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This study reveals that the G allele of SNP rs10914542 of LCK impairs the TCR/CD3-mediated T-cell activation and increases the risk of T1D.
|
genomic_alterations
|
{
"id": 3932,
"name": "LCK",
"pos": [
58,
3
]
}
|
{
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
135,
3
]
}
|
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": 4288,
"name": "MKI67",
"pos": [
382,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
430,
8
]
}
|
In two of these PHI cases, a rebound to higher levels of plasma viremia only occurred when the M184V mutation in reverse transcriptase could no longer be detected and, in a third case, nondetection of M184V was associated with an inability to isolate virus.
|
NA
|
{
"id": 2821,
"name": "GPI",
"pos": [
16,
3
]
}
|
{
"id": "C0042749",
"name": "Viremia",
"pos": [
64,
7
]
}
|
STUDY DESIGN: We studied 16 SNPs in 12 folate and choline metabolism genes, including BHMT (rs7356530 and rs3733890), BHMT2 (rs625879), CBS (844ins68), CHDH (rs893363 and rs2289205), CHKA (rs7928739), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394), PCYT1A (rs712012 and rs7639752), PEMT (rs4244593 and rs4646406) and TCN (rs1801198) in one hundred and sixty-three infertile women with minimal endometriosis and one hundred and fifty fertile women.
|
NA
|
{
"id": 635,
"name": "BHMT",
"pos": [
86,
4
]
}
|
{
"id": "C0014175",
"name": "Endometriosis",
"pos": [
419,
13
]
}
|
TMD consumption decreased plasma oxidative and inflammatory status and the gene expression related with both inflammation [INF-gamma (INFgamma), Rho GTPase-activating protein15 (ARHGAP15), and interleukin-7 receptor (IL7R)] and oxidative stress [adrenergic beta(2)-receptor (ADRB2) and polymerase (DNA-directed) kappa (POLK)] in peripheral blood mononuclear cells.
|
NA
|
{
"id": 154,
"name": "ADRB2",
"pos": [
275,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
109,
12
]
}
|
The results suggest that GSTP1 is a candidate for susceptibility locus and Ile105 allele may predispose individuals to early-onset urinary TCC.
|
genomic_alterations
|
{
"id": 2950,
"name": "GSTP1",
"pos": [
25,
5
]
}
|
{
"id": "C1861305",
"name": "TARSAL-CARPAL COALITION SYNDROME",
"pos": [
139,
3
]
}
|
One hundred and six patients with suspected AHO, were investigated, of whom 93 showed a laboratory profile of PHP with low or normal calcium and elevated parathormone with normal vitamin D metabolites, and 13 had no endocrine abnormalities.
|
NA
|
{
"id": 5741,
"name": "PTH",
"pos": [
154,
12
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
226,
13
]
}
|
None of the polymorphisms showed any significant impact on CRC risk by genotype alone, but when combined with alcohol consumption the MTHFR 677CC type showed a significantly reduced risk (odds ratio (OR) = 0.45, 95% confidence interval (CI): 0.23-0.86) (P = 0.01).
|
genomic_alterations
|
{
"id": 4524,
"name": "MTHFR",
"pos": [
134,
5
]
}
|
{
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
59,
3
]
}
|
We have previously reported an association between the T allele of the rs6994992 SNP within NRG1 gene and lateral ventricle (LV) enlargement in first-episode schizophrenia patients.
|
NA
|
{
"id": 3084,
"name": "NRG1",
"pos": [
92,
9
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
129,
11
]
}
|
Taken together, our data suggest that the hypoxia-induced expression of GPER may be included among the mechanisms involved in the anti-apoptotic effects elicited by estrogens, particularly in a low oxygen microenvironment.
|
NA
|
{
"id": 2852,
"name": "GPER1",
"pos": [
72,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
42,
7
]
}
|
The 18 black patients had more DNA aneuploid tumors (P = 0.043), a higher mean DNA index (P = 0.017), and a higher mean PSA value (P = 0.043) than the 94 white patients.
|
NA
|
{
"id": 354,
"name": "KLK3",
"pos": [
120,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
35,
9
]
}
|
TIR8/SIGIRR: an IL-1R/TLR family member with regulatory functions in inflammation and T cell polarization.
|
NA
|
{
"id": 59307,
"name": "SIGIRR",
"pos": [
5,
6
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
69,
12
]
}
|
Intracranial glioblastoma multiform (GBM) models were used to test the potential of HOTAIR as a glioma therapy target.
|
biomarker
|
{
"id": 100124700,
"name": "HOTAIR",
"pos": [
84,
6
]
}
|
{
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
13,
12
]
}
|
Gene expression profiling suggested retinophilin/MORN repeat containing 4, a gene promoting axonal degeneration, to contribute to lifespan shortening by neural dPQBP1.
|
NA
|
{
"id": 118812,
"name": "MORN4",
"pos": [
49,
24
]
}
|
{
"id": "C1837496",
"name": "Axonal degeneration",
"pos": [
92,
19
]
}
|
Here, we comprehensively represent the current findings of Gp78, which shows its PQC roles in different physiological functions and diseases; and thereby propose novel opportunities to better understand the unsolved questions for therapeutic interventions linked with different protein misfolding disorders.
|
biomarker
|
{
"id": 267,
"name": "AMFR",
"pos": [
59,
4
]
}
|
{
"id": "C2718001",
"name": "Protein Misfolding Disorders",
"pos": [
278,
28
]
}
|
Resolution of necrolytic migratory erythema with somatostatin analogue in a patient diagnosed with pancreatic glucagonoma.
|
biomarker
|
{
"id": 6750,
"name": "SST",
"pos": [
49,
12
]
}
|
{
"id": "C0017689",
"name": "Glucagonoma",
"pos": [
99,
22
]
}
|
Neovascularization increased during hepatocarcinogenesis, and VK and ACE-I significantly attenuated angiogenesis in the tumor.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
69,
3
]
}
|
{
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
36,
20
]
}
|
Although the observed effects were non-significant and of much smaller magnitude than previously reported in type 1 diabetes, the SORCS1 risk variant showed a direction consistent with increased HbA1c and glucose levels, with an observed effect of 0.11% (P = 0.13) and 0.13 mmol/l (P = 0.43) increase per risk allele for HbA1c and glucose, respectively.
|
NA
|
{
"id": 114815,
"name": "SORCS1",
"pos": [
130,
6
]
}
|
{
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
109,
15
]
}
|
Breast milk sCD14 levels did not significantly modify the effect of the child's CD14 genotype on atopy development (p interaction > or =0.10).
|
NA
|
{
"id": 929,
"name": "CD14",
"pos": [
80,
4
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
97,
5
]
}
|
We examined the interaction between depressive symptoms and functional polymorphisms of serotonin transporter (SLC6A4) and monoamine oxidase A (MAOA) on categories of BMI.
|
genomic_alterations
|
{
"id": 6532,
"name": "SLC6A4",
"pos": [
111,
6
]
}
|
{
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
36,
19
]
}
|
The frequencies of the IL1RN polymorphic allele 2 (P = 0·001) and of the IL2-330 polymorphic allele G (P =0·004) were significantly higher in cITP patients than in blood donors.
|
genomic_alterations
|
{
"id": 3557,
"name": "IL1RN",
"pos": [
23,
5
]
}
|
{
"id": "C0242584",
"name": "Autoimmune thrombocytopenia",
"pos": [
142,
4
]
}
|
The 5-year overall survival rates among patients with adenocarcinoma of lung expressing lower levels of cyclin B2 mRNA were significantly better than the corresponding rates among patients expressing higher levels (p = 0.004).
|
NA
|
{
"id": 9133,
"name": "CCNB2",
"pos": [
104,
9
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
54,
22
]
}
|
Using real-time quantitative reverse transcriptase-polymerase chain reaction ([q]RT-PCR), the authors examined 36 samples (30 melanomas, 4 benign nevi, and 2 reactive lymph nodes) for the expression of 20 melanoma-related genes that function in cell growth and differentiation (epidermal growth factor receptor [EGFR], WNT5A, BRAF, FOS, JUN, MATP, and TMP1), cell proliferation (KI-67, TOP2A, BUB1, BIRC5, and STK6), melanoma progression (CD63, MAGEA3, and GALGT), and melanin synthesis (TYR, MLANA, SILV, PAX3, and MITF).
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
312,
4
]
}
|
{
"id": "C0027960",
"name": "Nevus",
"pos": [
146,
4
]
}
|
However, whether lncRNA TFAP2A-AS1 plays a role in the tumorigenesis of breast cancer (BC) remains undetermined.
|
biomarker
|
{
"id": 100130275,
"name": "TFAP2A-AS1",
"pos": [
24,
10
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
55,
13
]
}
|
On the basis of a regression tree approach using a Cox proportional hazards model for times to clinical AIDS, the combinations of genes associated with the greatest protection, relative to the lack of a protective genotype, consisted of: 1) C-C chemokine receptor 5 (CCR5)-Delta 32 and C-C chemokine receptor 2 (CCR2)-64I (relative hazard = 0.44); 2) interleukin 10 (IL10)-+/+ in combination with CCR5-Delta 32 or CCR2-64I (relative hazard = 0.45); and 3) IL10-+/+ in combination with stromal-derived factor (SDF1)-3 'A and CCR5 promoter P1/approximately P1 (relative hazard = 0.37).
|
NA
|
{
"id": 6387,
"name": "CXCL12",
"pos": [
509,
4
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
18,
10
]
}
|
Homozygous Sepn1(-/-) mice are fertile, and their weight and lifespan are comparable to wild-type (WT) animals.
|
NA
|
{
"id": 57190,
"name": "SELENON",
"pos": [
11,
5
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
50,
6
]
}
|
Here, we assess the impact of germline heterozygosity of a novel, oxygen-independent ubiquitin ligase for HIF-1α: hypoxia-associated factor (HAF; encoded by SART1).
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
106,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
114,
7
]
}
|
We show that inhibition of the MAPK pathway with MAPK/extracellular signal-regulated kinase kinase (MEK) inhibitors or a specific inhibitor of BRAF(V600E) in melanoma cell lines and tumor digests results in increased levels of MDAs, which is associated with improved recognition by antigen-specific T lymphocytes.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
143,
11
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
182,
5
]
}
|
Viability of livers was evaluated upon reperfusion in vitro according to previously validated techniques for 120 min at 37 degrees C. Oxygenation during preservation (MP-HTK, MP-Belzer or VSOP) concordantly improved functional recovery (bile flow, ammonia clearance), reduced parenchymal enzyme leakage and histological signs of necrosis and significantly attenuated mitochondrial induction of apoptosis (cleavage of caspase 9) compared to CS.
|
NA
|
{
"id": 2050,
"name": "EPHB4",
"pos": [
170,
3
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
329,
8
]
}
|
Gene and protein analysis reveals that p53 pathway is functionally inactivated in cytogenetically normal Acute Myeloid Leukemia and Acute Promyelocytic Leukemia.
|
biomarker
|
{
"id": 7157,
"name": "TP53",
"pos": [
39,
3
]
}
|
{
"id": "C3839868",
"name": "Cytogenetically normal acute myeloid leukemia",
"pos": [
82,
45
]
}
|
The PEGylated NMU-8 showed potent and robust anorectic activity and anti-obesity effect in diet-induced obesity (DIO) mice by once-daily subcutaneous (s.c.) administration.
|
biomarker
|
{
"id": 10874,
"name": "NMU",
"pos": [
14,
3
]
}
|
{
"id": "C0003123",
"name": "Anorexia",
"pos": [
45,
9
]
}
|
Polymorphisms affecting p53 degradation therefore represent one of the rare examples of modifier genetic factors identified to date in mendelian predispositions to cancer.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
24,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
164,
6
]
}
|
Together, these data suggest that GATA-6 acts as a transcriptional repressor of CAV1 gene expression in PBOO-induced BSM hypertrophy in men and mice.
|
NA
|
{
"id": 55278,
"name": "QRSL1",
"pos": [
34,
4
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
121,
11
]
}
|
The EEN (extra eleven nineteen) gene, located on chromosome 19p13, was cloned as a fusion with MLL from a patient with acute myeloid leukemia (AML) with translocation t(11;19)(q23;p13).
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
180,
3
]
}
|
{
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
119,
22
]
}
|
Importantly, co-treatment with chaetocin and TSA produced potent antileukemic effects in leukemia cells derived from patients.
|
NA
|
{
"id": 7001,
"name": "PRDX2",
"pos": [
45,
3
]
}
|
{
"id": "C0023418",
"name": "leukemia",
"pos": [
89,
8
]
}
|
We reported for the first time a case of 13-year-old boy with NS with loose anagen hair (NSLAH) resulting from mutation in SHOC2 who developed an autoimmune disorder that fulfilled four American College of Rheumatology (ACR) criteria for the classification of SLE (polyarthritis, pericarditis, antinuclear antibodies, and anti-DNA antibodies).
|
NA
|
{
"id": 8036,
"name": "SHOC2",
"pos": [
123,
5
]
}
|
{
"id": "C0031046",
"name": "Pericarditis",
"pos": [
280,
12
]
}
|
Utilization of cell-transferred cytologic smears in detection of EGFR and KRAS mutation on adenocarcinoma of lung.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
65,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
91,
22
]
}
|
The p21 core protein was predominant from the clone isolated from one of the fulminant hepatitis patient (p21 core protein production was 65.98%), while p23 was abundant with clones from five chronic hepatitis patients (p21 core protein production was 7.11+/-1.62%) and clone from another fulminant hepatitis patient (p21 core protein production was 13.36%).
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
318,
3
]
}
|
{
"id": "C0019189",
"name": "Hepatitis, Chronic",
"pos": [
192,
17
]
}
|
For this study, selected breast cancer patients (n=66) were tested for HER-2 gene amplification by FISH.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
99,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
25,
13
]
}
|
These results demonstrate that anti-FcεR1 therapy delays diabetes onset in NOD mice and suggest that chronic basophil and mast cell activation may represent a new avenue of therapy for Th1-associated autoimmune diseases.
|
NA
|
{
"id": 51497,
"name": "NELFCD",
"pos": [
185,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
57,
8
]
}
|
Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysfunction (C1-INH-HAE type II) is a rare disease characterized by recurrent episodes of edema with an estimated frequency of 1:50,000 in the global population without racial or gender differences.
|
NA
|
{
"id": 710,
"name": "SERPING1",
"pos": [
89,
6
]
}
|
{
"id": "C0013604",
"name": "Edema",
"pos": [
166,
5
]
}
|
Twenty patients with sporadic ALS, 6 patients with homozygous D90A SOD1 ALS, and 21 healthy control subjects.
|
NA
|
{
"id": 6647,
"name": "SOD1",
"pos": [
67,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
21,
8
]
}
|
Aberrant hypermethylation of the NNAT locus suggests that the dysregulation of genes at 20q11.2-q12 in leukemia may be the result of epigenetic as well as genetic events.
|
genomic_alterations
|
{
"id": 4826,
"name": "NNAT",
"pos": [
33,
4
]
}
|
{
"id": "C1332977",
"name": "Childhood Leukemia",
"pos": [
103,
8
]
}
|
Induction of leukemia-specific CD8+ cytotoxic T cells with autologous myeloid leukemic cells maturated with a fiber-modified adenovirus encoding TNF-alpha.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
31,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
125,
10
]
}
|
Recently, several studies have revealed a recurrent t(7;17) translocation resulting in a JAZF1-JJAZ1 gene fusion in over 60% of EST and its variants, including 2 out of 4 endometrial stromal tumors with sex cord-like elements (ESTSCLE).
|
NA
|
{
"id": 1326,
"name": "MAP3K8",
"pos": [
128,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
60,
13
]
}
|
The objective of this study was to examine the association between the genetic polymorphism of glutathione S-transferase (GST) M1, T1 and N-acetyltransferase 2 (NAT2) genes and urothelial cancer risk in relation to smoking status.
|
genomic_alterations
|
{
"id": 133482,
"name": "SLCO6A1",
"pos": [
122,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
188,
6
]
}
|
Free fatty acid receptor 2, a candidate target for type 1 diabetes, induces cell apoptosis through ERK signaling.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
99,
3
]
}
|
{
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
51,
15
]
}
|
We investigated the in situ levels and modulation of PAR-2 in human normal and osteoarthritis (OA) cartilage/chondrocytes.
|
NA
|
{
"id": 10899,
"name": "JTB",
"pos": [
53,
3
]
}
|
{
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
79,
14
]
}
|
STAG2 loss of expression was reported in a range of tumors, and STAG2 loss was found to cause chromosomal instability and aneuploidy in cancer cells.
|
NA
|
{
"id": 10735,
"name": "STAG2",
"pos": [
64,
5
]
}
|
{
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
94,
23
]
}
|
These results indicate that Pax2 is involved in renal tumor angiogenesis and its expression may antagonize that of the PTEN tumor suppressor gene, affecting the Akt-survival pathway and promoting angiogenesis.
|
NA
|
{
"id": 5076,
"name": "PAX2",
"pos": [
28,
4
]
}
|
{
"id": "C1519670",
"name": "Tumor Angiogenesis",
"pos": [
54,
18
]
}
|
Our study thus indicates that apoE genotype affects the development of cancers among AIDS patients.
|
genomic_alterations
|
{
"id": 348,
"name": "APOE",
"pos": [
30,
4
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
71,
7
]
}
|
These results demonstrate that Nrf2 regulates iron efflux from macrophages through Fpn1 gene transcription and suggest that Nrf2 may control iron metabolism during inflammation.
|
NA
|
{
"id": 30061,
"name": "SLC40A1",
"pos": [
83,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
164,
12
]
}
|
The joint mother-newborn PGM1 genotype distribution is significantly associated with a positive history of previous spontaneous miscarriage, suggesting that the presence of the PGM1*2 allele in the father predisposes to spontaneous abortion.
|
NA
|
{
"id": 5236,
"name": "PGM1",
"pos": [
177,
4
]
}
|
{
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
220,
20
]
}
|
No Pax3:Fkhr or Pax7:Fkhr translocation mRNA products were evident in any tumor.
|
NA
|
{
"id": 5077,
"name": "PAX3",
"pos": [
3,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
26,
13
]
}
|
The results demonstrated that genetic variation in KCNJ11, BDNF, PFKP, PTER and SEC16B were associated with SGA and support the concept that genetic factors associated with obesity and/or type 2 diabetes are more prevalent in those born SGA compared to those born AGA.
|
NA
|
{
"id": 5214,
"name": "PFKP",
"pos": [
65,
4
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
188,
15
]
}
|
Our findings indicated that FHIT utilizes a pathway independent of p53 and is involved in abnormal cell proliferation via the breakdown of G0-G1 arrest in the larynx and apoptosis during multistep carcinogenesis of the larynx.
|
NA
|
{
"id": 2272,
"name": "FHIT",
"pos": [
28,
4
]
}
|
{
"id": "C0023051",
"name": "Laryngeal Diseases",
"pos": [
219,
6
]
}
|
We examined the effects of BDNF single nucleotide polymorphisms (SNPs) in response to the antidepressants paroxetine and mirtazapine in a sample of 246 geriatric patients with major depression, treated in a double-blind, randomized, 8-week clinical trial.
|
genomic_alterations
|
{
"id": 627,
"name": "BDNF",
"pos": [
27,
4
]
}
|
{
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
176,
16
]
}
|
However, in five (17.2%) cases (two extranodal marginal zone lymphomas of MALT type, LGM; one diffuse large-cell lymphoma with a MALT component, DLCLM; and two diffuse large-cell lymphomas without a MALT component, DLCL), three to four cyclin D3 signals were detected by FISH.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
271,
4
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
61,
9
]
}
|
Based on MSI, and CIN, 3 classes were defined: (i) High microsatellite instability MSI-H tumors: young age, high carcinoembryonic antigen (CEA) level, right colon, poorly differentiated, mucin production, high BRAF mutation, lower allelic loss and relatively good prognosis; (ii) Microsatellite stability (MSS) diploid tumors: right colon, poorly differentiated, less infiltrative tumor, mucin production, lower allelic loss and low p53, BRAF mutation; (iii) MSS aneuploid tumors: more infiltrative invasion, greater allelic loss and high p53 mutation.
|
NA
|
{
"id": 1048,
"name": "CEACAM5",
"pos": [
139,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
463,
9
]
}
|
Metabolic reprogramming of stromal fibroblasts through p62-mTORC1 signaling promotes inflammation and tumorigenesis.
|
NA
|
{
"id": 51164,
"name": "DCTN4",
"pos": [
55,
3
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
85,
12
]
}
|
Conditioned medium from NOG8 cells was positive for prolactin bioactivity by the Nb2 rat lymphoma cell proliferation assay, and Western analysis revealed the presence of immunoreactive proteins at M(r) 14,000 and 60,000.
|
NA
|
{
"id": 53942,
"name": "CNTN5",
"pos": [
81,
3
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
89,
8
]
}
|
We suggest that targeting the PI3K/AKT pathway may be a promising therapeutic strategy for PTCL.
|
biomarker
|
{
"id": 5294,
"name": "PIK3CG",
"pos": [
30,
4
]
}
|
{
"id": "C0079774",
"name": "Peripheral T-Cell Lymphoma",
"pos": [
91,
4
]
}
|
Amino acid starvation resulted in the expected up-regulation of System A (ATA2) gene, but not for B0 and ASC.
|
NA
|
{
"id": 54407,
"name": "SLC38A2",
"pos": [
74,
4
]
}
|
{
"id": "C0038187",
"name": "Starvation",
"pos": [
11,
10
]
}
|
We found associations of rs12970134 near MC4R with waist circumference (P = 1.7 x 10(-9)) and, independently, with insulin resistance.
|
NA
|
{
"id": 4160,
"name": "MC4R",
"pos": [
41,
4
]
}
|
{
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
51,
19
]
}
|
This study examined p53 immunoreactivity, mutations of exons 5-8 of the p53 gene, codon 12 of the Ki-ras gene by PCR-SSCP analyses, and microsatellite instability in 19 serrated adenomas, ten adenocarcinomas in/with serrated adenomas, 23 hyperplastic nodules, four hyperplastic polyps and 29 tubular adenomas of the colorectum.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
72,
8
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
136,
26
]
}
|
The level of netrin-1, netrin-1 receptors, ie, DCC, UNC5H1, UNC5H2, UNC5H3, and the proinflammatory markers cyclooxygenase-2 and inhibitor of nuclear factor-kappaB (IkappaB) alpha were analyzed in a panel of 59 primary sporadic colorectal carcinomas.
|
NA
|
{
"id": 1630,
"name": "DCC",
"pos": [
47,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
219,
8
]
}
|
This result, together with previous data on body weight gain, supports the hypothesis of a role of UCP and brown adipose tissue in the body weight regulation in humans.
|
NA
|
{
"id": 7350,
"name": "UCP1",
"pos": [
99,
3
]
}
|
{
"id": "C0043094",
"name": "Weight Gain",
"pos": [
44,
16
]
}
|
The ACE D/D genotype is protective against the development of idiopathic deep vein thrombosis and pulmonary embolism.
|
genomic_alterations
|
{
"id": 1636,
"name": "ACE",
"pos": [
4,
3
]
}
|
{
"id": "C0149871",
"name": "Deep Vein Thrombosis",
"pos": [
73,
20
]
}
|
Knockdown of ACSS2 increased the invasion and migration ability of HCC cells and promoted EMT without increasing the total protein level of HIF-2α, even in hypoxic conditions.
|
biomarker
|
{
"id": 55902,
"name": "ACSS2",
"pos": [
13,
5
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
33,
8
]
}
|
Down-Regulation of miR-200c and Up-Regulation of miR-30c Target both Stemness and Metastasis Genes in Breast Cancer.
|
biomarker
|
{
"id": 407031,
"name": "MIR30C1",
"pos": [
49,
7
]
}
|
{
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
102,
13
]
}
|
Genetic polymorphism in exon 2 of cathepsin D is not associated with vascular dementia.
|
NA
|
{
"id": 1509,
"name": "CTSD",
"pos": [
34,
11
]
}
|
{
"id": "C0011269",
"name": "Dementia, Vascular",
"pos": [
69,
17
]
}
|
Subsequently, we found that ataxia-telangiectasia mutated (ATM) plays an important role in activating these proapoptotic proteins (NAG-1 and p53) and cell cycle inhibitor (p21).
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
172,
3
]
}
|
{
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
35,
14
]
}
|
Renal dysmorphogenesis was observed in offspring of Hoxb7-GFP-Tg dams with severe maternal diabetes; the affected male offspring displayed higher renal ROS generation and developed hypertension and renal hyperfiltration as well as renal injury with heightened TGF-β1 expression in adulthood.
|
NA
|
{
"id": 3217,
"name": "HOXB7",
"pos": [
52,
5
]
}
|
{
"id": "C0232910",
"name": "Teratogenesis",
"pos": [
6,
16
]
}
|
We investigated the contributions of NR2A- and NR2B-containing NMDA receptors to ischemic cell death and ischemic tolerance in a rat model of transient global ischemia.
|
NA
|
{
"id": 2904,
"name": "GRIN2B",
"pos": [
47,
4
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
159,
8
]
}
|
By monitoring fluorescent recombinant protein and by gel mobility shift assays, PS1 was shown to accelerate the translocation of QM from the cytoplasm to the nucleus and to thereby suppress the binding of c-Jun homodimer to 12-O-tetradecanoylphorbol-13- acetate (TPA)-responsive element (TRE).
|
NA
|
{
"id": 3725,
"name": "JUN",
"pos": [
205,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
112,
13
]
}
|
In addition, anxiety was evaluated in another group of P2X7-/- mice using the elevated plus maze (EPM) and light dark emergence (LDE) tests.
|
NA
|
{
"id": 7957,
"name": "EPM2A",
"pos": [
129,
3
]
}
|
{
"id": "C0003467",
"name": "Anxiety",
"pos": [
13,
7
]
}
|
These observations suggest that the disruption of ETV6 and/or ACS2 may lead to the pathogenesis of hematologic malignancies with t(5;12)(q31;p13).
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
141,
3
]
}
|
{
"id": "C0376545",
"name": "Hematologic Neoplasms",
"pos": [
99,
24
]
}
|
Since ENA-78 has been implicated in the pathogenesis of RA, we examined the expression of an ENA-78-like protein during the development of rat adjuvant-induced arthritis (AIA).
|
NA
|
{
"id": 6374,
"name": "CXCL5",
"pos": [
93,
6
]
}
|
{
"id": "C0003864",
"name": "Arthritis",
"pos": [
160,
9
]
}
|
Furthermore, knockdown of Cep164 or overexpression of dominant negative mutant allele CEP164 Q525X induces epithelial-to-mesenchymal transition, and concomitant upregulation of genes associated with fibrosis.
|
NA
|
{
"id": 22897,
"name": "CEP164",
"pos": [
86,
6
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
199,
8
]
}
|
In this study, to determine what role PKCα/β plays in PLCε-mediated bladder cancer cell invasion and migration, we silenced PLCε gene by adenovirus-shPLCε in T24 and BIU-87 cells and then revealed that it significantly inhibited cell migration and invasion.
|
biomarker
|
{
"id": 5578,
"name": "PRKCA",
"pos": [
38,
4
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
248,
8
]
}
|
This finding suggests that overgrowth observed in our patients might be causally related to a dosage effect of the IGF1R gene, in contrast to severe growth retardation observed in patients with terminal deletion of 15q.
|
NA
|
{
"id": 3480,
"name": "IGF1R",
"pos": [
115,
10
]
}
|
{
"id": "C1849265",
"name": "Overgrowth",
"pos": [
27,
10
]
}
|
Using qRT-PCR, we revealed an up-regulation of APRIL mRNA expression in glottic carcinoma as compared to glottic polypus and corresponding adjacent non-neoplastic tissues, but no significant difference with T stages, histopathological differentiation grade or lymph node metastasis in glottic carcinoma.
|
NA
|
{
"id": 10541,
"name": "ANP32B",
"pos": [
47,
5
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
148,
14
]
}
|
The relationship between hypoxia and histone deacetylase (HDAC) inhibitors has been previously established.
|
NA
|
{
"id": 9734,
"name": "HDAC9",
"pos": [
58,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
25,
7
]
}
|
Designated as "PCR+" tumors, they were examined by reverse transcription (RT)-PCR, together with four of six previously studied tumors derived from MCH910.7, which carried a del(3)(pter-p21.1), for the expression of 14 human genes: 5 genes within CER1 (LIMD1, CCR1, CCR2, CCR3, CCR5), 5 genes located within regions that were homozygously deleted in a variety of carcinomas (ITGA4L, LUCA1, PTPRG, FHIT, DUTT1), and 4 other genes in chr3p (VHL, MLH1, TGM4, UBE1L).
|
NA
|
{
"id": 7047,
"name": "TGM4",
"pos": [
450,
4
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
363,
10
]
}
|
Mechanical injury in the absence of hypercholesterolemia resulted in intimal thickening in which Cx43 expression in the intimal SMC was equivalent to that in the subjacent medial SMC, both being approximately equivalent to normal uninjured rabbit medial SMC expression.
|
NA
|
{
"id": 54808,
"name": "DYM",
"pos": [
254,
3
]
}
|
{
"id": "C0020443",
"name": "Hypercholesterolemia",
"pos": [
36,
20
]
}
|
In this study, we examined whether common polymorphisms in IGF2 (6815_6819delAGGGC, 1156T>C and 820G>A (ApaI)) and a microsatellite marker in the close vicinity of IGF2 were linked to or associated with birth weight and adult metabolic risk factors.
|
NA
|
{
"id": 3481,
"name": "IGF2",
"pos": [
164,
4
]
}
|
{
"id": "C0005612",
"name": "Birth Weight",
"pos": [
203,
12
]
}
|
We found that among the epidermal growth factor receptor (EGFR) family of growth factors, HB-EGF gene expression in cancerous tissues and HB-EGF protein levels in patients' ascites fluid were significantly elevated.
|
NA
|
{
"id": 1950,
"name": "EGF",
"pos": [
93,
8
]
}
|
{
"id": "C0003962",
"name": "Ascites",
"pos": [
173,
7
]
}
|
All the muscle biopsies of patients with other childhood onset muscular dystrophies were positive for dystrophin and negative for utrophin.
|
NA
|
{
"id": 7402,
"name": "UTRN",
"pos": [
130,
8
]
}
|
{
"id": "C1837352",
"name": "Childhood onset",
"pos": [
47,
15
]
}
|
A sensory neuron-expressed IL-31 receptor mediates T helper cell-dependent itch: Involvement of TRPV1 and TRPA1.
|
NA
|
{
"id": 8989,
"name": "TRPA1",
"pos": [
106,
5
]
}
|
{
"id": "C0033774",
"name": "Pruritus",
"pos": [
75,
4
]
}
|
Most patients were deemed cured (163; 73.8%), yet PXR 63396TT carriers had a higher probability of death (P = 0.007) and of worsening peripheral neuropathy (P = 0.018).
|
biomarker
|
{
"id": 8856,
"name": "NR1I2",
"pos": [
50,
3
]
}
|
{
"id": "C0031117",
"name": "Peripheral Neuropathy",
"pos": [
134,
21
]
}
|
The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope.
|
NA
|
{
"id": 6532,
"name": "SLC6A4",
"pos": [
70,
21
]
}
|
{
"id": "C0042420",
"name": "Vasovagal syncope",
"pos": [
226,
17
]
}
|
LRRK2 Gly2385Arg variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China.
|
genomic_alterations
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
0,
5
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
45,
19
]
}
|
Altered expression of estrogen receptor alpha and beta in advanced gastric adenocarcinoma: correlation with prothymosin alpha and clinicopathological parameters.
|
NA
|
{
"id": 2099,
"name": "ESR1",
"pos": [
22,
23
]
}
|
{
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
67,
22
]
}
|
In pooled analysis, p27 gene rs34330 polymorphism significantly increased the cancer susceptibility.
|
genomic_alterations
|
{
"id": 5715,
"name": "PSMD9",
"pos": [
20,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
78,
6
]
}
|
The incidence of leukemia in these mice varied from 5% to 50%, dependent on the Cre-driving promoter (Cd19, Mb1, or Mx1) used to induce E2A-PBX1 expression.
|
NA
|
{
"id": 4599,
"name": "MX1",
"pos": [
116,
3
]
}
|
{
"id": "C0023418",
"name": "leukemia",
"pos": [
17,
8
]
}
|
A total of 716 male subjects from the Metabolic Intervention Cohort Kiel (MICK) and 103 male subjects with histologically proved nonalcoholic fatty liver disease (NAFLD) were genotyped for this FATP5 polymorphism rs56225452 and phenotyped for features of the metabolic syndrome.
|
genomic_alterations
|
{
"id": 10998,
"name": "SLC27A5",
"pos": [
194,
5
]
}
|
{
"id": "C0524620",
"name": "Metabolic Syndrome X",
"pos": [
259,
18
]
}
|
Immunoglobulin kappa gene usage and somatic mutation patterns were studied in a series of 47 IGKV-J rearrangements amplified in 42 follicular lymphoma (FL) cases.
|
NA
|
{
"id": 50802,
"name": "IGK",
"pos": [
0,
25
]
}
|
{
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
36,
16
]
}
|
To identify etiology-dependent DNA copy number aberrations and genes relevant to hepatocarcinogenesis, we performed array-based comparative genomic hybridization of 63 HCCs of well-defined etiology and 4 HCC cell lines followed by gene expression profiling and functional analyses of candidate genes.
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
204,
3
]
}
|
{
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
81,
20
]
}
|
High prevalence of penicillin-binding protein (PBP) gene mutated (PGM) strains of H. influenzae should be taken into account when treating otitis media in children.
|
genomic_alterations
|
{
"id": 5473,
"name": "PPBP",
"pos": [
47,
3
]
}
|
{
"id": "C3825879",
"name": "Otitis media in children",
"pos": [
139,
24
]
}
|
Our data suggest that clinical utility of PARP inhibitors might be extended beyond patients with BRCA mutations to a larger group of patients with ARID1A-mutant tumors, which may exhibit therapeutic vulnerability to PARP inhibitors.
|
genomic_alterations
|
{
"id": 142,
"name": "PARP1",
"pos": [
42,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
161,
6
]
}
|
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