text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
We submitted PKCI/HINT1 KO mice and their wild type (WT) littermates to behavioral tests used to study anti-depressant, anxiety like behaviors, and goal-oriented behavior. | NA | {
"id": 5584,
"name": "PRKCI",
"pos": [
13,
4
]
} | {
"id": "C0003467",
"name": "Anxiety",
"pos": [
120,
7
]
} |
These findings indicate that CT20126 exerts an anti-inflammatory effect through NF-kappaB-responsive inflammatory gene expression by inhibiting the NIK- and Akt-dependent canonical NF-kappaB pathway and can be used as a therapeutic agent for rheumatoid arthritis related to chronic inflammation. | NA | {
"id": 9020,
"name": "MAP3K14",
"pos": [
148,
3
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
242,
20
]
} |
Furthermore, this upregulation occurred prior to heavy proteinuria and was accompanied by increased urinary Angptl4. | NA | {
"id": 51129,
"name": "ANGPTL4",
"pos": [
108,
7
]
} | {
"id": "C4022830",
"name": "Heavy proteinuria",
"pos": [
49,
17
]
} |
Cox regression was used to estimate hazard ratios (HRs) for individual SNPs with EFS, adjusting for FLIPI or IPI and treatment. | NA | {
"id": 10278,
"name": "EFS",
"pos": [
81,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
4,
10
]
} |
APRIL significantly prolonged in vitro survival of CD5(+)B220(dull) leukemic cells derived from the murine Eμ-TCL1-Tg (TCL1-Tg [transgenic]) model for CLL. | NA | {
"id": 921,
"name": "CD5",
"pos": [
52,
3
]
} | {
"id": "C0278144",
"name": "Dull pain",
"pos": [
63,
4
]
} |
Taken together, these results indicate a key role for both InsP3R and TRPV1 in Ca<sup>2+</sup> internal stores in the PAR2-evoked Ca<sup>2+</sup> release and consequent skin inflammation in DhPKs. | genomic_alterations | {
"id": 8856,
"name": "NR1I2",
"pos": [
130,
4
]
} | {
"id": "C3875321",
"name": "Inflammatory dermatosis",
"pos": [
193,
17
]
} |
To this end, we examined the role of ADAM17 in the invasiveness of two different brain tumor cell lines, 9L rat gliosarcoma and U87 human glioma, under normoxic and hypoxic conditions. | NA | {
"id": 6868,
"name": "ADAM17",
"pos": [
37,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
165,
7
]
} |
The effect of smoking on MAOA promoter methylation in DNA prepared from lymphoblasts and whole blood. | NA | {
"id": 4128,
"name": "MAOA",
"pos": [
25,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
14,
7
]
} |
To elucidate the genetic basis of parathyroid tumor development, we examined somatic RET gene mutations in sporadic parathyroid tumors and hyperplasia secondary to uremia, and somatic MEN1 gene mutations in parathyroid hyperplasia from MEN2A patients. | NA | {
"id": 5979,
"name": "RET",
"pos": [
85,
8
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
107,
8
]
} |
Our studies show for the first time that DPAGT1 is an upstream regulator of E-cadherin N-glycosylation status and adherens junction composition and suggest that dysregulation of DPAGT1 causes disturbances in intercellular adhesion in oral cancer. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
76,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
222,
8
]
} |
The overexpression of trypsinogen-1 in MKN-1 cells stimulated cellular growth and adhesion to fibronectin and vitronectin when the trypsinogen activator enterokinase was added into the culture. | NA | {
"id": 5651,
"name": "TMPRSS15",
"pos": [
153,
12
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
82,
8
]
} |
Double-hit lymphomas (DHL) with MYC and either BCL2 or BCL6 rearrangements are rare neoplasms with an aggressive clinical presentation and grim prognosis. | genomic_alterations | {
"id": 604,
"name": "BCL6",
"pos": [
55,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
84,
9
]
} |
We investigated the influence of chemotherapy on EGFR mutations in plasma and tumor tissues from patients with NSCLC. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
49,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
78,
5
]
} |
These data demonstrate that 1) murine NK cells regulate human cell engraftment in scid recipients; 2) human CD4+ cells are required for human CD8+ cell engraftment; and 3) once engrafted, human CD8+ cells regulate human CD4+ and CD20+ cell expansion, Ig levels, and outgrowth of EBV-related lymphoproliferative disorders. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
194,
3
]
} | {
"id": "C0085110",
"name": "Severe Combined Immunodeficiency",
"pos": [
82,
4
]
} |
Dkk-1 expression in chondrocytes inhibits experimental osteoarthritic cartilage destruction in mice. | NA | {
"id": 22943,
"name": "DKK1",
"pos": [
0,
5
]
} | {
"id": "C4021973",
"name": "Cartilage destruction",
"pos": [
70,
21
]
} |
Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus. | genomic_alterations | {
"id": 90167,
"name": "FRMD7",
"pos": [
49,
5
]
} | {
"id": "C0700501",
"name": "Congenital nystagmus",
"pos": [
77,
20
]
} |
The chromosomal translocation t(1;19)(q23;p13) and its variant form der(19)t(1;19) found in 3-5% of acute lymphoblastic leukemia (ALL) results in the expression of the E2A-PBX1 fusion transcript. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
42,
3
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
100,
28
]
} |
From the clinical viewpoint, it is especially important that IL-6 acts on hepatocytes to induce acute-phase reactants, including C-reactive protein, serum amyloid A protein, and fibrinogen, and to decrease serum albumin levels. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
61,
4
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
178,
10
]
} |
The former, characterised by sentinel distal interphalangeal (IP) (DIP) or proximal IP (PIP) joint OA resembles generalised OA (GOA), whereas the latter characterised by sentinel metacarpophalangeal (MCP)2,3 OA, resembles the arthropathy associated with hereditary haemochromatosis (HH). | NA | {
"id": 822,
"name": "CAPG",
"pos": [
200,
3
]
} | {
"id": "C0022408",
"name": "Arthropathy",
"pos": [
226,
11
]
} |
Collectively, ARHGAP10 acts to suppress tumor within lung cancer by affecting metastasis and Wnt signaling pathways. | biomarker | {
"id": 79658,
"name": "ARHGAP10",
"pos": [
14,
8
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
40,
5
]
} |
GWAS replication study confirms the association of PDE3A-SLCO1C1 with anti-TNF therapy response in rheumatoid arthritis. | biomarker | {
"id": 5139,
"name": "PDE3A",
"pos": [
51,
5
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
99,
20
]
} |
Growth suppression and immunogenicity enhancement of Hep-2 or primary laryngeal cancer cells by adenovirus-mediated co-transfer of human wild-type p53, granulocyte-macrophage colony-stimulating factor and B7-1 genes. | NA | {
"id": 1437,
"name": "CSF2",
"pos": [
152,
48
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
96,
10
]
} |
Additionally, overexpression of AEG-1 protects primary and transformed human and rat cells from serum starvation-induced apoptosis through activation of PI3K/Akt signaling. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
154,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
103,
10
]
} |
Analysis of ancestral and functionally relevant CD5 variants in systemic lupus erythematosus patients. | NA | {
"id": 921,
"name": "CD5",
"pos": [
48,
3
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
64,
28
]
} |
Consistent alterations were observed in vivo that treating db/db mice with the ROCK1 inhibitor, fasudil, substantially suppressed the expression of α-SMA in the glomerular endothelium, and reduced albuminuria. | NA | {
"id": 6093,
"name": "ROCK1",
"pos": [
79,
5
]
} | {
"id": "C0001925",
"name": "Albuminuria",
"pos": [
197,
11
]
} |
These data indicate that overexpression of the EGF receptor and mutations of the p53 tumor suppressor gene are mutually exclusive events defining two different genetic pathways in the evolution of glioblastoma as the common phenotypic endpoint. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
81,
20
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
197,
12
]
} |
Therefore, we examined whether inhibition of Rac1 in the NTS decreases ROS generation, thereby reducing blood pressure in stroke-prone spontaneously hypertensive rats (SHRSPs). | NA | {
"id": 4922,
"name": "NTS",
"pos": [
57,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
104,
14
]
} |
Among markers of myxoma at least three are participants of phospholipid metabolism: ANXA3, PLA2G2A, and phospholipid transfer protein. | NA | {
"id": 306,
"name": "ANXA3",
"pos": [
84,
5
]
} | {
"id": "C0027149",
"name": "Myxoma",
"pos": [
17,
6
]
} |
The effect of G-CSF to prevent cardiac fibrosis and hypertrophy may be mediated, in part, via inhibition of OPN expression and p70S6 kinase phosphorylation. | NA | {
"id": 6696,
"name": "SPP1",
"pos": [
108,
3
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
52,
11
]
} |
This study aims to analyse the expression of Notch3, Notch4 and HES1 and HES6 as Notch-target genes in HCC, matched non-neoplastic tissue and HEPG2 cells. | NA | {
"id": 4855,
"name": "NOTCH4",
"pos": [
53,
6
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
116,
14
]
} |
AIM: To investigate the vasoactive intestinal peptides (VIP) expression in irritable bowel syndrome (IBS) and trinitrobenzene sulfonic acid (TNBS) induced colitis. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
56,
3
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
155,
7
]
} |
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. | genomic_alterations | {
"id": 2200,
"name": "FBN1",
"pos": [
22,
4
]
} | {
"id": "C0265313",
"name": "Weill-Marchesani syndrome",
"pos": [
49,
25
]
} |
Elevated matriptase expression in OA and the ability of matriptase to activate selective proMMPs as well as induce collagenase expression make this serine proteinase a key initiator and inducer of cartilage destruction in OA. | NA | {
"id": 6768,
"name": "ST14",
"pos": [
56,
10
]
} | {
"id": "C4021973",
"name": "Cartilage destruction",
"pos": [
197,
21
]
} |
We analyzed the association of BSSL genotype with set-point viral load and CD4 cell count, both pre-infection and post-infection at viral set-point. | NA | {
"id": 1056,
"name": "CEL",
"pos": [
31,
4
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
60,
10
]
} |
Interestingly, the two properdin-deficient males with meningitis differed from the other properdin-deficient persons in that they lacked the G2m(n) allotype, a marker known to be associated with poor antibody responses to T-independent antigens. | NA | {
"id": 5199,
"name": "CFP",
"pos": [
89,
9
]
} | {
"id": "C0025289",
"name": "Meningitis",
"pos": [
54,
10
]
} |
The most common chromosomal abnormality of infant acute lymphoblastic leukemia (ALL) is the t(4;11)(q21;q23) that gives rise to the MLL/AF4 fusion gene. | genomic_alterations | {
"id": 4297,
"name": "KMT2A",
"pos": [
132,
3
]
} | {
"id": "C0008626",
"name": "Congenital chromosomal disease",
"pos": [
16,
23
]
} |
Using xenograft mouse model, we confirm that ROS-inducing IKKβ inhibitor cooperates with nitrosourea to reduce tumor size and malignancy in vivo. | biomarker | {
"id": 3551,
"name": "IKBKB",
"pos": [
58,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
126,
10
]
} |
Neuropilin-1 and 2 (NRP) are novel specific receptors of VEGF(165), whose role is unknown in human neuroblastoma. | biomarker | {
"id": 8829,
"name": "NRP1",
"pos": [
0,
12
]
} | {
"id": "C0700095",
"name": "Central neuroblastoma",
"pos": [
99,
13
]
} |
We investigated the role of NOD1 and NOD2 as intracellular recognition molecules for pathogen-associated molecules in H. pylori infection in vitro and analysed the influence of single nucleotide polymorphisms on susceptibility to ulcer disease and MALT lymphoma. | genomic_alterations | {
"id": 64127,
"name": "NOD2",
"pos": [
37,
4
]
} | {
"id": "C1850900",
"name": "Familial primary gastric lymphoma",
"pos": [
248,
13
]
} |
Based on these, it is concluded that somatic mutations of the RET proto-oncogene or the GDNF gene do not appear to play a major role in the pituitary tumorigenesis in examined tumors. | NA | {
"id": 5979,
"name": "RET",
"pos": [
62,
18
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
150,
13
]
} |
Similar FISH studies of ovarian carcinoma cell lines found chromosome 19 abnormalities even after extensive in vitro culture. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
8,
4
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
24,
17
]
} |
This study suggests that transfer of SOCS3 by an oncolytic adenovirus represents a potent approach for cancer therapy. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
37,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
59,
10
]
} |
The 10-year EFS and OS for all patients with MYCN-non-amplified NB were 74.9+/-16.9% and 92.6+/-5.5%, respectively. | biomarker | {
"id": 4613,
"name": "MYCN",
"pos": [
45,
4
]
} | {
"id": "C1336257",
"name": "Stage 3 Neuroblastoma",
"pos": [
64,
2
]
} |
CD31 gene polymorphisms are implicated in the pathogenesis of graft-versus-host disease (GvHD) following haematopoietic stem cell transplantation (HST). | NA | {
"id": 2249,
"name": "FGF4",
"pos": [
147,
3
]
} | {
"id": "C0018133",
"name": "Graft-vs-Host Disease",
"pos": [
62,
25
]
} |
These effects of C10ORF97 were mediated by physical association between C10ORF97 and Jun-activating domain-binding protein-1 (JAB1), and blocking of JAB1-mediated translocation of p27 from the nucleus to the cytoplasm. | NA | {
"id": 10671,
"name": "DCTN6",
"pos": [
180,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
163,
13
]
} |
Smad2 mutants exhibit early embryonic lethality, while Smad3 mutants are viable, but show a plethora of postnatal phenotypes, including immune dysfunction and skeletal abnormalities. | NA | {
"id": 4088,
"name": "SMAD3",
"pos": [
55,
5
]
} | {
"id": "C0232370",
"name": "Florid red complexion (finding)",
"pos": [
92,
8
]
} |
The extended haplotype 6A3/1A1, which includes SFTPA1 and SFTPA2, was associated with lower pulmonary function, using FEV1 (P = 0.005) and poor pulmonary scores which were determined by American Medical Association, American Thoracic Society, and modified Shwachman-Kulczycki scores. | NA | {
"id": 729238,
"name": "SFTPA2",
"pos": [
58,
6
]
} | {
"id": "C3160731",
"name": "Pulmonary function (finding)",
"pos": [
92,
18
]
} |
Iron deficiency may diminish the level of HbA2 in healthy control subjects and in patients with heterozygous beta-thalassemia; in addition, it may reduce the amount of variant hemoglobin in certain hemoglobinopathies. | NA | {
"id": 3040,
"name": "HBA2",
"pos": [
42,
4
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
176,
10
]
} |
Ductal carcinoma in situ cells surrounding the central necrosis have high hypoxia inducible factor-1alpha protein levels, down-regulated estrogen receptor-alpha, and increased expression of the epithelial breast stem cell marker cytokeratin 19; lose their polarization; and acquire an increased nucleus/cytoplasm ratio, hallmarks of poor architectural and cellular differentiation. | NA | {
"id": 3880,
"name": "KRT19",
"pos": [
229,
14
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
55,
8
]
} |
The occurrence of APP duplication in probands from 25 families with FAD and 11 sporadic EO-AD cases in the Japanese population was examined by quantitative PCR and microarray-based comparative genomic hybridisation analyses. | NA | {
"id": 351,
"name": "APP",
"pos": [
18,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
79,
8
]
} |
We observed hyperexpression of miR-150 (1.7-fold); no different expression of miR-16-1, miR-21, and miR23a; and an underexpression of miR-141, let-7a, miR-16, miR-449, miR-145, miR-143, miR-23b, miR-15a, and miR-24-2 (ranging from -7.5 to -2.5-fold; p = 0.02) in craniopharyngioma. | NA | {
"id": 406937,
"name": "MIR145",
"pos": [
168,
7
]
} | {
"id": "C0010276",
"name": "Craniopharyngioma",
"pos": [
263,
17
]
} |
Previous allelic deletion studies in enteropancreatic ETs suggested MEN1 gene involvement in tumorigenesis of familial pancreatic ETs (nongastrinomas) and sporadic gastrinomas. | NA | {
"id": 4221,
"name": "MEN1",
"pos": [
68,
9
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
155,
8
]
} |
PTP was found to induce p53 protein and activated transcription of downstream genes, such as p21 and PUMA, in HCT116 cells, leading to growth delay, G1-phase cell cycle arrest, cell senescence and cell death. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
93,
3
]
} | {
"id": "C0456070",
"name": "Growth delay",
"pos": [
135,
12
]
} |
SKI-II and SKI-178 also induced apoptosis in primary NK-LGLs from leukemia patients. | NA | {
"id": 55733,
"name": "HHAT",
"pos": [
0,
3
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
66,
8
]
} |
We selected 4 human esophageal squamous cell carcinoma cell lines (TT, TE2, TE6, and TE10), and determined their expression of EGFR and HER2. | NA | {
"id": 8260,
"name": "NAA10",
"pos": [
71,
3
]
} | {
"id": "C0279626",
"name": "Squamous cell carcinoma of esophagus",
"pos": [
20,
34
]
} |
In contrast, ISS inhalation has unexplained toxicity in rodents, which express TLR9 in monocyte/macrophage lineage cells as well as in plasmacytoid DCs (pDCs) and B cells, the principal TLR9-expressing cells in humans. | NA | {
"id": 54106,
"name": "TLR9",
"pos": [
186,
4
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
17,
10
]
} |
Our findings underscore the complexity of this regulation and point to a new role for FLVCR and heme export in macrophages responses to infection and inflammation. | NA | {
"id": 28982,
"name": "FLVCR1",
"pos": [
86,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
150,
12
]
} |
Since 5-hmC is generated from 5-mC by ten-eleven-translocation (TET) enzymes, analysis of TET mRNAs (TET1, TET2, and TET3) in MDA-MB-231 cells indicated a concentration-dependent reduction in TET1 and induction of TET3; however, TET2 remained unaltered. | NA | {
"id": 80312,
"name": "TET1",
"pos": [
192,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
49,
13
]
} |
All three compounds inhibited E(2)-induced ERE- and AP-1-mediated transactivation and proliferation in endometrial adenocarcinoma cells dose-dependently. | NA | {
"id": 2353,
"name": "FOS",
"pos": [
52,
4
]
} | {
"id": "C1153706",
"name": "Endometrial adenocarcinoma",
"pos": [
103,
26
]
} |
This study investigated the expression of the period 1 clock gene product (PER1), which is involved in circadian rhythms, and inducible nitric oxide synthase (iNOS), thought to generate nitric oxide, important in rapid eye movement (REM) sleep regulation. | NA | {
"id": 5187,
"name": "PER1",
"pos": [
75,
4
]
} | {
"id": "C0008810",
"name": "Circadian Rhythms",
"pos": [
103,
17
]
} |
We have characterized a tandem duplication mutation within a COL1A1 allele of type I collagen from an infant with the lethal form of osteogenesis imperfecta. | genomic_alterations | {
"id": 1277,
"name": "COL1A1",
"pos": [
61,
6
]
} | {
"id": "C0029434",
"name": "Osteogenesis Imperfecta",
"pos": [
133,
23
]
} |
Oriental males carrying the inactive ALDH2(-) allele drink two-thirds less alcohol (6.1 +/- 1.5 vs. 18.2 +/- 2.8 drinks/4 weeks; p < 0.001), show one-third the prevalence of binge drinking (15.2 vs. 42.2%; p < 0.01), and are three times more likely to be abstainers (39.4 vs. 13.3%; p < 0.01) than Oriental ALDH2(+) males carrying the gene for the active enzyme. | NA | {
"id": 217,
"name": "ALDH2",
"pos": [
307,
5
]
} | {
"id": "C0556346",
"name": "Binge Drinking",
"pos": [
174,
14
]
} |
Monoamine oxidase A mediates prostate tumorigenesis and cancer metastasis. | NA | {
"id": 4128,
"name": "MAOA",
"pos": [
0,
19
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
38,
13
]
} |
HER-2 status did not correlate with pathologic or clinical response (assessed by physical examination or imaging), although a nonsignificant trend was noted toward better response in patients with breast tumors that overexpressed HER-2. | therapeutic | {
"id": 2064,
"name": "ERBB2",
"pos": [
0,
5
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
197,
13
]
} |
In addition, these studies show that the membrane translocation of certain PH domain-containing molecules can be greatly perturbed by the alkylphospholipid class of drugs and imply further that the PI3K/Akt pathway contributes to regulation of p21(WAF1/CIP1) expression. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
253,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
50,
13
]
} |
FCGR3A and KIR genotype significantly influenced survival after diagnosis of posttransplantation lymphoma: the hazard of dying was reduced in homozygous carriers of the high-affinity V allele (hazard ratio 0.49, 95% confidence interval 0.29-0.82, P = .006), whereas carrying a genotype including KIR2DL2/KIR2DS2 increased the risk of dying (hazard ratio 1.49, 95% confidence interval 1.07-2.05, P = .02). | genomic_alterations | {
"id": 100132285,
"name": "KIR2DS2",
"pos": [
304,
7
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
97,
8
]
} |
Thrombin stimulation of inflammatory breast cancer cells leads to aggressiveness via the EGFR-PAR1-Pak1 pathway. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
89,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
66,
14
]
} |
The t(1;22)(p13;q13) is a nonrandom chromosomal abnormality in acute leukemia with the fusion oncogene, RBM15-MKL1 (OTT-MAL), identified recently. | NA | {
"id": 57591,
"name": "MRTFA",
"pos": [
120,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
36,
23
]
} |
Treatment with anti-E-selectin antibody significantly reduced the development of metastasis in vivo, and significantly reduced the adhesion of 4T1 cells to MPVECs in vitro. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
20,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
131,
8
]
} |
VEGF overexpression is positively correlated with young age (P = 0.008), male gender (P = 0.01), hepatitis B viremia (P = 0.013), high alpha-fetoprotein levels (P < 0.001), p53 (+) (P = 0.036), advanced-stage HCC (P = 0.015), and HCC dedifferentiation (P = 0.004). | NA | {
"id": 174,
"name": "AFP",
"pos": [
135,
17
]
} | {
"id": "C0042749",
"name": "Viremia",
"pos": [
109,
7
]
} |
Our data clearly reflect such tumor promotion, showing that deregulation of key proteins involved in apoptosis (BCL2-related protein A1 and Fas apoptotic inhibitory molecule), cell cycle checkpoints (AKIP, SCYL1, and NIN), and metastasis (matrix metalloproteinase 1) is closely correlated with the levels of EBV gene expression in NPC. | NA | {
"id": 4312,
"name": "MMP1",
"pos": [
239,
26
]
} | {
"id": "C1519689",
"name": "Tumor Promotion",
"pos": [
30,
15
]
} |
The results indicate that 3D-CRT plans in DIBH pose the lowest risk for both major coronary events and secondary lung cancer. | biomarker | {
"id": 6535,
"name": "SLC6A8",
"pos": [
29,
3
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
103,
21
]
} |
Here we show that a subtle activation of p38 MAPK is sufficient to suppress tumorigenesis as measured by the ability to form tumors when MKK6-inducible cells were explanted into nude mice. | NA | {
"id": 5608,
"name": "MAP2K6",
"pos": [
137,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
76,
13
]
} |
We recently identified a common variant in the promoter region of MUC5B (rs35705950) that has a significant effect on the risk of developing both familial and sporadic forms of IP. | NA | {
"id": 727897,
"name": "MUC5B",
"pos": [
66,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
159,
8
]
} |
Although individuals with insulin dependent diabetes mellitus are very prone to have either HLA-DR3 or -DR4 antigens, none of our patients had DR3 antigens and only one was DR4 positive. | NA | {
"id": 8797,
"name": "TNFRSF10A",
"pos": [
173,
3
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
26,
35
]
} |
Detection rates for any and Gleason score 7-10 cancer in targeted and overall biopsy were calculated and predictive values were calculated for different PI-RADS and PSA density (PSAD) groups. | genomic_alterations | {
"id": 354,
"name": "KLK3",
"pos": [
165,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
47,
6
]
} |
Conventional transbronchial needle aspiration is promising for identifying EGFR mutations in lung adenocarcinoma. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
75,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
93,
19
]
} |
Group 1 target genes are up-regulated during the normal window of implantation but significantly decreased in women with endometriosis: IL-15, proline-rich protein, B61, Dickkopf-1, glycodelin, N-acetylglucosamine-6-O-sulfotransferase, G0S2 protein, and purine nucleoside phosphorylase. | NA | {
"id": 50486,
"name": "G0S2",
"pos": [
236,
4
]
} | {
"id": "C0014175",
"name": "Endometriosis",
"pos": [
121,
13
]
} |
This study was aimed at investigating the prognostic significance of Baculoviral IAP repeat containing 5 (BIRC5) in lung adenocarcinoma (LAD) lacking EGFR, KRAS, and ALK mutations (triple-negative (TN) adenocarcinomas). | genomic_alterations | {
"id": 238,
"name": "ALK",
"pos": [
166,
3
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
202,
15
]
} |
To address the impact of mutated PC-1 on intercellular adhesion, we have analyzed the structure/function of desmosomal junctions in primary cells derived from ADPKD cysts. | NA | {
"id": 5167,
"name": "ENPP1",
"pos": [
33,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
55,
8
]
} |
Here, we report an inherent dependency of melanoma cells on the small GTPase RAB7, identified within a lysosomal gene cluster that distinguishes this malignancy from over 35 tumor types. | biomarker | {
"id": 338382,
"name": "RAB7B",
"pos": [
77,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
150,
10
]
} |
Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. | biomarker | {
"id": 3423,
"name": "IDS",
"pos": [
81,
6
]
} | {
"id": "C0086651",
"name": "Mucopolysaccharidosis, MPS-IV-A",
"pos": [
101,
7
]
} |
The diminishment of metastasis and invasion is associated with down-regulation of genes including MMP-2, S100A, LAMA4, and HDAC10, as well as up-regulation of genes such as MTSS1 and FSTL1 as revealed by gene chip analysis. | genomic_alterations | {
"id": 9788,
"name": "MTSS1",
"pos": [
173,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
35,
8
]
} |
We conclude that NLRP12/NLRP3-dependent activation of caspase-1 is likely to be a key event in mediating systemic production of IL-1β and hypersensitivity to secondary bacterial infection during malaria. | NA | {
"id": 114548,
"name": "NLRP3",
"pos": [
24,
5
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
138,
16
]
} |
Molecular subtyping of HLA-DRB1*04 alleles in RA patients showed strongest association with highest relative risk with DRB1*0404. | genomic_alterations | {
"id": 129831,
"name": "RBM45",
"pos": [
119,
4
]
} | {
"id": "C0002893",
"name": "Refractory anemias",
"pos": [
46,
2
]
} |
To assess the possibility of the involvement of the GRIA3 gene in familial cases of complex BP, a large set of 373 individuals from 40 pedigrees segregating BP were genotyped using closely linked (DXS1001) and intragenic (DXS1212 and GRIA3 3' UTR (AC)(n))) GRIA3 STR markers. | biomarker | {
"id": 2837,
"name": "UTS2R",
"pos": [
248,
7
]
} | {
"id": "C2700438",
"name": "MAJOR AFFECTIVE DISORDER 7",
"pos": [
157,
2
]
} |
Absent to low expression of a 9q32 candidate tumor suppressor gene (TSG), DEC1 (deleted in esophageal cancer 1), is detected in four Asian ESCC cell lines. | NA | {
"id": 57045,
"name": "TWSG1",
"pos": [
68,
3
]
} | {
"id": "C0014859",
"name": "Esophageal Neoplasms",
"pos": [
91,
17
]
} |
Methylation levels in MOS in non-neoplastic gastric mucosae increased in the presence of GC, regardless of H. pylori infection status (p < 0.01). | NA | {
"id": 4342,
"name": "MOS",
"pos": [
22,
3
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
29,
14
]
} |
Finally, no abnormalities in RAR-alpha gene structure or expression were identified by Southern and Northern blot analysis, including lines with cytogenetic abnormalities of 17q21. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
33,
10
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
145,
25
]
} |
The activity of hypoxia-inducible factors-1alpha (HIF-1alpha) is regulated by two types of hydroxylases, prolyl-hydroxylase (PHD) and aspargynyl-hydroxylase factor inhibiting HIF-1alpha (FIH). | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
50,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
16,
7
]
} |
Intestinal inflammation and autoimmunity in carriers of CTLA-4 Y60C exhibit incomplete penetrance with a spectrum of clinical presentations ranging from asymptomatic carrier status to fatal autoimmunity and intestinal inflammation. | NA | {
"id": 1493,
"name": "CTLA4",
"pos": [
56,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
218,
12
]
} |
Flubendazole elicits anti-metastatic effects in triple-negative breast cancer via STAT3 inhibition. | biomarker | {
"id": 6774,
"name": "STAT3",
"pos": [
82,
5
]
} | {
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
48,
29
]
} |
Reports of variable cancer penetrance in Li-Fraumeni syndrome (LFS) have raised questions regarding the prevalence of pathogenic germline TP53 variants. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
138,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
20,
6
]
} |
A dendritic cell (DC) imbalance with a marked deficiency in CD4- 8+ DC occurs in non-obese diabetic (NOD) mice, a model of human autoimmune diabetes mellitus. | NA | {
"id": 920,
"name": "CD4",
"pos": [
60,
3
]
} | {
"id": "C0205734",
"name": "Diabetes, Autoimmune",
"pos": [
129,
19
]
} |
The effects of antioxidant pretreatment on ET-1-induced cardiac hypertrophy and mitogen-activated protein kinase (MAPKs) phosphorylation were studied to elucidate the redox-sensitive pathway in cardiomyocyte hypertrophy and beta-MyHC gene expression. | NA | {
"id": 4624,
"name": "MYH6",
"pos": [
229,
4
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
56,
19
]
} |
The effects of KAI1 on the adhesion, motility and invasiveness of colon cancer cells was therefore investigated by using two kinds of stable transfectants, i.e., antisense transfectants of BM314 cells whose KAI1 mRNA expression was suppressed by transfer of antisense KAI1 cDNA and sense transfectants of DLD-1 cells with the enhanced KAI1 mRNA by sense cDNA transfer. | NA | {
"id": 3732,
"name": "CD82",
"pos": [
335,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
27,
8
]
} |
Variables included in the study were dopaminergic genes (ANKK1 TaqI A, DRD2 C957T, DRD4 7R, COMT Val/Met substitution, and SLC6A3 9R) and a GABAergic gene (GABRB3), all combinations of genes, a count of the number of hypodopaminergic genotypes, personality traits, neurocognitive factors, depressive symptoms, and environmental factors. | NA | {
"id": 2562,
"name": "GABRB3",
"pos": [
156,
6
]
} | {
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
289,
19
]
} |
In contrast, we report that both overexpression and silencing of ARD1 had no impact on the stability of HIF-1alpha or -2alpha and that cells silenced for ARD1 maintained hypoxic nuclear localization of HIF-1alpha. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
202,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
170,
7
]
} |
Carriers of the FMR1 premutation allele are at a significantly increased risk for a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). | genomic_alterations | {
"id": 2332,
"name": "FMR1",
"pos": [
16,
4
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
95,
26
]
} |
The percentage of patients with altered protein expression of HOXA-10 in stromal cells were significantly higher in patients with only superficial peritoneal endometriosis (100%, 20/20, P < 0.05) compared with the other infertile groups (deep infiltrating endometriosis: 72.7%, 16/22; ovarian endometriosis: 70.0%, 14/20; uterine myoma: 68.8%, 11/16; unexplained infertility: 55.6%, 5/9). | NA | {
"id": 3197,
"name": "HOXA@",
"pos": [
62,
4
]
} | {
"id": "C0014175",
"name": "Endometriosis",
"pos": [
256,
13
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.