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Taken together, these data for the first time identify Aqp5 as a Dot1a potential transcriptional target, and an Aqp2 binding partner and regulator, and suggest that the upregulated Aqp5 may contribute to polyuria, possibly by impairing Aqp2 membrane localization, in Dot1l(AC) mice and in patients with diabetic nephropathy.
|
NA
|
{
"id": 84444,
"name": "DOT1L",
"pos": [
267,
5
]
}
|
{
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
303,
20
]
}
|
In ovary-intact mice, deletion of gper increased atherosclerosis progression, total and LDL cholesterol levels and inflammation while reducing vascular NO bioactivity, effects that were in some cases aggravated by surgical menopause.
|
NA
|
{
"id": 2852,
"name": "GPER1",
"pos": [
34,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
115,
12
]
}
|
The findings are consistent with the idea that, in central nervous system (CNS) inflammation, autocrine alpha-MSH exerts anti-inflammatory actions via modulation of NF-kappaB activation by preservation of IkappaBalpha protein.
|
NA
|
{
"id": 4792,
"name": "NFKBIA",
"pos": [
205,
12
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
80,
12
]
}
|
Therefore, we further evaluated the prognostic impact of CRP for patients with metastatic renal cell carcinoma treated with molecular-targeted agents of tyrosine kinase inhibitors.
|
biomarker
|
{
"id": 1401,
"name": "CRP",
"pos": [
57,
3
]
}
|
{
"id": "C0278678",
"name": "Metastatic Renal Cell Cancer",
"pos": [
79,
31
]
}
|
Gypenoside XVII (GP-17) is a phytoestrogen that is widely used to prevent cardiovascular disease, including atherosclerosis, but the mechanism underlying these therapeutic effects is largely unclear.
|
biomarker
|
{
"id": 5304,
"name": "PIP",
"pos": [
17,
5
]
}
|
{
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
108,
15
]
}
|
Our data suggested that p53 codon 72 polymorphism may play a role in cancer susceptibility and prognosis in specific classes of lung cancer patients in Taiwan.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
24,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
69,
6
]
}
|
The low-activity COMT and CYP1A2 variant alleles were weakly related to lower percent mammographic density after adjustment for age, ethnicity, body mass index and reproductive variables (p for gene-dosage =0.08 and 0.05, respectively).
|
NA
|
{
"id": 1312,
"name": "COMT",
"pos": [
17,
4
]
}
|
{
"id": "C1268717",
"name": "Mammographic Breast Density",
"pos": [
86,
20
]
}
|
We demonstrate for the first time the potential therapeutic effects of Ad-mda7 in human lung cancer.
|
biomarker
|
{
"id": 11009,
"name": "IL24",
"pos": [
74,
4
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
88,
11
]
}
|
Decreased XOR was associated with advanced stage, deep tumour penetration, diffusely spread tumour location, positive lymph node status, large tumour size, non-curative disease, cellular aneuploidy, high S-phase fraction and high cyclooxygenase-2 expression, but not with p53 expression or Borrmann classification.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
272,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
187,
10
]
}
|
Thirty-three hits were identified to inhibit CDK8 and seven of them were active against colorectal cancer cell lines.
|
biomarker
|
{
"id": 1024,
"name": "CDK8",
"pos": [
45,
4
]
}
|
{
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
88,
17
]
}
|
However, the protective effects of neuronal NEP expression on intraneuronal Abeta42 accumulation and neurodegeneration remain elusive.
|
NA
|
{
"id": 780,
"name": "DDR1",
"pos": [
44,
3
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
101,
17
]
}
|
Therefore, we used experimental DM mice (caused by an intraperitoneal injection of streptozotocin [STZ]) to determine whether these neurodegeneration-associated mechanisms were associated with region-specific selective vulnerability or tau phosphorylation.
|
NA
|
{
"id": 6484,
"name": "ST3GAL4",
"pos": [
99,
3
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
132,
17
]
}
|
Type 1 diabetes (T1D) is associated with autoimmune thyroid disease (AIT), celiac disease (CD), Addison's disease (AD), and other autoimmune diseases.
|
NA
|
{
"id": 160728,
"name": "SLC5A8",
"pos": [
69,
3
]
}
|
{
"id": "C0007570",
"name": "Celiac Disease",
"pos": [
75,
14
]
}
|
Our data suggest that the PYY-Y2R pathway may influence body weight through a sex-specific mechanism, but this finding requires confirmation in other populations.
|
NA
|
{
"id": 5697,
"name": "PYY",
"pos": [
26,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
56,
11
]
}
|
MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or "pure" encephalopathies with no gross morphological abnormalities in muscle.
|
NA
|
{
"id": 92399,
"name": "MRRF",
"pos": [
143,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
234,
13
]
}
|
Long-term LU135252 treatment completely prevented this activation (13.3+/-0.3 versus 55+/-4 nmol/L, P<0.05) independent of ACE mRNA expression, body weight, or renal ET-1 protein but did not affect pulmonary or hepatic ACE activity.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
123,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
144,
11
]
}
|
PCR technique was used to determine the AGT I R gene polymorphism in 86 patients without DN, 67 with microalbuminuria, 66 with clinical albuminuria and 20 type 2 DM patients with renal insufficiency.
|
NA
|
{
"id": 183,
"name": "AGT",
"pos": [
40,
3
]
}
|
{
"id": "C0730345",
"name": "Microalbuminuria",
"pos": [
101,
16
]
}
|
Regression analyses of 17 variants of OPRK1 and 11 variants of PDYN with change of viral load (VL) and CD4 count between admission and initiation of HAART and initiation of HAART to the most recent visit to Women's Interagency HIV Study were performed in 598 HIV+ subjects, including African Americans, Hispanics, and Whites.
|
NA
|
{
"id": 4986,
"name": "OPRK1",
"pos": [
38,
5
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
83,
10
]
}
|
This confirms that SAMS is a human malformation syndrome resulting from GSC mutations.
|
genomic_alterations
|
{
"id": 145258,
"name": "GSC",
"pos": [
72,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
35,
12
]
}
|
CONCLUSION The results indicate that the loss of function (transactivation activities) of p53 mutant proteins may predict a significant low pCR rate and suboptimal response to cisplatin-based neoadjuvant chemotherapy in patients with oral cavity SCC.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
90,
3
]
}
|
{
"id": "C0585362",
"name": "Squamous cell carcinoma of mouth",
"pos": [
234,
15
]
}
|
Disease-associated SNPs (5 in NLRP1 and 2 in NLRP3), previously associated to infections and to immunologic disorders, were genotyped in 467 leprosy patients (327 multibacillary, MB; 96 paucibacillary, PB) and in 380 healthy controls (HC) from the state of Sao Paulo (Brazil), and in 183 patients (147MB; 64PB) and 186 HC from Mato Grosso (Brazil).
|
genomic_alterations
|
{
"id": 22861,
"name": "NLRP1",
"pos": [
30,
5
]
}
|
{
"id": "C0021053",
"name": "Immune System Diseases",
"pos": [
96,
21
]
}
|
Massively parallel sequencing reveals an accumulation of de novo mutations and an activating mutation of LPAR1 in a patient with metastatic neuroblastoma.
|
genomic_alterations
|
{
"id": 1902,
"name": "LPAR1",
"pos": [
105,
5
]
}
|
{
"id": "C0278694",
"name": "Disseminated neuroblastoma",
"pos": [
129,
24
]
}
|
TL was measured by quantitative PCR in 178 sporadic and 168 hereditary ovarian cases (46 BRCA1, 12 BRCA2, and 110 BRCAX) and compared to TL in 267 controls.
|
NA
|
{
"id": 60500,
"name": "BRCA3",
"pos": [
114,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
43,
8
]
}
|
The expression of MRP1, MRP2, MRP3, MDR1, and MDR3 was investigated by quantitative RT-PCR analyses in paraffin-embedded tissues obtained from 9 cases of HCC, 16 cases of cirrhosis, 10 cases of chronic extrahepatic cholestasis, and 16 cases of normal liver.
|
NA
|
{
"id": 5244,
"name": "ABCB4",
"pos": [
46,
4
]
}
|
{
"id": "C0005398",
"name": "Cholestasis, Extrahepatic",
"pos": [
202,
24
]
}
|
After adjusting for age, gender, body mass index, and polygenic correlations within pedigrees, SNP hcv1137534 was significantly associated with both systolic blood pressure and diastolic blood pressure (DBP) at baseline (unadjusted P=0.009 and P=0.043; respectively) and at 10-year follow-up (P=0.008 and P=0.007; respectively).
|
NA
|
{
"id": 1628,
"name": "DBP",
"pos": [
203,
3
]
}
|
{
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
177,
24
]
}
|
In t(12;13)(p13;q12) AML, ectopic expression of the homeobox gene CDX2 was detected in addition to expression of the ETV6-CDX2 fusion gene, generated by the chromosomal translocation.
|
NA
|
{
"id": 1045,
"name": "CDX2",
"pos": [
122,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
157,
25
]
}
|
Further comparison of their low-FAL tumors showed that AI involving 16q24, 17q22, and 19q13.3 were significantly associated with NT-ADs; whereas those involving 7q31, 8p23.2, 10p14-p15, 13q12.3, and 17p13.1-p13.3 were observed in both.
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
207,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
36,
6
]
}
|
The authors confirm the role of SPECC1L in orofacial cleft pathogenesis in the first animal model of Tessier cleft, providing morphogenetic insight into the mechanisms of normal craniofacial development and oblique facial cleft pathogenesis.
|
NA
|
{
"id": 23384,
"name": "SPECC1L",
"pos": [
32,
7
]
}
|
{
"id": "C3266076",
"name": "Orofacial cleft",
"pos": [
43,
15
]
}
|
These results indicate that a major group of infertile men with meiotic arrest lack BOULE protein and its putative target, CDC25A expression.
|
NA
|
{
"id": 66037,
"name": "BOLL",
"pos": [
84,
5
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
45,
9
]
}
|
We also report that Ahr- and Vav3-deficient mice display hypertension, tachypnea, and sympathoexcitation.
|
NA
|
{
"id": 10451,
"name": "VAV3",
"pos": [
29,
4
]
}
|
{
"id": "C0231835",
"name": "Tachypnea",
"pos": [
71,
9
]
}
|
To examine the involvement of p18 in parathyroid tumorigenesis, we analyzed 25 parathyroid adenomas for mutations of the p18 coding exons by single strand conformational polymorphism analysis and sequencing.
|
biomarker
|
{
"id": 7329,
"name": "UBE2I",
"pos": [
30,
3
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
49,
13
]
}
|
Our study demonstrates somatic disruption of both alleles of the ATM gene by deletion or point mutation and thus its pathogenic role in sporadic B-cell lineage tumors.
|
NA
|
{
"id": 472,
"name": "ATM",
"pos": [
65,
8
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
136,
8
]
}
|
TIL was usually mild or scarce.
|
NA
|
{
"id": 7096,
"name": "TLR1",
"pos": [
0,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
16,
4
]
}
|
The induction of IL-6 and IL-8 clearly depended on NF-kappaB in both fibroblasts and chondrosarcoma cells, irrespective of stimulus, but IkappaBalpha overexpression had little effect on IL-11.
|
NA
|
{
"id": 4792,
"name": "NFKBIA",
"pos": [
137,
12
]
}
|
{
"id": "C0008479",
"name": "Chondrosarcoma",
"pos": [
85,
14
]
}
|
The TP53 polymorphisms were also investigated in 112 women of French Canadian descent with no personal history of cancer.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
4,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
114,
6
]
}
|
CONCLUSION: Genetic variation in NPC1L1 is associated with a reduction in risk of IVD, with a corresponding reduction in LDL cholesterol, but with a concomitant increased risk of gallstone disease.
|
NA
|
{
"id": 3712,
"name": "IVD",
"pos": [
82,
3
]
}
|
{
"id": "C0008350",
"name": "Cholelithiasis",
"pos": [
179,
17
]
}
|
These results suggest a role for MIF in the inflammatory skin disease psoriasis.
|
NA
|
{
"id": 268,
"name": "AMH",
"pos": [
33,
3
]
}
|
{
"id": "C3875321",
"name": "Inflammatory dermatosis",
"pos": [
44,
25
]
}
|
Lack of HRK immunoreactivity was significantly correlated with a low apoptotic index, whereas a strong association between methylation status and apoptosis was found only in secondary glioblastomas.
|
NA
|
{
"id": 8739,
"name": "HRK",
"pos": [
8,
3
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
174,
9
]
}
|
VEGF and EGF play a major role in non-small-cell lung cancer (NSCLC) tumor angiogenesis and aggressiveness.
|
NA
|
{
"id": 7422,
"name": "VEGFA",
"pos": [
0,
4
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
92,
14
]
}
|
Individuals carrying an FMR1 expansion between 55 and 200 CGG repeats, are at risk of developing the Fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by cerebellar gait ataxia, intentional tremor, neuropathy, parkinsonism, cognitive decline, and psychological disorders, such as anxiety and depression.
|
genomic_alterations
|
{
"id": 2332,
"name": "FMR1",
"pos": [
24,
4
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
167,
26
]
}
|
Blocking autophagy improves the anti-tumor activity of afatinib in lung adenocarcinoma with activating EGFR mutations in vitro and in vivo.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
103,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
67,
19
]
}
|
The GGA haplotype was associated with an increased risk of diabetes as compared with the ACG haplotype (HR 1.26, 95% CI 1.04-1.42, p = 0.02).
|
NA
|
{
"id": 139818,
"name": "DOCK11",
"pos": [
89,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
59,
8
]
}
|
Recently, the peroxisome proliferator-activated receptor γ agonist pioglitazone was reported to act synergistically with imatinib, targeting the residual chronic myeloid leukemia stem cell pool.
|
biomarker
|
{
"id": 5468,
"name": "PPARG",
"pos": [
14,
44
]
}
|
{
"id": "C0280141",
"name": "Acute Undifferentiated Leukemia",
"pos": [
154,
34
]
}
|
17 Single Nucleotide Polymorphisms (SNPs) markers located within SNCA gene as well as the 16 SNP markers within LRRK2 gene were chosen for genotyping and evaluated their haplotype structure in a cohort of sporadic PD patients and control individuals.
|
NA
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
112,
10
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
205,
8
]
}
|
The increased expression of certain versican isoforms in the extracellular matrix (ECM) plays a role in tumour cell growth, adhesion and migration.
|
NA
|
{
"id": 22915,
"name": "MMRN1",
"pos": [
83,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
124,
8
]
}
|
We have demonstrated that the addition of recombinant adenovirus-expressing human Flt3 ligand (Adeno-Flt3L) after radio-inducible suicide gene therapy induced a Th1-biased, immune response and enhanced tumor control in an ectopic model of HCC.
|
NA
|
{
"id": 2323,
"name": "FLT3LG",
"pos": [
101,
5
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
54,
10
]
}
|
Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations.
|
NA
|
{
"id": 6194,
"name": "RPS6",
"pos": [
85,
20
]
}
|
{
"id": "C0008479",
"name": "Chondrosarcoma",
"pos": [
51,
14
]
}
|
In this study, we sought to test the hypothesis that mutations in the PEPCK gene promoter may impair the ability of insulin to suppress hepatic glucose production, thereby contributing to both the insulin resistance and increased rate of gluconeogenesis characteristic of NIDDM.
|
NA
|
{
"id": 5106,
"name": "PCK2",
"pos": [
70,
5
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
197,
18
]
}
|
GLI2-expressing cell lines were characterized by the loss of M-MITF-dependent melanocytic differentiation markers and reduced pigmentation.
|
NA
|
{
"id": 4286,
"name": "MITF",
"pos": [
63,
4
]
}
|
{
"id": "C0031911",
"name": "Pigmentation",
"pos": [
126,
12
]
}
|
The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partner genes such as AF4/FEL, LTG9/AF9 and LTG19/ENL.
|
NA
|
{
"id": 4298,
"name": "MLLT1",
"pos": [
158,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
94,
13
]
}
|
Here we report homozygous and compound heterozygous mutations in PIEZO1, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema.
|
genomic_alterations
|
{
"id": 9780,
"name": "PIEZO1",
"pos": [
65,
6
]
}
|
{
"id": "C0023521",
"name": "Globoid cell leukodystrophy",
"pos": [
117,
3
]
}
|
Fetuin-A acts as an endogenous ligand of TLR4 to promote lipid-induced insulin resistance.
|
NA
|
{
"id": 7099,
"name": "TLR4",
"pos": [
41,
4
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
71,
18
]
}
|
In the present study, association of the human IL1RN gene polymorphisms with asthma, bronchial hyperresponsiveness and forced expiratory volume in one second/forced vital capacity ratio was tested and the data was stratified by environmental tobacco smoke exposure in order to investigate a gene-smoking interaction.
|
NA
|
{
"id": 3557,
"name": "IL1RN",
"pos": [
47,
10
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
296,
7
]
}
|
We, therefore, investigated mutation within the E2F-4 coding region in 16 primary gastric adenocarcinomas, 12 ulcerative colitis-associated neoplasms, 46 sporadic colorectal carcinomas, 9 endometrial cancers, and 3 prostatic carcinomas.
|
NA
|
{
"id": 1874,
"name": "E2F4",
"pos": [
48,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
154,
8
]
}
|
After induction of generalized tonic-clonic seizures by PTZ there were no differences in mRNA at 24h after seizures, equaling baseline quantities except for GAD1, which was decreased.
|
NA
|
{
"id": 2571,
"name": "GAD1",
"pos": [
157,
4
]
}
|
{
"id": "C0494475",
"name": "Tonic - clonic seizures",
"pos": [
19,
33
]
}
|
EGFR sequence analyses did not reveal activating mutations in tumors from assessable responding patients.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
0,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
62,
6
]
}
|
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
|
NA
|
{
"id": 760,
"name": "CA2",
"pos": [
101,
3
]
}
|
{
"id": "C0751951",
"name": "Central Core Myopathy (disorder)",
"pos": [
142,
20
]
}
|
These data support the premise that ERK1/2 and PKB were differentially regulated during the development of eccentric physiological and pathological cardiac hypertrophy.
|
NA
|
{
"id": 5595,
"name": "MAPK3",
"pos": [
36,
4
]
}
|
{
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
148,
19
]
}
|
Punctured eyes showed less pre-retinal neovascularization at P17 when compared to the non-punctured eyes (p<0.001) although there was no effect on retinal ischaemia.
|
NA
|
{
"id": 729533,
"name": "FAM72A",
"pos": [
61,
3
]
}
|
{
"id": "C0035320",
"name": "Retinal Neovascularization",
"pos": [
31,
26
]
}
|
We also examine the potential of AQP4 as a therapeutic target in edema associated with stroke.
|
NA
|
{
"id": 361,
"name": "AQP4",
"pos": [
33,
4
]
}
|
{
"id": "C0013604",
"name": "Edema",
"pos": [
65,
5
]
}
|
The polymorphisms of genes coding for four human adhesion molecules at six different loci (ICAM-1 exons 2, 4 and 6, E-selectin exon 2, CD36 exon 10, and PECAM exon 3) were studied.
|
NA
|
{
"id": 948,
"name": "CD36",
"pos": [
135,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
49,
8
]
}
|
Furthermore, restoration of Nrf2 function in transformed cells decreased reactive oxygen species and impaired in vivo tumor growth (P = 0.001) by mechanisms that included sensitization to apoptosis, and a decreased hypoxic/angiogenic response through HIF-1α destabilization and VEGFA repression.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
251,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
215,
7
]
}
|
Particularly miR-34a has been revealed to be a direct transcriptional target of p53 which is frequently mutated in epithelial ovarian carcinomas especially in high grade serous cancer.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
80,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
177,
6
]
}
|
These findings suggest that PTPL1 is an important mediator of central cellular processes such as proliferation and invasion.
|
biomarker
|
{
"id": 5783,
"name": "PTPN13",
"pos": [
28,
5
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
115,
8
]
}
|
Its pathogenesis is based on IgG autoantibodies that target the desmosomal cadherins, desmoglein 3 (Dsg3) and desmoglein 1 (Dsg1) and induce intra-epidermal loss of adhesion.
|
NA
|
{
"id": 1830,
"name": "DSG3",
"pos": [
100,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
165,
8
]
}
|
Spotlight on the role of COP1 in tumorigenesis.
|
NA
|
{
"id": 114769,
"name": "CARD16",
"pos": [
25,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
33,
13
]
}
|
On the other hand, inhibition of MAP kinases p38 and JNK, but not MAP kinase kinase (MEK1/2), reduced pVHL upregulation by 30 and 72%, respectively, during hypoxia, supporting a significant role for these signaling pathways.
|
NA
|
{
"id": 5599,
"name": "MAPK8",
"pos": [
53,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
156,
7
]
}
|
In a mouse breast tumor model, the abundance of PUMA and BIM was increased after inactivation of HER2.
|
NA
|
{
"id": 27113,
"name": "BBC3",
"pos": [
48,
4
]
}
|
{
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
11,
12
]
}
|
There may be more common mutations in other genes (such as ATM, HRAS1) that confer a moderate risk of breast cancer, and may account for 5 to 15 per cent of cases.
|
genomic_alterations
|
{
"id": 4893,
"name": "NRAS",
"pos": [
64,
5
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
102,
13
]
}
|
Further studies showed that the CT26 + IR group prominently increased the levels of ALT and AST, liver necrosis, inflammatory infiltration and the expressions of hepatic IL-6, MMP9 and E-selectin compared to those of CT26 group.
|
NA
|
{
"id": 6401,
"name": "SELE",
"pos": [
185,
10
]
}
|
{
"id": "C0151798",
"name": "Hepatic necrosis",
"pos": [
97,
14
]
}
|
However, the relationship between the p66(shc) gene expression levels and coronary artery disease (CAD) in humans remains unknown.
|
NA
|
{
"id": 57459,
"name": "GATAD2B",
"pos": [
39,
3
]
}
|
{
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
75,
23
]
}
|
We therefore studied the expression of UPA, UPAR, IGF2R, ALK5 (TGFBR1), TGFBR2, TGFBR3, ENG, ALK1, TGFB1, TGFB2, and TGFB3 in a series of 14 pancreatic carcinoma cell lines.
|
NA
|
{
"id": 7049,
"name": "TGFBR3",
"pos": [
80,
6
]
}
|
{
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
141,
20
]
}
|
We analyzed GATA4 and NKX2.5 mutations in 16 familial ASD cases, including four probands with atrioventricular conduction disturbance (AV block) and two with pulmonary stenosis (PS), by PCR and direct sequencing, and examined their phenotypes clinically.
|
NA
|
{
"id": 1482,
"name": "NKX2-5",
"pos": [
22,
6
]
}
|
{
"id": "C0034089",
"name": "Pulmonary Valve Stenosis",
"pos": [
158,
18
]
}
|
Cyclooxygenases (COX) 1 and 2 participate in inflammation.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
17,
3
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
45,
12
]
}
|
Progress in 5-HTT gene inactivation studies are also changing views of the relevance of adaptive 5-HT uptake function in brain development and plasticity as well as processes underlying drug dependence and neurodegeneration.
|
NA
|
{
"id": 6532,
"name": "SLC6A4",
"pos": [
12,
5
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
206,
17
]
}
|
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
|
genomic_alterations
|
{
"id": 3914,
"name": "LAMB3",
"pos": [
52,
5
]
}
|
{
"id": "C0079301",
"name": "Junctional Epidermolysis Bullosa",
"pos": [
97,
32
]
}
|
The occurrence of a Ca2+ transient in response to either KCl (25 mM) or capsaicin (500 nM) increased in small neurons isolated from murine L3-L6 DRGs ipsilateral to fibrosarcoma cell tumors.
|
NA
|
{
"id": 760,
"name": "CA2",
"pos": [
20,
3
]
}
|
{
"id": "C0016057",
"name": "Fibrosarcoma",
"pos": [
165,
12
]
}
|
The presence of a BRAF mutation is a strong marker for poor prognosis of colorectal carcinoma (CRC), and can be used as evidence of a sporadic mechanism of mismatch repair deficiency.
|
NA
|
{
"id": 673,
"name": "BRAF",
"pos": [
18,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
134,
8
]
}
|
Combination of carnitine and TRAIL was found to synergistically induce apoptotic cell death through caspase activation, which was blocked by a pan caspase inhibitor, but not by an inhibitor of autophagy or an inhibitor of necrosis.
|
NA
|
{
"id": 8743,
"name": "TNFSF10",
"pos": [
29,
5
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
222,
8
]
}
|
Ablation of COUP-TFII in the mouse uterus causes infertility due to defects in embryo attachment and impaired uterine stromal cell decidualization.
|
NA
|
{
"id": 7026,
"name": "NR2F2",
"pos": [
12,
9
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
49,
11
]
}
|
Several genes were associated with the alcohol-related phenotypes at the genome-wide significance level, with the ankyrin repeat domain 7 gene (ANKRD7) showing the strongest statistical evidence for regular alcohol drinking and suggestive statistical evidence for alcohol consumption.
|
NA
|
{
"id": 56311,
"name": "ANKRD7",
"pos": [
114,
23
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
264,
19
]
}
|
Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis.
|
genomic_alterations
|
{
"id": 2965,
"name": "GTF2H1",
"pos": [
31,
3
]
}
|
{
"id": "C0002736",
"name": "Amyotrophic Lateral Sclerosis",
"pos": [
61,
29
]
}
|
This finding provides new insight into human breast tumours, which may possibly be linked to the glutathione conjugate carrier function of MRP.
|
biomarker
|
{
"id": 65108,
"name": "MARCKSL1",
"pos": [
139,
3
]
}
|
{
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
45,
14
]
}
|
Therefore, we investigated whether the K121Q polymorphism of the PC-1 gene association with insulin sensitivity, insulin levels, and the prevalence of diabetes and hypertension in adult life depends on size at birth in 489 subjects born in Helsinki during 1924-1933.
|
NA
|
{
"id": 5167,
"name": "ENPP1",
"pos": [
65,
4
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
92,
19
]
}
|
Plasma levels of fibrinogen, CRP and IL-6 were determined at baseline and 7 days after vaccination, and genetic polymorphisms in these genes were determined.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
37,
4
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
17,
10
]
}
|
We found relative l-ficolin deficiency to be associated with prematurity, low birthweight and infections.
|
NA
|
{
"id": 2220,
"name": "FCN2",
"pos": [
18,
9
]
}
|
{
"id": "C3714514",
"name": "Infection",
"pos": [
94,
10
]
}
|
Chromogenic in situ hybridization is a reliable method for detecting HER2 gene status in breast cancer: a multicenter study using conventional scoring criteria and the new ASCO/CAP recommendations.
|
biomarker
|
{
"id": 4012,
"name": "LNPEP",
"pos": [
177,
3
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
89,
13
]
}
|
Cardiac hypertrophy and failure induced by transaortic constriction in mice causes marked down-regulation of Hopx expression.
|
NA
|
{
"id": 84525,
"name": "HOPX",
"pos": [
109,
4
]
}
|
{
"id": "C1261287",
"name": "Stenosis",
"pos": [
55,
12
]
}
|
SNPs in or near DNER (smallest P(JMA = )5.00×10(-11)), HLA-DQB1 and HLA-DQA2 (smallest P(JMA = )4.35×10(-9)), and KCNJ2 and SOX9 (smallest P(JMA = )1.28×10(-8)) were associated with FEV(1)/FVC or FEV(1) in meta-analysis models including SNP main effects, smoking main effects, and SNP-by-smoking (ever-smoking or pack-years) interaction.
|
NA
|
{
"id": 3119,
"name": "HLA-DQB1",
"pos": [
55,
8
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
302,
7
]
}
|
Beside these well-known pro-inflammatory functions, active caspase-1 also has anti-inflammatory and protective functions contributing to cell survival, reduced inflammatory cytokine signaling, and improved outcomes in mouse models of burn injury or trauma and shock.
|
NA
|
{
"id": 834,
"name": "CASP1",
"pos": [
59,
9
]
}
|
{
"id": "C0036974",
"name": "Shock",
"pos": [
260,
5
]
}
|
Evaluation of patients for Lynch syndrome includes assessment of age and family cancer history as well as testing for microsatellite instability and alterations in mismatch repair (MMR) genes.
|
genomic_alterations
|
{
"id": 4360,
"name": "MRC1",
"pos": [
181,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
80,
6
]
}
|
The characteristic t(12;16)(q13;p11) chromosomal translocation, which leads to gene fusion that encodes the FUS-CHOP chimeric protein, is associated with human liposarcomas.
|
NA
|
{
"id": 2521,
"name": "FUS",
"pos": [
108,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
37,
25
]
}
|
The mRNA expression of liver SCP2 in 28 hereditary patients, 30 non-hereditary cholesterol gallstone patients and 32 non-gallstone patients was measured by Reverse Transcription Polymerase Chain Reaction (RT-PCR).
|
NA
|
{
"id": 10106,
"name": "CTDSP2",
"pos": [
29,
4
]
}
|
{
"id": "C0947622",
"name": "Cholecystolithiasis",
"pos": [
121,
9
]
}
|
The present study aimed to illustrate differences in characteristics and perception of dyspnea between young atopic adults who have no history of asthma (never-asthmatics) with or without asymptomatic airway hyperresponsiveness (AHR) and those who had childhood asthma and consider themselves to be grown out of the disease (past-asthmatics).
|
NA
|
{
"id": 196,
"name": "AHR",
"pos": [
229,
3
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
109,
6
]
}
|
In vivo genetic profiling and cellular localization of apelin reveals a hypoxia-sensitive, endothelial-centered pathway activated in ischemic heart failure.
|
NA
|
{
"id": 8862,
"name": "APLN",
"pos": [
55,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
72,
7
]
}
|
Here, we characterize four patients with isolated complex II deficiency caused by mutations in SDHA presenting with multisystem mitochondrial disease including Leigh syndrome (LS) and/or leukodystrophy.
|
genomic_alterations
|
{
"id": 6389,
"name": "SDHA",
"pos": [
95,
4
]
}
|
{
"id": "C0751651",
"name": "Mitochondrial Diseases",
"pos": [
128,
21
]
}
|
We studied 163 mild A haemophiliacs, and detected discrepancies in 20% of the patients, most of whom presented higher levels of FVIII:C with the one-stage assay.
|
NA
|
{
"id": 2157,
"name": "F8",
"pos": [
128,
5
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
15,
4
]
}
|
Turcot syndrome is clinically characterized by the occurrence of primary brain tumor and colorectal tumor and has, in previous reports, been shown associated with germline mutations in the genes APC, MLH1, MHS6, and PMS2.
|
genomic_alterations
|
{
"id": 5395,
"name": "PMS2",
"pos": [
216,
4
]
}
|
{
"id": "C0750974",
"name": "Brain Tumor, Primary",
"pos": [
65,
19
]
}
|
These results suggest that the Chk1 gene is a target of genomic instability in MSI-positive colorectal cancers and that the Chk1 framshift mutations might be involved in colorectal tumourigenesis through a defect in response to DNA damage in a subset of sporadic colorectal cancers and HNPCCs.
|
NA
|
{
"id": 1111,
"name": "CHEK1",
"pos": [
124,
4
]
}
|
{
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
56,
19
]
}
|
We determined the expression patterns of matrix-metalloproteinases (MMP)-1, -2, and -3 and of the tissue inhibitors of metalloproteinases (TIMP)-1 and -2 by in situ hybridization with isotopically labeled RNA probes in normal breast tissue (n=6), fibrocystic disease (n=20), five cases of which contained radial scars, lobular carcinoma in situ (CLIS; n=5), ductal carcinoma in situ (DCIS; n=9) and invasive carcinomas (n=24).
|
NA
|
{
"id": 7076,
"name": "TIMP1",
"pos": [
139,
4
]
}
|
{
"id": "C0007124",
"name": "Noninfiltrating Intraductal Carcinoma",
"pos": [
358,
24
]
}
|
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