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Here we report the construction of three new CRAd agents, CRAd-S.RGD, CRAd-S.F5/3 and CRAd-S.pk7, in which the tumor specificity is regulated by a tumor-specific promoter, the survivin promoter, and the viral infectivity is enhanced by incorporating a capsid modification (RGD, F5/3 or pk7) in the adenovirus fiber region. | NA | {
"id": 57482,
"name": "CRACD",
"pos": [
86,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
298,
10
]
} |
This result, combined with the mapping of the HOXA locus to human chromosome 7p15, suggested that one of the HOXA genes might be involved in the t(7;11)(p15;p15) translocation found in some human myeloid leukaemia patients. | NA | {
"id": 3197,
"name": "HOXA@",
"pos": [
109,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
162,
13
]
} |
Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1. | genomic_alterations | {
"id": 338328,
"name": "GPIHBP1",
"pos": [
83,
7
]
} | {
"id": "C2931862",
"name": "Familial hyperchylomicronemia syndrome",
"pos": [
0,
27
]
} |
Bleeding time, factor VIII activity (FVIII), vWF antigen (vWF:Ag), "vWF activity" ELISA (vWF:Act), ristocetin cofactor (vWF:RCof), and ristocetin-induced platelet aggregation (RIPA) were measured on 123 women with menorrhagia and 123 randomly selected control women; 70 cases and 76 controls were African American. | NA | {
"id": 2157,
"name": "F8",
"pos": [
37,
5
]
} | {
"id": "C0025323",
"name": "Menorrhagia",
"pos": [
214,
11
]
} |
We therefore investigated whether structural and functional abnormalities of the p27/kip1 gene and loss at the chromosome 12p13 region were present in human corticotrophin (ACTH)-secreting pituitary tumours. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
173,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
60,
13
]
} |
Mice that received adenovirus expressing SAA had increased TGF-beta concentrations in plasma and increased aortic biglycan content compared with mice that received either null virus or saline. | NA | {
"id": 6288,
"name": "SAA1",
"pos": [
41,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
19,
10
]
} |
Mutant PI3K (PIK3CA) and loss of PTEN activity were sufficient, but not necessary, as predictors of sensitivity to the antitumor activity of the PI3K inhibitor PX-866 in the presence of wild-type Ras, whereas mutant oncogenic Ras was a dominant determinant of resistance, even in tumors with coexisting mutations in PIK3CA. | genomic_alterations | {
"id": 5294,
"name": "PIK3CG",
"pos": [
145,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
280,
6
]
} |
In much the same way as specific translocations are associated with a particular AML FAB type, the identification of non-random associations of gene mutation with karyotype or FAB type may be helpful in elucidating the molecular basis of certain forms of leukemia. | genomic_alterations | {
"id": 2187,
"name": "FANCB",
"pos": [
176,
3
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
255,
8
]
} |
Overexpression or inhibition of miR181b in metastatic breast cancer cells has a significant impact on CXCL1 and -2 and is required for the effect of Curcumin on these two cytokines. miR181b also mediates the effects of Curcumin on inhibition of proliferation and invasion as well as induction of apoptosis. | biomarker | {
"id": 2919,
"name": "CXCL1",
"pos": [
102,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
263,
8
]
} |
Recent studies showed that TAR DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene, is a major pathological protein in both sporadic and familial frontotemporal lobar degeneration (FTLD). | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
79,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
132,
8
]
} |
These results suggest that cAMP regulatory cascade is constitutively activated while phospholipase C-Ca2+ signaling cascade is suppressed in hyperfunctioning thyroid adenoma with an activating mutation of G alphas gene in the present case. | NA | {
"id": 760,
"name": "CA2",
"pos": [
101,
3
]
} | {
"id": "C0151468",
"name": "Thyroid Gland Follicular Adenoma",
"pos": [
158,
15
]
} |
To investigate the relevance of an intrinsic PI3K-AKT pathway activation in hematopoietic malignancies, we analysed the effect of point mutations in the catalytic (p110alpha) and regulatory (p85alpha) subunit of class IA PI3K. | biomarker | {
"id": 5291,
"name": "PIK3CB",
"pos": [
45,
4
]
} | {
"id": "C0376544",
"name": "Hematopoietic Neoplasms",
"pos": [
76,
26
]
} |
Extreme leukocytosis, a younger age, male sex, high expression levels of CD10 and CD34, aberrant myeloid antigens, and poorer rates of survival appeared to be associated with the Ph chromosome in Thai adult ALL cases. | NA | {
"id": 4311,
"name": "MME",
"pos": [
73,
4
]
} | {
"id": "C0023518",
"name": "Leukocytosis",
"pos": [
8,
12
]
} |
NADPH oxidase5 (Nox5) is a novel Nox isoform which has recently been recognized as having important roles in the pathogenesis of coronary artery disease, acute myocardial infarction, fetal ventricular septal defect and cancer. | biomarker | {
"id": 79400,
"name": "NOX5",
"pos": [
16,
4
]
} | {
"id": "C0018818",
"name": "Ventricular Septal Defects",
"pos": [
189,
25
]
} |
Our study demonstrates that, in addition to their effect on ECM, aldosterone antagonists inhibit myocyte apoptosis and prevent post-infarct ventricular remodeling by modulating the expression levels of MR and 11beta-HSD2, which are enhanced in the remodeling heart. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
60,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
132,
7
]
} |
We found that there was an overexpression of miR-21 in esophageal specimens, having an association with cigarette smoking, and the upregulation of miR-21 was also induced by nicotine in esophageal carcinoma cell line, EC9706. | NA | {
"id": 406991,
"name": "MIR21",
"pos": [
147,
6
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
55,
10
]
} |
Deleterious mutations in the HSD3B2 gene cause the classical deficiency of 3β-HSD2, which is a rare autosomal recessive disease that leads to congenital adrenal hyperplasia (CAH). | genomic_alterations | {
"id": 6060,
"name": "RNU1-4",
"pos": [
78,
4
]
} | {
"id": "C0520463",
"name": "Chronic active hepatitis",
"pos": [
174,
3
]
} |
A Genetic Attitude Questionnaire (GAQ) was administered at two New York sites to PD families unaware of LRRK2 G2019S mutation status. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
104,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
81,
2
]
} |
IkappaBalpha -550T might be a protective factor for the development of malar rash. | NA | {
"id": 4792,
"name": "NFKBIA",
"pos": [
0,
12
]
} | {
"id": "C0277942",
"name": "Butterfly rash",
"pos": [
71,
10
]
} |
Using this assay, we demonstrate that the same aspartate mutations in PS1 that block APP processing also prevent Notch1 cleavage and translocation to the nucleus. | NA | {
"id": 4851,
"name": "NOTCH1",
"pos": [
113,
6
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
133,
13
]
} |
We also showed that bcl-2, HIF-1alpha and HSP90 proteins form a tri-complex that may contribute to enhancing the stability of the HIF-1alpha protein in bcl-2 overexpressing clones under hypoxic conditions. | NA | {
"id": 3320,
"name": "HSP90AA1",
"pos": [
42,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
186,
7
]
} |
No significant associations were found between immunoglobulin allotypes or phenotypes and all 20 parameters tested (nephritis, vasculitis, arthralgias, photosensitivity, discoid lesions, central nervous system disease, Raynaud's phenomenon, sex, anti-Ro, anti-La, anti-nRNP, HLA-DR1-DR7, HLA phenotypes B8-DR3, B7-DR2). | NA | {
"id": 8718,
"name": "TNFRSF25",
"pos": [
307,
3
]
} | {
"id": "C0027697",
"name": "Nephritis",
"pos": [
117,
9
]
} |
Recent genetic studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-type voltage-gated calcium channel (CACNA1C) gene to be overrepresented in patients suffering from bipolar disorder, schizophrenia or major depression. | genomic_alterations | {
"id": 775,
"name": "CACNA1C",
"pos": [
136,
7
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
234,
16
]
} |
Participants with genotype combinations GC/CC/GG/GG and GG/CT/GG/GG (DDX39B-22/DDX39B-348/TNF-308/IL6-176) had decreased and increased risk of mild malaria, respectively, compared with asymptomatic and uninfected participants. | NA | {
"id": 7919,
"name": "DDX39B",
"pos": [
79,
6
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
185,
12
]
} |
Inhibition of TRPA1 with a specific antagonist in these mice selectively attenuated itch-evoked scratching. | NA | {
"id": 8989,
"name": "TRPA1",
"pos": [
14,
5
]
} | {
"id": "C0033774",
"name": "Pruritus",
"pos": [
84,
4
]
} |
HIF and GR coassembled on the BRK promoter in response to either hypoxia or dexamethasone, indicating that Brk is a direct GR/HIF target. | NA | {
"id": 5753,
"name": "PTK6",
"pos": [
30,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
65,
7
]
} |
However, all four SDH genes, together with SDHAF2, have known tumour suppressor functions, with numerous germline and somatic mutations reported in association with hereditary cancer syndromes, including paraganglioma and pheochromocytoma. | genomic_alterations | {
"id": 54949,
"name": "SDHAF2",
"pos": [
43,
6
]
} | {
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
204,
13
]
} |
We collected the records of 909 patients who underwent surgical resection for lung ADC between 2005 and 2012 at five participating institutions and were also examined their EGFR mutation status. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
173,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
83,
3
]
} |
The human hepatocellular carcinoma cell line (HepG2) was treated with GBE and its flavonoid ingredients. | NA | {
"id": 2632,
"name": "GBE1",
"pos": [
70,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
10,
24
]
} |
We investigated the association between calcium intake and CASR variants with both PCa recurrence and aggressiveness (defined as Gleason score ≥4 + 3, stage ≥pT3, or nodal-positive disease). | NA | {
"id": 846,
"name": "CASR",
"pos": [
59,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
102,
14
]
} |
Intratracheal instillation of the PAR1-specific peptide TFLLRN increases lung edema during high-tidal-volume ventilation, and this effect is completely inhibited by a blocking antibody against the alpha(v)beta6 integrin. | NA | {
"id": 2149,
"name": "F2R",
"pos": [
34,
4
]
} | {
"id": "C0034063",
"name": "Pulmonary Edema",
"pos": [
73,
10
]
} |
However, the role of S100A4 itself in the development of fibrosis has not been much investigated. | NA | {
"id": 6275,
"name": "S100A4",
"pos": [
21,
6
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
57,
8
]
} |
It is remarkable that SphK1 deficiency in HER2-positive breast cancer model inhibited tumor formation by the different mechanism from ER-positive breast cancer. | biomarker | {
"id": 8877,
"name": "SPHK1",
"pos": [
22,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
86,
5
]
} |
The same effect was not observed for HDAC5+/- mice experiencing EST, suggesting that only ESI induces behavioral changes by acting precisely through HDAC5-related biological pathways. | biomarker | {
"id": 10014,
"name": "HDAC5",
"pos": [
149,
5
]
} | {
"id": "C0233514",
"name": "Abnormal behavior",
"pos": [
102,
18
]
} |
In this study, we develop a stable isogenic model of ErbB3 expression in an attempt to decipher ErbB3's true contribution to pancreatic cancer tumorigenesis and to examine how this receptor affects cellular sensitivity to EGFR-targeted therapy. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
222,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
143,
13
]
} |
Low specificity might be due to intrinsic limitations of the standard BHT or to other possible mutations, although no sequence variation was found upon sequencing a 253 bp fragment of the LCT regulatory region in asymptomatic individuals. | NA | {
"id": 3938,
"name": "LCT",
"pos": [
188,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
213,
12
]
} |
We find that polycystin-1 is the rate-limiting component of this complex and that there is a dose-response relationship between cystic dilation and levels of functional polycystin-1 following mutation of Prkcsh or Sec63. | NA | {
"id": 5589,
"name": "PRKCSH",
"pos": [
204,
6
]
} | {
"id": "C0012359",
"name": "Pathological Dilatation",
"pos": [
135,
8
]
} |
Alterations in neuropeptide Y and Y1 receptor mRNA expression in brains from an animal model of depression: region specific adaptation after fluoxetine treatment. | therapeutic | {
"id": 4852,
"name": "NPY",
"pos": [
15,
14
]
} | {
"id": "C0041696",
"name": "Unipolar Depression",
"pos": [
96,
10
]
} |
Cox regression models showed that CR and APOE ε4 independently affected the risk of progressing from normal cognition to onset of clinical symptoms: CR reduced risk by about 50% in both ε4 carriers and non-carriers, while ε4 increased risk by about 150%. | NA | {
"id": 348,
"name": "APOE",
"pos": [
41,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
4,
10
]
} |
No significant association was found between MBL2 or MASP2 alleles or genotypes, neither comparing the total patients with HCC and healthy controls nor between the different groups of HCC subjects divided for type of viral infection. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
184,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
217,
15
]
} |
Exogenous bFGF rescues spheroid-forming activity and tumorigenicity of the U87-DACH1-high cells, suggesting that loss of DACH1 increases the number of tumor-initiating cells through transcriptional activation of bFGF. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
75,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
151,
5
]
} |
Regulation of survival in adult hippocampal and glioblastoma stem cell lineages by the homeodomain-only protein HOP. | biomarker | {
"id": 6767,
"name": "ST13",
"pos": [
112,
3
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
48,
12
]
} |
Pathway analysis with genes from these 15 replicating loci revealed over-representation for the G-protein-coupled receptor (GPCR)-mediated integration of entero-endocrine signalling pathway exemplified by L-cell (adjusted p-value = 0.018). | biomarker | {
"id": 10663,
"name": "CXCR6",
"pos": [
96,
26
]
} | {
"id": "C0553665",
"name": "Skin endocrine disorder",
"pos": [
161,
9
]
} |
Within-family analyses of linkage disequilibrium, using the TDT, suggested association and linkage of ADHD with DAT1 and that this relation was especially strong with the combined but not the inattentive subtype. | NA | {
"id": 55885,
"name": "LMO3",
"pos": [
112,
4
]
} | {
"id": "C0424101",
"name": "Inattention",
"pos": [
192,
11
]
} |
To answer this question, the BRAF(V600E) mutational status of individual tumor foci was examined. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
29,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
73,
5
]
} |
This assay is based on xMap technology.Initially, by singleplex assays, we evaluated the following antigens: one Toxoplasma gondii lysate; two antigenic extracts of T. gondii (TOX8131 and TOX8122); fragments of T. gondii antigens [SAG-1 (amino acids 45-198), GRA-7 (24-100), GRA-1 (57-149), ROP-4, and MIC-3 (234-306)]; two chimeric antigens composed of fragments of SAG-1, GRA-7, and P35 (CTOX and CTOXH); and fragments of Rubella virus antigens [E-1 (157-176, 213-239, 374-390), E-2 (31-105), and C (1-123)]. | biomarker | {
"id": 928,
"name": "CD9",
"pos": [
302,
5
]
} | {
"id": "C0035920",
"name": "Rubella",
"pos": [
424,
7
]
} |
In this study, the effect of MAA on the growth of human gastric cancer cells was examined in relation to SCOT expression. | NA | {
"id": 4080,
"name": "MAA",
"pos": [
29,
3
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
56,
14
]
} |
Such sites include those that bind ligand and those that participate in the "activation" of alphaIIb beta3 required for high affinity binding of ligands such as fibrinogen or PAC1, a monoclonal antibody. | NA | {
"id": 27319,
"name": "BHLHE22",
"pos": [
101,
5
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
161,
10
]
} |
In short, NKD2 is the key molecular marker to study the progression of osteosarcoma development, and it may be used for better prognosis of the disease in early stage. | biomarker | {
"id": 85409,
"name": "NKD2",
"pos": [
10,
4
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
71,
12
]
} |
In contrast, every SD unit increase in palmitic acid was related to an increased risk of all-cause stroke (HR, 1.58 [95% CI, 1.16-2.17]), ischemic stroke (HR, 1.76 [95% CI, 1.26-2.45]), and coronary heart disease (HR, 1.48 [95% CI, 1.09-2.01]), also in APOE-ε4 carriers only. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
253,
4
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
190,
22
]
} |
In cultured NRCs exposed to hypoxia, recombinant human CEACAM1 (rhCEACAM1) reduced mitochondrial membrane potential, upregulated mitochondrial Bax, increased cytosolic cytochrome C and cleaved caspase-3, and consequently increased apoptosis. | NA | {
"id": 634,
"name": "CEACAM1",
"pos": [
55,
7
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
28,
7
]
} |
Epidermal growth factor receptor mutations in non-small-cell lung cancer: implications for treatment and tumor biology. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
0,
32
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
105,
5
]
} |
Because expression of MUM1 protein appears to be strictly regulated during lymphoid differentiation, and because expression of the molecule is retained upon neoplastic transformation, MUM1 may be added to the panel of phenotypic markers of B cell lymphoma histogenesis. | NA | {
"id": 3662,
"name": "IRF4",
"pos": [
184,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
157,
25
]
} |
In preclinical studies, mice genetically deficient in NK1R showed a marked decrease in voluntary alcohol consumption and had an increased sensitivity to the sedative effects of alcohol. | NA | {
"id": 6869,
"name": "TACR1",
"pos": [
54,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
97,
19
]
} |
Semiquantitative reverse transcription-polymerase chain reaction was used to compare expression levels of osteocalcin, core-binding factor alpha 1, and MSX2 in 34 osteosarcoma, five fibrous dysplasia, and five myositis ossificans specimens, as well as in seven normal cortical bone samples. | NA | {
"id": 4488,
"name": "MSX2",
"pos": [
152,
4
]
} | {
"id": "C0259779",
"name": "Fibrous Dysplasia",
"pos": [
182,
17
]
} |
We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe epilepsy (NFLE). | NA | {
"id": 1135,
"name": "CHRNA2",
"pos": [
108,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
201,
8
]
} |
We will also discuss the therapeutic potential of targeting the S1PRs and their downstream signalling pathways for the treatment of cancer. | biomarker | {
"id": 8720,
"name": "MBTPS1",
"pos": [
64,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
132,
6
]
} |
The TNF-alpha gene has single nucleotide polymorphisms (SNPs) at positions -308 (-308G>A) and -238 (-238G>A) in the promoter region, and the -238G>A SNP has been reported to be associated with psoriasis vulgaris (PV) and psoriatic arthritis in Caucasians. | genomic_alterations | {
"id": 7124,
"name": "TNF",
"pos": [
4,
9
]
} | {
"id": "C0003872",
"name": "Arthritis, Psoriatic",
"pos": [
230,
19
]
} |
Although these polymorphisms appear to have no association with atopic phenotypes in our population, subsequent functional studies suggest that polymorphisms in the IL-18 promoter region could affect significantly its activity. | NA | {
"id": 3606,
"name": "IL18",
"pos": [
165,
5
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
64,
6
]
} |
We constructed the family pedigree, evaluated mutations usually associated with early-onset Alzheimer's disease (APP, PSEN1, PSEN2), and assessed polymorphisms in the apolipoprotein E (APOE) gene and in cytokine genes that we had previously found to be associated with a higher risk of LOAD (IL-10, IL-6, TNF-α). | genomic_alterations | {
"id": 351,
"name": "APP",
"pos": [
113,
3
]
} | {
"id": "C0494463",
"name": "Alzheimer Disease, Late Onset",
"pos": [
286,
4
]
} |
These examinations included antithrombin, protein C, protein S, plasminogen, heparin cofactor II, activated protein C ratio, factor V Leiden mutation, fibrinogen, factors VIII and XII, euglobulin lysis time, 677 C-->T mutation of methylenetetrahydrofolate reductase (MTHFR), prothrombin 20210 (PT 20210) A allele mutation, lupus anticoagulant, anticardiolipin antibody, and complete blood count. | NA | {
"id": 3053,
"name": "SERPIND1",
"pos": [
77,
19
]
} | {
"id": "C4321325",
"name": "Lupus anticoagulant -- finding",
"pos": [
323,
19
]
} |
These findings imply that PKD1 plays a critical regulatory role in GBS-induced proinflammatory reactions and sepsis, and inhibition of PKD1 activation together with antibiotic treatment in GBS-infected neonates could be an effective way to control GBS diseases. | biomarker | {
"id": 5310,
"name": "PKD1",
"pos": [
135,
4
]
} | {
"id": "C2020625",
"name": "Group B Streptococcal Infection",
"pos": [
248,
3
]
} |
Loss of BDK function in mice and humans causes BCAA deficiency and epilepsy with autistic features. | NA | {
"id": 51742,
"name": "ARID4B",
"pos": [
47,
4
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
67,
8
]
} |
These results imply that none of the recurrent HOXB13 mutations in the Dutch population are associated with breast cancer risk, although it may be worthwhile to evaluate p.R217C in a larger study. | genomic_alterations | {
"id": 10481,
"name": "HOXB13",
"pos": [
47,
6
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
108,
13
]
} |
N-Terminal sequence analysis of the 25 kDa band demonstrated identity with PLP-C. A polyclonal antiserum to the fusion protein cross reacted with seven major proteins in rat placental culture media of which two were the native forms of PLP-C. Recombinant PLP-C was not mitogenic in the Nb2 lymphoma bioassay and did not exhibit high affinity binding to rat PRL receptor. | NA | {
"id": 53942,
"name": "CNTN5",
"pos": [
286,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
290,
8
]
} |
Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome). | NA | {
"id": 6928,
"name": "HNF1B",
"pos": [
142,
4
]
} | {
"id": "C1852759",
"name": "Papillorenal syndrome",
"pos": [
190,
23
]
} |
There were no significant gender effects, and relative reductions in FADS1, HELO1, and SCD expression were greater in patients that did not commit suicide compared with patients that did commit suicide. | NA | {
"id": 3992,
"name": "FADS1",
"pos": [
69,
5
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
194,
7
]
} |
The t(11;14) translocation resulting in constitutive cyclin D1 expression is an early event in mantle cell lymphoma (MCL) transformation. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
53,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
13,
13
]
} |
MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. | NA | {
"id": 8209,
"name": "GATD3A",
"pos": [
74,
4
]
} | {
"id": "C0025149",
"name": "Medulloblastoma",
"pos": [
82,
15
]
} |
To elucidate the molecular mechanism in relation to vascular supply and osteoporosis, we investigated the effect of hypoxia on Runx2 expression in MG63 cells. | NA | {
"id": 860,
"name": "RUNX2",
"pos": [
127,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
116,
7
]
} |
Frameshift mutations in the RIZ gene were found in 17% of melanoma samples and 8.6% of naevi, but we could not demonstrate any missense mutations in the exons of RIZ1. | NA | {
"id": 7799,
"name": "PRDM2",
"pos": [
162,
4
]
} | {
"id": "C0027962",
"name": "Melanocytic nevus",
"pos": [
87,
5
]
} |
cDNAs of freshly isolated and restimulated CD4+ T cells from patients with allergic asthma (AA) or atopic dermatitis (AD) and healthy subjects were analyzed on Nylon membrane-based DNA arrays. | NA | {
"id": 920,
"name": "CD4",
"pos": [
43,
3
]
} | {
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
99,
17
]
} |
Hemostatic status of 32 asymptomatic young individuals carrying these mutations and of 18 normal control individuals was investigated through the determination of plasma thrombomodulin (TM), prothrombin fragment 1+2 (F1+2), thrombin-antithrombin complex (TAT) and D-dimer. | NA | {
"id": 6898,
"name": "TAT",
"pos": [
255,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
24,
12
]
} |
To investigate a possible role of common polymorphisms in renin angiotensin system genes in APN-associated RPS in children. | genomic_alterations | {
"id": 5972,
"name": "REN",
"pos": [
58,
5
]
} | {
"id": "C0520575",
"name": "Acute pyelonephritis",
"pos": [
92,
3
]
} |
We hypothesized that locally produced macrophage inflammatory protein (MIP)-1alpha and monocyte chemoattractant protein (MCP)-1 via the chemokine receptors participate in the pathophysiology of human crescentic glomerulonephritis by recruiting and activating Mphi. | NA | {
"id": 822,
"name": "CAPG",
"pos": [
121,
3
]
} | {
"id": "C0403416",
"name": "Idiopathic crescentic glomerulonephritis",
"pos": [
200,
29
]
} |
"Xiusanzhen" can regulate the expression of hippocampal Bcl-2 and Bax proteins in AD rats, which may contribute to its clinical effect in relieving AD, and the therapeutic effect depends on the integrity of the olfactory nerve pathway. | therapeutic | {
"id": 581,
"name": "BAX",
"pos": [
66,
3
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
82,
2
]
} |
Our results indicate that CDH4 may act as a tumor suppressor gene in human gastrointestinal tumors and can potentially be used as an early diagnostic marker for gastrointestinal tumorigenesis. | biomarker | {
"id": 1002,
"name": "CDH4",
"pos": [
26,
4
]
} | {
"id": "C0017185",
"name": "Gastrointestinal Neoplasms",
"pos": [
75,
23
]
} |
Furthermore, these results suggest that the inhibition of the ATR-CHK1 DNA damage-response pathway might be involved in the tumorigenesis of gastric cancer with microsatellite instability. | NA | {
"id": 1111,
"name": "CHEK1",
"pos": [
66,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
124,
13
]
} |
Adenosine deaminase polymorphism and the relationship of total immunoglobulin E with skin prick test: a study on school children. | genomic_alterations | {
"id": 100,
"name": "ADA",
"pos": [
0,
19
]
} | {
"id": "C0476227",
"name": "pricking of skin",
"pos": [
85,
10
]
} |
The potential of obscurin as a therapeutic target in muscle disorders. | biomarker | {
"id": 84033,
"name": "OBSCN",
"pos": [
17,
8
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
53,
16
]
} |
The ocular albinism type 1 (OA1), a pigment cell-specific integral membrane glycoprotein, is a member of the G-protein-coupled receptor (GPCR) superfamily that binds to heterotrimeric G proteins in mammalian cells. | genomic_alterations | {
"id": 2866,
"name": "GPR42",
"pos": [
109,
26
]
} | {
"id": "C0342684",
"name": "Ocular albinism, type I",
"pos": [
4,
22
]
} |
An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes. | genomic_alterations | {
"id": 2261,
"name": "FGFR3",
"pos": [
144,
5
]
} | {
"id": "C0001080",
"name": "Achondroplasia",
"pos": [
163,
14
]
} |
Transient Receptor Potential Ankyrin 1 Channel Expression on Peripheral Blood Leukocytes from Rheumatoid Arthritic Patients and Correlation with Pain and Disability. | biomarker | {
"id": 286,
"name": "ANK1",
"pos": [
29,
9
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
145,
4
]
} |
These findings suggest that the glioma tumor suppressor gene maps to an approximately 8-cM/5-megabase region on 19q13.2-13.3 between the proximal marker APOC2 and the distal marker HRC. | biomarker | {
"id": 3270,
"name": "HRC",
"pos": [
181,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
32,
6
]
} |
The time signal curve (TIC), early enhancement rate (EER) and ADC values were measured, morphological characteristics were recorded, and the correlation between each image feature and molecular subtypes, prognostic factors (tumor size, pathological grade, lymph node metastasis, ER, PR, HER2, Ki67) was analyzed. | biomarker | {
"id": 113451,
"name": "AZIN2",
"pos": [
62,
3
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
256,
21
]
} |
When the patient and control groups were stratified by tobacco and alcohol use, the incidences of the NQO1 *2/*2 genotype were increased in patients with colon cancer for tobacco and alcohol users and nonusers, suggesting that there is no interaction between the NQO1 base 609 polymorphism and tobacco or alcohol use. | NA | {
"id": 1728,
"name": "NQO1",
"pos": [
263,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
305,
11
]
} |
Identification of OTX2 involvement in otocephaly/dysgnathia in humans, even if loss of function mutations at this locus does not sufficiently explain the complex anatomical defects of these patients, suggests the requirement for a second genetic hit. | NA | {
"id": 5015,
"name": "OTX2",
"pos": [
18,
4
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
246,
3
]
} |
Only patients with an ascertained diagnosis of either Laron syndrome (LS), congenital IGHD, congenital multiple pituitary hormone deficiency (cMPHD) including GH or GHRHR defect were included in this study. | NA | {
"id": 3495,
"name": "IGHD",
"pos": [
86,
4
]
} | {
"id": "C0857439",
"name": "Pituitary hormone deficiency",
"pos": [
112,
28
]
} |
The aim of this study was to determine the association between omentin Val109Asp and FTO rs9939609 polymorphisms and insulin resistance in newly-diagnosed T2D patients. | genomic_alterations | {
"id": 79068,
"name": "FTO",
"pos": [
85,
3
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
155,
3
]
} |
The combined null genotype (carriage of > or = 1 FLG mutations) was significantly associated with atopic eczema (P = 1.2 x 10(-4)). | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
49,
3
]
} | {
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
98,
13
]
} |
In the normal epidermis, the stratum corneum chymotryptic enzyme (SCCE) thought to play a central role in desquamation by cleaving proteins of the stratum corneum (e.g., corneodesmosin and plakoglobin). | NA | {
"id": 5650,
"name": "KLK7",
"pos": [
66,
4
]
} | {
"id": "C0237849",
"name": "Peeling of skin",
"pos": [
106,
12
]
} |
The findings of this study suggest that at least the ApaI and BsmI polymorphisms of the VDR gene and T-13910C of the LCT gene are associated with the risk of postmenopausal osteoporosis in our sample of the Belarusian women. | NA | {
"id": 3938,
"name": "LCT",
"pos": [
117,
8
]
} | {
"id": "C0029458",
"name": "Osteoporosis, Postmenopausal",
"pos": [
158,
27
]
} |
These results from HepG2 cells are consistent with the observation that HSD17B4 is highly expressed and activated NF-κB is highly co-localized with the NF-κB-responsive element of HSD17B4 in liver tumor tissues from HCC patients. | NA | {
"id": 3295,
"name": "HSD17B4",
"pos": [
180,
7
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
191,
11
]
} |
Expression of HSP27, HSP72 and MRP proteins in in vitro co-culture of colon tumour cell spheroids with normal cells after incubation with rhTGF- beta1 and/or CPT-11. | biomarker | {
"id": 65108,
"name": "MARCKSL1",
"pos": [
31,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
76,
6
]
} |
In contrast, Bcl-XL and Mcl-1 were expressed at lower levels in nevi and thin melanoma compared to Bcl-2 but their expression was much higher in thick melanoma and in subcutaneous and lymph node metastases (P<0.0001). | NA | {
"id": 598,
"name": "BCL2L1",
"pos": [
13,
6
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
64,
4
]
} |
These data provide evidence that hypoxia promotes the release of exosomes by breast cancer cells, and that this hypoxic response may be mediated by HIF-1α. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
148,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
112,
7
]
} |
MiR-208a stimulates cardiomyocyte hypertrophy, fibrosis and β-MHC (β-myosin heavy chain) expression, being involved in cardiovascular diseases. | NA | {
"id": 6520,
"name": "SLC3A2",
"pos": [
76,
11
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
47,
8
]
} |
The ε4 allele of APOE gene was shown to be associated both with an increased risk for coronary heart disease and late-onset Alzheimer disease. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
17,
4
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
86,
22
]
} |
As assessed in giant excised patch-clamp studies, apparent phosphotidylinositol 4,5-bisphosphate (PIP(2)) binding affinity of the variants was reduced, causing channels to be more susceptible to inhibition upon PIP(2) depletion. | NA | {
"id": 5304,
"name": "PIP",
"pos": [
211,
3
]
} | {
"id": "C0017547",
"name": "Gigantism",
"pos": [
15,
5
]
} |
These results imply that titin mutations may be responsible for TMD, and that the pathophysiologic pathway following calpain3 deficiency may overlap with LGMD2A. | genomic_alterations | {
"id": 7273,
"name": "TTN",
"pos": [
25,
5
]
} | {
"id": "C1834582",
"name": "MYELOPROLIFERATIVE SYNDROME, TRANSIENT",
"pos": [
64,
3
]
} |
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