text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
Aberrant regulation of SCF E3 ligases is associated with various human diseases, such as cancers, including skin cancer.
|
NA
|
{
"id": 4254,
"name": "KITLG",
"pos": [
23,
3
]
}
|
{
"id": "C0007114",
"name": "Malignant neoplasm of skin",
"pos": [
108,
11
]
}
|
Since the identification of a well-characterized functional polymorphism named p.Pro198Leu (rs1050450 C>T) in GPX1 gene, abundant studies have evaluated the association between p.Pro198Leu polymorphism and tumor risk in diverse population.
|
genomic_alterations
|
{
"id": 2876,
"name": "GPX1",
"pos": [
113,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
209,
5
]
}
|
Immunity-related GTPase family M protein (IRGM) is a human protein recently highlighted for its contribution to autophagy upon infections.
|
NA
|
{
"id": 345611,
"name": "IRGM",
"pos": [
42,
4
]
}
|
{
"id": "C3714514",
"name": "Infection",
"pos": [
127,
10
]
}
|
Suppression of KCNQ1OT1 may prevent myocardial I/R injury following acute myocardial infarction via regulating AdipoR1 and involving in p38 MAPK/NF-κB signal pathway.
|
biomarker
|
{
"id": 51094,
"name": "ADIPOR1",
"pos": [
111,
7
]
}
|
{
"id": "C0155626",
"name": "Acute myocardial infarction",
"pos": [
68,
27
]
}
|
To extend the findings, we tested association of two SNPs previously reported--rs3783799 and rs2230500--in PRKCH with silent lacunar infarction (SLI), which has drawn substantial attention in the aging societies.
|
NA
|
{
"id": 5583,
"name": "PRKCH",
"pos": [
107,
5
]
}
|
{
"id": "C0001811",
"name": "Aging",
"pos": [
196,
5
]
}
|
To determine whether leukocyte chemoattractants or chemokines are participating in this disease process, immunohistochemical staining for the CXC chemokine, MGSA/GROalpha, and its receptor, CXCR2, was performed on tissue from keloids, hypertrophic scars and normal skin.
|
NA
|
{
"id": 2919,
"name": "CXCL1",
"pos": [
157,
4
]
}
|
{
"id": "C0022548",
"name": "Keloid",
"pos": [
226,
7
]
}
|
HER-2 amplification and topoisomerase IIalpha gene aberrations as predictive markers in node-positive breast cancer patients randomly treated either with an anthracycline-based therapy or with cyclophosphamide, methotrexate, and 5-fluorouracil.
|
therapeutic
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
0,
5
]
}
|
{
"id": "C4704874",
"name": "Mammary Carcinoma, Human",
"pos": [
102,
13
]
}
|
Germ-line mutations of APC gene give rise to familial adenomatous polyposis coli (FAP) - autosomal dominant syndrome manifesting hundreds to thousands of colorectal polyps, if untreated with malignant progression.
|
genomic_alterations
|
{
"id": 324,
"name": "APC",
"pos": [
23,
3
]
}
|
{
"id": "C0949059",
"name": "Polyp of large intestine",
"pos": [
154,
17
]
}
|
The macrophage hemoglobin scavenging receptor CD163 plays an essential role in the clearance of hemoglobin released from lysed red blood cells after intraplaque hemorrhage.
|
NA
|
{
"id": 9332,
"name": "CD163",
"pos": [
46,
5
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
161,
10
]
}
|
In multivariable analysis adjusting for age, sex, diabetes and renal disease, the adjusted OR for 28-day mortality in carriers of the variant was 0.24 (95% CI 0.05-1.08, P = 0.06); and the adjusted OR for 90-day mortality was 0.27 (95% CI 0.08-0.97, P = 0.04). c.1174C>T was associated with a lower rate of bacteremia (P = 0.04) and reduced plasma levels of IL-10 (P = 0.049) and TNF-α (P < 0.0001).
|
genomic_alterations
|
{
"id": 7124,
"name": "TNF",
"pos": [
383,
5
]
}
|
{
"id": "C0011847",
"name": "Diabetes",
"pos": [
50,
8
]
}
|
In this study, we investigated the presence of the t(4;14) translocation in 42 AL patients using a reverse transcriptase-polymerase chain reaction assay for the detection of IGH/MMSET transcripts.
|
NA
|
{
"id": 3492,
"name": "IGH",
"pos": [
174,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
59,
13
]
}
|
Cases included well-known rare, recurring chromosomal aberrations such as t(3;17)(q26;q22), t(2;3)(p21-22;q26), and t(3;6)(q26;q25), as well as 10 new sporadic cases.
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
99,
3
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
42,
23
]
}
|
Fn14: a new player in cancer-induced cachexia.
|
biomarker
|
{
"id": 51330,
"name": "TNFRSF12A",
"pos": [
0,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
22,
6
]
}
|
Both 1p36 deletion and MYCN amplification showed significant correlation with undifferentiated tumors (chi-square test, P = 0.002 and 0.03, respectively).
|
genomic_alterations
|
{
"id": 4613,
"name": "MYCN",
"pos": [
23,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
95,
6
]
}
|
In this study, we found that hypoxia induces miR-424 expression and that miR-424 in turn suppresses the level of PDCD4 protein, a tumor suppressor that is involved in apoptosis, by targeting its 3' untranslated region.
|
NA
|
{
"id": 27250,
"name": "PDCD4",
"pos": [
113,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
29,
7
]
}
|
FISH of chromosomes 3, 7, 9 and 17 performed on exfoliated cells from voided urine specimens may serve as a non-invasive tool to distinguish UUT-UC from benign disorders presenting with hematuria.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
0,
4
]
}
|
{
"id": "C0018965",
"name": "Hematuria",
"pos": [
186,
9
]
}
|
P-LAP is also referred to as insulin-regulated membrane aminopeptidase (IRAP) associated with GLUT4-containing vesicle.
|
NA
|
{
"id": 4012,
"name": "LNPEP",
"pos": [
72,
4
]
}
|
{
"id": "C3814530",
"name": "Skin Vesicle",
"pos": [
111,
7
]
}
|
We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 rs105653840;7087;841">rs1056538</span>;rs754504235;s754504235" genes_norm="7087;841">V301I</span> (rs1056538) and NUMA1 A794G (rs3750913).
|
genomic_alterations
|
{
"id": 472,
"name": "ATM",
"pos": [
209,
3
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
86,
13
]
}
|
The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and -2).
|
NA
|
{
"id": 4775,
"name": "NFATC3",
"pos": [
184,
6
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
68,
6
]
}
|
To investigate the cellular effects of DDT and BPA, we used the human MCF-7 breast cancer cell line, which is ER (+) and hormone sensitive.
|
biomarker
|
{
"id": 667,
"name": "DST",
"pos": [
47,
3
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
76,
13
]
}
|
We found that rapamycin (early chronic treatment for 17 weeks, starting at P45) exhibited clear antiepileptogenic properties also in this animal epilepsy model; however, this effect was accompanied by unexpected prodepressant effects.
|
NA
|
{
"id": 4778,
"name": "NFE2",
"pos": [
75,
3
]
}
|
{
"id": "C0014544",
"name": "Epilepsy",
"pos": [
145,
8
]
}
|
We investigated 18 adrenals with APA and 15 with non-functioning adrenal incidentaloma (NFAI) for expression of Disabled-2 and GIRK4, two markers of zona glomerulosa (ZG), and 77 adrenals with APA with known mutational status for GIRK4 expression.
|
NA
|
{
"id": 3762,
"name": "KCNJ5",
"pos": [
127,
5
]
}
|
{
"id": "C2609247",
"name": "Adrenal incidentaloma",
"pos": [
65,
21
]
}
|
These observations suggest that at least some of the inflammation in CD is the result of responses by CD4+ T cells to specific antigens.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
102,
3
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
53,
12
]
}
|
Far less clear is the possible involvement of NR5A1 mutations in cryptorchidism.
|
genomic_alterations
|
{
"id": 2516,
"name": "NR5A1",
"pos": [
46,
5
]
}
|
{
"id": "C0010417",
"name": "Cryptorchidism",
"pos": [
65,
14
]
}
|
Overexpression of MDM4 (also known as MDMX or HDMX) is thought to promote tumorigenesis by decreasing p53 tumor suppressor function.
|
NA
|
{
"id": 4194,
"name": "MDM4",
"pos": [
46,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
74,
13
]
}
|
A variety of molecular, cell-based, biochemical, and immunochemical assays were used to evaluate: (1) Pitx2c expression in the porcine model of diastolic HF (DHF) and in patients with systolic HF (SHF) due to dilated and ischemic cardiomyopathy, and (2) molecular consequences of Pitx2c expression manipulation in cardiomyocytes in vitro.
|
NA
|
{
"id": 90525,
"name": "SHF",
"pos": [
197,
3
]
}
|
{
"id": "C0349782",
"name": "Ischemic cardiomyopathy",
"pos": [
221,
23
]
}
|
Homozygous deletions of p16(INK4) and DPC4 were found in eight of 22 (36%) and four of 25 tumors (16%), respectively.
|
genomic_alterations
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
28,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
90,
6
]
}
|
While lipoblastomas characteristically involve 8q, only one prior case has been reported with 14q24 as its fusion partner [M. He, K. Das, M. Blacksin, J. Benevenia, M. Hameed, A translocation involving the placental growth factor gene is identified in an epithelioid hemangioendothelioma.Cancer Genet.Cytogenet.168 (2006) 150-154].
|
genomic_alterations
|
{
"id": 5228,
"name": "PGF",
"pos": [
206,
23
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
288,
6
]
}
|
We observed that the inability of RSV F(85)-specific memory CD8 T cells to inhibit the development of pulmonary eosinophilia was largely due to an inadequate total number of F(85)-specific memory CD8 T cells in the lung at early times after RSV challenge.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
196,
3
]
}
|
{
"id": "C0034068",
"name": "Pulmonary Eosinophilia",
"pos": [
102,
22
]
}
|
Our results provide the first evidence that DRR1 is involved in GBM invasion and progression possibly through the induction of EMT activation by phosphorylation of AKT.
|
biomarker
|
{
"id": 11170,
"name": "FAM107A",
"pos": [
44,
4
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
68,
8
]
}
|
SMLC, a substrate in the catalytic antioxidant system mediated by MSRA, prevents the alpha-synuclein-induced abnormalities.
|
NA
|
{
"id": 6622,
"name": "SNCA",
"pos": [
85,
15
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
109,
13
]
}
|
Although pale stained, their identification as lysosomes was confirmed by EM immunocytochemistry with anti-cathepsin D and anti-Hex A antibodies.
|
NA
|
{
"id": 1509,
"name": "CTSD",
"pos": [
107,
11
]
}
|
{
"id": "C0030232",
"name": "Pallor",
"pos": [
9,
4
]
}
|
In conclusion, TWEAK engagement of Fn14 is a central event promoting NFκB-mediated activation of inflammation pathways and suppression of anti-inflammatory/anti-ageing pathways.
|
NA
|
{
"id": 8742,
"name": "TNFSF12",
"pos": [
15,
5
]
}
|
{
"id": "C0001811",
"name": "Aging",
"pos": [
167,
6
]
}
|
The patient is characterized by severe hypotonia, obesity, microstomia, long eyelashes, hirsutism, microretrognathia, short nose, severe psychomotor retardation, and multiple episodes of drug-resistant epileptic seizures, while her brain magnetic resonance imaging (MRI) documented partial corpus callosum dysplasia.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
266,
3
]
}
|
{
"id": "C0019572",
"name": "Hirsutism",
"pos": [
88,
9
]
}
|
It is characterized by the t(11;14) translocation, implicating cyclin D1 (CCND1) in its pathogenesis.
|
NA
|
{
"id": 595,
"name": "CCND1",
"pos": [
74,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
36,
13
]
}
|
These data show that SAA proteins are effectors for the metastasis-promoting functions of S100A4, and serve as a link between inflammation and tumor progression.
|
NA
|
{
"id": 6275,
"name": "S100A4",
"pos": [
90,
6
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
126,
12
]
}
|
Of these, Frem1, Foxo1, and Setd7 have been implicated in the pathogenesis of nephropathy.
|
biomarker
|
{
"id": 2308,
"name": "FOXO1",
"pos": [
17,
5
]
}
|
{
"id": "C0022658",
"name": "Kidney Diseases",
"pos": [
78,
11
]
}
|
We show that the t(4;11)(p12;q23) translocation results in the creation of a chimeric RNA encoding a putative fusion protein containing 1,362 amino acids from the NH2-terminal part of MLL and 712 amino acids from the COOH-terminal part of AF4p12.
|
NA
|
{
"id": 285527,
"name": "FRYL",
"pos": [
239,
6
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
34,
13
]
}
|
Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila.
|
NA
|
{
"id": 9463,
"name": "PICK1",
"pos": [
35,
5
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
97,
17
]
}
|
The results of this study suggest that GSTP1, INSIG2 and IL4Ra may influence the lifetime asthma susceptibility through gene-gene interactions in schoolchildren.
|
NA
|
{
"id": 2950,
"name": "GSTP1",
"pos": [
39,
5
]
}
|
{
"id": "C1869116",
"name": "ASTHMA, SUSCEPTIBILITY TO (finding)",
"pos": [
90,
21
]
}
|
These results suggest a strong relationship between the risk of pancreatic carcinoma and the presence of combinations of K-ras gene mutation, papillary growth, and expression of sialomucin in foci of MCH.
|
NA
|
{
"id": 5367,
"name": "PMCH",
"pos": [
200,
3
]
}
|
{
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
64,
20
]
}
|
High HOXB13-to-IL17BR ratio expression levels associate with both tumor aggressiveness and tamoxifen therapy failure.
|
NA
|
{
"id": 10481,
"name": "HOXB13",
"pos": [
5,
6
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
72,
14
]
}
|
Inactivation of the p16(INK4a)/Rb pathway may allow continuous cell division and critical telomere shortening, which induce genome instability, finally leading to malignant transformation.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
24,
5
]
}
|
{
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
124,
18
]
}
|
Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p.R403W and pA797T in β-myosin heavy chain gene (MYH7) and p.R92W in the cardiac troponin T gene (TNNT2)) segregate.
|
NA
|
{
"id": 4625,
"name": "MYH7",
"pos": [
264,
4
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
84,
11
]
}
|
We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability.
|
NA
|
{
"id": 285175,
"name": "UNC80",
"pos": [
135,
5
]
}
|
{
"id": "C0026827",
"name": "Muscle hypotonia",
"pos": [
156,
9
]
}
|
Odds ratios and 95% confidence intervals were used to identify potential associations between IL‑4 genetic polymorphisms and the risk of cancer.
|
genomic_alterations
|
{
"id": 3565,
"name": "IL4",
"pos": [
94,
4
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
137,
6
]
}
|
In contrast, high S-phase values correlated with estrogen receptor negativity, high grade, and DNA aneuploidy.
|
NA
|
{
"id": 2099,
"name": "ESR1",
"pos": [
49,
17
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
99,
10
]
}
|
This study described treatment patterns in a psoriatic arthritis (PsA) patient registry for new or ongoing tumor necrosis factor inhibitor (TNFi) monotherapy, conventional synthetic disease-modifying antirheumatic drug (csDMARD) monotherapy, or TNFi/csDMARD combination therapy.
|
genomic_alterations
|
{
"id": 7124,
"name": "TNF",
"pos": [
107,
21
]
}
|
{
"id": "C1519176",
"name": "Salivary Gland Pleomorphic Adenoma",
"pos": [
66,
3
]
}
|
Patients with diabetes are more vulnerable to myocardial ischemia/reperfusion (MI/R) injury, which is associated with excessive reactive oxygen species (ROS) generation and decreased antioxidant defense.
|
biomarker
|
{
"id": 6098,
"name": "ROS1",
"pos": [
153,
3
]
}
|
{
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
46,
19
]
}
|
The molecular signature of ASPS is a specific der(17)t(X;17)(p11.2;q25) translocation, which results in the fusion of TFE3 transcription factor gene at Xp11.2 with ASPL at 17q25.
|
NA
|
{
"id": 8909,
"name": "ENDOU",
"pos": [
61,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
72,
13
]
}
|
In this review, we outline the development of CDK inhibitory therapy in breast cancer, including the initial experience with the pan-CDK inhibitor flavopiridol and the next generation of oral highly selective CDK4 and CDK6 inhibitors PD0332991 (palbociclib), LEE011 (ribociclib), and LY2835219 (abemaciclib).
|
biomarker
|
{
"id": 1021,
"name": "CDK6",
"pos": [
218,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
72,
13
]
}
|
Here, we show that GBM cell lines, U87 and LN18, exhibited enhanced hypoxic responses compared with control normal human astrocytes, and a corresponding HIF-1-dependent increase in AGR2 mRNA and protein.
|
NA
|
{
"id": 10551,
"name": "AGR2",
"pos": [
181,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
68,
7
]
}
|
Frequent methylation of eyes absent 4 gene in Barrett's esophagus and esophageal adenocarcinoma.
|
NA
|
{
"id": 2070,
"name": "EYA4",
"pos": [
24,
13
]
}
|
{
"id": "C0279628",
"name": "Adenocarcinoma Of Esophagus",
"pos": [
70,
25
]
}
|
TRB3, a mammalian tribbles homolog, whose chromosomal region 20p13-p12 has been linked to human type 2 diabetes, impairs insulin signaling through the inhibition of Akt phosphorylation and is overexpressed in murine models of insulin resistance.
|
NA
|
{
"id": 50838,
"name": "TAS2R13",
"pos": [
0,
4
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
226,
18
]
}
|
In unaffected women, age was negatively associated with IGF-I (p = 0.002) and IGF-I/IGFBP-3 (p = 0.001), while age at menarche was negatively associated with IGFBP-3 levels (p = 0.043).
|
NA
|
{
"id": 3479,
"name": "IGF1",
"pos": [
78,
5
]
}
|
{
"id": "C1314691",
"name": "Age at menarche",
"pos": [
111,
15
]
}
|
Research is warranted on advanced PAP modes in managing CPAP failure in PTSD patients with comorbid OSA.
|
biomarker
|
{
"id": 11334,
"name": "TUSC2",
"pos": [
34,
3
]
}
|
{
"id": "C0038436",
"name": "Post-Traumatic Stress Disorder",
"pos": [
72,
4
]
}
|
The decreased risk observed for the development of SIL and not ICC in the presence of the D allele may indicate that CYP2E1 interferes with the initial steps of the carcinogenic process, probably due to its involvement in the action of immunological mediators, expressed during cervical inflammation.
|
NA
|
{
"id": 1571,
"name": "CYP2E1",
"pos": [
117,
6
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
287,
12
]
}
|
Secondary structure analysis of the ND5 protein further supported the deleterious role of the 12706C mutation, as it was found to affect a functionally significant transmembrane domain that is likely responsible for the proton-translocation function of complex I.
|
NA
|
{
"id": 4540,
"name": "ND5",
"pos": [
36,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
227,
13
]
}
|
We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls.
|
NA
|
{
"id": 7015,
"name": "TERT",
"pos": [
161,
4
]
}
|
{
"id": "C0007114",
"name": "Malignant neoplasm of skin",
"pos": [
235,
11
]
}
|
Moreover, human testicular biopsies from infertile men with focal lymphocytic infiltrates (n = 7) and sections with intact spermatogenesis (n = 6) were probed with antibodies against HMGB1.
|
NA
|
{
"id": 3146,
"name": "HMGB1",
"pos": [
183,
5
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
41,
9
]
}
|
The expressions of P-gp, LRP and MRP in formalin-fixed paraffin-embedded tissue sections from 59 gastric cancer patients were determined by a labbelled Streptavidin-Peroxidase (SP) immunohistochemical technique, and the results were analyzed in correlation with clinicopathological data.
|
NA
|
{
"id": 4035,
"name": "LRP1",
"pos": [
25,
3
]
}
|
{
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
97,
14
]
}
|
Thus, we provide evidence that hypoxia upregulates RANK and RANKL expression and increases RANKL-induced cell migration via the PI3K/Akt-HIF-1α pathway.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
137,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
31,
7
]
}
|
Our study suggested that ANLN may be a potential tumor oncogene and could serve as a biomarker for predicting the prognosis of cervical cancer patients.
|
biomarker
|
{
"id": 54443,
"name": "ANLN",
"pos": [
25,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
49,
5
]
}
|
The data demonstrate a direct myocardial role for AII in the development of cardiac hypertrophy and failure and provide a useful model to elucidate the mechanisms of action of AII in the pathogenesis of cardiac diseases.
|
NA
|
{
"id": 114548,
"name": "NLRP3",
"pos": [
176,
3
]
}
|
{
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
76,
19
]
}
|
RKIP expression and its role in tumorigenesis and metastasis in pancreatic cancer are poorly understood.
|
NA
|
{
"id": 5037,
"name": "PEBP1",
"pos": [
0,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
32,
13
]
}
|
A variable number tandem repeat (VNTR) in the PERIOD3 (PER3) gene has been associated with sleep disorders, differences in diurnal hormone secretion, and increased premenopausal breast cancer risk.
|
genomic_alterations
|
{
"id": 8863,
"name": "PER3",
"pos": [
55,
4
]
}
|
{
"id": "C0851578",
"name": "Sleep Disorders",
"pos": [
91,
15
]
}
|
Skin conductance during rest and during experiments testing habituation and conditioning of the SCR was recorded in 7-year-old (n = 42) and 10-year-old (n = 57) children.
|
NA
|
{
"id": 84961,
"name": "FBXL20",
"pos": [
96,
3
]
}
|
{
"id": "C0013170",
"name": "Drug habituation",
"pos": [
60,
11
]
}
|
Activating mutations in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (KATP) channel is a cause of neonatal diabetes associated with various neurological disorders that include developmental delay, epilepsy, and neonatal diabetes (known together as DEND syndrome).
|
NA
|
{
"id": 3767,
"name": "KCNJ11",
"pos": [
28,
6
]
}
|
{
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
164,
22
]
}
|
The G-protein estrogen receptor (GPER) exhibits a stimulatory role in diverse types of cancer cells and in CAFs under hypoxic conditions.
|
NA
|
{
"id": 2852,
"name": "GPER1",
"pos": [
33,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
118,
7
]
}
|
Although studies have shown a positive correlation between mutations in the tumor suppressor gene p53 and aggressive behavior in epithelial tumors, the results for BCC are conflicting.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
93,
8
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
106,
19
]
}
|
In this study we evaluated protein expression of five major claudins in BRCA1-related breast cancers in comparison with sporadic controls.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
72,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
120,
8
]
}
|
While the underlying mechanisms of hypoxic pulmonary vasoconstriction may be controversial, a role for RhoA/Rho kinase mediated regulation of intracellular Ca(2+) has been recently identified.
|
NA
|
{
"id": 6093,
"name": "ROCK1",
"pos": [
108,
10
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
35,
7
]
}
|
By inter-group comparison, expression of TNF-α, IFN-γ of granulomas in the hyperplasia group was significantly higher than that of the necrosis group, while the expression of TGF-β, IL-4 of granulomas in the necrosis group was significantly higher than that of the hyperplasia group.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
48,
3
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
208,
8
]
}
|
HSP72 is a mitochondrial stress sensor critical for Parkin action, oxidative metabolism, and insulin sensitivity in skeletal muscle.
|
NA
|
{
"id": 3303,
"name": "HSPA1A",
"pos": [
0,
5
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
93,
19
]
}
|
Our data support the unique central role of the VHL/HIF-2α signaling pathway in the molecular pathogenesis of CNS-HBs and show for the first time the presence of HIF2A mutations in sporadic HB.
|
NA
|
{
"id": 2034,
"name": "EPAS1",
"pos": [
162,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
181,
8
]
}
|
Expansion of GAA·TTC repeats within the first intron of the frataxin gene is the cause of Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disorder.
|
genomic_alterations
|
{
"id": 2395,
"name": "FXN",
"pos": [
60,
8
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
141,
26
]
}
|
Double-blind, placebo-controlled study of HGF gene therapy in diabetic neuropathy.
|
therapeutic
|
{
"id": 3082,
"name": "HGF",
"pos": [
42,
8
]
}
|
{
"id": "C0271674",
"name": "Asymmetric Diabetic Proximal Motor Neuropathy",
"pos": [
62,
19
]
}
|
Taken together, the results suggested that miR-638 might perform tumor suppressive effects in EWS, which might be mediated, at least partially, through suppressing the activity of VEGFA.
|
biomarker
|
{
"id": 693223,
"name": "MIR638",
"pos": [
43,
7
]
}
|
{
"id": "C0553580",
"name": "Ewings sarcoma",
"pos": [
94,
3
]
}
|
Here, we evaluated the effects of RBPJ inhibition on the growth of lung cancer cells.
|
NA
|
{
"id": 3516,
"name": "RBPJ",
"pos": [
34,
4
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
67,
11
]
}
|
Real-time PCR was used to measure mRNA level of tumour-suppressor genes and candidates in 3p21.3 (RBSP3/CTDSPL, NPRL2/G21, RASSF1A, ITGA9, HYAL1 and HYAL2 in basic types of non-small cell lung cancer (NSCLC)--squamous cell lung cancer (SCC) and lung adenocarcinoma (AC).
|
NA
|
{
"id": 8692,
"name": "HYAL2",
"pos": [
149,
5
]
}
|
{
"id": "C0149782",
"name": "Squamous cell carcinoma of lung",
"pos": [
209,
25
]
}
|
The genotype of LAPTM4B was analyzed in 350 unrelated healthy adult individuals and 214 patients with gastric cancer by utilizing polymerase chain reaction based on specific primers.
|
genomic_alterations
|
{
"id": 55353,
"name": "LAPTM4B",
"pos": [
16,
7
]
}
|
{
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
102,
14
]
}
|
VIP analogs, which contain a single lysine amino acid, were synthesized and evaluated using breast cancer cells.
|
NA
|
{
"id": 27151,
"name": "CPAMD8",
"pos": [
0,
3
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
92,
13
]
}
|
The present study evaluates the effects of extract of Musa sapientum fruit (MSE) on ulcer index, blood glucose level and gastric mucosal cytokines, TNF-α and IL-1β and growth factor, TGF-α (affected in diabetes and chronic ulcer) in acetic acid (AA)-induced gastric ulcer (GU) in diabetic (DR) rat.
|
NA
|
{
"id": 2027,
"name": "ENO3",
"pos": [
76,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
202,
8
]
}
|
Anti-ASGM1 Ab treatment of RSV-infected BALB/c mice depleted GM1/ASGM1-expressing NK cells and GM1/ASGM1-expressing T cells, reduced lung IFN-gamma levels, increased viral load, delayed viral clearance, and reduced illness.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
138,
3
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
166,
10
]
}
|
Hepatocyte growth factor and HER2/neu downregulate expression of apoptosis-inducing factor in non-small cell lung cancer.
|
NA
|
{
"id": 9131,
"name": "AIFM1",
"pos": [
65,
25
]
}
|
{
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
94,
26
]
}
|
ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome.
|
NA
|
{
"id": 24148,
"name": "PRPF6",
"pos": [
0,
4
]
}
|
{
"id": "C0751401",
"name": "Ophthalmoparesis",
"pos": [
250,
16
]
}
|
These results suggest that GCK gene defects exist in non-obese children who are diagnosed with asymptomatic diabetes by school medical examinations.
|
NA
|
{
"id": 2645,
"name": "GCK",
"pos": [
27,
8
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
95,
12
]
}
|
Investigation of the candidate genes for proteinuria in adults from the general population provided support for a region on chromosome 15 near RSL24D1/UNC13C/RAB27A.
|
NA
|
{
"id": 440279,
"name": "UNC13C",
"pos": [
151,
6
]
}
|
{
"id": "C0033687",
"name": "Proteinuria",
"pos": [
41,
11
]
}
|
Results show that SIRT1 is not increased in the dorsolateral prostate (DLP) of calorie-restricted mice during carcinogenesis.
|
NA
|
{
"id": 54957,
"name": "TXNL4B",
"pos": [
71,
3
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
110,
14
]
}
|
RNA sequencing, real-time PCR, western blotting, and enzyme-linked immunosorbent assays were conducted to characterize NTRK2 in astrocytomas.
|
biomarker
|
{
"id": 4915,
"name": "NTRK2",
"pos": [
119,
5
]
}
|
{
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
128,
12
]
}
|
Despite sharing a high level of homology and the ability to activate PI3K, only Irs-2 positively regulates aerobic glycolysis in mammary tumor cells.
|
NA
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
69,
4
]
}
|
{
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
129,
13
]
}
|
Hexokinase 2 in colorectal cancer: a potent prognostic factor associated with glycolysis, proliferation and migration.
|
biomarker
|
{
"id": 3099,
"name": "HK2",
"pos": [
0,
12
]
}
|
{
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
16,
17
]
}
|
Here, we identify CLIM and RLIM as novel ERalpha cofactors that colocalize and interact with ERalpha in primary human breast tumors.
|
NA
|
{
"id": 51132,
"name": "RLIM",
"pos": [
27,
4
]
}
|
{
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
118,
13
]
}
|
There are three inheritance patterns of CNDI: the X-linked recessive form associated with vasopressin V2 receptor gene mutations, and the autosomal recessive and dominant forms associated with aquaporin-2 gene (AQP2) mutations.
|
genomic_alterations
|
{
"id": 554,
"name": "AVPR2",
"pos": [
90,
23
]
}
|
{
"id": "C0677501",
"name": "Congenital Nephrogenic Diabetes Insipidus",
"pos": [
40,
4
]
}
|
The expression of CCN2, IQSEC, RSPO1, DNAJC15, RIPK2, IL13RA2, IRS1, and IRS2 genes in blood of obese boys with insulin resistance.
|
NA
|
{
"id": 284654,
"name": "RSPO1",
"pos": [
31,
5
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
112,
18
]
}
|
This study examined the associations and age-specific effects on asthma, atopy and bronchial hyper-responsiveness (BHR) of five candidate genes previously identified by positional cloning (ADAM33, PHF11, NPSR1, DPP10, SPINK5).
|
NA
|
{
"id": 387129,
"name": "NPSR1",
"pos": [
204,
5
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
73,
5
]
}
|
BT474 and SK-BR-3 mammary adenocarcinoma cells contain eight copies of the c-erbB2 gene but overexpress the mRNA 80 times over the levels measured in normal breast or in the HBL-100 cell line.
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
77,
10
]
}
|
{
"id": "C3669246",
"name": "Mammary adenocarcinoma",
"pos": [
18,
22
]
}
|
BMP2 and Smad1 each significantly promoted survival and diminished apoptotic death of cardiomyocytes during hypoxia-reoxygenation.
|
NA
|
{
"id": 2617,
"name": "GARS1",
"pos": [
9,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
108,
7
]
}
|
This study was carried out to evaluate the association of genetic polymorphism -670A>G in the promoter of Fas gene as well as serum biomarkers aspartate aminotransferase (AST) platelet ratio index (APRI) and AST/alanine aminotransferase (ALT) with significant fibrosis and cirrhosis in chronic hepatitis C patients.
|
NA
|
{
"id": 2875,
"name": "GPT",
"pos": [
212,
24
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
260,
8
]
}
|
Our data suggest that BD patients with ocular involvement and erythema nodosum-like lesions have a higher frequency of both the A allele and the A/A genotype at position 49 of exon 1 of CTLA-4.
|
NA
|
{
"id": 1493,
"name": "CTLA4",
"pos": [
186,
6
]
}
|
{
"id": "C0014743",
"name": "Erythema Nodosum",
"pos": [
62,
16
]
}
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.