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|---|---|---|---|
The association between the IL-20-1723C→G allele on the 1q chromosome and psoriasis triggered or exacerbated by an upper respiratory tract infection in the Chinese Han population.
|
genomic_alterations
|
{
"id": 27190,
"name": "IL17B",
"pos": [
28,
5
]
}
|
{
"id": "C0041912",
"name": "Upper Respiratory Infections",
"pos": [
115,
33
]
}
|
Msi1 promotes tumor progression by epithelial-to-mesenchymal transition in cervical cancer.
|
biomarker
|
{
"id": 4440,
"name": "MSI1",
"pos": [
0,
4
]
}
|
{
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
75,
15
]
}
|
In the present study, the efficacy of mouse p16 peptide administration in a mouse lung metastasis model for BT and also the toxicity of peptides by cardiac peptide injection were evaluated.
|
biomarker
|
{
"id": 115482713,
"name": "H3P10",
"pos": [
44,
3
]
}
|
{
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
82,
15
]
}
|
This study suggests that, under ischemic insults, Shh triggers Ang-1 production predominantly in astrocytes, and the secreted Ang-1 acts on BMECs, thereby upregulating ZO-1 and occludin to repair the tight junction and ameliorate the brain edema and BBB leakage.
|
NA
|
{
"id": 7082,
"name": "TJP1",
"pos": [
168,
4
]
}
|
{
"id": "C1527311",
"name": "Brain Edema",
"pos": [
234,
11
]
}
|
We compare the clinical characteristics of our patients with those previously reported to have either SMC including 17p or duplications of proximal 17p in an effort to further delineate the phenotype of trisomy 17p10-p11.2 and to elucidate genotype-phenotype correlations.
|
NA
|
{
"id": 8909,
"name": "ENDOU",
"pos": [
217,
3
]
}
|
{
"id": "C0041107",
"name": "Trisomy",
"pos": [
203,
7
]
}
|
Our findings suggest that soluble CXCL16 could be linked to atherogenesis not only as a marker of inflammation, but also as a potential inflammatory mediator.
|
NA
|
{
"id": 58191,
"name": "CXCL16",
"pos": [
34,
6
]
}
|
{
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
60,
13
]
}
|
The present study demonstrates that adenovirus-mediated transduction of E. coli UPRT gene results in marked sensitization of colon, gastric, liver, and pancreas cancer cell lines to low concentration of 5-FU in vitro.
|
NA
|
{
"id": 139596,
"name": "UPRT",
"pos": [
80,
9
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
36,
10
]
}
|
The GABA<sub>B</sub> antagonist exhibited proconvulsant effect in P15 and P18 SE as well as LiPAR rats returning the incidence of PTZ-induced seizures to values of control animals.
|
genomic_alterations
|
{
"id": 122664,
"name": "TPPP2",
"pos": [
86,
3
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
154,
8
]
}
|
The work demonstrates that other than gene amplification, a single somatic mutation in ACK1 can result in extended protein stability enabling the oncoprotein to exert its oncogenic function in tumor progression.
|
NA
|
{
"id": 10188,
"name": "TNK2",
"pos": [
87,
4
]
}
|
{
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
67,
16
]
}
|
We have searched for association between 119 SNPs in genes implicated in monoaminergic pathways [tryptophan hydroxylase 1 (TPH1), TPH2, tyrosine hydroxylase (TH), DOPA decarboxylase (DDC), dopamine beta-hydroxylase (DBH), catechol-O-methyltransferase (COMT), monoamine oxidase A (MAOA) and MAOB] and monoamine metabolite concentrations in CSF in 74 patients with psychotic disorder.
|
genomic_alterations
|
{
"id": 1644,
"name": "DDC",
"pos": [
163,
18
]
}
|
{
"id": "C0033975",
"name": "Psychotic Disorders",
"pos": [
363,
18
]
}
|
Using three-dimensional human skin models, we demonstrate that lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases, and we confirm the role of corneodesmosin as a decisive epidermal adhesion molecule.
|
NA
|
{
"id": 1041,
"name": "CDSN",
"pos": [
211,
14
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
167,
6
]
}
|
We have screened seven genes known to reside in or very close to this overlap consensus region, UBE4B/UFD2, KIF1B, DFFA, PGD, CORT, PEX14, and ICAT, for coding mutations in NBL tumor DNA.
|
genomic_alterations
|
{
"id": 56998,
"name": "CTNNBIP1",
"pos": [
143,
4
]
}
|
{
"id": "C0700095",
"name": "Central neuroblastoma",
"pos": [
173,
3
]
}
|
In human cancer xenografts in nude mice, tumor growth was inhibited markedly after injections of adenovirus expressing hSulf-1, with the tumor inhibition rates of 46.19% and 49.56% in ovarian and hepatocellular tumor models, respectively.
|
NA
|
{
"id": 23213,
"name": "SULF1",
"pos": [
119,
7
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
97,
10
]
}
|
CONCLUSION: Our study verified both Notch-1 and EGFR involved in GBM tumorigenesis and may provide important information for GBM clinical treatment and prognosis.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
48,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
69,
13
]
}
|
A disruption of sorting nexin 3 (SNX3) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no SNX3 mutations were identified in another sporadic case of MMEP, suggesting involvement of another gene.
|
NA
|
{
"id": 8724,
"name": "SNX3",
"pos": [
184,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
226,
8
]
}
|
The PAX8-PPARG gene fusion results in the production of a Pax-8-PPAR-γ fusion protein (PPFP), which is found in approximately one-third of follicular thyroid carcinomas, as well as some follicular-variant papillary thyroid carcinomas.
|
genomic_alterations
|
{
"id": 5468,
"name": "PPARG",
"pos": [
9,
5
]
}
|
{
"id": "C0206682",
"name": "Follicular thyroid carcinoma",
"pos": [
139,
29
]
}
|
Mutation-specific RAS oncogenicity explains NRAS codon 61 selection in melanoma.
|
genomic_alterations
|
{
"id": 4893,
"name": "NRAS",
"pos": [
44,
4
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
71,
8
]
}
|
Compared with MCAO group, By-H group significantly ameliorated neurological deficit, lessened the infarct volume and brain edema, increased the expression of Nrf2, HO-1 and SOD1 (P<0.05), and decreased the content of MDA (P<0.05).
|
NA
|
{
"id": 6647,
"name": "SOD1",
"pos": [
173,
4
]
}
|
{
"id": "C0521654",
"name": "Neurologic Deficits",
"pos": [
63,
20
]
}
|
The most common nonrandom translocation found among childhood pre-B acute lymphoblastic leukemias (ALL) is t(1;19)(q23;p13), which frequently results in fusion of E2A with PBX1.
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
119,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
26,
13
]
}
|
Here we show that inducible costimulatory molecule (ICOS)(-/-) mice develop greatly augmented host resistance against chlamydial infection.
|
NA
|
{
"id": 29851,
"name": "ICOS",
"pos": [
52,
4
]
}
|
{
"id": "C0008149",
"name": "Chlamydia Infections",
"pos": [
118,
20
]
}
|
Therefore, our data demonstrated that TLR2 could be a promising biomarker and a potential immunotherapeutic target for lung cancer.
|
biomarker
|
{
"id": 7097,
"name": "TLR2",
"pos": [
38,
4
]
}
|
{
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
119,
11
]
}
|
However, no influence of ACE and AT1R polymorphisms on left ventricular mass was found, regardless of systemic hypertension.
|
NA
|
{
"id": 185,
"name": "AGTR1",
"pos": [
33,
4
]
}
|
{
"id": "C0455825",
"name": "Left ventricular mass",
"pos": [
55,
21
]
}
|
To test the hypothesis that polymorphisms in antioxidant genes are more susceptible to sperm DNA damage and male infertility, we examined 11 single-nucleotide polymorphisms from six antioxidant genes (GPX1, CAT, PON1, NQO1, SOD2/MnSOD, and SOD3) in 580 infertility cases and 580 controls from a Chinese population-based case-control study (NJMU Infertility Study).
|
NA
|
{
"id": 2876,
"name": "GPX1",
"pos": [
201,
4
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
253,
11
]
}
|
However, this linkage has not been studied in Chinese population and there has been no meta-analysis on the interrelationship of FCRL3 gene and endometriosis-related infertility.
|
NA
|
{
"id": 115352,
"name": "FCRL3",
"pos": [
129,
10
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
166,
11
]
}
|
We studied 80 obese adolescents (age 13.3 ± 3.31 years; body mass index 33.0 ± 6.79 kg/m(2)), who underwent an oral glucose tolerance test, a magnetic resonance imaging (MRI) to measure the hepatic fat content, and the measurement of OXFAs and caspase-cleaved Citokeratin18 fragment (CK-18), a robust biomarker of liver injury.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
170,
3
]
}
|
{
"id": "C0028754",
"name": "Obesity",
"pos": [
14,
5
]
}
|
In control rats, CX43 immunostaining was diffuse in the hippocampus; in the epileptic rats, diffuse CX43-positive varicosities appeared in the molecular layer and stratum oriens of the CA1 and CA3 areas 2 after seizure onset, and the number, length and immunostaining intensity of the varicosities increased at 12 h. These changes became the most prominent at 24 h after seizure onset, followed by gradual decrease of the immunoactivity, which was virtually absent till 30 and 60 days.
|
NA
|
{
"id": 759,
"name": "CA1",
"pos": [
185,
3
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
371,
7
]
}
|
A concordance rate of 78.2% (Cohen's K statistic: 0,548 95% CI:[0,419-0,677]) between in situ hybridization and MLPA was found in the whole series of 170 cases and of 55.5% (Cohen's K statistic: -0,043 95% CI:[-0,271-0,184]) in the 54 tumors presenting 4.0-5.9 HER2 gene s/n.
|
genomic_alterations
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
261,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
235,
6
]
}
|
Whereas Twist1 gene expression was independent of beta(1) integrin-mediated adhesion, Twist1 protein failed to accumulate in the nuclei of cells cultured in anchorage-independent conditions.
|
NA
|
{
"id": 7291,
"name": "TWIST1",
"pos": [
8,
11
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
76,
8
]
}
|
Recently, the first de novo mutations in KIF1A were identified in patients with an early-onset severe form of complicated hereditary spastic paraplegia.
|
genomic_alterations
|
{
"id": 547,
"name": "KIF1A",
"pos": [
41,
5
]
}
|
{
"id": "C0393556",
"name": "Complicated hereditary spastic paraplegia",
"pos": [
110,
41
]
}
|
Importantly, heparanase of epidermal origin appears to facilitate abnormal activation of skin-infiltrating macrophages, thus generating psoriasis-like inflammation conditions, characterized by induction of STAT3, enhanced NF-κB signaling, elevated expression of TNF-α and increased vascularization.
|
NA
|
{
"id": 6774,
"name": "STAT3",
"pos": [
206,
5
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
282,
15
]
}
|
Proliferative effects of the P2X7 receptors in vivo were examined using a xenotransplant model of pancreatic cancer cell lines.
|
biomarker
|
{
"id": 5027,
"name": "P2RX7",
"pos": [
29,
4
]
}
|
{
"id": "C0346647",
"name": "Malignant neoplasm of pancreas",
"pos": [
98,
17
]
}
|
We performed a replication study in a Japanese population to evaluate the association between type 2 diabetes and 7 susceptibility loci originally identified by European genome-wide association study (GWAS) in 2012: ZMIZ1, KLHDC5, TLE1, ANKRD55, CILP2, MC4R, and BCAR1.
|
genomic_alterations
|
{
"id": 79722,
"name": "ANKRD55",
"pos": [
237,
7
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
94,
15
]
}
|
Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17=HDL4).
|
NA
|
{
"id": 6311,
"name": "ATXN2",
"pos": [
228,
4
]
}
|
{
"id": "C1846707",
"name": "SPINOCEREBELLAR ATAXIA 17",
"pos": [
303,
25
]
}
|
Early reports described an association between HNF1B mutations and maturity-onset diabetes of the young.
|
genomic_alterations
|
{
"id": 6928,
"name": "HNF1B",
"pos": [
47,
5
]
}
|
{
"id": "C0342276",
"name": "Maturity onset diabetes mellitus in young",
"pos": [
67,
36
]
}
|
Our findings indicate that age and smoking may modify the association of the FASLG -844 and IL1B + 3954 SNPs with the risk of NSCLC.
|
NA
|
{
"id": 3553,
"name": "IL1B",
"pos": [
92,
4
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
35,
7
]
}
|
When breast cancer cells mixed with hematopoietic cells were infected with the bcl-x(s) adenovirus, cancer cells were selectively killed by the suicide adenoviruses.
|
NA
|
{
"id": 598,
"name": "BCL2L1",
"pos": [
79,
5
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
88,
10
]
}
|
We performed mutation screenings of DAF and conducted a tag single-nucleotide polymorphisms (SNP) association analysis for 684 unrelated adult individuals with seasonal allergic rhinitis (SAR) with Japanese ceder pollen, 188 mite-sensitive adults with asthma, and 346 unrelated non-allergic healthy controls.
|
NA
|
{
"id": 1604,
"name": "CD55",
"pos": [
36,
3
]
}
|
{
"id": "C0004096",
"name": "Asthma",
"pos": [
252,
6
]
}
|
May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancers?
|
NA
|
{
"id": 324,
"name": "APC",
"pos": [
8,
8
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
95,
8
]
}
|
Since HGA is believed to have a higher risk of progression to invasive carcinoma than LGA, these data suggest that 8q gain is important for the malignant transformation of gastric adenoma.
|
NA
|
{
"id": 27165,
"name": "GLS2",
"pos": [
86,
3
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
71,
9
]
}
|
Interestingly, vitexin inhibited the hypoxia-induced activation of c-jun N-terminal kinase (JNK), but not of extracellular-signal regulated protein kinase (ERK), implying that it acts in part via the JNK pathway.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
156,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
37,
7
]
}
|
Our data suggest that among atopic subjects, the GSTM1 null genotype is associated with a decreased risk for asthma despite increased level of plasma GST activity in asthma, but it could not distinguish whether this increase is a potentially protective compensatory effect or a pathogenic factor.
|
NA
|
{
"id": 2944,
"name": "GSTM1",
"pos": [
49,
5
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
28,
6
]
}
|
DNA losses and mutation of the VHL gene, which are characteristic for conventional renal cell carcinomas, were seen in 2 of the tumors.
|
genomic_alterations
|
{
"id": 7428,
"name": "VHL",
"pos": [
31,
3
]
}
|
{
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
83,
21
]
}
|
Together, our data uncover an essential role of deregulated snoRNA biogenesis in tumors and a new mechanism of nucleolar modulation of p53.
|
biomarker
|
{
"id": 85390,
"name": "SNORD14D",
"pos": [
60,
6
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
81,
6
]
}
|
Our observations suggest that the level of ANG increased significantly in the rat brain after ischemia.
|
NA
|
{
"id": 283,
"name": "ANG",
"pos": [
43,
3
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
94,
8
]
}
|
Besides the recently identified MYB-NFIB fusion oncogene generated by a t(6;9) translocation, little is known about other genetic alterations in ACC.
|
NA
|
{
"id": 4781,
"name": "NFIB",
"pos": [
36,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
79,
13
]
}
|
This study indicates that chromosome aberrations in NK-cell lymphomas are restricted to the CD56+, CD3- and CD5- cell population and that NK-cell lymphomas are indeed derived from mature true NK cells and not from T lymphocytes.
|
NA
|
{
"id": 921,
"name": "CD5",
"pos": [
108,
3
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
26,
22
]
}
|
The differential roles of PAD2 and PAD4 in TLR-7-dependent lupus autoimmunity were examined.
|
biomarker
|
{
"id": 11240,
"name": "PADI2",
"pos": [
26,
4
]
}
|
{
"id": "C0024138",
"name": "Lupus Erythematosus, Discoid",
"pos": [
59,
5
]
}
|
beta-thalassemia is an inherited hemoglobinopathy caused by defective synthesis of the beta-globin chain of hemoglobin, leading to imbalanced globin chain synthesis.
|
NA
|
{
"id": 3043,
"name": "HBB",
"pos": [
87,
11
]
}
|
{
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
108,
10
]
}
|
These results suggest that SNPs of IL-28B and MRC-1 can be used as genetic markers for predicting the outcome of PEG-IFNα-RBV treatment of HCV infections.
|
NA
|
{
"id": 282617,
"name": "IFNL3",
"pos": [
35,
6
]
}
|
{
"id": "C3714514",
"name": "Infection",
"pos": [
143,
10
]
}
|
Both doses of losartan significantly lowered blood pressure, albuminuria, and GFR (P < 0.05 vs. baseline).
|
NA
|
{
"id": 9771,
"name": "RAPGEF5",
"pos": [
78,
3
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
45,
14
]
}
|
We report a patient with congenital myasthenic syndrome (CMS) due to mutation in CHRNE with symptoms since the age of 4; mild to moderate fatigable weakness involved mainly ocular, bulbar and limb muscles; functional impact of the disease in their development and physical activity was modest.
|
genomic_alterations
|
{
"id": 1145,
"name": "CHRNE",
"pos": [
81,
5
]
}
|
{
"id": "C0947912",
"name": "Myasthenias",
"pos": [
138,
18
]
}
|
Palmitoyl Protein Thioesterase 1 (PPT1) is an essential lysosomal protein in the mammalian nervous system whereby defects result in a fatal pediatric disease called Infantile Neuronal Ceroids Lipofuscinosis (INCL).
|
NA
|
{
"id": 5538,
"name": "PPT1",
"pos": [
34,
4
]
}
|
{
"id": "C0422837",
"name": "Neurological observations",
"pos": [
91,
14
]
}
|
Genome-wide association studies (GWASs) have unequivocally linked the CDKN2A/B locus, which encodes p16 inhibitor of cyclin-dependent kinase (p16(INK4A)) and three other gene products, p14 alternate reading frame (p14(ARF)), p15(INK4B) and antisense non-coding RNA in the INK4 locus (ANRIL), with human diabetes risk.
|
genomic_alterations
|
{
"id": 115482713,
"name": "H3P10",
"pos": [
100,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
303,
8
]
}
|
MET activating mutations are rarely found in other human tumors, whereas at higher frequencies, MET is amplified and/or overexpressed in sporadic tumors of specific histotypes, including osteosarcoma.
|
NA
|
{
"id": 4233,
"name": "MET",
"pos": [
96,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
137,
8
]
}
|
To review clinical and pathologic features and the long-term follow-up of patients with loose anagen hair (LAH).
|
NA
|
{
"id": 147409,
"name": "DSG4",
"pos": [
107,
3
]
}
|
{
"id": "C3554793",
"name": "Loose anagen hair",
"pos": [
88,
17
]
}
|
We investigated the methylation status of four methylated in tumour markers (MINTs 1,2,12 and 31), and the promoter regions of 5 genes hMLH1, HPP1, MGMT, p16INK4A and p14ARF, in 21 sporadic MSI-H colorectal cancers and compared these with 18 cancers from HNPCC patients.
|
NA
|
{
"id": 780897,
"name": "HPP1",
"pos": [
142,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
181,
8
]
}
|
Knockdown of MTDH expression in HCC cell lines resulted in downregulation of N-cadherin and snail, upregulation of E-cadherin, and translocation of β-catenin.
|
NA
|
{
"id": 1499,
"name": "CTNNB1",
"pos": [
148,
9
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
131,
13
]
}
|
In the present study, to link V2R-related molecules and inner ear hydrops, we examined V2R-linked water channel molecule, aquaporin-2 (AQP2) expression and translocation in human endolymphatic sac.
|
NA
|
{
"id": 359,
"name": "AQP2",
"pos": [
135,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
156,
13
]
}
|
All febrile episodes of bacteremia were caused by single Delftia acidovorans strain revealed by ERIC-PCR.
|
NA
|
{
"id": 104355217,
"name": "ERICD",
"pos": [
97,
4
]
}
|
{
"id": "C0004610",
"name": "Bacteremia",
"pos": [
25,
10
]
}
|
RT-PCR validation confirmed that two miRNAs, miR-497 in SZ samples and miR-29c in BD samples, have significantly increased expression when compared to control samples.
|
biomarker
|
{
"id": 574456,
"name": "MIR497",
"pos": [
45,
7
]
}
|
{
"id": "C0005586",
"name": "Bipolar Disorder",
"pos": [
82,
2
]
}
|
Prolyl hydroxylase PHD3 enhances the hypoxic survival and G1 to S transition of carcinoma cells.
|
NA
|
{
"id": 112399,
"name": "EGLN3",
"pos": [
19,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
37,
7
]
}
|
PON-1 Q192R, C-107T and L55M genotype, alcohol consumption, smoking and HDL levels are determinants of serum PON-1 phenotype.
|
NA
|
{
"id": 5444,
"name": "PON1",
"pos": [
109,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
60,
7
]
}
|
PDK4 silencing on CCl(4)-induced liver injury accelerated necrotic tissue recovery and increased γH2AX foci and micronucleus formation, indicating the essential role of PDK4 in DNA repair and checkpoint activation.
|
NA
|
{
"id": 5166,
"name": "PDK4",
"pos": [
169,
4
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
58,
8
]
}
|
Recent desmosomal genodermatoses described include lethal congenital epidermolysis bullosa (plakoglobin), cardiomyopathy with alopecia and palmoplantar keratoderma (plakoglobin), hypotrichosis with scalp vesicles (desmocollin 3), and generalized peeling skin disease (corneodesmosin).
|
genomic_alterations
|
{
"id": 1825,
"name": "DSC3",
"pos": [
214,
13
]
}
|
{
"id": "C4551675",
"name": "Keratoderma, Palmoplantar",
"pos": [
139,
24
]
}
|
A luciferase assay was performed to determine the key miR-136 targets associated with OS.
|
biomarker
|
{
"id": 406927,
"name": "MIR136",
"pos": [
54,
7
]
}
|
{
"id": "C0029463",
"name": "Osteosarcoma",
"pos": [
86,
2
]
}
|
To determine whether glial cell line-derived neurotrophic factor (GDNF) influences the expression of integrins in pancreatic cancer cell lines and to elucidate the mechanisms of adhesion and invasion to extracellular matrix (ECM) proteins.
|
NA
|
{
"id": 22915,
"name": "MMRN1",
"pos": [
225,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
178,
8
]
}
|
CX-4945 increased the translocation of EGFR from the cell surface into the autophagosome, subsequently leading to the decrease of EGFR while inhibition of autophagy by 3MA or Atg7-targeted siRNA pretreatment reduced the decrease of EGFR by CX-4945.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
232,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
22,
13
]
}
|
No abnormalities developed in rats which received Ad2CMV-gp100 or Ad2CMV-LacZ alone.
|
NA
|
{
"id": 6490,
"name": "PMEL",
"pos": [
57,
5
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
3,
13
]
}
|
To identify molecular alterations driving clinical acquired resistance, we performed whole-exome sequencing on paired pretreatment and postprogression tumor biopsies from patients with BRAF-mutant colorectal cancer treated with RAF inhibitor combinations.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
185,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
151,
5
]
}
|
To more precisely map this putative liver tumor suppressor locus, we examined 25 loci from human chromosome 11 in suppressed MCH cell lines.
|
NA
|
{
"id": 5367,
"name": "PMCH",
"pos": [
125,
3
]
}
|
{
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
36,
11
]
}
|
To this end, we have used the inhibition of the poly(ADP-ribose) polymerase (ADPRP) by 3-aminobenzamide (3ABA) and studied the effect of 3ABA on the frequency of DNA strand breaks and chromosome aberrations.
|
NA
|
{
"id": 142,
"name": "PARP1",
"pos": [
48,
27
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
184,
22
]
}
|
Here, we report that etoposide induced 2.4 (EI24) has a multifaceted role against tumor progression that is regulated by both EMT and inflammation.
|
NA
|
{
"id": 9538,
"name": "EI24",
"pos": [
44,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
134,
12
]
}
|
Transgenic simulation of human heart failure-like L-type Ca2+-channels: implications for fibrosis and heart rate in mice.
|
NA
|
{
"id": 760,
"name": "CA2",
"pos": [
57,
3
]
}
|
{
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
31,
13
]
}
|
ADORA/rs903361, CADM2/rs13078807, GNPDA2/rs10938397, VEGFA/rs6905288 and FTO/rs9939609 are associated with an increased risk of pediatric-onset type 2 diabetes in the Mexican population.
|
genomic_alterations
|
{
"id": 79068,
"name": "FTO",
"pos": [
73,
3
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
144,
15
]
}
|
We describe an AML patient showing the chromosomal abnormality t(8;21) and CD56 expression who experienced a unique EM relapse after allo-HSCT.
|
NA
|
{
"id": 4684,
"name": "NCAM1",
"pos": [
75,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
39,
23
]
}
|
We therefore conclude that translocation of TMPRSS2-ERG is not associated with outcome, and the aggressive clinical features associated with CNI of chromosome 21 reflect generalized aneuploidy and are not due to CNI specifically of rearranged TMPRSS2-ERG.
|
NA
|
{
"id": 2078,
"name": "ERG",
"pos": [
251,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
27,
13
]
}
|
To evaluate the influence of the time of infection to the development of fibrosis and its effect on the genetic factor HPA-1, 96 patients from 143 studied were evaluated considering the time of HCV infection, and these results suggest that the HPA-1a/1b genotype promotes the development of fibrosis in HCV infection with time.
|
genomic_alterations
|
{
"id": 10855,
"name": "HPSE",
"pos": [
119,
5
]
}
|
{
"id": "C0019196",
"name": "Hepatitis C",
"pos": [
303,
13
]
}
|
Dramatic etanercept-induced remission of relapsing febrile sciatic neuralgia related to p46l mutation of the tnfrsf1a gene.
|
NA
|
{
"id": 7132,
"name": "TNFRSF1A",
"pos": [
109,
13
]
}
|
{
"id": "C0036396",
"name": "Sciatica",
"pos": [
59,
17
]
}
|
Card9 expression in SAP patients was higher than that in mild acute pancreatitis and volunteer healthy controls, up to the peak on day 1.
|
NA
|
{
"id": 64170,
"name": "CARD9",
"pos": [
0,
5
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
57,
4
]
}
|
In contrast, other markers of inflammation and glucose metabolism including adipose macrophage inflammatory factor, macrophage inflammatory protein-2, and liver pyruvate carboxylase and pyruvate dehydrogenase kinase 4 were not significantly changed.
|
NA
|
{
"id": 5166,
"name": "PDK4",
"pos": [
186,
31
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
30,
12
]
}
|
The von Hippel-Lindau tumor suppressor pVHL regulates the stability of hypoxia-inducible factors (HIF)-1 and -2, oxygen-sensitive basic helix-loop-helix transcription factors, which mediate the hypoxic induction of angiogenic growth factors such as vascular endothelial growth factor.
|
NA
|
{
"id": 7428,
"name": "VHL",
"pos": [
4,
34
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
194,
7
]
}
|
Flii(+/-) blistered skin showed reduced α-SMA, TGF-β1, and Smad 2/3 expression, suggesting that decreasing Flii may affect fibrosis.
|
NA
|
{
"id": 2314,
"name": "FLII",
"pos": [
107,
4
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
123,
8
]
}
|
Induction of reactive oxygen species renders mutant and wild-type K-ras pancreatic carcinoma cells susceptible to Ad.mda-7-induced apoptosis.
|
therapeutic
|
{
"id": 11009,
"name": "IL24",
"pos": [
117,
5
]
}
|
{
"id": "C0030297",
"name": "Pancreatic Neoplasm",
"pos": [
72,
20
]
}
|
Increased IDO1 expression and activity in K14E7 skin requires IFN-γ and invariant natural killer T (iNKT) cells, both of which have been shown to negatively regulate T-cell effector function and suppress K14E7 graft rejection.
|
NA
|
{
"id": 3620,
"name": "IDO1",
"pos": [
10,
4
]
}
|
{
"id": "C0018129",
"name": "Graft Rejection",
"pos": [
210,
15
]
}
|
The I/D polymorphism of the ACE gene does not appear to contribute to the biochemical and phenotypic characteristic of APA, however, the deletion of the insertion allele of the ACE gene I/D polymorphism in 16% of aldosterone-producing adenomas may represent the loss of a tumour suppressor gene/s or other genes on chromosome 17q which may contribute to tumorigenesis in APA.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
177,
8
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
354,
13
]
}
|
The effects of exercise on depressive symptoms appear to be moderated by 5-HTTLPR genotype, suggesting that the mechanisms responsible for the alleviation of depressive symptoms are similar for exercise and SSRI treatment.
|
genomic_alterations
|
{
"id": 6532,
"name": "SLC6A4",
"pos": [
73,
8
]
}
|
{
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
27,
19
]
}
|
Phosphorylated histone H2AX (γ-H2AX) and p53-binding protein-1 (53BP1) foci, as well as Chk1/2 phosphorylation, were apparently suppressed, although ataxia telangiectasia mutated (ATM) kinase activation was apparently unaffected.
|
NA
|
{
"id": 1111,
"name": "CHEK1",
"pos": [
88,
4
]
}
|
{
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
156,
14
]
}
|
We hypothesized that polymorphisms in calcium-related genes CACNA1E and Camk2d contribute to the individual variability in seizure susceptibility.
|
NA
|
{
"id": 817,
"name": "CAMK2D",
"pos": [
72,
6
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
123,
7
]
}
|
Resveratrol-mediated apoptosis in renal cell carcinoma via the p53/AMP‑activated protein kinase/mammalian target of rapamycin autophagy signaling pathway.
|
biomarker
|
{
"id": 353,
"name": "APRT",
"pos": [
67,
3
]
}
|
{
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
34,
20
]
}
|
Recent studies have shown that 7% to 12% of endometrial cancers are ultramutated due to somatic mutation in the proofreading exonuclease domain of the DNA replicase POLE.
|
NA
|
{
"id": 5426,
"name": "POLE",
"pos": [
165,
4
]
}
|
{
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
88,
16
]
}
|
In order to assess the effects of resveratrol, progesterone, oestradiol (E2), an anti-testosterone (cyproterone acetate; CPA), a selective ER modulator (tamoxifen; TMX) and ERα/ERβ agonists (propyl pyrazole triol (PPT), diarylpropionitrile (DPN)) on oxidative brain damage and memory impairment due to epileptic seizure, male Wistar rats (n = 120) received one of the treatment choices either in drinking water or intraperitoneally for 31 days, and epileptic seizure was induced on the 28th day by injection of a single-dose of pentylenetetrazole (45 mg kg<sup>-1</sup> ).
|
biomarker
|
{
"id": 81542,
"name": "TMX1",
"pos": [
164,
3
]
}
|
{
"id": "C0542476",
"name": "Forgetful",
"pos": [
277,
17
]
}
|
To date, few disease-causing mutations of VSX1 have been linked to familial and sporadic keratoconus (KC) in humans.
|
NA
|
{
"id": 30813,
"name": "VSX1",
"pos": [
42,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
80,
8
]
}
|
To provide an overview of the prothrombin 20210A mutation, its effects on the incidence of venous thromboembolism (VTE) in users of oral contraceptive therapy (OCT), and screening recommendations for the primary care practice setting.
|
NA
|
{
"id": 5362,
"name": "PLXNA2",
"pos": [
160,
3
]
}
|
{
"id": "C1861172",
"name": "Venous Thromboembolism",
"pos": [
91,
22
]
}
|
In a large prospective cohort with 821 incident cases of type 2 diabetes, we examined interactions of physical activity with: (1) each of 65 type 2 diabetes-associated single nucleotide polymorphisms (SNPs); (2) a genetic risk score (GRS) comprising all 65 SNPs; (3) two GRSs comprised of SNPs implicated in insulin resistance (IR) and insulin secretion; (4) GRSs for fasting insulin (FI) and fasting glucose.
|
NA
|
{
"id": 597,
"name": "BCL2A1",
"pos": [
234,
3
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
308,
18
]
}
|
Our results suggest that Ang-1 can serve as a valuable prognostic biomarker for lymph node metastasis and invasiveness in patients with PTC.
|
biomarker
|
{
"id": 284,
"name": "ANGPT1",
"pos": [
25,
5
]
}
|
{
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
136,
3
]
}
|
This was judged from the lack of appearance of three different B cell differentiation markers; cytoplasmic immunoglobulin heavy chain and two antigens recognized by the monoclonal antibodies B1 (CD20) and HH1 (CD37).
|
biomarker
|
{
"id": 931,
"name": "MS4A1",
"pos": [
195,
4
]
}
|
{
"id": "C1563719",
"name": "Kallmann Syndrome 1",
"pos": [
210,
4
]
}
|
Patients with unilateral or bilateral RB infrequently may develop an additional intracranial neuroblastic tumor, usually in the pineal gland, which characterizes the trilateral retinoblastoma (TRB) syndrome.
|
NA
|
{
"id": 6957,
"name": "TRB",
"pos": [
194,
3
]
}
|
{
"id": "C2608045",
"name": "Trilateral Retinoblastoma",
"pos": [
167,
25
]
}
|
These cell lines use IGHV and IGLV genes that are known to be preferentially rearranged in mantle cell lymphoma, but we found no evidence of heavy chain stereotypy.
|
NA
|
{
"id": 6520,
"name": "SLC3A2",
"pos": [
141,
11
]
}
|
{
"id": "C0038271",
"name": "Stereotyped Behavior",
"pos": [
153,
10
]
}
|
We tested the hypothesis that variations in serotonergic genes (TPH2, TPH1, SLC6A4, HTR1A), which influence serotonin availability, affect choice behavior in a probabilistic gambling task.
|
NA
|
{
"id": 3350,
"name": "HTR1A",
"pos": [
84,
5
]
}
|
{
"id": "C0016995",
"name": "Gambling",
"pos": [
174,
8
]
}
|
When fed a high-fat diet, PPIA-/- mice gained significantly less weight than wild type, accompanied by reduced PPARG, C/EBPA, and C/EBPB expression.
|
NA
|
{
"id": 5468,
"name": "PPARG",
"pos": [
111,
5
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
65,
6
]
}
|
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