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|---|---|---|---|
The population was divided into two groups: noninsulin resistance (NIR) and insulin resistance (IR). | NA | {
"id": 26155,
"name": "NOC2L",
"pos": [
67,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
76,
18
]
} |
These results indicate that combination of cathepsin E and doxorubicin is sufficient to overcome resistance to TRAIL-mediated apoptosis in chemoresistant prostate cancer PPC-1 cells, thus indicating therapeutic potential for clinical use. | biomarker | {
"id": 1510,
"name": "CTSE",
"pos": [
43,
11
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
154,
15
]
} |
The natural cofactor of human PAH, (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin (BH(4)), has already been approved for oral treatment of HPA, giving a positive response in mild forms of the disease showing considerable residual enzymatic activity. | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
135,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
170,
4
]
} |
Using data from a large study of colon cancer, we examine genetic variants in insulin, inflammation, estrogen, metabolizing enzymes, and energy homeostasis genes to explore associations with microsatellite instability (MSI), CpG Island methylator phenotype (CIMP), mutations of p53 in exons 5 through 8, and mutations in codons 12 and 13 of Ki-ras. | NA | {
"id": 3845,
"name": "KRAS",
"pos": [
341,
6
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
191,
26
]
} |
In a previous study we identified a relatively homogeneous subtype of schizophrenia characterized by pervasive cognitive deficit, which was the exclusive contributor to our findings of linkage to 6p25-p24. | NA | {
"id": 928,
"name": "CD9",
"pos": [
201,
3
]
} | {
"id": "C0009241",
"name": "Cognition Disorders",
"pos": [
111,
17
]
} |
We determined the expression and function of B cell translocation gene 1 (BTG1) in thyroid carcinoma. | NA | {
"id": 694,
"name": "BTG1",
"pos": [
74,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
52,
13
]
} |
Expression of adhesion molecules CD11/CD18 (Leu-CAMs, beta 2-integrins), CD54 (ICAM-1) and CD58 (LFA-3) in B-chronic lymphocytic leukemia. | NA | {
"id": 3383,
"name": "ICAM1",
"pos": [
73,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
14,
8
]
} |
Retained binding-avidity of epirubicin-(C(3)-amide)-[anti-HER2/neu] was validated by cell-ELISA utilizing monolayer populations of chemotherapeutic-resistant mammary adenocarcinoma SKBr-3 which highly overexpress membrane-associated HER2/neu complexes. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
233,
8
]
} | {
"id": "C3669246",
"name": "Mammary adenocarcinoma",
"pos": [
158,
22
]
} |
This study aimed to investigate the role of RDM1 in the progression of non‑small cell lung cancer (NSCLC). | biomarker | {
"id": 201299,
"name": "RDM1",
"pos": [
44,
4
]
} | {
"id": "C1737250",
"name": "Progression of non-small cell lung cancer",
"pos": [
56,
41
]
} |
On the other hand, as shown for chronic lymphocytic choriomeningitis virus infection in the mouse, CD8+ T cells may not only hinder the elimination of a virus, but make the host unresponsive to a second viral infection. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
99,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
203,
15
]
} |
In this study, we uncovered that hypoxia could induce the upregulation of Rab11-family interacting protein 4 (Rab11-FIP4) and activation of Rab11-FIP4 promoter by HIF-1α. | NA | {
"id": 84440,
"name": "RAB11FIP4",
"pos": [
140,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
33,
7
]
} |
However, no significant differences were found in TPH1 C allele and CC homozygote frequencies between the undifferentiated somatoform disorder patients and the healthy subjects. | NA | {
"id": 7166,
"name": "TPH1",
"pos": [
50,
4
]
} | {
"id": "C0037650",
"name": "Somatoform Disorder",
"pos": [
123,
19
]
} |
We compared the proteomes of paired primary and recurrent post-chemotherapy ovarian high-grade serous carcinomas from nine ovarian cancer patients using CIEF/Nano-RPLC coupled with ESI-Tandem MS. As compared to their primary tumors, more than half of the recurrent tumors expressed higher levels of several proteins including CP, FN1, SYK, CD97, AIF1, WNK1, SERPINA3, APOD, URP2, STAT5B and RELA (NF-kappaB p65), which were also validated by quantitative RT-PCR. | NA | {
"id": 12,
"name": "SERPINA3",
"pos": [
358,
8
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
102,
10
]
} |
A 61-year-old woman with a 5-year history of progressive muscle weakness and atrophy had a muscle biopsy characterized by a combination of dystrophic features (necrotic fibers and endomysial fibrosis) and mitochondrial alterations [ragged-red, cytochrome c oxidase (COX)-negative fibers]. | NA | {
"id": 1351,
"name": "COX8A",
"pos": [
266,
3
]
} | {
"id": "C0240421",
"name": "Progressive muscle weakness",
"pos": [
45,
27
]
} |
Cellular adaptation to hypoxic microenvironment is essential for tumor progression and is largely mediated by hypoxia-inducible factor-1α (HIF-1α) through coordinated regulation of hypoxia-responsive genes. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
139,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
181,
7
]
} |
Loss of p14(ARF) confers resistance to heat shock- and oxidative stress-mediated cell death by upregulating β-catenin. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
108,
9
]
} | {
"id": "C0036974",
"name": "Shock",
"pos": [
44,
5
]
} |
IHC analysis for vill expression was next applied to a large series of anaplastic astrocytomas (AAs) and glioblastoma multiforme (GBMs) from clinical trial patients with complete follow-up and that had been previously examined by FISH for amplified EGFR. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
230,
4
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
105,
23
]
} |
Loss of integrin alpha(v)beta6-mediated TGF-beta activation causes Mmp12-dependent emphysema. | therapeutic | {
"id": 7040,
"name": "TGFB1",
"pos": [
39,
8
]
} | {
"id": "C0034067",
"name": "Pulmonary Emphysema",
"pos": [
83,
9
]
} |
Flow cytometric measurement of the S-phase fraction (FCM-S) may be clinically useful in human cancers to identify high-risk patients. | biomarker | {
"id": 8996,
"name": "NOL3",
"pos": [
53,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
94,
7
]
} |
Together, these results demonstrate that PD-L1 can promote the growth and metastasis of cervical cancer by activating the ITGB4/SNAI1/SIRT3 signaling pathway, and also suggest the possibility of targeting PD-L1 and its downstream effectors as a potential approach for interfering with cervical cancer growth and metastasis. | biomarker | {
"id": 6615,
"name": "SNAI1",
"pos": [
128,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
312,
10
]
} |
Recent studies evaluating anti-IL-4 receptor α antibodies and calcium channel blockers have demonstrated promising early results during management of CRS. | biomarker | {
"id": 3565,
"name": "IL4",
"pos": [
31,
4
]
} | {
"id": "C0010278",
"name": "Craniosynostosis",
"pos": [
150,
3
]
} |
Hepatocellular adenomas with HNF1A mutation or adenomatosis with loss of LFABP warrant thorough sampling and examination. | genomic_alterations | {
"id": 6927,
"name": "HNF1A",
"pos": [
29,
5
]
} | {
"id": "C0206669",
"name": "Hepatocellular Adenoma",
"pos": [
0,
23
]
} |
A total of 33 and 60 haplotype "tag" SNPs (tagSNPs) that allowed for high predictability (Rh2 > or = 0.70) of the common haplotypes in PRL and PRLR, respectively, were then genotyped in a multiethnic breast cancer case-control study of 1,615 invasive breast cancer cases and 1,962 controls in the MEC. | NA | {
"id": 6005,
"name": "RHAG",
"pos": [
90,
3
]
} | {
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
242,
22
]
} |
Drawing on the life course perspective, we predicted a stronger association between the polymorphisms in 5HTT, DAT1, DRD4, DRD2, and MAOA and alcohol consumption in young adulthood than adolescence. | NA | {
"id": 1813,
"name": "DRD2",
"pos": [
123,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
142,
19
]
} |
A recombinant adenovirus expressing the RAP protein induced the expression of both the C/EBPalpha and p21 proteins in primary human fibroblasts, and flow cytometric analysis revealed a dramatic inhibition of G(1) to S cell cycle progression in the same cells. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
102,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
14,
10
]
} |
Autoantibodies have defined two paraneoplastic visual disorders related to small-cell lung carcinoma: retinopathy ("CAR"-IgG [23kDa, recoverin]) and optic neuritis collapsin response-mediated protein 5 (CRMP-5-IgG [62kDa]). | NA | {
"id": 56896,
"name": "DPYSL5",
"pos": [
203,
6
]
} | {
"id": "C0035309",
"name": "Retinal Diseases",
"pos": [
102,
11
]
} |
Sixteen of the 143 (11.1%) KT recipients had sustained severe anemia (SSA) with hemoglobin lower than 7.0 g/dl, after 4 weeks post-transplant. | NA | {
"id": 811,
"name": "CALR",
"pos": [
70,
3
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
80,
10
]
} |
TP53 mutation in the tumor was associated with squamous cell histology and CDKN2A methylation was associated with older age (≥60 years), heavy smoking (>30 pack-years), squamous cell histology and advanced stage (stage II-IV). | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
75,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
21,
5
]
} |
These results support further investigation of NPY, LEP, and LEPR to identify genetic variation that may influence obesity status, glucose and lipid metabolism, and blood pressure in Mexican Americans. | NA | {
"id": 3952,
"name": "LEP",
"pos": [
52,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
165,
14
]
} |
These results suggest that TIMP1 functions as a differentiating and survival factor of GC B cells by modulating CD44 and SHP1 in the late centrocyte/post-GC stage, regardless of EBV infection. | biomarker | {
"id": 7076,
"name": "TIMP1",
"pos": [
27,
5
]
} | {
"id": "C0149678",
"name": "Epstein-Barr Virus Infections",
"pos": [
178,
13
]
} |
We characterized 53BP1 and BRCA1 expression and their association with clinical outcomes in sporadic and inherited ovarian carcinomas. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
27,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
92,
8
]
} |
We determined that expression of Mll-Ell in myeloid progenitor cells resulted in autocrine production of Fgf2 and Fgf2-dependent cytokine hypersensitivity. | NA | {
"id": 2258,
"name": "FGF13",
"pos": [
114,
4
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
138,
16
]
} |
The amount of Securin is strongly regulated because it should allow Separase activation when it is degraded by the anaphase promoting complex/cyclosome, should arrest the cell cycle after DNA damage, when it is degraded through SKP1-CUL1-βTrCP ubiquitin ligase, and its overexpression induces tumour formation and correlates with metastasis in multiple tumours. | NA | {
"id": 8945,
"name": "BTRC",
"pos": [
238,
5
]
} | {
"id": "C0260037",
"name": "Multiple tumors",
"pos": [
344,
16
]
} |
We examined a total of 107 Chinese sporadic HSCR patients and 89 ethnically matched controls by sequencing the 3'UTR of the RET gene. | NA | {
"id": 5979,
"name": "RET",
"pos": [
124,
8
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
35,
8
]
} |
Finally, different SNPs in LSP1 and H19 and in minor genes probably were associated with BC risk. | genomic_alterations | {
"id": 4046,
"name": "LSP1",
"pos": [
27,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
89,
2
]
} |
Here, we investigated the mechanisms by which aldose reductase (AR) regulates the mucus cell metaplasia in vitro and in vivo. | NA | {
"id": 231,
"name": "AKR1B1",
"pos": [
46,
16
]
} | {
"id": "C0025568",
"name": "Metaplasia",
"pos": [
93,
10
]
} |
In region 1q21, four hybridization patterns were observed, the first involving duplication/translocation of all five genes; the second involving duplication/translocation of BCL9, AF1Q, JTB, and MUC1; the third involving duplication/translocation of AF1Q, JTB, and MUC1; and the fourth with a breakpoint telomeric to MUC1. | NA | {
"id": 10962,
"name": "MLLT11",
"pos": [
250,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
233,
13
]
} |
However, the study of GPER KO mice over the last six years has revealed that GPER deficiency results in multiple physiological alterations including obesity, cardiovascular dysfunction, insulin resistance and glucose intolerance. | NA | {
"id": 2852,
"name": "GPER1",
"pos": [
77,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
186,
18
]
} |
Thus our findings suggest that BRAF (V600E) is a prevalent genetic alteration in adult sporadic PTCs in Indian cohort and it may be responsible for the progression of classic variant of PTC to metastatic and poorly differentiated subtype and likely to have significant impact on its diagnostic and prognostic management. | NA | {
"id": 673,
"name": "BRAF",
"pos": [
31,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
87,
8
]
} |
CRP levels are associated with blood pressure, pulse pressure, and hypertension, but adjustment for life course confounding and a Mendelian randomization approach suggest the elevated CRP levels do not lead to elevated blood pressure. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
0,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
31,
14
]
} |
Two novel heterozygous mutations were detected: a heterozygous mutation in exon 4 of the TUBA1A gene (c.1160C>T) in a 5-year-old female with microcephaly, severe intellectual disability, and absence of language, and a c.1080 _1084del CCTGAinsACATCTTC in exon 4 of the TUBB2B gene in a 31-year-old female with microcephaly, spastic tetraparesis, severe intellectual disability, and scoliosis. | genomic_alterations | {
"id": 7846,
"name": "TUBA1A",
"pos": [
89,
6
]
} | {
"id": "C0036439",
"name": "Scoliosis, unspecified",
"pos": [
384,
9
]
} |
Hepatitis B virus X protein induces the expression of MTA1 and HDAC1, which enhances hypoxia signaling in hepatocellular carcinoma cells. | NA | {
"id": 9112,
"name": "MTA1",
"pos": [
54,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
85,
7
]
} |
Two copies of chromosome 18 were found in 9 of 11 samples studied by FISH: one case had a subpopulation of cells with monosomy 18 and one had trisomy 18. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
69,
4
]
} | {
"id": "C4317091",
"name": "Trisomy 18 Syndrome",
"pos": [
142,
10
]
} |
To identify nutritional, endocrine and genetic factors related to calcium and vitamin D metabolism that are associated with OSM/rickets in females. | NA | {
"id": 83605,
"name": "CCM2",
"pos": [
124,
3
]
} | {
"id": "C0035579",
"name": "Rickets",
"pos": [
128,
7
]
} |
In exercised overweight/obese individuals, expression of genes for three anti-inflammatory macrophage markers, MGL (p = 0.0031, ρ = 0.71), CD163 (p = 0.0268, ρ = 0.57) and mannose receptor (p = 0.0125, ρ = 0.63), correlated with high glucose-disposal rate. | NA | {
"id": 10462,
"name": "CLEC10A",
"pos": [
111,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
24,
5
]
} |
Induction of glucose-regulated protein 78 by chronic hypoxia in human gastric tumor cells through a protein kinase C-epsilon/ERK/AP-1 signaling cascade. | NA | {
"id": 2048,
"name": "EPHB2",
"pos": [
125,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
53,
7
]
} |
Association of MLH1 single nucleotide polymorphisms with clinical outcomes of first-line irinotecan-based chemotherapy in colorectal cancer. | genomic_alterations | {
"id": 4292,
"name": "MLH1",
"pos": [
15,
4
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
122,
17
]
} |
The most significant association with breast cancer risk in the SBCS dataset was the XRCC2 rs3218408 SNP (recessive model p=2.3×10(-4), minor allele frequency (MAF)=0.23). | NA | {
"id": 4094,
"name": "MAF",
"pos": [
160,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
38,
13
]
} |
After six weeks of treatment, serum aspartate transaminase (AST) and alanine transaminase (ALT) assay, liver tissue histological assessment and hepatic hydroxyproline assay were respectively carried out to examine the effects of DWYG on liver function and fibrosis degree. | NA | {
"id": 2805,
"name": "GOT1",
"pos": [
60,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
256,
8
]
} |
A randomized, double-blind, parallel-group, inpatient study was conducted in 50 subjects given oral neratinib either 240 mg QD or 120 mg BID with food for ≤14 days. | NA | {
"id": 637,
"name": "BID",
"pos": [
137,
3
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
21,
5
]
} |
Hence, restoring function to mutant p53 represents an attractive target to develop a novel cancer chemotherapeutic agent. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
36,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
91,
6
]
} |
Recent studies have demonstrated that in addition to abnormalities in the NKCC2 and ROMK1 genes, mutations at a third genetic locus can also cause Bartter's syndrome. | NA | {
"id": 6557,
"name": "SLC12A1",
"pos": [
74,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
53,
13
]
} |
The composite karyotype of a large cell metastasis was 45~46,XY,add(1)(p36.1),t(2;8)(p21;q24.1),add(3)(q25),t(9;15)(q22;q13),add(12)(p11.2), +1approximately2mar,inc[cp12]/46,XY[12], while the rhabdoid metastasis contained additional changes including monosomy 22. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
133,
3
]
} | {
"id": "C0795878",
"name": "Monosomy 22",
"pos": [
251,
11
]
} |
The HT-1080 fibrosarcoma cells do not express endosialin, A-673 Ewing sarcoma cells and SK-N-AS neuroblastoma cells are moderate expressers of endosialin, and SJSA-1 osteosarcoma cells express very high levels of endosialin. | NA | {
"id": 57124,
"name": "CD248",
"pos": [
213,
10
]
} | {
"id": "C0016057",
"name": "Fibrosarcoma",
"pos": [
12,
12
]
} |
Our results suggest that ACE I/D and daily salt intake constitute a gene-environment interaction, which may be further modulated by overweight. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
25,
3
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
132,
10
]
} |
Because of their likely functional significance for melanoma progression, FAS, CH25H, BMPR1A, ACTA2, and TFG were investigated in a larger cohort of melanomas through sequencing. | NA | {
"id": 657,
"name": "BMPR1A",
"pos": [
86,
6
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
52,
8
]
} |
The results of the immunoblot and transient gene expression assays indicated that induction of the PSA expression by hypoxia is both HIF-1α- and AR-dependent. | NA | {
"id": 354,
"name": "KLK3",
"pos": [
99,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
117,
7
]
} |
Our data implicate a role of BCCIP in astrocytic tumorigenesis, and lack of BCCIP may be used as a marker for astrocytomas. | NA | {
"id": 56647,
"name": "BCCIP",
"pos": [
76,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
49,
13
]
} |
Furthermore, a decreased expression of CDX2 was closely linked to MSI, CIMP-high as well as BRAF mutated tumors. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
92,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
105,
6
]
} |
Genome-wide association studies have recently identified several clinically important host determinants of the outcomes of peginterferon-α and ribavirin treatment outcome: IL28B polymorphism is associated with spontaneous clearance and treatment responsiveness; ITPA polymorphism protects against ribavirin-induced anaemia and dose reductions; genetic determinants of liver fibrosis progression rate have been proposed. | genomic_alterations | {
"id": 282617,
"name": "IFNL3",
"pos": [
172,
5
]
} | {
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
368,
14
]
} |
Here, I review the evidence and potential mechanisms for cortactin as a critical mediator of tumor cell invasion. | biomarker | {
"id": 2017,
"name": "CTTN",
"pos": [
57,
9
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
93,
19
]
} |
This study also supports our and others' previous reports of association of the GAL SNP rs694066 and the AVPR1A SNPs rs11174811, rs1587097 and rs10784339 with heroin and general drug addiction, respectively. | NA | {
"id": 552,
"name": "AVPR1A",
"pos": [
105,
6
]
} | {
"id": "C1510472",
"name": "Drug Dependence",
"pos": [
178,
14
]
} |
Synergistic effect between apolipoprotein E and apolipoprotein A1 gene polymorphisms in the risk for coronary artery disease. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
27,
16
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
101,
23
]
} |
Serological HLA studies have shown susceptibility to type 1 diabetes is linked to HLA DR3 and DR4 allels, whereas DR2 and DR5 alleles contain protective elements. | NA | {
"id": 8797,
"name": "TNFRSF10A",
"pos": [
94,
3
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
53,
15
]
} |
The involvement of IL-6 in plasma cell abnormalities was further demonstrated by the generation of a lethal plasma cell growth in IL-6 transgenic mice. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
130,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
39,
13
]
} |
She showed excellent clinical and neurophysiological improvement of both myoclonus and dystonia, suggesting that modulation by DBS is effective even after long disease duration and only partial response to oral medications. | NA | {
"id": 4036,
"name": "LRP2",
"pos": [
127,
3
]
} | {
"id": "C0027066",
"name": "Myoclonus",
"pos": [
73,
9
]
} |
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. | genomic_alterations | {
"id": 93166,
"name": "PRDM6",
"pos": [
34,
5
]
} | {
"id": "C3495549",
"name": "Patent ductus arteriosus - persisting type",
"pos": [
82,
24
]
} |
Importantly, extensive hypomethylation of Sat2 DNA in chromosome 1 was a highly significant marker of poor prognosis (relative risk for relapse, 4.1, and death, 9.4) and more informative than tumor grade or stage. | biomarker | {
"id": 112483,
"name": "SAT2",
"pos": [
42,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
192,
5
]
} |
Modulation of serum adiponectin might be involved in mediating the susceptibility to steatosis, NASH, and hepatocellular carcinoma in carriers of the 148 M PNPLA3 variant without CHC, with potential therapeutic implications. | genomic_alterations | {
"id": 80339,
"name": "PNPLA3",
"pos": [
156,
6
]
} | {
"id": "C1861453",
"name": "Pseudohyperkalemia Cardiff",
"pos": [
179,
3
]
} |
In parallel, much lower levels of D2 receptor mRNAs were found in growth hormone-secreting adenomas, with a D2S/D2L ratio comparable to those of both normal human pituitary and bromocriptine-sensitive prolactinomas (1.05 +/- 0.11). | genomic_alterations | {
"id": 2688,
"name": "GH1",
"pos": [
66,
14
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
91,
8
]
} |
In the present study, we investigated the effect of hypoxia on the Acanthamoeba-induced production of inflammatory mediators interleukin-8 (IL-8) and interferon-β (IFN-β) in human corneal epithelial cells and then evaluated its effects on the Toll-like receptor 4 (TLR4) signaling, including TLR4 and myeloid differentiation primary response gene (88) (MyD88) expression as well as the activation of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) and extracellular signal-regulated kinases 1/2 (ERK1/2). | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
140,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
52,
7
]
} |
The proviral load was significantly higher in HAM/TSP patients than in asymptomatic subjects. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
50,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
71,
12
]
} |
In human melanomas, MRDI localization correlated with stage, showing nuclear localization in nevi and early stage tumors and cytoplasmic localization with plasma membrane accentuation in late stage tumors. | NA | {
"id": 84245,
"name": "MRI1",
"pos": [
20,
4
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
93,
4
]
} |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia). | genomic_alterations | {
"id": 3483,
"name": "IGFALS",
"pos": [
54,
3
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
221,
26
]
} |
A set of 77 single-nucleotide polymorphisms (SNPs) in 10 candidate genes involved in the TGFβ signaling pathway and several environmental factors including sex, age, smoking and drinking were examined by random forest (RF) to capture the potential gene-gene and gene-environment interactions in stage 1 of the study with 443 CRC patients and 480 controls. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
89,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
178,
8
]
} |
We examined the association between 36 genotyped and 193 imputed SNPs within four lipid-lowering drug target genes (HMGCR, PPARA, HM74A/GPR109A and CETP) and four non-lipid drug target genes (ACE, AGTR1, P2RY12, and ATP4B) and lipid phenotypes, blood pressure, and coronary artery disease in 5635 adult participants of the Lausanne, Switzerland, CoLaus study, genotyped using the Affymetrix 500K SNP chip technology. | NA | {
"id": 64805,
"name": "P2RY12",
"pos": [
204,
6
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
245,
14
]
} |
Upregulation of cyclin D1/B-cell leukemia/lymphoma 1 (CCND1/BCL1) is present in most mantle cell lymphomas with the t(11;14)(q13;q32) translocation. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
60,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
134,
13
]
} |
The antiphospholipid syndrome (APS) is characterized by the presence of pathogenic autoantibodies against beta2-glycoprotein-I (beta2GPI). | NA | {
"id": 4760,
"name": "NEUROD1",
"pos": [
106,
5
]
} | {
"id": "C0085278",
"name": "Antiphospholipid Syndrome",
"pos": [
4,
25
]
} |
The ratio of CTLA-4(+)/CD28(+) in CD4(+)CD25(bright) T cells was significantly higher than that of the CD4(+)CD25(dim) T cells both in normal pregnancy and in miscarriage. | NA | {
"id": 920,
"name": "CD4",
"pos": [
103,
3
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
159,
11
]
} |
The most frequent adverse events attributable to CHOP were alopecia (38 patients), neutropenia (31 patients), and fever (23 patients). | NA | {
"id": 1649,
"name": "DDIT3",
"pos": [
49,
4
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
114,
5
]
} |
Genetic alterations in Ki-ras and Ha-ras genes in juvenile nasopharyngeal angiofibromas and head and neck cancer. | NA | {
"id": 3845,
"name": "KRAS",
"pos": [
23,
6
]
} | {
"id": "C0206731",
"name": "Angiofibroma",
"pos": [
74,
13
]
} |
Given previous data supporting a role for IL1RL1 in TH2 inflammation, we hypothesized that ST2L expression might be increased in TH2-like asthma and that expression levels would be associated with single nucleotide polymorphisms in IL1RL1, possibly explaining its genetic relationship with asthma. | NA | {
"id": 9173,
"name": "IL1RL1",
"pos": [
232,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
56,
12
]
} |
A dose-response relationship between smoking defined as pack-years smoked (PY) and p53 mutations was clearly demonstrated [Odds ratio (OR) for PY 30-59: 1.92 (0.55-7.94); OR for PY 60: 4.21 (1.09-19.0); trend P=0. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
83,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
37,
7
]
} |
Method and Results- The proinflammatory effect of CRP was measured by the induction of inflammatory adhesion molecules in human umbilical vein endothelial cells (HUVECs). | NA | {
"id": 1401,
"name": "CRP",
"pos": [
50,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
100,
8
]
} |
Seizure susceptibility of neuropeptide-Y null mutant mice in amygdala kindling and chemical-induced seizure models. | therapeutic | {
"id": 4852,
"name": "NPY",
"pos": [
26,
14
]
} | {
"id": "C4317123",
"name": "Myoclonic Seizures",
"pos": [
0,
7
]
} |
Moreover, in these cells, selective stimulation of the JNK/p38 MAPK pathways by adenovirus-mediated delivery of recombinant MKK7 or MKK3 led to sensitization to apoptosis through reactivating FasL expression. | NA | {
"id": 5599,
"name": "MAPK8",
"pos": [
55,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
80,
10
]
} |
Successful validation was provided by transcript profiling in another malignant glioma cell line U87-MG and its resistant counterparts. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
97,
3
]
} | {
"id": "C0555198",
"name": "Malignant Glioma",
"pos": [
70,
16
]
} |
Furthermore, DNA damage induces ISG15 conjugation to p53 and this modification markedly enhances the binding of p53 to the promoters of its target genes (for example, CDKN1 and BAX) as well as of its own gene by promoting phosphorylation and acetylation, leading to suppression of cell growth and tumorigenesis. | genomic_alterations | {
"id": 581,
"name": "BAX",
"pos": [
177,
3
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
297,
13
]
} |
Leukemia cells from adults with Philadelphia (Ph1)-chromosome positive chronic myelogenous leukemia (CML) have a characteristic molecular rearrangement between the BCR and ABL genes whereby major breakpoint cluster region (Mbcr) exons 2 or 3 are joined to ABL exon II. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
46,
3
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
71,
28
]
} |
These results indicate that loss of p53 contributes to neovascularization through regulation of HIF-1. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
36,
3
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
55,
18
]
} |
Nonspecific AHR was measured in 154 asymptomatic, young, healthy adults using a continuous methacholine inhalation method. | NA | {
"id": 196,
"name": "AHR",
"pos": [
12,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
36,
12
]
} |
Ghrelin-induced gastroprotection against ischemia-reperfusion injury involves an activation of sensory afferent nerves and hyperemia mediated by nitric oxide. | therapeutic | {
"id": 51738,
"name": "GHRL",
"pos": [
0,
7
]
} | {
"id": "C0035126",
"name": "Reperfusion Injury",
"pos": [
41,
27
]
} |
Two of the patients with isolated aniridia were abnormal, one with an apparently balanced reciprocal 7;11 translocation and an 11p13 breakpoint, which by FISH was shown to be approximately 30 kb distal to the aniridia (PAX6) gene, and the other had a submicroscopic deletion involving part of PAX6 that extended distally for approximately 245 kb. | NA | {
"id": 5080,
"name": "PAX6",
"pos": [
293,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
106,
13
]
} |
TEL2/ETV7 is highly homologous to the ETS transcription factor TEL/ETV6, a frequent target of chromosome translocation in human leukemia. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
67,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
94,
24
]
} |
There is an urgent need to assess the accuracy/feasibility of using dried blood spots (DBS) for monitoring of HIV-1 viral load in resource-limited settings. | NA | {
"id": 4036,
"name": "LRP2",
"pos": [
87,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
116,
10
]
} |
Apoptosis of RPMI 8226 cells or purified myeloma cells from MM patients in the Ad-PTEN-GFP group was increased significantly when compared with that in the Ad-GFP (adenovirus vectors only expressing green fluorescent protein) group (p < 0.01). | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
82,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
164,
10
]
} |
The aim of this study was to determine whether SMN gene copy number increases the risk of ALS or modulates its phenotype in a cohort of Swedish sporadic ALS (SALS) patients. | NA | {
"id": 6606,
"name": "SMN1",
"pos": [
47,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
144,
8
]
} |
HOTAIR polymorphism rs1899663 was associated with BC, CC, and OC susceptibility to a certain extent, (alleles T/G OR = 0.90 [95% CI, 0.69-1.16]; in the codominant model: GT/GG OR = 0.81 [95% CI, 0.50-1.30], TT/GG OR = 1.04 [95% CI, 0.63-1.72]; dominant model: GT + TT/GG OR = 0.82 [95% CI, 0.52-1.29]; and recessive model: TT/GT + GG OR = 1.21 [95% CI, 0.76-1.94]). | genomic_alterations | {
"id": 100124700,
"name": "HOTAIR",
"pos": [
0,
6
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
62,
2
]
} |
Quinacrine induces apoptosis in human leukemia K562 cells via p38 MAPK-elicited BCL2 down-regulation and suppression of ERK/c-Jun-mediated BCL2L1 expression. | biomarker | {
"id": 7965,
"name": "AIMP2",
"pos": [
62,
3
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
38,
8
]
} |
However, the pathogenic mechanism of LRRK2 mutations in PD remains largely unknown. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
37,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
56,
2
]
} |
Subsets and Splits