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These results indicate that polymorphisms of APOA5, APOC3, APOA1, and LPL are determinants of hypertriglyceridemia and that those of APOA5 and APOE are determinants of low HDL-cholesterol and high LDL-cholesterol, respectively, in Japanese individuals. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
70,
3
]
} | {
"id": "C0020557",
"name": "Hypertriglyceridemia",
"pos": [
94,
20
]
} |
Using this assay, the level of HSP27 was determined in non-tumoral cells MCF-10A, parental drug-sensitive cancer cells MCF-7/WT and drug-resistant cancer cells MCF-7/ADR. | NA | {
"id": 3315,
"name": "HSPB1",
"pos": [
31,
5
]
} | {
"id": "C0677936",
"name": "Refractory cancer",
"pos": [
137,
16
]
} |
Thus we hypothesized that SIRT1 attenuates nasal polyposis by inhibiting HIF-1-induced EMT. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
87,
3
]
} | {
"id": "C0027430",
"name": "Nasal Polyps",
"pos": [
43,
15
]
} |
Although it remains possible that MMR is abnormal in tumours from HNPCC families before APC mutations occur, it is likely that in sporadic colon tumours, APC mutations, rather than genomic instability, are the initiating events in tumorigenesis. | genomic_alterations | {
"id": 4436,
"name": "MSH2",
"pos": [
66,
5
]
} | {
"id": "C0032580",
"name": "Adenomatous Polyposis Coli",
"pos": [
88,
3
]
} |
First, whole exome sequencing was conducted to identify disruptive de novo mutations in 14 complete parent-offspring trios with sporadic schizophrenia from Jerusalem, which identified 5 sporadic cases with de novo gene mutations in 5 different genes (PTPRG, TGM5, SLC39A13, BTK, CDKN3). | NA | {
"id": 1033,
"name": "CDKN3",
"pos": [
279,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
137,
13
]
} |
Transforming growth factor beta (TGF-beta) is frequently involved in gastrointestinal carcinogenesis although its contribution to oesophageal adenocarcinoma (AC) and its precursor Barrett's oesophageal epithelium (BE) metaplasia are unclear. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
33,
8
]
} | {
"id": "C0025568",
"name": "Metaplasia",
"pos": [
218,
10
]
} |
At the same time, we intend to highlight the major GPCRs that have been targeted by various pharmaceutical companies against diabetes mellitus. | biomarker | {
"id": 134391,
"name": "GPR151",
"pos": [
51,
4
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
125,
17
]
} |
Since HS can regulate SMC proliferation and influence plaque stability, the findings suggest that HPSE degradation of HS take part in the regulation of SMC function in human atherosclerosis. | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
98,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
54,
6
]
} |
In a family-based study of 76 pedigrees from Dhaka, Bangladesh, we evaluated the association between cholera and five candidate genes-the cystic fibrosis transmembrane receptor; lactoferrin; long palate, lung and nasal epithelium clone 1 (LPLUNC1); estrogen-related receptor alpha and calcium-activated chloride channel 1. | NA | {
"id": 1179,
"name": "CLCA1",
"pos": [
285,
36
]
} | {
"id": "C0008354",
"name": "Cholera",
"pos": [
101,
7
]
} |
However, patients with dengue infection and significant bleeding manifestations, apart from petechiae and ecchymosis, tended to have a higher frequency of the TNF-α -308A allele (11.8%, 9/76) than those without significant bleeding manifestations (5/126, 4.0%) (P = 0.056). | NA | {
"id": 7124,
"name": "TNF",
"pos": [
159,
5
]
} | {
"id": "C0013491",
"name": "Ecchymosis",
"pos": [
106,
10
]
} |
DRD3 rs62801814;2904;3356">rs6280</span>" genes_norm="1814">p.Ser9Gly</span> (rs6280) CT genotype is associated with ICD in Indian PD patients and this association is novel. | genomic_alterations | {
"id": 1814,
"name": "DRD3",
"pos": [
0,
4
]
} | {
"id": "C0021122",
"name": "Disruptive, Impulse Control, and Conduct Disorders",
"pos": [
117,
3
]
} |
We found that hypoxia increased STK15 expression and STK15 promoter activity in HepG2 tumor cells. | NA | {
"id": 6790,
"name": "AURKA",
"pos": [
53,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
14,
7
]
} |
In stratified analyses, the association of PPP2R1A:rs10412613 and lung cancer risk appeared stronger among population of younger age at diagnosis and never smokers. | genomic_alterations | {
"id": 5518,
"name": "PPP2R1A",
"pos": [
43,
7
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
66,
11
]
} |
A small-molecule macrophage migration inhibitory factor antagonist protects against glomerulonephritis in lupus-prone NZB/NZW F1 and MRL/lpr mice. | NA | {
"id": 4282,
"name": "MIF",
"pos": [
17,
38
]
} | {
"id": "C0024131",
"name": "Lupus Vulgaris",
"pos": [
106,
5
]
} |
Our results showed that CAPE given during promotion in hepatocarcinogenesis protects against induction of GGT-positive AHF, GST-P protein, GGT mRNA expression and translocation of p65. | NA | {
"id": 64689,
"name": "GORASP1",
"pos": [
180,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
163,
13
]
} |
In conclusion, ablation of the PHD3 gene resulted in increased angiogenesis and cardiac function after infarction thereby offering a potential target for pharmacological management of ischemic myocardial disease. | NA | {
"id": 112399,
"name": "EGLN3",
"pos": [
31,
4
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
103,
10
]
} |
Using this approach, we analyzed skin lesions of lymphomatoid papulosis and either CD30+ large-cell lymphoma or early patch/plaque mycosis fungoides that developed in three patients. | NA | {
"id": 943,
"name": "TNFRSF8",
"pos": [
83,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
124,
6
]
} |
New findings on the roles of complement and the CXCR4/SDF-1 pathway in HUS pathogenesis are summarized and novel therapeutic strategies are highlighted. | biomarker | {
"id": 7852,
"name": "CXCR4",
"pos": [
48,
5
]
} | {
"id": "C0019061",
"name": "Hemolytic-Uremic Syndrome",
"pos": [
71,
3
]
} |
To verify whether the expression of abnormal NFKB-2 proteins can lead to malignant transformations in mammalian cells, we transfected human lymphoblastoid cell lines and murine fibroblasts (Balb/3T3) with expression vectors carrying the cDNAs coding for normal NFKB-2p52, Lyt-10C alpha or LB40 proteins, which are representative of the abnormal types found in lymphoma cases. | NA | {
"id": 64333,
"name": "ARHGAP9",
"pos": [
276,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
360,
8
]
} |
High mobility group box 1 (HMGB1) is associated with tumor progression and a poor prognosis; microtubule-associated protein 1 light chain 3 (LC3) plays a critical role in autophagy. | NA | {
"id": 84557,
"name": "MAP1LC3A",
"pos": [
141,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
53,
17
]
} |
To determine whether killer cell immunologlobulin-like receptor (KIR) genotypes are associated with vasculitis, vascular arterial events or anticardiolipin (aCL) antibodies in patients with lupus. | NA | {
"id": 2669,
"name": "GEM",
"pos": [
65,
3
]
} | {
"id": "C0042384",
"name": "Vasculitis",
"pos": [
100,
10
]
} |
From January 1990 to January 2009, 24 patients (22 achondroplasia, 2 hypochondroplasia; 13 boys, 11 girls; age 8 days to 15 years, median age 3.0 years) were examined, including a semi-structured interview, a clinical examination, and a polysomnographic sleep recording (65 polysomnographic sleep recordings (PSG) in 24 patients). | NA | {
"id": 5673,
"name": "PSG5",
"pos": [
309,
3
]
} | {
"id": "C0001080",
"name": "Achondroplasia",
"pos": [
51,
14
]
} |
Point mutations in ras protooncogenes and in the p53 tumor suppressor gene are common in many forms of human cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
49,
20
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
109,
6
]
} |
In the present study, we used short hairpin RNA (shRNA) to silence NDRG1 in the OC cell line OVCAR3 and assessed the effect of its knockdown on cell morphology, proliferation, colony formation, migration and invasion. | biomarker | {
"id": 10397,
"name": "NDRG1",
"pos": [
67,
5
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
80,
2
]
} |
Using transgenic mice that overproduce human TRX-1 (TRX-Tg mice), we examined whether oxidative stress is involved in fetal dysmorphogenesis in diabetic pregnancies. | NA | {
"id": 7295,
"name": "TXN",
"pos": [
52,
3
]
} | {
"id": "C0232910",
"name": "Teratogenesis",
"pos": [
124,
16
]
} |
JAZF1, FTO, CDKAL1, and HHEX/IDE are associated with diabetic nephropathy. | NA | {
"id": 221895,
"name": "JAZF1",
"pos": [
0,
5
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
53,
20
]
} |
National practice trends for the surgical management of lung cancer in the CMS population: an atlas of care. | genomic_alterations | {
"id": 23607,
"name": "CD2AP",
"pos": [
75,
3
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
56,
11
]
} |
Chromatin immunoprecipitation experiments demonstrated that binding of JMJD2B on the cyclin A1 (CCNA1) promoter resulted in CCNA1 upregulation under hypoxic conditions. | NA | {
"id": 23030,
"name": "KDM4B",
"pos": [
71,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
149,
7
]
} |
It has been demonstrated that SCs of the breast consistently harbour the t(12;15)ETV6-NTRK3 translocation. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
81,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
92,
13
]
} |
Northern Thailand is one of the highest α-thalassemia incidence areas where 30-40% of inhabitants have been reported to carry aberrant α-globin genes. | genomic_alterations | {
"id": 3039,
"name": "HBA1",
"pos": [
135,
8
]
} | {
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
40,
13
]
} |
As 48% of the t(4;11) infant ALL cases had no detectable antigen receptor gene rearrangements that could be used for minimal residual disease (MRD) analysis, we established an expression-independent, leukaemia-specific polymerase chain reaction (PCR) using the genomic sequence of the MLL-AF4 fusion genes. | NA | {
"id": 4299,
"name": "AFF1",
"pos": [
289,
3
]
} | {
"id": "C0242596",
"name": "Neoplasm, Residual",
"pos": [
117,
24
]
} |
Together, these results implicate MIF in the pathogenesis of esophageal inflammation and suggest that targeting MIF might represent a novel therapy for EoE. | NA | {
"id": 268,
"name": "AMH",
"pos": [
112,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
72,
12
]
} |
The insulin sensitivity indices HOMA-IR (homeostasis model assessment of insulin resistance), ISI-COMP (whole body insulin sensitivity index), ISI-HOMA (hepatic insulin sensitivity), and DELTA (early secretory response to an oral glucose load) were calculated. | NA | {
"id": 5694,
"name": "PSMB6",
"pos": [
187,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
73,
18
]
} |
The frequency distribution of these polymorphisms was compared in an EH population [diastolic blood pressure (DBP) > or = 95 mm Hg; n = 100] and a matched normotensive (NT) group (BP < or = 140/85 mm Hg). | NA | {
"id": 1628,
"name": "DBP",
"pos": [
110,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
84,
24
]
} |
Decreased GH, decreased IGF-I and increased MMP-9 activities may be possible diagnostic markers in RHD for developing heart failure. | biomarker | {
"id": 4318,
"name": "MMP9",
"pos": [
44,
5
]
} | {
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
118,
13
]
} |
Oral factor Xa inhibitors for the treatment of left ventricular thrombus: a case series. | biomarker | {
"id": 2159,
"name": "F10",
"pos": [
5,
9
]
} | {
"id": "C0587044",
"name": "Left ventricular thrombus",
"pos": [
47,
25
]
} |
Peripheral blood samples from patients with monoclonal TCR-alphabeta(+)/CD4(+) T-LGL lymphocytosis and other T-chronic lymphoproliferative disorders were evaluated for the specific functional response against hCMV and hEBV whole lysates as well as the "MQLIPDDYSNTHSTRYVTVK" hCMV peptide, which is specifically loaded in HLA-DRB1*0701 molecules. | NA | {
"id": 920,
"name": "CD4",
"pos": [
72,
3
]
} | {
"id": "C0024314",
"name": "Lymphoproliferative Disorders",
"pos": [
119,
29
]
} |
The purpose of this study was to determine the effects of adenovirus-mediated MMAC/PTEN expression on the growth and survival of human esophageal cancer cells in vitro and in vivo. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
83,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
58,
10
]
} |
Our studies demonstrate that as a tumour suppressor, miR-3188 directly targets mTOR to stimulate its own expression and participates in FOXO1-mediated repression of cell growth, tumorigenesis and NPC chemotherapy resistance. | NA | {
"id": 2308,
"name": "FOXO1",
"pos": [
136,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
178,
13
]
} |
The frequencies of seven NAT2 point mutations, namely G191A, C282T, T341C, C481T, G590A, A803G, and G857A, and genotypes were determined by PCR/RFLP in a total of 70 patients with allergic contact dermatitis to PPD and 100 control subjects with no history of allergy, atopy, lung disease, diabetes mellitus and cancer. | NA | {
"id": 10,
"name": "NAT2",
"pos": [
25,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
268,
5
]
} |
Increase EGFR Mutations Detection Rate in Lung Adenocarcinoma by Real-Time PCR Screening Followed by Direct Sequencing. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
9,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
42,
19
]
} |
In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes. | biomarker | {
"id": 2641,
"name": "GCG",
"pos": [
153,
8
]
} | {
"id": "C1333600",
"name": "Hereditary Malignant Neoplasm",
"pos": [
301,
17
]
} |
Heterozygous Efnb2 murine knockout models presenting with mild ARM suggest EFNB2 as an excellent candidate gene in this region. | NA | {
"id": 1948,
"name": "EFNB2",
"pos": [
75,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
58,
4
]
} |
These effects of Wnt-5a are associated with membranous beta-catenin translocation and c-myc oncogene suppression and are mediated through an increase in intracellular Ca(2+) release, which via CaMKII pathways promotes beta-catenin phosphorylation. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
218,
12
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
68,
13
]
} |
The ApoE KO mice with HCD were associated with a marked increase in plasma lipid levels, atherosclerotic lesion area, and the expressions of NADPH oxidase subunits (p47 and Rac-1), nuclear factor-kappaB (NF-kappaB) in nucleus, phosphor-inhibitors of kappaB (p-IkappaB), tumor necrosis-alpha (TNF-alpha), monocyte chemoattractant protein-1 (MCP-1), and vascular cell-adhesion molecule-1 (VCAM-1). | NA | {
"id": 5879,
"name": "RAC1",
"pos": [
173,
5
]
} | {
"id": "C0333516",
"name": "Tumor necrosis",
"pos": [
270,
14
]
} |
In EAE-protected monkeys, IL-4-gene therapy significantly decreased the number of brain as well as spinal cord inflammatory perivenular infiltrates and the extent of demyelination, necrosis, and axonal loss. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
26,
4
]
} | {
"id": "C1832338",
"name": "Axonal loss",
"pos": [
195,
11
]
} |
In this study, we investigated whether thyroid hormone receptor beta (THRB) genetic polymorphisms can serve as a potential biomarker in patients with esophageal squamous cell carcinoma (ESCC). | NA | {
"id": 3164,
"name": "NR4A1",
"pos": [
47,
16
]
} | {
"id": "C0279626",
"name": "Squamous cell carcinoma of esophagus",
"pos": [
150,
34
]
} |
To investigate DNMT1, DNMT3a and DNMT3b enzymes in oral squamous cell carcinoma (SCC) and leukoplakia, and their relationship with histopathologic/clinical parameters. | NA | {
"id": 1788,
"name": "DNMT3A",
"pos": [
22,
6
]
} | {
"id": "C0023531",
"name": "Leukoplakia",
"pos": [
90,
11
]
} |
In general PCNA, Ki67 and p53 positivity occurred more frequently and more intensely in the OKCs, and in the syndrome-related more than the solitary, compared with the other cyst types. | NA | {
"id": 4288,
"name": "MKI67",
"pos": [
17,
4
]
} | {
"id": "C0010709",
"name": "Cyst",
"pos": [
174,
4
]
} |
Renal involvement in the pathogenesis of mineral and bone disorder in dystrophin-deficient mdx mouse. | biomarker | {
"id": 1756,
"name": "DMD",
"pos": [
70,
10
]
} | {
"id": "C0005940",
"name": "Bone Diseases",
"pos": [
53,
13
]
} |
Concentrations of both S100B and TNF-α were higher in children with autism before and after adjusting for a priori-selected confounders (age, sex, and body mass index). | biomarker | {
"id": 7124,
"name": "TNF",
"pos": [
33,
5
]
} | {
"id": "C0004352",
"name": "Autistic Disorder",
"pos": [
68,
6
]
} |
To evaluate mRNA levels of the ocular mucins MUC1, MUC2, MUC4, MUC5AC, and MUC7 in conjunctival impression cytology samples from patients with moderate to severe dry eye syndrome (DES) compared with a population of healthy subjects; and to investigate the use of the levels of these mucin genes as biomarkers of DES and subsequently as a potential diagnostic test for DES. | NA | {
"id": 4583,
"name": "MUC2",
"pos": [
51,
4
]
} | {
"id": "C0013238",
"name": "Dry Eye Syndromes",
"pos": [
162,
16
]
} |
Therefore, we designed this study to investigate whether polymorphisms of the IL10 gene were associated with cachexia in patients with low-third gastric cancer in a Chinese population. | genomic_alterations | {
"id": 3586,
"name": "IL10",
"pos": [
78,
4
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
145,
14
]
} |
Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. | genomic_alterations | {
"id": 3784,
"name": "KCNQ1",
"pos": [
84,
5
]
} | {
"id": "C1141890",
"name": "Congenital long QT syndrome",
"pos": [
21,
27
]
} |
Thirteen patients had morphologic and cytogenetic evaluation of marrow cells before 13-CRA treatment, and with one exception, marrow morphologic and cytogenetic abnormalities persisted following 13-CRA administration. | biomarker | {
"id": 51747,
"name": "LUC7L3",
"pos": [
198,
3
]
} | {
"id": "C0008626",
"name": "Congenital chromosomal disease",
"pos": [
149,
25
]
} |
TLR4 on peripheral blood monocytes and serum TNF-α and MMP-9 in patients with coronary arteriosclerosis disease may be effective markers of the vulnerable plaque. | NA | {
"id": 7099,
"name": "TLR4",
"pos": [
0,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
155,
6
]
} |
The latter variant translocation points to a localization of an unknown gene at 2q35 that, like NPM, might deregulate ALK and be involved in the pathogenesis of ALCL. | NA | {
"id": 238,
"name": "ALK",
"pos": [
118,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
19,
13
]
} |
HLA-B*1502 was associated with severe cutaneous reactions (SCR) induced by AEDs, which included carbamazepine, phenytoin, and lamotrigine (p = 0.001, odds ratio = 17.6), but was not associated with maculopapular exanthema (MPE) (p = 0.32). | NA | {
"id": 3106,
"name": "HLA-B",
"pos": [
0,
5
]
} | {
"id": "C0423791",
"name": "Maculopapular Lesion",
"pos": [
198,
23
]
} |
Role of RT-PCR and FISH in diagnosis and monitoring of acute promyelocytic leukemia. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
19,
4
]
} | {
"id": "C0023487",
"name": "Acute Promyelocytic Leukemia",
"pos": [
55,
28
]
} |
The two SH3 domain in p67-phox, a cytosolic component of the phagocyte NADPH oxidase system, may mediate interactions within the oxidase complex and direct its translocation to membranes. | NA | {
"id": 4688,
"name": "NCF2",
"pos": [
22,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
160,
13
]
} |
We found that ileal nuclear HIF-1alpha protein levels were induced in rats subjected to trauma (laparotomy) plus hemorrhagic shock for 90 min relative to their trauma sham-shock and naïve counterparts and that this trauma hemorrhagic shock-induced mucosal HIF-1alpha protein response persisted after 1 h and 3 h of reperfusion. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
256,
10
]
} | {
"id": "C0036982",
"name": "Shock, Hemorrhagic",
"pos": [
222,
17
]
} |
Melanoma differentiation associated gene-7 (Mda-7)/IL-24 was previously cloned into ZD55 (an adenovirus with E1B55 deleted) to form ZD55-IL-24, which had much better antitumor effect than Ad-IL-24. | NA | {
"id": 11009,
"name": "IL24",
"pos": [
191,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
93,
10
]
} |
The increased pulmonary SLPI caused by lard was associated with decreased pro-inflammatory cytokines and oxidative stress, which eventually resulted in the prevention of ALI. | therapeutic | {
"id": 6590,
"name": "SLPI",
"pos": [
24,
4
]
} | {
"id": "C0242488",
"name": "Acute Lung Injury",
"pos": [
170,
3
]
} |
In order to determine the effects of Trp64Arg mutation of the beta3-AR gene and C161T substitution of the PPARgamma gene on obesity in children, 105 obese Japanese children were screened by the polymerase chain reaction and restriction fragment-length polymorphism analysis. | NA | {
"id": 27319,
"name": "BHLHE22",
"pos": [
62,
5
]
} | {
"id": "C2362324",
"name": "Pediatric Obesity",
"pos": [
124,
19
]
} |
These data support the evidence that the reversal of Ang-1 and Ang-2 expression plays an important role in the angiogenic and dedifferentiation processes in HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
157,
3
]
} | {
"id": "C0002793",
"name": "Anaplasia",
"pos": [
126,
17
]
} |
In the present study we aimed to investigate the neuroprotective effect of ginsenoside Rg1 (GRg1) on neuronal damage examined in an adopted in vitro inflammatory neurodegeneration model and the involvement of p38 MAPK signal pathway. | NA | {
"id": 7088,
"name": "TLE1",
"pos": [
92,
4
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
162,
17
]
} |
We hypothesized that decreased PEDF expression may be one mechanism driving hepatoblastoma growth, and in vivo gene transfer of PEDF could suppress neovascularization and limit tumor growth. | NA | {
"id": 5176,
"name": "SERPINF1",
"pos": [
128,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
148,
18
]
} |
This region contains 247 genes including the known deafness gene MYO6. | NA | {
"id": 4646,
"name": "MYO6",
"pos": [
65,
4
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
51,
8
]
} |
Most importantly, we show that the t(11;14)(p13;q32) translocation involving LMO2 is present at strikingly high frequency in normal human thymus, and that the recombinogenic potential conferred by the LMO2 cryptic site is directly predictive of the in vivo level of translocation at that locus. | NA | {
"id": 4005,
"name": "LMO2",
"pos": [
201,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
266,
13
]
} |
Ultrasound targeted microbubble destruction for novel dual targeting of HSP72 and HSC70 in prostate cancer. | biomarker | {
"id": 3304,
"name": "HSPA1B",
"pos": [
72,
5
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
91,
15
]
} |
The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
314,
3
]
} | {
"id": "C0424939",
"name": "Learning difficulties",
"pos": [
119,
21
]
} |
The clinical picture was characterized by a progressive encephalopathy featuring early-onset developmental delay, spasticity, seizures, lactic acidosis, brain atrophy and MRI signal changes in the basal ganglia. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
171,
3
]
} | {
"id": "C0001125",
"name": "Acidosis, Lactic",
"pos": [
136,
15
]
} |
Expression of autophagosome marker LC3B-II and mitochondria-specific autophagy, mitophagy, regulator Park2, were significantly increased in the retinas of Abca4(-/-)Rdh8(-/-) mice after light exposure, suggesting involvement of autophagy and mitophagy in the pathogenesis of light-induced retinal degeneration. | NA | {
"id": 81631,
"name": "MAP1LC3B",
"pos": [
35,
4
]
} | {
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
289,
20
]
} |
These results show that dynamic MRI can be used to score synovitis objectively in early RA patients. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
32,
3
]
} | {
"id": "C0039103",
"name": "Synovitis",
"pos": [
57,
9
]
} |
We suggest abnormalities in the KCNE3 gene as a potential genetic risk factor for initiation and/or maintenance of AF. | NA | {
"id": 10008,
"name": "KCNE3",
"pos": [
32,
10
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
11,
13
]
} |
The expression of HIF-1α and KLF5 was increased time-dependently in hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
18,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
68,
7
]
} |
Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma. | genomic_alterations | {
"id": 1499,
"name": "CTNNB1",
"pos": [
79,
12
]
} | {
"id": "C4086152",
"name": "Childhood Astrocytoma",
"pos": [
242,
11
]
} |
EP4 expression was also higher in colorectal carcinoma compared with adenoma cell lines and increased with in vitro models of tumor progression. | NA | {
"id": 5734,
"name": "PTGER4",
"pos": [
0,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
126,
17
]
} |
These results suggest that EBV may contribute to the risk of BC and that this contribution may be modified by genetic variations in IFN-γ. | genomic_alterations | {
"id": 3458,
"name": "IFNG",
"pos": [
132,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
61,
2
]
} |
The mechanism of γ-H2AX on the angiogenic activity of HCC might go through EGFR/HIF-1α/VEGF pathways under hypoxic conditions. | NA | {
"id": 3014,
"name": "H2AX",
"pos": [
19,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
107,
7
]
} |
In addition, the functional role of key Akt pathway members such as PRAS40, GSK3 kinases, WEE1 kinase in melanoma development are discussed together with strategies to modulate these targets. | biomarker | {
"id": 7465,
"name": "WEE1",
"pos": [
90,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
105,
8
]
} |
The intestinal microbiota plays a central role in the development of many chronic inflammatory diseases including IBD and metabolic syndrome. | biomarker | {
"id": 27034,
"name": "ACAD8",
"pos": [
114,
3
]
} | {
"id": "C0524620",
"name": "Metabolic Syndrome X",
"pos": [
122,
18
]
} |
This cooperation between p16(INK4a) and p53 loss in tumorigenesis is consistent with the view that these genes function in distinct anticancer pathways. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
29,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
52,
13
]
} |
Toxic epidermal necrolysis in a patient with severe aplastic anemia treated with cyclosporin A and G-CSF. | therapeutic | {
"id": 1440,
"name": "CSF3",
"pos": [
101,
4
]
} | {
"id": "C0038325",
"name": "Stevens-Johnson Syndrome",
"pos": [
45,
22
]
} |
We also examined the following antigens as indicative of activation and adhesion of the monocytes in these patients: CD11b, CD18, CD35, CD38, CD44, CD69. | NA | {
"id": 969,
"name": "CD69",
"pos": [
148,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
72,
8
]
} |
There was severe neuronal loss in the SyG and DRG together with nerve fiber depletion in the nerve trunk, while only a small amount of amyloid deposition with mild fiber loss was seen in the spinal roots. | NA | {
"id": 4733,
"name": "DRG1",
"pos": [
46,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
159,
4
]
} |
In the second case, the wife presented with a mild thalassemic picture, normal HbA(2), elevated HbF (18.5%) and a beta/alpha globin chain synthesis ratio of 0.62, without iron deficiency or any known beta-thalassemia defect, while the husband was a simple carrier of the common Mediterranean IVS-I-110 (HBB:c.93-21 G>A) mutation. | NA | {
"id": 3043,
"name": "HBB",
"pos": [
303,
3
]
} | {
"id": "C0240066",
"name": "Iron deficiency",
"pos": [
171,
15
]
} |
These data suggest that the activation of STAT3 and Smad1 participates in the developing process of glomerulosclerosis in experimental glomerulonephritis. | NA | {
"id": 2617,
"name": "GARS1",
"pos": [
52,
5
]
} | {
"id": "C0017658",
"name": "Glomerulonephritis",
"pos": [
135,
18
]
} |
Our results suggest that in some families, HTRA2 p.G399S is responsible for hereditary essential tremor and that homozygotes for this allele develop Parkinson disease. | genomic_alterations | {
"id": 27429,
"name": "HTRA2",
"pos": [
43,
5
]
} | {
"id": "C0393615",
"name": "Familial Tremor",
"pos": [
76,
27
]
} |
Compared with the IRI group, both ADSCs and HRS groups can promote liver function recovery, reduce oxidative stress, reduce inflammation, and promote liver regeneration. | biomarker | {
"id": 6430,
"name": "SRSF5",
"pos": [
44,
3
]
} | {
"id": "C1318485",
"name": "Liver regeneration disorder",
"pos": [
150,
18
]
} |
In this study, we examined immunohistochemically the expression of E-cadherin and dysadherin in 120 testicular neoplasms (37 seminomas-26 classic, five spermatocytic and six anaplastic-, 45 embryonal carcinomas, 10 mixed germ cell tumours, two yolk sac tumours, 10 mature and eight immature teratomas and eight non-Hodgkin B-cell lymphomas), clinical stage I. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
67,
10
]
} | {
"id": "C0039590",
"name": "Testicular Neoplasms",
"pos": [
100,
20
]
} |
This pilot study provides preliminary evidence supporting genetic variation of EGFR (rs2227983), KRAS (rs61764370) and FCGR2A (rs180127) as useful biomarkers for predicting reduced skin toxicity in HNSCC patients treated with a cetuximab-based therapy. | genomic_alterations | {
"id": 2212,
"name": "FCGR2A",
"pos": [
119,
6
]
} | {
"id": "C1168401",
"name": "Squamous cell carcinoma of the head and neck",
"pos": [
198,
5
]
} |
There were no significant differences in genotype frequency between cases and controls for ACE or AGT irrespective of blood pressure matching. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
91,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
118,
14
]
} |
Junctional protein regulation by sphingosine kinase 2 contributes to blood-brain barrier protection in hypoxic preconditioning-induced cerebral ischemic tolerance. | NA | {
"id": 56848,
"name": "SPHK2",
"pos": [
33,
20
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
103,
7
]
} |
β2-glycoprotein I (β2-GPI) is a plasma protein that interacts with oxidized low-density lipoproteins (oxLDL) via β2-GPI domain V to form oxLDL/β2-GPI complexes, potential autoantigens promoting atherogenesis in patients with antiphospholipid syndrome (APS). | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
146,
3
]
} | {
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
194,
13
]
} |
Moreover, CCL20 neutralization or CCR6 deficiency reduces the Th17 population or insulin resistance in T-HGK cKO mice. | NA | {
"id": 1235,
"name": "CCR6",
"pos": [
34,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
81,
18
]
} |
It is concluded that, at least in patients not affected by FAP, APC gene abnormalities do not seem to play a relevant role in the pathogenesis of thyroid carcinoma. | NA | {
"id": 324,
"name": "APC",
"pos": [
64,
8
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
73,
13
]
} |
These polyploid tumour cells resist apoptosis, overcome cellular senescence and undergo bi- and multi-polar divisions transmitting the up-regulated OCT4, NANOG and SOX2 self-renewal cassette to their descendents. | NA | {
"id": 6657,
"name": "SOX2",
"pos": [
164,
4
]
} | {
"id": "C0032578",
"name": "Polyploidy",
"pos": [
6,
9
]
} |
Prophylactic inhibition of P-selectin reduced tissue inflammation and necrosis significantly. | NA | {
"id": 6403,
"name": "SELP",
"pos": [
27,
10
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
70,
8
]
} |
A t(12;16)(q13;p11) was present in three tumors, whereas the fourth had an unbalanced 12;16-translocation with breaks in 12q13 and 12q22, with loss of the 12q13-q22 segment, and in 16p11. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
15,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
92,
13
]
} |
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