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dict |
|---|---|---|---|
GLUT 4 translocation, phosphorylation of AMPK and Akt, AMPK activity, and association of IRS-1 and PI3K were investigated in the presence of CGA.
|
NA
|
{
"id": 6513,
"name": "SLC2A1",
"pos": [
0,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
7,
13
]
}
|
Polymorphisms in DNA repair genes (APEX1, XPD, XRCC1 and XRCC3) and risk of preeclampsia in a Mexican mestizo population.
|
NA
|
{
"id": 7517,
"name": "XRCC3",
"pos": [
57,
5
]
}
|
{
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
76,
12
]
}
|
The DMT1 IVS4 C(+) allele occurred more frequently in WND than in the healthy controls.
|
genomic_alterations
|
{
"id": 25978,
"name": "CHMP2B",
"pos": [
4,
4
]
}
|
{
"id": "C0019202",
"name": "Hepatolenticular Degeneration",
"pos": [
54,
3
]
}
|
In the left ventricle, aortic constriction triggers GATA4 activation via posttranslational modifications without influencing GATA4 expression, while pulmonary artery banding enhances GATA4 expression in the right ventricle.
|
NA
|
{
"id": 2626,
"name": "GATA4",
"pos": [
125,
5
]
}
|
{
"id": "C1261287",
"name": "Stenosis",
"pos": [
30,
12
]
}
|
WT p53 chaperone therapy is further shown to cause significant regression of tumor xenografts through reconversion of the mutant phenotype to wild-type p53.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
152,
3
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
63,
10
]
}
|
Nucleotide variations in genes encoding plasminogen activator inhibitor-2 and serine proteinase inhibitor B10 associated with prostate cancer.
|
NA
|
{
"id": 5169,
"name": "ENPP3",
"pos": [
106,
3
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
126,
15
]
}
|
When used alone or in combination with LXY-LS-DOX, M-RAPA could greatly inhibit the expression of HIF-1α protein, which is always highly expressed in malignant cancers and involved in tumor angiogenesis, proliferation, therapeutic resistance and poor prognosis.
|
NA
|
{
"id": 55809,
"name": "TRERF1",
"pos": [
53,
4
]
}
|
{
"id": "C1519670",
"name": "Tumor Angiogenesis",
"pos": [
184,
18
]
}
|
Furthermore, following dopamine-depletion and development of behavioral deficits in Rotorod performance, indicative of parkinsonism, we observed a dramatic decrease in total striatal levels of PSD-95 and SAP97 (to 25.6 +/- 9.9% and 19.0 +/- 5.0% of control, respectively).
|
NA
|
{
"id": 1739,
"name": "DLG1",
"pos": [
204,
5
]
}
|
{
"id": "C0242422",
"name": "Parkinsonian Disorders",
"pos": [
119,
12
]
}
|
All three TRAF3IP2 single nucleotide polymorphisms resulted associated with the development of pericarditis; in particular, rs33980500 showed the strongest association (P = 0.002, OR 2.59).
|
genomic_alterations
|
{
"id": 10758,
"name": "TRAF3IP2",
"pos": [
10,
8
]
}
|
{
"id": "C0031046",
"name": "Pericarditis",
"pos": [
95,
12
]
}
|
HPT and VWF were validated as increased in OA patients.
|
biomarker
|
{
"id": 7450,
"name": "VWF",
"pos": [
8,
3
]
}
|
{
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
43,
2
]
}
|
We report a novel pathogenic mutation in the E2 UBE2A, identified in two brothers with mild intellectual disability.
|
genomic_alterations
|
{
"id": 7319,
"name": "UBE2A",
"pos": [
48,
5
]
}
|
{
"id": "C0026106",
"name": "Mild Mental Retardation",
"pos": [
87,
28
]
}
|
Hippocampal sst(1) receptors are autoreceptors and do not affect seizures in rats.
|
therapeutic
|
{
"id": 6750,
"name": "SST",
"pos": [
12,
3
]
}
|
{
"id": "C3495874",
"name": "Nonepileptic Seizures",
"pos": [
65,
8
]
}
|
Tumour necrosis factor-α suppresses the hypoxic response by NF-κB-dependent induction of inhibitory PAS domain protein in PC12 cells.
|
NA
|
{
"id": 64344,
"name": "HIF3A",
"pos": [
89,
29
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
40,
7
]
}
|
High-order interactions among reflux, BMI, smoking, and functional polymorphisms in five apoptotic genes (FAS, FASL, IL1B, TP53BP, and BAT3) were investigated by entropy-based multifactor dimensionality reduction (MDR), classification and regression tree (CART), and traditional logistic regression (LR) models.
|
NA
|
{
"id": 7917,
"name": "BAG6",
"pos": [
135,
4
]
}
|
{
"id": "C4317146",
"name": "Acid reflux",
"pos": [
30,
6
]
}
|
GVHD induced wasting disease in recipients of B6.IL-12R(-/-) CD4(+) spleen cells that received a TNF inhibitor-encoding adenovirus (5.4 +/- 6.5% weight loss (n = 7)) was significantly reduced compared with levels of weight loss observed in recipients that had received a control adenovirus (25.7 +/- 12.2% weight loss (n = 11), p = 0.001).
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
61,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
279,
10
]
}
|
BBL also inhibited carrageenan peritoneal neutrophil migration (51%), leukocyte rolling (58%) and adhesion (68%) and the neutrophil migration induced by TNF-α (64%).
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
153,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
98,
8
]
}
|
A subset of genes including EVL, GATAs (4 and 5), HIN-1, SFRPs (1, 2, 4 and 5), SOX17 and SYNE1 were methylated frequently in all premalignant gastrointestinal adenomas including tubular adenomas, villous adenomas, SSAs and SSAs with dysplasia but infrequently in non-premalignant polyps such as HPPs.
|
NA
|
{
"id": 23345,
"name": "SYNE1",
"pos": [
90,
5
]
}
|
{
"id": "C0032584",
"name": "polyps",
"pos": [
281,
6
]
}
|
Panthothenate kinase-associated neurodegeneration (PKAN, OMIM 234200), is an inborn is an autosomal recessive inborn error of metabolism caused by pathogenic variants in PANK2.
|
genomic_alterations
|
{
"id": 80025,
"name": "PANK2",
"pos": [
170,
5
]
}
|
{
"id": "C0025521",
"name": "Inborn Errors of Metabolism",
"pos": [
110,
26
]
}
|
The expression levels of Eag1 protein were determined in 76 cancer tissues with paired non-cancerous matched tissues as well as 9 colorectal adenoma tissues by immunohistochemistry.
|
NA
|
{
"id": 3756,
"name": "KCNH1",
"pos": [
25,
4
]
}
|
{
"id": "C1302401",
"name": "Adenoma of large intestine",
"pos": [
130,
18
]
}
|
B-raf gene mutations seem to be a quite common event in gallbladder carcinomas, implying that B-raf may play an important role in the pathogenesis of this tumor.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
0,
5
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
155,
5
]
}
|
The aim is to explore the role of lncRNA potassium voltage-gated channel subfamily Q member 1 overlapping transcript 1 (KCNQ1OT1) and associated novel mechanisms in the progression and chemoresistance of AML.
|
biomarker
|
{
"id": 10984,
"name": "KCNQ1OT1",
"pos": [
120,
8
]
}
|
{
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
204,
3
]
}
|
Thus the characterization of this rearrangement has yielded a new set of probes for the study of chromosome 6q abnormalities in human leukemias and lymphomas and provides the first evidence for potential involvement of the c-MYB locus itself in submicroscopic deletions within chromosome 6.
|
NA
|
{
"id": 4602,
"name": "MYB",
"pos": [
223,
5
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
111,
13
]
}
|
The chimeric transcript FUS-ERG formed by this translocation which causes the replacement of RNA-binding domain of FUS (alias TLS) with the DNA-binding domain of ERG, and this event is thought to be responsible for leukemogenesis.
|
NA
|
{
"id": 2078,
"name": "ERG",
"pos": [
162,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
47,
13
]
}
|
Serum PCSK9 levels were correlated with multiple metabolic variables including age, BMI, total cholesterol, LDL cholesterol, triglycerides, fasting blood glucose, systolic blood pressure (SP) and diastolic blood pressure (DP) in this population.
|
NA
|
{
"id": 255738,
"name": "PCSK9",
"pos": [
6,
5
]
}
|
{
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
196,
24
]
}
|
These results suggest that Hoxa5 may be a potential therapeutic target for obesity and other metabolic syndromes.
|
biomarker
|
{
"id": 3202,
"name": "HOXA5",
"pos": [
27,
5
]
}
|
{
"id": "C0524620",
"name": "Metabolic Syndrome X",
"pos": [
93,
19
]
}
|
In this study, we found that Kaposi's sarcoma cells but not human microvascular endothelial cells expressed PAX2, a gene coding for a transcription factor involved both in organogenesis and tumorigenesis.
|
NA
|
{
"id": 5076,
"name": "PAX2",
"pos": [
108,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
190,
13
]
}
|
The translocation t(8;16)(p11;p13.3) consistently disrupts two genes: the CBP gene on chromosome band 16p13.3 and the MOZ gene on chromosome band 8p11.
|
NA
|
{
"id": 1387,
"name": "CREBBP",
"pos": [
74,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
13
]
}
|
There was no significant correlation between GLUT4 polypeptide levels and HbA1c, fasting plasma glucose, insulin, or free fatty acids, daily insulin dose, duration of diabetes, or subject age but in IDDM subjects GLUT4 protein levels correlated negatively with body mass index.
|
NA
|
{
"id": 6517,
"name": "SLC2A4",
"pos": [
45,
5
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
261,
15
]
}
|
PRG1, IL-10, CD68, IL-23a, and IL-12a expression in noncancerous tissue, and PRG1, ANXA1, IL-23a, IL-17a, FOXP3, and HLA-DRA expression in tumor tissues were associated with poor prognosis based on Cox regression (/Z-score/ >1.5) and were used to generate the inflammatory risk score (IRS).
|
NA
|
{
"id": 8870,
"name": "IER3",
"pos": [
77,
4
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
202,
10
]
}
|
To examine the possibility of the involvement of 14-3-3 epsilon in the pathogenesis of suicide, we investigated the association of the 14-3-3 epsilon gene and completed suicide.
|
NA
|
{
"id": 7531,
"name": "YWHAE",
"pos": [
49,
14
]
}
|
{
"id": "C0038661",
"name": "Suicide",
"pos": [
169,
7
]
}
|
Galectin-3 stabilizes heterogeneous nuclear ribonucleoprotein Q to maintain proliferation of human colon cancer cells.
|
NA
|
{
"id": 10492,
"name": "SYNCRIP",
"pos": [
22,
41
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
99,
12
]
}
|
Microphthalmia (Mi) is a basic helix-loop-helix-leucine zipper (b-HLH-ZIP) transcription factor implicated in pigmentation, mast cells, and bone development.
|
NA
|
{
"id": 1613,
"name": "DAPK3",
"pos": [
70,
3
]
}
|
{
"id": "C0031911",
"name": "Pigmentation",
"pos": [
110,
12
]
}
|
Further analysis revealed that rapamycin and starvation led to phosphorylation and inactivation of glycogen synthase (GS, EC 2.4.1.11), dephosphorylated and activated in the GBE1-suppressed neurons.
|
NA
|
{
"id": 2632,
"name": "GBE1",
"pos": [
174,
4
]
}
|
{
"id": "C0038187",
"name": "Starvation",
"pos": [
45,
10
]
}
|
Here we investigated whether WOX1 is involved in MPP+-induced neurodegeneration.
|
NA
|
{
"id": 51741,
"name": "WWOX",
"pos": [
29,
4
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
62,
17
]
}
|
Myopia status was defined using sphere (SPH) or spherical equivalent (SE), and analyses assessed the association of (1) high-grade myopia (<or=-5.00 D), and (2) any myopia (<or=-0.50 D) with IGF-1 markers.
|
NA
|
{
"id": 253970,
"name": "SFTA3",
"pos": [
40,
3
]
}
|
{
"id": "C0027092",
"name": "Myopia",
"pos": [
165,
6
]
}
|
ADAMTS1 is an extracellular metalloproteinase known to participate in a variety of biological processes that includes inflammation, angiogenesis, and development of the urogenital system.
|
NA
|
{
"id": 9510,
"name": "ADAMTS1",
"pos": [
0,
7
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
118,
12
]
}
|
Notably, topical application of epidermal lipids from wild-type onto Pnpla1-mutant mice promoted rebuilding of the corneocyte-bound lipid envelope, indicating that supplementation of ichthyotic skin with omega-O-acylceramides might be a therapeutic approach for the treatment of skin symptoms in individuals affected by omega-O-acylceramide deficiency.
|
genomic_alterations
|
{
"id": 285848,
"name": "PNPLA1",
"pos": [
69,
6
]
}
|
{
"id": "C0020757",
"name": "Ichthyoses",
"pos": [
183,
15
]
}
|
Matrix metalloproteinase 3 polymorphisms as a potential marker of enhanced susceptibility to lung cancer in chronic obstructive pulmonary disease subjects.
|
genomic_alterations
|
{
"id": 4314,
"name": "MMP3",
"pos": [
0,
26
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
93,
11
]
}
|
The acquired or perinatal form of biliary atresia is a Th1 fibro-inflammatory disease affecting both the extrahepatic and intrahepatic bile ducts.
|
NA
|
{
"id": 51497,
"name": "NELFCD",
"pos": [
55,
3
]
}
|
{
"id": "C1290884",
"name": "Inflammatory disorder",
"pos": [
65,
20
]
}
|
These results indicate that loss of p53 contributes to neovascularization through regulation of HIF-1.
|
NA
|
{
"id": 29072,
"name": "SETD2",
"pos": [
96,
5
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
55,
18
]
}
|
To investigate a potential association between the beta-2-adrenergic receptor (B2AR) polymorphisms occurring at amino acid positions 16 (Arg16Gly) and 27 (Gln27Glu) and preterm labor.
|
NA
|
{
"id": 154,
"name": "ADRB2",
"pos": [
79,
4
]
}
|
{
"id": "C0022876",
"name": "Premature Obstetric Labor",
"pos": [
169,
13
]
}
|
von Willebrand disease Normandy (vWD Normandy) is a recently described phenotype in which a mutant von Willebrand factor (vWF) appears structurally and functionally normal except that it does not bind to blood coagulation factor VIII.
|
genomic_alterations
|
{
"id": 2157,
"name": "F8",
"pos": [
210,
23
]
}
|
{
"id": "C0042974",
"name": "von Willebrand Disease",
"pos": [
0,
22
]
}
|
To evaluate this hypothesis, 4 homozygous PINK1 patients with PD and 10 asymptomatic carriers of a single heterozygous mutation from a large German family (family W) were included in this study.
|
NA
|
{
"id": 65018,
"name": "PINK1",
"pos": [
42,
5
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
72,
12
]
}
|
BRCA1 is a tumor suppressor gene and germ line mutations account for the majority of familial cases of breast and ovarian cancer.
|
genomic_alterations
|
{
"id": 672,
"name": "BRCA1",
"pos": [
0,
5
]
}
|
{
"id": "C1611743",
"name": "Familial (FPAH)",
"pos": [
85,
8
]
}
|
AIM: To study the expression of p53, MDM2, and p14 ARF in the highly, moderately and low differentiated endometrial adenocarcinomas, compared to hyperplasia.
|
NA
|
{
"id": 4193,
"name": "MDM2",
"pos": [
37,
4
]
}
|
{
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
145,
11
]
}
|
Lp-PLA2 activity in Japanese men aged 50-79 years was associated significantly and positively with IMT and plaque in the carotid artery but Mendelian randomization did not support that Lp-PLA2 is a causative factor for subclinical atherosclerosis.
|
NA
|
{
"id": 7941,
"name": "PLA2G7",
"pos": [
185,
7
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
107,
6
]
}
|
In prostate cancer cells, EGR1 localizes in the cytoplasm; however, BCA remarkably upregulates EGR1 nuclear translocalization, suggesting its possible effect as a transcriptional activator.
|
NA
|
{
"id": 29760,
"name": "BLNK",
"pos": [
68,
3
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
3,
15
]
}
|
MCP-1, MCP-3, CRP, FGF-9, fibrinogen, and OSM were increased 2- to 9-fold in BALF of rats exposed for 5 and 10 days to 200 ppm.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
14,
3
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
26,
10
]
}
|
Immunization with a combination melanoma helper peptide (6MHP) vaccine has been shown to induce CD4(+) T cell responses, which are associated with patient survival.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
96,
3
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
32,
8
]
}
|
High-throughput short-read sequencing of exomes and whole cancer genomes in multiple human hepatocellular carcinoma (HCC) cohorts confirmed previously identified frequently mutated somatic genes, such as TP53, CTNNB1 and AXIN1, and identified several novel genes with moderate mutation frequencies, including ARID1A, ARID2, MLL, MLL2, MLL3, MLL4, IRF2, ATM, CDKN2A, FGF19, PIK3CA, RPS6KA3, JAK1, KEAP1, NFE2L2, C16orf62, LEPR, RAC2, and IL6ST.
|
genomic_alterations
|
{
"id": 3660,
"name": "IRF2",
"pos": [
347,
4
]
}
|
{
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
91,
24
]
}
|
The current understanding of immune dysfunction in MPNs and analogous MyMs offers a compelling rationale to study PD-1/PD-L1 inhibition in patients as a novel treatment option.
|
biomarker
|
{
"id": 5133,
"name": "PDCD1",
"pos": [
114,
4
]
}
|
{
"id": "C0021053",
"name": "Immune System Diseases",
"pos": [
29,
18
]
}
|
Synaptic transmission and long-term potentiation (LTP) in the CA1 region of hippocampal slices have been studied during ageing of a double transgenic mouse strain relevant to early-onset familial Alzheimer's disease (AD).
|
NA
|
{
"id": 759,
"name": "CA1",
"pos": [
62,
3
]
}
|
{
"id": "C0001811",
"name": "Aging",
"pos": [
120,
6
]
}
|
In cases of invasive epithelial cervical carcinomas, small basal-type tumour cells were mostly negative whilst cells with squamous differentiation were strongly positive for PP17.
|
NA
|
{
"id": 10226,
"name": "PLIN3",
"pos": [
174,
4
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
41,
10
]
}
|
Consistent with a role for Atad5 in suppressing tumorigenesis, we also identified somatic mutations of ATAD5 in 4.6% of sporadic human endometrial tumors, including two nonsense mutations that resulted in loss of proper ATAD5 function.
|
NA
|
{
"id": 79915,
"name": "ATAD5",
"pos": [
220,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
120,
8
]
}
|
Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations.
|
genomic_alterations
|
{
"id": 79188,
"name": "TMEM43",
"pos": [
98,
6
]
}
|
{
"id": "C0042514",
"name": "Tachycardia, Ventricular",
"pos": [
0,
23
]
}
|
These data suggest that the profound effects of COX-2 silencing on inhibiting invasion, tumor growth and metastasis from MDA-MB-231 cells are dependent on the induction of IL-1beta-dependent COX-2 and HIF-1alpha but are independent of hypoxia
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
201,
10
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
235,
7
]
}
|
These findings suggest that an AAV-mediated gene transfer may be useful for the treatment of Fabry disease and possibly other metabolic disorders.
|
NA
|
{
"id": 17,
"name": "AAVS1",
"pos": [
31,
3
]
}
|
{
"id": "C0025517",
"name": "Metabolic Diseases",
"pos": [
126,
19
]
}
|
In addition, we have excluded a previously known TSG PPP2R1B at 11q23 as a deletion target in CC.
|
biomarker
|
{
"id": 5519,
"name": "PPP2R1B",
"pos": [
53,
7
]
}
|
{
"id": "C4048328",
"name": "cervical cancer",
"pos": [
94,
2
]
}
|
The larger obese/lean rats ratio of LPL and ACS parameters in abdominal subcutaneous fat than mesenteric fat may be related to the observation that the increase of subcutaneous fat weight was larger than that of mesenteric fat weight in fatty rats (21.1- vs 4.9-fold).
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
36,
3
]
}
|
{
"id": "C0028754",
"name": "Obesity",
"pos": [
11,
5
]
}
|
Withdrawal symptom intensities demonstrated an inverse correlation with beta-endorphin and met-enkephalin levels, a direct linear correlation with amplitude height of the evoked potential, and blood pressure and heart rate changes.
|
NA
|
{
"id": 5443,
"name": "POMC",
"pos": [
72,
14
]
}
|
{
"id": "C0018810",
"name": "heart rate",
"pos": [
212,
10
]
}
|
We found that not only BACE1 but also full-length APP expression was significantly elevated with progressive Aβ accumulation in 5XFAD mice, while GRL-8234 failed to affect these detrimental mechanisms that further accelerate plaque growth in brains of older 5XFAD mice.
|
NA
|
{
"id": 23621,
"name": "BACE1",
"pos": [
23,
5
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
225,
6
]
}
|
PTCH1 mutations, including four novel ones, were found in 9 hereditary KCOT patients, but not in sporadic KCOT patients.
|
NA
|
{
"id": 5727,
"name": "PTCH1",
"pos": [
0,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
97,
8
]
}
|
The lack of an association between other chromosome 8 abnormalities and tetralogy of Fallot suggests that genes at the SLV Rec(8) breakpoints or an interaction between genes on both arms of chromosome 8 are important.
|
NA
|
{
"id": 55974,
"name": "SLC50A1",
"pos": [
119,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
54,
13
]
}
|
We suggest that MYCN amplicons arise from extra replication rounds of unbroken DNA secondary structures that accumulate at FRA2C.
|
NA
|
{
"id": 2375,
"name": "FRA2C",
"pos": [
123,
5
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
83,
9
]
}
|
Point mutations of the donor splice site of intron 3 of the human GH-1 gene cause autosomal dominant inherited isolated growth hormone deficiency (IGHD II).
|
genomic_alterations
|
{
"id": 2688,
"name": "GH1",
"pos": [
66,
4
]
}
|
{
"id": "C0013338",
"name": "Pituitary dwarfism",
"pos": [
111,
34
]
}
|
The study evaluated the association between BDNF Val66Met variants and suicide, committed with violent or non-violent methods, in victims with or without stressful childhood experience.
|
NA
|
{
"id": 627,
"name": "BDNF",
"pos": [
44,
4
]
}
|
{
"id": "C0038661",
"name": "Suicide",
"pos": [
71,
7
]
}
|
To determine whether mutations in the UCHL1 gene are causative for Parkinson's disease (PD) a detailed mutation analysis was performed in a large sample of German sporadic and familial PD patients.
|
NA
|
{
"id": 7345,
"name": "UCHL1",
"pos": [
38,
10
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
163,
8
]
}
|
These data indicate that RA strongly interacts with IL-4 and IFN-gamma to regulate pIgR expression in HT-29 cells, suggesting that vitamin A may be required for proper in vivo regulation of IgA transport in response to mucosal infections.
|
NA
|
{
"id": 5284,
"name": "PIGR",
"pos": [
83,
4
]
}
|
{
"id": "C3714514",
"name": "Infection",
"pos": [
227,
10
]
}
|
MicroRNA-21-Mediated Inhibition of Mast Cell Degranulation Involved in the Protective Effect of Berberine on 2,4-Dinitrofluorobenzene-Induced Allergic Contact Dermatitis in Rats via p38 Pathway.
|
biomarker
|
{
"id": 25897,
"name": "RNF19A",
"pos": [
182,
3
]
}
|
{
"id": "C0162820",
"name": "Dermatitis, Allergic Contact",
"pos": [
142,
27
]
}
|
Mild cases are either sporadic or familial and are caused by mutations in FGFR2 or FGFR1, respectively.
|
NA
|
{
"id": 2263,
"name": "FGFR2",
"pos": [
74,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
22,
8
]
}
|
Because obesity also induces macrophage recruitment into adipose tissue, we elucidated here the role of Cbl-b in obesity-related insulin resistance.
|
NA
|
{
"id": 868,
"name": "CBLB",
"pos": [
104,
5
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
129,
18
]
}
|
The RNA-binding motif (RRM) gene on Y chromosome (RBMY), encoding a male germ cell-specific RNA-binding protein associated with spermatogenesis, was found inserted by hepatitis B virus (HBV) DNA in one childhood hepatocellular carcinoma (HCC).
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
238,
3
]
}
|
{
"id": "C0279606",
"name": "Childhood Hepatocellular Carcinoma",
"pos": [
202,
34
]
}
|
Functional polymorphisms in the MAO-A uVNTR promoter gene, the COMT gene (Val158Met) exon 4, and the 5-HTT promoter gene (44 bp ins/del) were investigated in 101 patients with phobic disorders of the anxiety spectrum and 202 controls matched to the patients for sex, age and ethnicity.
|
genomic_alterations
|
{
"id": 110806262,
"name": "LOC110806262",
"pos": [
101,
14
]
}
|
{
"id": "C0349231",
"name": "Phobic anxiety disorder",
"pos": [
176,
16
]
}
|
Besides the influence of environmental factors, such as viral infection, an increasing number of novel genetic components identified by genome-wide association studies have been associated with predisposition to HCC.
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
212,
3
]
}
|
{
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
56,
15
]
}
|
Moreover, miR-10b, miR-21 and miR-182 could be defined as biomarkers in breast cancer to predict both lymph node metastases and grade III occurrence.
|
biomarker
|
{
"id": 406958,
"name": "MIR182",
"pos": [
30,
7
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
72,
13
]
}
|
Of the genes upregulated in CD133+ cells compared with CD133- cells, we noted several key factors involved in the aggressive behavior of cells, including ABCG2 and matrix metalloproteinase (MMP).
|
NA
|
{
"id": 9429,
"name": "ABCG2",
"pos": [
154,
5
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
114,
19
]
}
|
These results indicate a complex combined effect of several SNPs within the DBP gene that might underlie susceptibility to low radial BMD and osteoporosis.
|
genomic_alterations
|
{
"id": 1628,
"name": "DBP",
"pos": [
76,
3
]
}
|
{
"id": "C0029456",
"name": "Osteoporosis",
"pos": [
142,
12
]
}
|
The relation between CLLU1 expression and time to therapy, overall survival and presence or absence of ZAP-70, CD38, chromosomal aberrations or IgV(H) mutations in the 59 patients was analyzed.
|
NA
|
{
"id": 952,
"name": "CD38",
"pos": [
111,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
117,
23
]
}
|
A positive correlation between messenger RNA levels of CD68 (marker for macrophages), FR-β (r = 0.53, P = 0.045), and hypoxia-inducible factor-1α expression (marker for intraplaque hypoxia; r = 0.55, P = 0.034) was found.
|
NA
|
{
"id": 968,
"name": "CD68",
"pos": [
55,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
181,
7
]
}
|
Linkage of dyslexia to the vicinity of DYX3 on 2p was confirmed with a non-parametric linkage (NPL) score of 2.55 and a lod score of 3.01 for a dominant model, and a novel locus on 7q32 close to the SPCH1 locus was suggested with an NPL score of 2.77.
|
NA
|
{
"id": 80896,
"name": "NPL",
"pos": [
233,
3
]
}
|
{
"id": "C0476254",
"name": "Dyslexia",
"pos": [
11,
8
]
}
|
These FISH results suggest that the translocation causes a disruption of the PAX2 gene and leads to ONCR, in agreement with the recent reports of PAX2 mutations in two unrelated families with ONCR.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
6,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
36,
13
]
}
|
We hypothesized that MIF triggers an initial step in the chemotaxis of IFN-γ-producing cells in chemically induced skin inflammation.
|
NA
|
{
"id": 268,
"name": "AMH",
"pos": [
21,
3
]
}
|
{
"id": "C0011603",
"name": "Dermatitis",
"pos": [
115,
17
]
}
|
Expression of ERCC1, TYMS, RRM1, TUBB3, non-muscle myosin II, myoglobin and MyoD1 in lung adenocarcinoma pleural effusions predicts survival in patients receiving platinum-based chemotherapy.
|
NA
|
{
"id": 7298,
"name": "TYMS",
"pos": [
21,
4
]
}
|
{
"id": "C0032227",
"name": "Pleural effusion disorder",
"pos": [
105,
17
]
}
|
We investigated if polymorphisms in the farnesoid X receptor gene influence the risk for spontaneous bacterial peritonitis.
|
NA
|
{
"id": 9971,
"name": "NR1H4",
"pos": [
40,
20
]
}
|
{
"id": "C0275551",
"name": "Primary bacterial peritonitis",
"pos": [
89,
33
]
}
|
During a subsequent 3-month period of pyridoxine supplementation, serum ferritin level and transferrin saturation decreased, hemoglobin content and serum hepcidin level normalized, and morphologic red cell abnormalities improved markedly.
|
NA
|
{
"id": 57817,
"name": "HAMP",
"pos": [
154,
8
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
206,
13
]
}
|
Then, we used MASA 78 to analyze 78 archival thyroid tissues, including normal samples, follicular adenomas, follicular carcinomas and PTC.
|
NA
|
{
"id": 58478,
"name": "ENOPH1",
"pos": [
14,
4
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
120,
10
]
}
|
In this report, we investigated the tissue specificity of tumor inhibitory activities induced by a recombinant adenovirus coding for wild-type BRCA1 (wtAdBRCA1).
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
143,
5
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
111,
10
]
}
|
Moreover, this differential sensitivity was also observed within subclones of p53(-/-) MEF cells transformed with an activated ras allele, suggesting that secondary genetic events and clonal selection, but not cellular transformation per se, may drive the resistance patterns for certain null-p53 tumors.
|
NA
|
{
"id": 2000,
"name": "ELF4",
"pos": [
87,
3
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
155,
9
]
}
|
We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
51,
3
]
}
|
{
"id": "C0026010",
"name": "Microphthalmos",
"pos": [
129,
14
]
}
|
We stratified the patients according to CD4 CDC criteria and applied Kaplan-Meier analysis using the following end-point criteria: (a) the time from HAART initiation to undetectable viral load (VL) counts (VL<50 copies/ml), (b) the duration of undetectable VL status and (c) the time required for CD4+ T-cell counts to pass over the 500 cells/ml threshold.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
297,
3
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
182,
10
]
}
|
To determine how the autocrine expression of epidermal growth factor receptor (EGFR) ligands by carcinoma cells would affect this paracrine loop mechanism, and in particular whether tumor cell invasion depends on spatial ligand gradients generated by TAMs, we generated cell lines with increased HBEGF expression.
|
NA
|
{
"id": 1839,
"name": "HBEGF",
"pos": [
296,
5
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
96,
9
]
}
|
Using reconstituted basement membrane invasion, chemotaxis, adhesion, PAGE substrate zymography and RT-PCR assays, we analyzed the abilities of invasion, direct migration, adhesion of intracellular matrix, as well as the activity of type IV collagenase and expression of tissue inhibitor of metalloproteinase (TIMP)-1 and TIMP-2 mRNA in SGC-7901 cells which were treated with gradually increased concentrations (25, 50, 100 and 200 micromol/L) of c9, t11-CLA for 24 h. At the concentrations of 200 micromol/L, 100 micromol/L and 50 micromol/L, c9,t11-CLA suppressed the invasion of SGC-7901 cells into the reconstituted basement membrane by 53.7 %, 40.9 % and 29.3 %, respectively, in comparison with the negative control.
|
NA
|
{
"id": 914,
"name": "CD2",
"pos": [
547,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
172,
8
]
}
|
We report the novel compound heterozygous pathogenic VARS2 mutations c.643 C > T (p. His215Tyr) and c.1354 A > G (p. Met452Val) in a female infant who presented with poor sucking at birth, poor activity, hyporeflexia, hypertonia, persistent pulmonary hypertension of newborn (PPHN), metabolic acidosis, severe lactic acidosis, expansion and hypertrophic cardiomyopathy.
|
genomic_alterations
|
{
"id": 57176,
"name": "VARS2",
"pos": [
53,
5
]
}
|
{
"id": "C0007194",
"name": "Hypertrophic Cardiomyopathy",
"pos": [
347,
27
]
}
|
SYNJ1 was higher in DSAD and significantly higher than SYNJ1 in sporadic AD.
|
NA
|
{
"id": 8867,
"name": "SYNJ1",
"pos": [
55,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
64,
8
]
}
|
In the present study, ILK expression in 95 gastric tumor tissues and 30 adjacent non-cancerous gastric mucosa was evaluated by immunohistochemistry and correlated with clinicopathological characteristics and patients' outcome.
|
NA
|
{
"id": 3611,
"name": "ILK",
"pos": [
22,
3
]
}
|
{
"id": "C0038356",
"name": "Stomach Neoplasms",
"pos": [
43,
13
]
}
|
Continuous intrathecal administration of the 5-LO inhibitor or BLT1 and CysLT1 receptor antagonists suppressed mechanical allodynia induced by SNI.
|
NA
|
{
"id": 1241,
"name": "LTB4R",
"pos": [
63,
4
]
}
|
{
"id": "C2936719",
"name": "Mechanical Allodynia",
"pos": [
111,
20
]
}
|
Genetic susceptibility to tardive dyskinesia in chronic schizophrenia subjects: I. Association of CYP1A2 gene polymorphism.
|
NA
|
{
"id": 1544,
"name": "CYP1A2",
"pos": [
98,
11
]
}
|
{
"id": "C0013384",
"name": "Dyskinetic syndrome",
"pos": [
34,
10
]
}
|
Relative to physiological saline, systolic blood pressure was increased by ACTH (P < 0.001) and dexamethasone (P < 0.01).
|
NA
|
{
"id": 5443,
"name": "POMC",
"pos": [
75,
4
]
}
|
{
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
34,
23
]
}
|
The semi-quantitative denaturating high performance liquid chromatography (DHPLC) method was used to detect CNVs in the region of CAPN10 Indel19 marker in cohort of 305 patients with type 2 diabetes and 250 control subjects without diabetes.
|
genomic_alterations
|
{
"id": 11132,
"name": "CAPN10",
"pos": [
130,
6
]
}
|
{
"id": "C0011847",
"name": "Diabetes",
"pos": [
232,
8
]
}
|
Here we report a nonsense mutation in the PAX9 gene that is associated with molar tooth agenesis in a Finnish family.
|
NA
|
{
"id": 5083,
"name": "PAX9",
"pos": [
42,
9
]
}
|
{
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
82,
14
]
}
|
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