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dict |
|---|---|---|---|
The casual blood pressure levels and the average ambulatory blood pressure levels were similar among the three ACE genotypes. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
111,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
11,
14
]
} |
Collectively, our results suggest that WT1-dependent Bcl-xL overexpression contributes to TRAIL resistance in myeloid leukemias. | NA | {
"id": 598,
"name": "BCL2L1",
"pos": [
53,
6
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
110,
17
]
} |
Common SNPs in ADIPOR2 are associated with LFT in T2DM subjects, which suggests a possible role of this receptor in liver dysfunction associated with insulin resistance. | NA | {
"id": 167410,
"name": "LIX1",
"pos": [
43,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
150,
18
]
} |
In the seven children who developed shock with NPMODS compared to eight patients with shock without NPMODS and 12 patients with severe sepsis only, we found more profound coagulopathy [thrombocytopenia (<i>p</i> = 0.04), elevated INR (<i>p</i> = 0.038), low fibrinogen level (<i>p</i> = 0.049), and low TEG-G value (<i>p</i> = 0.01)] and higher peak of interleukin-6 (<i>p</i> = 0.0014) and IL-10 (<i>p</i> = 0.007). | genomic_alterations | {
"id": 3569,
"name": "IL6",
"pos": [
401,
13
]
} | {
"id": "C0040034",
"name": "Thrombocytopenia",
"pos": [
185,
16
]
} |
Three loci (SH2B1, MTCH2 and NEGR1) were associated with decreased insulin sensitivity at a nominal significance (P ≤ 0.05) after adjustment for BMI, but did not hold for multiple comparison correction. | NA | {
"id": 257194,
"name": "NEGR1",
"pos": [
29,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
67,
19
]
} |
RBP1-20-immunized C57BL/6 Anx-A1(-/-) mice exhibit significantly enhanced retinal inflammation and pathology as a result of an uncontrolled proliferation and activation of Th17 cells. | NA | {
"id": 5926,
"name": "ARID4A",
"pos": [
0,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
82,
12
]
} |
Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis. | NA | {
"id": 646982,
"name": "LINC00598",
"pos": [
39,
3
]
} | {
"id": "C0598766",
"name": "Leukemogenesis",
"pos": [
137,
14
]
} |
Germline mutations in the BRCA2 gene have been shown to be associated with familial female and male breast cancer. | genomic_alterations | {
"id": 675,
"name": "BRCA2",
"pos": [
26,
5
]
} | {
"id": "C0238033",
"name": "Carcinoma of Male Breast",
"pos": [
95,
18
]
} |
A metabolic and neurological disorder reminiscent of human NPC disease has been described in Balb/C mice, and it was recently shown that the mutation in the NPC mice resides in the orthologous murine Npc1 gene. | genomic_alterations | {
"id": 4864,
"name": "NPC1",
"pos": [
200,
4
]
} | {
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
16,
21
]
} |
2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia. | genomic_alterations | {
"id": 9378,
"name": "NRXN1",
"pos": [
52,
5
]
} | {
"id": "C0004352",
"name": "Autistic Disorder",
"pos": [
154,
6
]
} |
The expression of MIF and interleukin 8 (IL-8) was evaluated in 36 high-grade gliomas (20 glioblastoma multiforme, 13 anaplastic astrocytoma, and 3 anaplastic oligoastrocytoma) and 32 low-grade gliomas (18 fibrillary astrocytoma, 5 pilocytic astrocytoma, 5 oligodendroglioma, 3 ependymoma and 1 pleomorphic xanthoastrocytoma) by immunostaining. | NA | {
"id": 268,
"name": "AMH",
"pos": [
18,
3
]
} | {
"id": "C0431108",
"name": "Anaplastic Oligoastrocytoma",
"pos": [
148,
27
]
} |
HCS should be recognized as a distinct thalassemia syndrome with a high risk of life-threatening anemia during febrile illnesses. | NA | {
"id": 54205,
"name": "CYCS",
"pos": [
0,
3
]
} | {
"id": "C0039730",
"name": "Thalassemia",
"pos": [
39,
20
]
} |
P1 showed a prominent central island of retinal pigment epithelium (RPE) surrounded by alternating elliptical-appearing areas of decreased and increased pigmentation. | NA | {
"id": 6120,
"name": "RPE",
"pos": [
68,
3
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
153,
12
]
} |
Previously, a single nucleotide polymorphism (SNP), rs9939609, in the FTO gene showed a much stronger association with all-cause mortality than expected from its association with body mass index (BMI), body fat mass index (FMI) and waist circumference (WC). | NA | {
"id": 10076,
"name": "PTPRU",
"pos": [
223,
3
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
232,
19
]
} |
We investigated, using real-time quantitative PCR, the expression of the neutrophil chemoattractants alpha-chemokines CXCL1 (Groalpha) and CXCL8 (IL-8), and of the monocyte chemoattractant beta-chemokine CCL2 (MCP-1) by human brain microvascular endothelial cells (HBMEC) in response to the meningitis-causing E. coli K1 strain RS218 or its isogenic mutants lacking the ability to bind to and invade HBMEC. | NA | {
"id": 6347,
"name": "CCL2",
"pos": [
210,
5
]
} | {
"id": "C0025289",
"name": "Meningitis",
"pos": [
291,
10
]
} |
Recently, in a large ET family (FET1) from Quebec, a non-sense mutation (p.Q290X) in the amyotrophic lateral sclerosis (ALS) gene fused in sarcoma/translated in liposarcoma (FUS/TLS) was identified by exome sequencing. | genomic_alterations | {
"id": 6647,
"name": "SOD1",
"pos": [
120,
3
]
} | {
"id": "C0270736",
"name": "Essential Tremor",
"pos": [
21,
2
]
} |
The Tel-Abl (ETV6-Abl) tyrosine kinase, product of complex (9;12) translocations in human leukemia, induces distinct myeloproliferative disease in mice. | genomic_alterations | {
"id": 2120,
"name": "ETV6",
"pos": [
13,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
90,
8
]
} |
MRC failed to detect any polyp <10 mm. | NA | {
"id": 4345,
"name": "CD200",
"pos": [
0,
3
]
} | {
"id": "C0032584",
"name": "polyps",
"pos": [
25,
5
]
} |
Induction of dedifferentiation resulted in the upregulation of nonmuscle myosin heavy chain expression, a marker of dedifferentiation, and the downregulation of smooth muscle myosin heavy chain expression, a marker of differentiation. | NA | {
"id": 4629,
"name": "MYH11",
"pos": [
161,
32
]
} | {
"id": "C0002793",
"name": "Anaplasia",
"pos": [
116,
17
]
} |
To define the mechanism by which the inhibition of NHE1 decreases hypoxic pulmonary hypertension and vascular remodeling, we investigated the role of E2F1, a nuclear transcription factor, in silencing the NHE1 gene-induced inhibition of the proliferation, hypertrophy, and migration of human PASMCs. | NA | {
"id": 1869,
"name": "E2F1",
"pos": [
150,
4
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
101,
19
]
} |
We carried out cytogenetic and FISH studies on 42 children with ALL in order to know the frequency of this translocation in our population, the incidence of TEL and/or AML1 gene alterations, and their correlation with clinical evolution and prognosis. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
157,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
107,
13
]
} |
Growth inhibition, loss of clonogenicity, ataxia telangiectasia mutated (ATM) activation, H2AX phosphorylation, TP53 stabilization, CDKN1A induction, G2/M arrests, endoreduplication, negligible cell death and appearance of a senescence-associated beta-galactosidase phenotype were observed. | NA | {
"id": 3014,
"name": "H2AX",
"pos": [
90,
4
]
} | {
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
49,
14
]
} |
So far, ITIH molecules have been shown to play a particularly important role in inflammation and carcinogenesis. | NA | {
"id": 3697,
"name": "ITIH1",
"pos": [
8,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
80,
12
]
} |
Our results suggest that the higher prevalence of sporadic AD in women may be attributable to the vulnerability of female brains (especially, the hippocampus) to stressful events, which alter APP processing to favor the β-amyloidogenesis through the transcriptional and translational upregulation of BACE1 combined with elevations in its substrate APP. | NA | {
"id": 351,
"name": "APP",
"pos": [
348,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
50,
8
]
} |
Responding patients demonstrated regression of both injected and noninjected lesions highlighting the dual mechanism of action of Oncovex(GM-CSF) that includes both a direct oncolytic effect in injected tumors and a secondary immune-mediated anti-tumor effect on noninjected tumors. | NA | {
"id": 1437,
"name": "CSF2",
"pos": [
138,
6
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
33,
10
]
} |
In the present study, we examined the mechanisms underlying CXCL2 regulation by SHP and the cell types involved in liver inflammation. | biomarker | {
"id": 2920,
"name": "CXCL2",
"pos": [
60,
5
]
} | {
"id": "C0019158",
"name": "Hepatitis",
"pos": [
115,
18
]
} |
Novel WT1 mutation, 11p LOH, and t(7;12) (p22;q22) chromosomal translocation identified in a Wilms' tumor case. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
42,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
51,
25
]
} |
On multivariate Cox regression, a higher E-cadherin expression score was associated with decreased overall mortality [hazard ratio (HR), 0.59; 95% confidence interval (CI), 0.34-1.03; P = 0.066), and statistically significant decreases in endometrial cancer mortality (HR, 0.23; 95% CI, 0.055-0.94; P = 0.040), disease progression (HR, 0.28; 95% CI, 0.10-0.77; P = 0.014), and extrapelvic recurrence (HR, 0.24; 95% CI, 0.062-0.97; P = 0.045). | NA | {
"id": 999,
"name": "CDH1",
"pos": [
41,
10
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
20,
10
]
} |
Such suggestions are relevant mainly for people at putatively high risk of developing AD (i.e., older adults with mild cognitive impairment subtypes) or PD (i.e., older adults with either Mild Parkinsonian signs or LRRK2 G2019S mutation). | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
215,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
153,
2
]
} |
Overexpression of copper/zinc superoxide dismutase in transgenic mice protects against neuronal cell death after transient focal ischemia by blocking activation of the Bad cell death signaling pathway. | therapeutic | {
"id": 6647,
"name": "SOD1",
"pos": [
30,
22
]
} | {
"id": "C0751019",
"name": "Carotid Circulation Transient Ischemic Attack",
"pos": [
129,
8
]
} |
One single nucleotide polymorphism (SNP) in the gene encoding P53 (Arg72Pro, RS1042522), one dinucleotide polymorphism (G4C14-to-A4T14, RS 2273953, RS1801173) in the gene encoding P73, and two further SNPs in the same gene (-386 G/A, RS3765728; exon 5 T/C, RS1801174) were studied to determine whether DNA variations could influence the occurrence of the disease in a sample of Italian subjects with the sporadic late-onset form of AD. | NA | {
"id": 7161,
"name": "TP73",
"pos": [
180,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
404,
8
]
} |
Knockout of P2Y<sub>12</sub> aggravates experimental autoimmune encephalomyelitis in mice via increasing of IL-23 production and Th17 cell differentiation by dendritic cells. | biomarker | {
"id": 51561,
"name": "IL23A",
"pos": [
120,
5
]
} | {
"id": "C0014070",
"name": "Encephalomyelitis",
"pos": [
76,
17
]
} |
We combined the previously described Notch1 intramembrane proteolysis-Cre (Nip1::Cre) allele with a floxed Notch1 allele to create a mouse model for sporadic, low-frequency loss of Notch1 heterozygosity. | NA | {
"id": 662,
"name": "BNIP1",
"pos": [
75,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
149,
8
]
} |
The ADD1 Gly460Trp polymorphism is significantly associated with an increased risk of coronary artery disease as well as blood pressure, indicating that ADD1 plays a role in the pathogenesis of coronary artery disease as well as hypertension. | NA | {
"id": 118,
"name": "ADD1",
"pos": [
153,
4
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
121,
14
]
} |
In the CAM experimental glioma, IL6 or VEGF knockdown reduced growth and vascularization of the tumors with a comparable efficiency, but increased invasion of residual tumor cells. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
32,
3
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
159,
14
]
} |
When proteasome activity is blocked in the presence of wild-type DJ-1, TTRAP forms aggregates that are localized to the cytoplasm or associated to nucleolar cavities, where it is required for a correct rRNA biogenesis. | NA | {
"id": 51567,
"name": "TDP2",
"pos": [
71,
5
]
} | {
"id": "C0011334",
"name": "Dental caries",
"pos": [
157,
8
]
} |
CHOP deficiency accentuated atrophy in both AR113Q and surgically denervated muscle through activation of macroautophagy, a lysosomal protein quality control pathway. | NA | {
"id": 1649,
"name": "DDIT3",
"pos": [
0,
4
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
28,
7
]
} |
The panel gene methylation frequencies were 29% of sporadic breast cancers for p16, 32% for BRCA1 and 82% for 14-3-3sigma; all were significantly associated with grades and estrogen receptor status. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
79,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
51,
8
]
} |
We show here that one allele of the alphaE-catenin (CTNNA1) gene is mutated in the human colon cancer cell family HCT-8, which is identical to HCT-15, DLD-1 and HRT-18. | genomic_alterations | {
"id": 1495,
"name": "CTNNA1",
"pos": [
52,
6
]
} | {
"id": "C0007102",
"name": "Malignant tumor of colon",
"pos": [
89,
12
]
} |
The second objective is to find an association between polymorphisms G8002A and -3A/4A EDN-1 with diabetes mellitus (DM), peripheral artery disease (PAD) and myocardial infarction (MI) in patients with chronic heart failure (CHF). | NA | {
"id": 6036,
"name": "RNASE2",
"pos": [
87,
3
]
} | {
"id": "C1704436",
"name": "Peripheral Arterial Diseases",
"pos": [
122,
25
]
} |
The RAGE binds multiple ligand families linked to hyperglycemia, aging, inflammation, neurodegeneration, and cancer. | NA | {
"id": 177,
"name": "AGER",
"pos": [
4,
4
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
86,
17
]
} |
IL-1B and IL-1RN polymorphisms were investigated in 138 H. pylori-negative Italian patients with sporadic gastric cancer and 100 H. pylori-negative controls. | NA | {
"id": 3553,
"name": "IL1B",
"pos": [
0,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
97,
8
]
} |
Therefore, this work has been focused on post-transductional (ACTH) signal alterations and in particular on the mutational analysis of the Steroid Acute Regulatory protein (StAR) gene to verify whether somatic mutations or genomic polymorphisms of this gene may be correlated with adrenal tumorigenesis. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
62,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
289,
13
]
} |
Here, we report four patients with persistent nontuberculous mycobacterial infection who had heterozygous MPEG1 mutations. | genomic_alterations | {
"id": 219972,
"name": "MPEG1",
"pos": [
106,
5
]
} | {
"id": "C0026918",
"name": "Mycobacterium Infections",
"pos": [
61,
23
]
} |
By inhibiting these cytokines, the ATF3 molecule may hold the potential to provide future epigenetic therapy against inflammation-induced renal injury. | NA | {
"id": 467,
"name": "ATF3",
"pos": [
35,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
117,
12
]
} |
The phenotype of BAP31 mutations has been reported only as a part of Xq28 deletion syndrome or contiguous ATP-binding cassette, sub-family D, member 1 (ABCD1)/DXS1375E (BAP31) deletion syndrome [MIM ID #300475], where liver dysfunction and sensorineural deafness have been suggested to be attributed to the loss of function of BAP31. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
195,
3
]
} | {
"id": "C0086565",
"name": "Liver Dysfunction",
"pos": [
218,
17
]
} |
The brain Magnetic Resonance Imaging (MRI) of these patients revealed morphological abnormalities including mild hypoplasia of the corpus callosum, and atrophy of superior, middle, and inferior peduncles of the cerebellum. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
38,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
84,
13
]
} |
Mixed lineage leukemia (MLL) abnormalities occur in approximately 50% of childhood pro-B acute lymphoblastic leukemia (ALL). | NA | {
"id": 4297,
"name": "KMT2A",
"pos": [
24,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
29,
13
]
} |
Furthermore, in intestinal tumors PROX1 is a direct and dose-dependent target of the beta-catenin/TCF signaling pathway, responsible for the neoplastic transformation. | NA | {
"id": 5629,
"name": "PROX1",
"pos": [
34,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
141,
25
]
} |
Early WP1066 administration reduces known downstream targets of STAT3 transcription 24h after SE including cyclin D1 and mcl-1 levels, known for their roles in cell-cycle progression and cell survival, respectively. | therapeutic | {
"id": 595,
"name": "CCND1",
"pos": [
107,
9
]
} | {
"id": "C0038220",
"name": "Status Epilepticus",
"pos": [
94,
2
]
} |
The mutations/polymorphisms studied included Factor V Leiden, prothrombin variant G20210A, beta-fibrinogen 448 (G/A), endothelial protein C receptor (23-base pair insertion), methyl tetrahydrofolate reductase 677 (C/T), platelet glycoprotein IIIa PlA1/A2, plasminogen activator inhibitor-1 4G/5G, angiotensin II type 1 receptor (A/C), hemochromatosis gene 282 (G/A), nitric oxide synthase (NOS) (3 forms: eNOS, eNOS3, eNOS4), p22 phox of NADPH oxidase C242T, and angiotensin-converting enzyme insertion/deletion polymorphism. | NA | {
"id": 3690,
"name": "ITGB3",
"pos": [
220,
26
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
96,
10
]
} |
In this model, fibrosis may be a CD8+ T-cell-mediated disease that is attenuated by rIL-10. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
33,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
15,
8
]
} |
To study the relationship between the expression of soluble drug resistance-related calcium-binding protein (sorcin) gene and the clinical multidrug resistance in acute leukemia (AL). | NA | {
"id": 6717,
"name": "SRI",
"pos": [
109,
6
]
} | {
"id": "C0085669",
"name": "Acute leukemia",
"pos": [
163,
14
]
} |
To clarify the factors involved in resistance to these drugs, we established two NB-506-resistant mouse fibroblast cell lines (LY/NR1 and LY/NR2), a human colon carcinoma cell line (HCT116/NR1), and a lung cancer cell line (PC13/NR1). | NA | {
"id": 2902,
"name": "GRIN1",
"pos": [
229,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
155,
15
]
} |
In the present case-control study, we aimed at estimation of the relationship between the GSTM1, GSTT1, and GSTP1 genotypes and the susceptibility to various types of childhood malignancies and the early relapses of diseases. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
97,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
177,
12
]
} |
In conclusion, the combination of HFE-haemochromatosis and occult HBV infection in this patient might have led to a sequel of cellular events that determined the development of HCC even in the absence of cirrhosis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
177,
3
]
} | {
"id": "C0018995",
"name": "Hemochromatosis",
"pos": [
38,
16
]
} |
Atrophic body gastritis (ABG) was associated with pepsinogen PGI/PGII < 3.4 (OR = 4.9; P < 0.04) and alcohol consumption (OR = 7.3; P < 0.02). | NA | {
"id": 1,
"name": "A1BG",
"pos": [
25,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
101,
19
]
} |
We assessed the intrinsic and practical value, from the US healthcare system perspective, of prospective HLA-B*5701 screening among a population of antiretroviral-naive patients without elevated risk factors for cardiovascular disease, plasma HIV RNA >100,000 copies/mL, or pre-existing renal insufficiency. | genomic_alterations | {
"id": 3106,
"name": "HLA-B",
"pos": [
105,
5
]
} | {
"id": "C0035078",
"name": "Kidney Failure",
"pos": [
290,
19
]
} |
The present findings indicate that the rs1126442 of GRIN1 contributes to the genetic vulnerability to psychosis in METH-dependent subjects in the Thai population. | NA | {
"id": 114787,
"name": "GPRIN1",
"pos": [
52,
5
]
} | {
"id": "C0033975",
"name": "Psychotic Disorders",
"pos": [
102,
9
]
} |
The present study provided evidence that RTN4 CAA/TATC polymorphisms were associated with HCC development in Chinese Han population. | genomic_alterations | {
"id": 57142,
"name": "RTN4",
"pos": [
41,
4
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
90,
3
]
} |
Circulating heat shock protein 70 (Hsp70) is present in the circulation of healthy individuals and in patients with various disorders, including chronic heart failure (CHF). | NA | {
"id": 3308,
"name": "HSPA4",
"pos": [
35,
5
]
} | {
"id": "C0264716",
"name": "Chronic heart failure",
"pos": [
145,
21
]
} |
Vasospasm is a prolonged constriction of a cerebral artery that is induced by hemoglobin after subarachnoid hemorrhage (SAH). | NA | {
"id": 6296,
"name": "ACSM3",
"pos": [
120,
3
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
78,
10
]
} |
These data describe the first mouse model of dementia caused by CHMP2B mutation and provide new insights into the mechanisms of CHMP2B-induced neurodegeneration. | genomic_alterations | {
"id": 25978,
"name": "CHMP2B",
"pos": [
128,
6
]
} | {
"id": "C0497327",
"name": "Dementia",
"pos": [
45,
8
]
} |
Previous studies have shown that up-regulation of AQP1 and AQP4, two of the predominant AQPs in the human brain, in high grade glial tumors contribute to cerebral edema. | NA | {
"id": 358,
"name": "AQP1",
"pos": [
50,
4
]
} | {
"id": "C0006114",
"name": "Cerebral Edema",
"pos": [
154,
14
]
} |
We used high resolution mate-pair sequencing (HRMPS) in 15 patients with primary myelofibrosis (PMF): eight with normal karyotype and seven with PMF-characteristic cytogenetic abnormalities, including der(6)t(1;6)(q21-23;p21.3) (n = 4), der(7)t(1;7)(q10;p10) (n = 2), del(20)(q11.2q13.3) (n = 3), and complex karyotype (n = 1). | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
221,
3
]
} | {
"id": "C0001815",
"name": "Primary Myelofibrosis",
"pos": [
73,
21
]
} |
Survival analyses revealed the patients with FAK FISH+ breast cancer had significantly shorter overall survival and relapse-free survival compared to those with FISH- breast cancer. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
161,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
167,
13
]
} |
The tumours were longitudinally monitored in vivo using multispectral MRI employing two differently sized contrast agents (Gd-DTPA-BMA and Gadomer) to assess vascular leakiness, vasogenic oedema, tumour volumes and necrosis. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
70,
3
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
188,
6
]
} |
In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. | NA | {
"id": 2548,
"name": "GAA",
"pos": [
248,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
133,
13
]
} |
Only 1/25 tumors, a seminoma with distant metastases, had a point mutation in the coding region of the nm23-H2 gene as demonstrated by SSCP analysis. | NA | {
"id": 4831,
"name": "NME2",
"pos": [
103,
7
]
} | {
"id": "C0036631",
"name": "Seminoma",
"pos": [
20,
8
]
} |
Mutations in LRRK2 are associated with inherited Parkinson's disease (PD) in a large number of families, and the genetic locus containing the LRRK2 gene contains a risk factor for sporadic PD. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
142,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
180,
8
]
} |
The observation that the synthetically engineered analogue of murine CD4 inhibits inflammation in a rodent disease model by different mechanisms than anti-CD4 antibody suggests that a human version of this peptide has potential therapeutic utility in CD4+ mucosal T cell-mediated intestinal inflammation in Crohn's disease. | NA | {
"id": 920,
"name": "CD4",
"pos": [
251,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
291,
12
]
} |
[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]. | NA | {
"id": 5236,
"name": "PGM1",
"pos": [
45,
4
]
} | {
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
90,
22
]
} |
NHERF-2 promoted migration and invasion of colon cancer cells, whereas MAGI-3 inhibited these processes. | NA | {
"id": 260425,
"name": "MAGI3",
"pos": [
71,
6
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
43,
12
]
} |
Rapamycin (RAPA), an immunosuppressive drug, has been shown to reverse KS growth and to reduce tumor angiogenesis. | NA | {
"id": 55809,
"name": "TRERF1",
"pos": [
11,
4
]
} | {
"id": "C1519670",
"name": "Tumor Angiogenesis",
"pos": [
95,
18
]
} |
Various concentrations of a mixture of collagenase/dispase or trypsin were inoculated into xenografts of human glioblastoma multiforme-derived brain tumor cell lines U87, U251, and SF767. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
166,
3
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
143,
11
]
} |
Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder, affects fragile X (FMR1) gene premutation carriers in late life. | genomic_alterations | {
"id": 2332,
"name": "FMR1",
"pos": [
102,
4
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
55,
26
]
} |
The association with increased proinsulin:insulin ratio after an OGTT suggests that TCF7L2 might be involved in insulin synthesis and processing. | NA | {
"id": 6934,
"name": "TCF7L2",
"pos": [
84,
6
]
} | {
"id": "C4703595",
"name": "Increased proinsulin:insulin ratio",
"pos": [
21,
34
]
} |
In this study we show that in post-mortem brains of sporadic PD patients TTRAP is associated to the nucleolus and to Lewy Bodies, cytoplasmic aggregates considered the hallmark of the disease. | NA | {
"id": 51567,
"name": "TDP2",
"pos": [
73,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
52,
8
]
} |
We devised a new strategy for the AFP TRE to control an artificial E1A-IRES-E1B bicistronic cassette in an adenovirus 5 vector (Ad5) and constructed an HCC-specific oncolytic virus, CV890. | NA | {
"id": 174,
"name": "AFP",
"pos": [
34,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
107,
10
]
} |
MAGE-A expression was absent from adenocarcinomas with KRAS mutations, but not significantly different in tumors with or without EGFR mutations. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
129,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
106,
6
]
} |
Japanese patients with SLE (n=716), those with rheumatoid arthritis (RA) (n=327), and healthy control subjects (n=351) were genotyped for the rs105179200528032;133482;22914;25797;3123;3458;373156">rs1051792</span>" genes_norm="100507436;3123">Val129 Met</span> polymorphism (rs1051792) and transmembrane (TM) alanine-encoding GCT repeats, termed A4, A5, A5.1, A6, and A9, in the MICA gene. | genomic_alterations | {
"id": 100507436,
"name": "MICA",
"pos": [
379,
4
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
47,
20
]
} |
We detected nominal evidence of association (P < 0.05) between the SLC22A2 (SNPs rs653753, rs596881, and rs316019) and SLC22A3 (SNPs rs376563, rs2048327, rs2457576, and rs1567438) genes and DN and hypertension in Finnish men with T1DM. | genomic_alterations | {
"id": 6581,
"name": "SLC22A3",
"pos": [
122,
7
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
200,
12
]
} |
The functions of LZAP in the proliferation, colony formation, cell cycle, migration, invasion and apoptosis of HCC cell lines were also analyzed by infecting cells with an adenovirus containing full-length LZAP. | NA | {
"id": 80279,
"name": "CDK5RAP3",
"pos": [
206,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
172,
10
]
} |
CCND1, EMS1, PIK3CA, and ERBB1 amplifications are uncommon and appear to be late events in the development of ethmoid sinus adenocarcinoma. | biomarker | {
"id": 1956,
"name": "EGFR",
"pos": [
25,
5
]
} | {
"id": "C1333472",
"name": "Ethmoid Sinus Adenocarcinoma",
"pos": [
110,
28
]
} |
GP73 mRNA levels were measured in mice with a deletion of the WD gene (Atp7b(-/-)) by real-time PCR, and these values were compared to the concomitant histological abnormalities and previously reported copper levels. | NA | {
"id": 540,
"name": "ATP7B",
"pos": [
71,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
164,
13
]
} |
Genes of the WNT canonical pathway: activating ligands (WNT11, WNT4, WNT5A), binding inhibitors (DKK3, sFRP1), β-catenin (CTNNB1), β-catenin degradation complex (APC, AXIN1, GSK3β), inhibitor of β-catenin degradation complex (AKT1), sequester of β-catenin (CDH1), pathway effectors (TCF7, MAPK8, NFAT5), pathway mediators (DVL-1, DVL-2, DVL-3, PRICKLE, VANGL1), target genes (MYB, MYC, WISP2, SPRY1, TP53, CCND1); calcium dependent pathway (PLCB1, CAMK2A, PRKCA, CHP); and planar cell polarity pathway (PTK7, DAAM1, RHOA) were evaluated by QPCR, in 19 GH-, 18 ACTH-secreting, 21 non-secreting (NS) pituitary tumors, and 5 normal pituitaries. | NA | {
"id": 815,
"name": "CAMK2A",
"pos": [
448,
6
]
} | {
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
598,
16
]
} |
Interestingly, p65-Sema3C, but not FR-sema3C, rendered A549 lung cancer cells resistant to serum deprivation, suggesting that previously reported protumorigenic activities of sema3C may be due to p65-Sema3C produced by tumor cells. | NA | {
"id": 10512,
"name": "SEMA3C",
"pos": [
200,
6
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
60,
11
]
} |
Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnostic confusion exists. | NA | {
"id": 55,
"name": "ACP3",
"pos": [
113,
3
]
} | {
"id": "C0009676",
"name": "Confusion",
"pos": [
170,
9
]
} |
Linkage and association studies of IL1B and IL1RN gene polymorphisms in preeclampsia. | NA | {
"id": 3557,
"name": "IL1RN",
"pos": [
44,
10
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
72,
12
]
} |
Galectin 1 is a 14-kd laminin-binding lectin involved in important biologic mechanisms of tumors, including neoplastic transformation, cell survival, angiogenesis, cell proliferation, and metastasis. | NA | {
"id": 3956,
"name": "LGALS1",
"pos": [
0,
10
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
108,
31
]
} |
This study investigated the efficacy of EPO in attenuating median nerve chronic constriction injury (CCI)-induced neuropathy. | biomarker | {
"id": 2056,
"name": "EPO",
"pos": [
40,
3
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
114,
10
]
} |
An infant with ambiguous genitalia was found to have a karyotype 45,X/46,X,r(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) using G-banding, C-banding and FISH. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
122,
3
]
} | {
"id": "C0266362",
"name": "Ambiguous Genitalia",
"pos": [
15,
19
]
} |
The risk of secondary cancer, characterised by the lifetime attributable risk (LAR) factor given in the BEIR VII report, was compared among the three irradiation geometries. | genomic_alterations | {
"id": 5792,
"name": "PTPRF",
"pos": [
79,
3
]
} | {
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
12,
16
]
} |
We analyzed genetic polymorphisms in both the NAT1 and NAT2 genes among 140 gastric adenocarcinoma patients, 103 colorectal adenocarcinoma patients and 122 healthy controls from Japan. | NA | {
"id": 1982,
"name": "EIF4G2",
"pos": [
46,
4
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
76,
22
]
} |
LAMP2 cardiomyopathy is a profound disease process characterized by progressive clinical deterioration leading rapidly to cardiac death in young patients (<25 years). | NA | {
"id": 3920,
"name": "LAMP2",
"pos": [
0,
5
]
} | {
"id": "C0376297",
"name": "Cardiac Death",
"pos": [
122,
13
]
} |
Role of the SDF-1/CXCR4 axis in the pathogenesis of lung injury and fibrosis. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
18,
5
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
68,
8
]
} |
Modulatory effects of brain-derived neurotrophic factor Val66Met polymorphism on prefrontal regions in major depressive disorder. | genomic_alterations | {
"id": 627,
"name": "BDNF",
"pos": [
22,
33
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
103,
25
]
} |
Moreover, CHC and FTCD were useful to distinguish early HCC from benign tumors such as regenerative nodule or focal nodular hyperplasia, because the sensitivity and specificity of the markers are 41.2% and 77.8% for CHC, 44.4% and 80.0% for FTCD, which is comparable with those of glypican-3 (33.3% and 100%). | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
56,
3
]
} | {
"id": "C0086692",
"name": "Benign Neoplasm",
"pos": [
65,
13
]
} |
In addition, GSH2 and IL-3 were found to be ectopically expressed in the leukemic cells, suggesting that expression of GSH2 and IL-3 was deregulated by the translocation. | NA | {
"id": 170825,
"name": "GSX2",
"pos": [
119,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
156,
13
]
} |
Differential expression of selected genes was confirmed by qPCR, we confirmed the 5-HT2A alterations and the global down-regulation of members of the metallothionein subfamilies MT 1 and 2 in suicide completers. | NA | {
"id": 3356,
"name": "HTR2A",
"pos": [
82,
6
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
192,
7
]
} |
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