA
|
{
"id": 70,
"name": "ACTC1",
"pos": [
131,
19
]
}
|
{
"id": "C0034069",
"name": "Pulmonary Fibrosis",
"pos": [
84,
18
]
}
|
We investigated whether the mRNA and protein expression of GAT-1, the dominant neuronal GABA transporter, is altered after cortical infarct induced by photothrombosis in Wistar rats.
|
NA
|
{
"id": 6529,
"name": "SLC6A1",
"pos": [
88,
16
]
}
|
{
"id": "C0021308",
"name": "Infarction",
"pos": [
132,
7
]
}
|
The results showed a 2.4-fold (CI = 1.31-4.41) increased risk of lung cancer in GSTT1 null-genotype carriers but no significant effects of the polymorphisms in GSTM1, GSTM3, GSTP1-105 or GSTP1-114.
|
genomic_alterations
|
{
"id": 2952,
"name": "GSTT1",
"pos": [
80,
5
]
}
|
{
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
65,
11
]
}
|
In contrast, biallelic loss-of-function variants in LAMB3 cause recessive junctional epidermolysis bullosa, characterized by life-threatening skin fragility.
|
genomic_alterations
|
{
"id": 3914,
"name": "LAMB3",
"pos": [
52,
5
]
}
|
{
"id": "C0079301",
"name": "Junctional Epidermolysis Bullosa",
"pos": [
74,
32
]
}
|
We previously generated genetically engineered mouse (GEM) models based on perturbation of Tp53 and Rb with or without Brca1 or Brca2 that develop serous epithelial ovarian cancer (SEOC) closely resembling the human disease on histologic and molecular levels.
|
NA
|
{
"id": 2669,
"name": "GEM",
"pos": [
54,
3
]
}
|
{
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
154,
25
]
}
|
Somatic reductions of the androgen receptor CAG repeat thus occur frequently, through a pathway distinct from microsatellite instability and early during colon carcinogenesis.
|
NA
|
{
"id": 367,
"name": "AR",
"pos": [
26,
17
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
110,
26
]
}
|
In 15 of 34 cases with germline or somatic RET proto-oncogene mutations determined, 10 cases had a germline mutation, and 1 had only a somatic mutation.
|
NA
|
{
"id": 5979,
"name": "RET",
"pos": [
43,
18
]
}
|
{
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
135,
16
]
}
|
We previously reported that the adenovirus-mediated transfer of p63 or p73 showed an effective cancer-killing effect similar to that of p53.
|
NA
|
{
"id": 10970,
"name": "CKAP4",
"pos": [
64,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
32,
10
]
}
|
Forty-four patients with DM1 (22 females, 22 males) were reviewed of whom 14 (32%) had elevated corrected serum calcium and inappropriate PTH.
|
biomarker
|
{
"id": 5741,
"name": "PTH",
"pos": [
138,
3
]
}
|
{
"id": "C3250443",
"name": "MYOTONIC DYSTROPHY 1",
"pos": [
25,
3
]
}
|
NAP given 4 but not 6 hours after permanent middle cerebral artery occlusion still conferred significant neuroprotection (infarct volume 10.9+/-3.9% of hemispheric volume; P<0.05 versus vehicle).
|
NA
|
{
"id": 56259,
"name": "CTNNBL1",
"pos": [
0,
3
]
}
|
{
"id": "C0740391",
"name": "Middle Cerebral Artery Occlusion",
"pos": [
44,
32
]
}
|
Although based on a single case, these data indicate that structural rather than numerical abnormalities of the ALK gene are implicated in the pathogenesis of anaplastic large cell lymphomas.
|
NA
|
{
"id": 238,
"name": "ALK",
"pos": [
112,
8
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
91,
13
]
}
|
To evaluate the influence of SPC18 on cell growth in vivo, GC cells were injected into severe combined immunodeficiency mice.
|
NA
|
{
"id": 23478,
"name": "SEC11A",
"pos": [
29,
5
]
}
|
{
"id": "C0085110",
"name": "Severe Combined Immunodeficiency",
"pos": [
87,
32
]
}
|
EBV expression in OHL included expression of some viral genes, usually expressed in latent infections, that induce the EBV receptor.
|
NA
|
{
"id": 1380,
"name": "CR2",
"pos": [
119,
12
]
}
|
{
"id": "C3714514",
"name": "Infection",
"pos": [
91,
10
]
}
|
In the thyroid, increased levels of PRDX1 has been described in follicular adenomas and carcinomas, as well as in thyroiditis, while reduced levels of PRDX6 has been found in follicular adenomas.
|
NA
|
{
"id": 25824,
"name": "PRDX5",
"pos": [
151,
5
]
}
|
{
"id": "C0040147",
"name": "Thyroiditis",
"pos": [
114,
11
]
}
|
Furthermore, Western blot analysis showed that the pain inhibition induced by Cx43 siRNA correlated with downregulation of Cx43 expression, but not that of Cx36 (the neuronal gap junction protein) or glial fibrillary acidic protein (GFAP, a marker for reactive astrocytes) in the spinal cord of SNL rats.
|
NA
|
{
"id": 57369,
"name": "GJD2",
"pos": [
156,
4
]
}
|
{
"id": "C0030193",
"name": "Pain",
"pos": [
51,
4
]
}
|
In a recent case-control study of Alzheimer's disease (AD), a regulatory polymorphism in DAT1 showed a significant association with the clinical stages of dementia.
|
genomic_alterations
|
{
"id": 6531,
"name": "SLC6A3",
"pos": [
89,
4
]
}
|
{
"id": "C0011265",
"name": "Presenile dementia",
"pos": [
155,
8
]
}
|
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