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dict |
|---|---|---|---|
Phenome-wide analysis showed that functional variants of SLC22A24 are associated with human disease such as cardiovascular diseases and acne, which have been linked to dysregulated steroid metabolism.
|
genomic_alterations
|
{
"id": 283238,
"name": "SLC22A24",
"pos": [
57,
8
]
}
|
{
"id": "C0007222",
"name": "Cardiovascular Diseases",
"pos": [
108,
23
]
}
|
These results suggest that an imbalanced striatal dopaminergic/cholinergic signaling occurs early in DYT1 dystonia and persists along development, representing a susceptibility factor for symptom generation.
|
genomic_alterations
|
{
"id": 1861,
"name": "TOR1A",
"pos": [
101,
4
]
}
|
{
"id": "C0013421",
"name": "Dystonia",
"pos": [
106,
8
]
}
|
Administration of VEGF before BMT in newborn mice with a neurodegenerative LSD, globoid-cell leukodystrophy, resulted in a significant increase in life span compared to affected animals that were injected with saline before BMT.
|
NA
|
{
"id": 1776,
"name": "DNASE1L3",
"pos": [
75,
3
]
}
|
{
"id": "C0023520",
"name": "Leukodystrophy",
"pos": [
93,
14
]
}
|
The results are briefly compared with those reported for DBS in DYT1 dystonia (Oppenheim dystonia), which is caused by the DYT1 gene.
|
genomic_alterations
|
{
"id": 1861,
"name": "TOR1A",
"pos": [
64,
4
]
}
|
{
"id": "C3888090",
"name": "Early onset torsion dystonia",
"pos": [
79,
18
]
}
|
To evaluate the possible roles of the Akt/PKB-mTOR-p70S6K-S6 and cap-dependent translation (eIF4G) pathways in the pathogenesis of tuberous sclerosis complex (TSC)-associated cortical tubers and focal cortical dysplasia (FCD), we performed qualitative and semiquantitative immunohistochemical evaluation on surgically resected corticectomy specimens to detect phosphorylated molecules as activated downstream targets of the signaling pathways.
|
NA
|
{
"id": 207,
"name": "AKT1",
"pos": [
42,
3
]
}
|
{
"id": "C1968959",
"name": "Cortical tubers",
"pos": [
175,
15
]
}
|
Familial British dementia (FBD) is an early onset inherited disorder that, like familial Alzheimer's disease (FAD), is characterized by progressive dementia, amyloid deposition in the brain, and neurofibrillary degeneration of limbic neurons.
|
NA
|
{
"id": 675,
"name": "BRCA2",
"pos": [
110,
3
]
}
|
{
"id": "C0085400",
"name": "Neurofibrillary degeneration (morphologic abnormality)",
"pos": [
195,
28
]
}
|
Heterozygous GCK mutations cause impaired glucokinase activity resulting in stable, mild hyperglycaemia that rarely requires treatment.
|
NA
|
{
"id": 2645,
"name": "GCK",
"pos": [
13,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
84,
4
]
}
|
We analyzed allele size distribution of the polymorphic CA repeat upstream of the IGF-I gene in 412 Israeli Jewish women: 268 women with breast cancer (212 sporadic and 56 carriers of either a BRCA1 or BRCA2 mutation), and 144 controls.
|
NA
|
{
"id": 3479,
"name": "IGF1",
"pos": [
82,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
156,
8
]
}
|
The epigenetic regulators CBP and p300 facilitate leukemogenesis and represent therapeutic targets in acute myeloid leukemia.
|
biomarker
|
{
"id": 55824,
"name": "PAG1",
"pos": [
26,
3
]
}
|
{
"id": "C0598766",
"name": "Leukemogenesis",
"pos": [
50,
14
]
}
|
A novel heterozygous acceptor splice site mutation of EXT1 results in HME that is associated with a low peak bone mass, indicating a possible additional role for EXT1 in bone biology and in regulating BMD.
|
NA
|
{
"id": 4321,
"name": "MMP12",
"pos": [
70,
3
]
}
|
{
"id": "C0005938",
"name": "Bone Density",
"pos": [
109,
9
]
}
|
This study shows that aPBMC-CM induces a rapid activation of RhoA, Rac1, and Cdc42 activity in HK2 cells from 15 min to 48 h. Moreover, infection with adenovirus expressing constitutively active RhoA, Rac1, and Cdc42 significantly increased the expression of EDA and downregulated expression of E-cadherin and K19.
|
NA
|
{
"id": 3099,
"name": "HK2",
"pos": [
95,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
151,
10
]
}
|
Consequently, factor V Leiden homozygosity could, via unrecognized repeated minor pulmonary thromboemboli, cause chronic pulmonary disease.
|
NA
|
{
"id": 2153,
"name": "F5",
"pos": [
14,
15
]
}
|
{
"id": "C0024115",
"name": "Lung diseases",
"pos": [
121,
17
]
}
|
Furthermore, NaHS attenuated the increase in the I/R-induced (1) phosphorylation of p38 mitogen-activated protein kinase and Jun N-terminal kinase, (2) translocation from the cytosol to the nucleus of the p65 subunit of nuclear factor-kappaB, (3) intercellular adhesion molecule 1 expression, (4) polymorphonuclear leukocyte accumulation, (5) myeloperoxidase activity, (6) malondialdehyde levels, and (7) nitrotyrosine staining determined in the AAR obtained from rat hearts subjected to regional myocardial I/R.
|
NA
|
{
"id": 64689,
"name": "GORASP1",
"pos": [
205,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
152,
13
]
}
|
Correlation of survival and EGFR mutation with predominant histologic subtype according to the new lung adenocarcinoma classification in stage IB patients.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
28,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
99,
19
]
}
|
In addition, plasma Sepp1 concentration falls in selenium deficiency and, therefore, it can be used as an index of selenium nutritional status.
|
biomarker
|
{
"id": 6414,
"name": "SELENOP",
"pos": [
20,
5
]
}
|
{
"id": "C0238421",
"name": "Selenium deficiency",
"pos": [
49,
19
]
}
|
The DNA repair gene X-ray cross-complementary group 4 (XRCC4), an important caretaker of the overall genome stability, is thought to play a major role in human tumorigenesis.
|
NA
|
{
"id": 7518,
"name": "XRCC4",
"pos": [
55,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
160,
13
]
}
|
Associations of polymorphisms in the cytokine genes IL1β (rs16944), IL6 (rs1800795), IL12b (rs3212227) and growth factor VEGFA (rs2010963) with anthracosilicosis in coal miners in Russia and related genotoxic effects.
|
genomic_alterations
|
{
"id": 3593,
"name": "IL12B",
"pos": [
85,
5
]
}
|
{
"id": "C0003164",
"name": "Anthracosilicosis",
"pos": [
144,
17
]
}
|
Furthermore, we show for the first time in a helminth infection that the CD4+ memory T cell proportions decline following curative anti-helminthic treatment despite increased CD4+ memory cell replication.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
175,
3
]
}
|
{
"id": "C0018889",
"name": "Helminthiasis",
"pos": [
45,
18
]
}
|
Non-CpG G:C > A:T transitions in the 35 codons are rare in familial cancers (p53, BRCA1, or BRCA2-related), but frequent in sporadic cancers in organs where Li-Fraumeni-related carcinogenesis is common e.g.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
82,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
124,
8
]
}
|
TNF-α/CD4(+) T cell count, TNF-α/CD8(+) T cell count and IFN-γ/proviral load positively correlated in asymptomatic patients.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
57,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
102,
12
]
}
|
Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).
|
genomic_alterations
|
{
"id": 4292,
"name": "MLH1",
"pos": [
120,
5
]
}
|
{
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
97,
17
]
}
|
Here we aimed to characterize the expression status of TRIM59 in gefitinib-resistant EGFR mutant lung adenocarcinoma cells and elucidate its mechanism underlying the drug resistance.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
85,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
97,
19
]
}
|
Catalase (CAT) -262 C/T promoter (rs1001179), cathepsin D (CTSD) exon 2 (rs17571), and apolipoprotein E (APOE) gene polymorphisms were studied in 242 patients with sporadic Alzheimer's disease (AD) and 421 unrelated age-, sex-, and ethnically matched control subjects from Apulia (Southern Italy).
|
NA
|
{
"id": 1509,
"name": "CTSD",
"pos": [
59,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
164,
8
]
}
|
The immunoreactivity for filaggrin was significantly more intense in the oral mucosa in the patients with OLP/OLL compared with healthy controls (P = 0.000025).
|
biomarker
|
{
"id": 2312,
"name": "FLG",
"pos": [
25,
9
]
}
|
{
"id": "C0206139",
"name": "Lichen Planus, Oral",
"pos": [
106,
3
]
}
|
We searched for genetic variants in the promoter region and 12 exons (including UTR ends) of the VGLUT2 gene using direct sequencing in a sample of Han Chinese schizophrenic patients (n=375) and non-psychotic controls (n=366) from Taiwan, and conducted a case-control association study.
|
NA
|
{
"id": 57084,
"name": "SLC17A6",
"pos": [
97,
6
]
}
|
{
"id": "C0033975",
"name": "Psychotic Disorders",
"pos": [
199,
9
]
}
|
Silencing of NOX4 by siRNA caused reduction of ROS levels under both normoxic and hypoxic (24 h) conditions and suppressed the significant hypoxic-induced ROS increase.
|
NA
|
{
"id": 50507,
"name": "NOX4",
"pos": [
13,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
139,
7
]
}
|
The same two DNA segments are also included in the distal p13-p14.1 deletion of another patient, who has aniridia, Wilms' tumor, and hypogonadism, but they are not included in the p12-p13 deletion of a third patient, who does not have aniridia but has had a Wilms' tumor.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
180,
3
]
}
|
{
"id": "C0020619",
"name": "Hypogonadism",
"pos": [
133,
12
]
}
|
Polymorphisms in the <i>GNAT3, SLC2A4, TAS1R1</i> and <i>TAS1R2</i> genes were associated with variation in TT and PT for sweet taste as well as sweet food intake.
|
biomarker
|
{
"id": 346562,
"name": "GNAT3",
"pos": [
30,
5
]
}
|
{
"id": "C0858600",
"name": "Taste sweet",
"pos": [
146,
11
]
}
|
We have recently identified a minimally deleted region encompassing parts of two adjacent genes, termed LEU1 and LEU2 (leukemia-associated genes 1 and 2), and several additional transcripts.
|
biomarker
|
{
"id": 921,
"name": "CD5",
"pos": [
104,
4
]
}
|
{
"id": "C1332977",
"name": "Childhood Leukemia",
"pos": [
119,
8
]
}
|
Further, the roles of ANXA2 in chemoresistance for NB and the underlying mechanisms were studied by using short hairpin RNA (shRNA) in vitro and vivo.
|
biomarker
|
{
"id": 302,
"name": "ANXA2",
"pos": [
22,
5
]
}
|
{
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
51,
2
]
}
|
We investigated microsatellite instability (MSI) and status of mismatch repair (MMR) gene product, MLH1, MSH2 and MSH6, in 63 sporadic endometrial cancers coexisting with colorectal or breast cancer.
|
NA
|
{
"id": 4292,
"name": "MLH1",
"pos": [
99,
4
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
16,
26
]
}
|
We also found that Skp2 expression is cell adhesion-dependent in normal human mammary epithelial cells but not in breast cancer cells and that an inhibition of Skp2 induces a decrease of adhesion-independent growth in both ER-positive and ER-negative cancer cells.
|
NA
|
{
"id": 6502,
"name": "SKP2",
"pos": [
160,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
187,
8
]
}
|
Most MYBPC3 mutations may cause haploinsufficiency and with it they may cause a primary increase in calcium sensitivity which is potentially able to explain major features observed in HCM patients such as the hypercontractile phenotype and the well known secondary effects such as myofibrillar disarray, fibrosis, myocardial hypertrophy and remodelling including arrhythmogenesis.
|
NA
|
{
"id": 4607,
"name": "MYBPC3",
"pos": [
5,
6
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
325,
11
]
}
|
It is hypothesized that SDT resets abnormal clock gene machinery, that relapse of depressive symptoms during recovery night sleep reactivates abnormal clock gene machinery, and that supplemental chronotherapies and medications can block relapse and help stabilize circadian-related improvement.
|
biomarker
|
{
"id": 9575,
"name": "CLOCK",
"pos": [
151,
5
]
}
|
{
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
82,
19
]
}
|
These cells were also found at the invasion front of HCC and around the necrotic cancer tissues.
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
53,
3
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
72,
8
]
}
|
In addition to increased H3K27me3, we found that the EZH2GOF DLBCL cells overexpress another chemotherapy resistance factor - B-lymphoma and BAL-associated protein (BBAP).
|
NA
|
{
"id": 151636,
"name": "DTX3L",
"pos": [
165,
4
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
128,
8
]
}
|
These findings suggest that piebaldism may occasionally include CALM and intertriginous freckling, which may create diagnostic confusion especially in the absence of a family history of piebaldism.
|
NA
|
{
"id": 8301,
"name": "PICALM",
"pos": [
64,
4
]
}
|
{
"id": "C0009676",
"name": "Confusion",
"pos": [
127,
9
]
}
|
Phospholipase A2 (PLA2) is a family of enzymes that play different role(s) in inflammation, but their importance in seasonal allergic rhinitis (SAR) has not been clarified.
|
NA
|
{
"id": 5319,
"name": "PLA2G1B",
"pos": [
18,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
78,
12
]
}
|
An established canine double-hemorrhage model of SAH was used by injecting autologous arterial blood into the cisterna magna on day 0 and day 2.
|
NA
|
{
"id": 6296,
"name": "ACSM3",
"pos": [
49,
3
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
29,
10
]
}
|
Consistent with strong tendon expression, Adamtsl2 conditional deletion in limb mesenchyme using Prx1-Cre led to tendon anomalies, albeit with normal collagen fibrils, and distal limb shortening, providing a mouse model for geleophysic dysplasia.
|
biomarker
|
{
"id": 5396,
"name": "PRRX1",
"pos": [
97,
4
]
}
|
{
"id": "C3489726",
"name": "Geleophysic dysplasia",
"pos": [
224,
21
]
}
|
When exposed to hypoxia, infected cells failed to show HIF-1alpha and CXCR4 upregulation.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
55,
10
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
16,
7
]
}
|
MDR1 gene polymorphism correlated with pathological characteristics and prognosis in patients with primary hepatocellular carcinoma receiving interventional therapy.
|
genomic_alterations
|
{
"id": 23158,
"name": "TBC1D9",
"pos": [
0,
4
]
}
|
{
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
107,
24
]
}
|
The first androgen receptor mutation in prostate cancer was detected in the tumour cell line LNCaP.
|
genomic_alterations
|
{
"id": 367,
"name": "AR",
"pos": [
10,
17
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
40,
15
]
}
|
Since EMT response in cancer cells can affect metastasis, we also performed a scratch assay and Western blot assay to show the migration ability caused by E2, BPA, or NP.
|
NA
|
{
"id": 667,
"name": "DST",
"pos": [
159,
3
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
46,
10
]
}
|
The beta2- and beta3-adrenoceptor polymorphisms are associated with obesity and hypertension.
|
NA
|
{
"id": 27319,
"name": "BHLHE22",
"pos": [
15,
5
]
}
|
{
"id": "C0028754",
"name": "Obesity",
"pos": [
68,
7
]
}
|
ACE2 is upregulated in vascular diseases, and ACE2 deficiency exacerbates Ang II-mediated vascular remodeling driven by increased reactive oxygen species and vascular smooth muscle cell apoptosis.
|
NA
|
{
"id": 59272,
"name": "ACE2",
"pos": [
46,
4
]
}
|
{
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
90,
19
]
}
|
KA (20 mg/kg) determined more severe and prolonged generalized seizures in En2(-/-) mice, when compared to WT animals.
|
NA
|
{
"id": 2020,
"name": "EN2",
"pos": [
75,
3
]
}
|
{
"id": "C0234533",
"name": "Generalized seizures",
"pos": [
51,
20
]
}
|
Also FLG variants interacted with eczema and increased the risk of subsequent allergic sensitization, which, was limited to the younger age.
|
NA
|
{
"id": 2260,
"name": "FGFR1",
"pos": [
5,
3
]
}
|
{
"id": "C0013595",
"name": "Eczema",
"pos": [
34,
6
]
}
|
Functional assay of type I interferon in systemic lupus erythematosus plasma and association with anti-RNA binding protein autoantibodies.
|
NA
|
{
"id": 56902,
"name": "PNO1",
"pos": [
103,
19
]
}
|
{
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
41,
28
]
}
|
DR4 was constantly expressed in gastric carcinoma, but not in non-neoplastic gastric epithelium in immunohistochemistry.
|
NA
|
{
"id": 8797,
"name": "TNFRSF10A",
"pos": [
0,
3
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
62,
14
]
}
|
G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations.
|
genomic_alterations
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
80,
5
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
94,
2
]
}
|
Only 3 TNFRSF1A variants were found in patients with sporadic TRAPS (4 of 176 patients).
|
NA
|
{
"id": 7132,
"name": "TNFRSF1A",
"pos": [
7,
8
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
53,
8
]
}
|
This study was to identify prognostic subgroups of colon adenocarcinoma by combined analysis of synuclein-gamma (SNCG), a human homologue of piwi (Hiwi), phosphatase of regenerating liver-3 (PRL-3), arrest-defective protein 1, homolog A (ARD1) and clinicopathologic features in 225 colon adenocarcinoma specimens.
|
NA
|
{
"id": 9271,
"name": "PIWIL1",
"pos": [
147,
4
]
}
|
{
"id": "C0338106",
"name": "Adenocarcinoma of colon",
"pos": [
282,
20
]
}
|
TNF-alpha, TGF-beta1, IL-10, IL-6, gene polymorphisms in latent autoimmune diabetes of adults (LADA) and type 2 diabetes mellitus.
|
NA
|
{
"id": 3586,
"name": "IL10",
"pos": [
22,
5
]
}
|
{
"id": "C1739108",
"name": "Latent Autoimmune Diabetes in Adults",
"pos": [
57,
36
]
}
|
The authors reported a mutation, P1158S, of the human skeletal muscle sodium channel gene (SCN4A) in a family with cold-induced hypokalemic periodic paralysis (hypoKPP) and myotonia.
|
NA
|
{
"id": 6329,
"name": "SCN4A",
"pos": [
91,
5
]
}
|
{
"id": "C0009443",
"name": "Common Cold",
"pos": [
115,
4
]
}
|
Evaluation of antiglypican-3 therapy as a promising target for amelioration of hepatic tissue damage in hepatocellular carcinoma.
|
therapeutic
|
{
"id": 2719,
"name": "GPC3",
"pos": [
18,
10
]
}
|
{
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
104,
24
]
}
|
Our data suggest that dominant-negative p53 mutants accelerate development and/or growth of glioblastoma anlagen.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
40,
3
]
}
|
{
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
92,
12
]
}
|
In contrast, the ABO locus is stronger associated with MI than with CAD, but the underlying mechanisms are unknown.
|
genomic_alterations
|
{
"id": 28,
"name": "ABO",
"pos": [
17,
3
]
}
|
{
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
55,
2
]
}
|
Taken together, hypoxia-induced bFGF gene expression is mediated through the stress-activated protein kinase (SAPK) signal transduction pathway.
|
NA
|
{
"id": 5601,
"name": "MAPK9",
"pos": [
110,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
16,
7
]
}
|
We have developed gold nanorods functionalized with an engineered peptide capable of selective recognition and eradication of GBM-CSCs via heat generation by nanorods upon NIR irradiation.
|
biomarker
|
{
"id": 26155,
"name": "NOC2L",
"pos": [
172,
3
]
}
|
{
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
126,
3
]
}
|
This retrospective review of more than 36,000 patients with CRC showed that early-onset patients were more likely to have microsatellite instability (P = .038), synchronous metastatic disease (P = .009), primary tumors in the distal colon or rectum (P < .0001), and fewer BRAF V600 mutations (P < .001) in comparison with patients 50 years old or older.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
275,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
212,
6
]
}
|
Twenty-three single nucleotide polymorphisms (SNPs) in the LKB1 pathway were investigated in 782 patients with NSCLC who underwent curative surgery.
|
genomic_alterations
|
{
"id": 6794,
"name": "STK11",
"pos": [
59,
4
]
}
|
{
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
111,
5
]
}
|
Study subjects (especially non-smoking or lung adenocarcinoma patients) with higher tumor CYP2A13 levels were younger.
|
NA
|
{
"id": 1553,
"name": "CYP2A13",
"pos": [
90,
7
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
31,
7
]
}
|
Positive TUNEL staining and MIB1/Ki-67 IR present in 3.01 +/- 1.27 per cent of the nuclei (controls: 0 per cent, P < or = 0.002) localized to the same plaque compartments as p53 IR and MDM2 IR.
|
NA
|
{
"id": 4193,
"name": "MDM2",
"pos": [
185,
4
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
151,
6
]
}
|
TNF-alpha stimulates monocyte adhesion to glomerular mesangial cells. The role of intercellular adhesion molecule-1 gene expression and protein kinases.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
0,
9
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
30,
8
]
}
|
Eight obesity-related SNPs in the FTO, MAP2K5, NEGR1, FLJ35779, ETV5, CADM2, and NUDT3 genes were nominally significantly associated with hair color among 5,876 individuals of European ancestry.
|
NA
|
{
"id": 11165,
"name": "NUDT3",
"pos": [
81,
5
]
}
|
{
"id": "C0018498",
"name": "Hair Color",
"pos": [
138,
10
]
}
|
Here, we examined the associations of 16 single nucleotide polymorphisms (SNPs) from DNMT1 (rs2114724, rs2228611, rs2228612, rs8101866, rs16999593), DNMT2 (rs11695471, rs11254413), DNMT3A (rs1550117, rs11887120, rs13420827, rs13428812, rs6733301), DNMT3B (rs2424908, rs2424913, rs6087990) and DNMT3L (rs113593938) with GC in the Southern Chinese population.
|
genomic_alterations
|
{
"id": 1789,
"name": "DNMT3B",
"pos": [
248,
6
]
}
|
{
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
319,
2
]
}
|
Molecular characterization of the response to chemotherapy in conventional osteosarcomas: predictive value of HSD17B10 and IFITM2.
|
biomarker
|
{
"id": 3028,
"name": "HSD17B10",
"pos": [
110,
8
]
}
|
{
"id": "C0029463",
"name": "Osteosarcoma",
"pos": [
75,
13
]
}
|
Using real-time quantitative reverse transcriptase-polymerase chain reaction ([q]RT-PCR), the authors examined 36 samples (30 melanomas, 4 benign nevi, and 2 reactive lymph nodes) for the expression of 20 melanoma-related genes that function in cell growth and differentiation (epidermal growth factor receptor [EGFR], WNT5A, BRAF, FOS, JUN, MATP, and TMP1), cell proliferation (KI-67, TOP2A, BUB1, BIRC5, and STK6), melanoma progression (CD63, MAGEA3, and GALGT), and melanin synthesis (TYR, MLANA, SILV, PAX3, and MITF).
|
NA
|
{
"id": 6490,
"name": "PMEL",
"pos": [
500,
4
]
}
|
{
"id": "C0027960",
"name": "Nevus",
"pos": [
146,
4
]
}
|
Thus, structural abnormalities in type I procollagen prevent this molecule from being secreted normally, resulting in an anomalously low ratio of type I procollagen to other extracellular matrix molecules.
|
NA
|
{
"id": 1278,
"name": "COL1A2",
"pos": [
146,
18
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
17,
13
]
}
|
To assess the physiological consequence and clinical significance of gene promoter methylation in gastric epithelia, our laboratory has studied the methylation status of tumor suppressor and tumor-related genes, including APC, DAP-kinase, DCC, E-cadherin, GSTP1, hMLH1, p16, PTEN, RASSF1A, RUNX3 and TSLC1, in neoplastic and non-neoplastic gastric epithelia.
|
NA
|
{
"id": 11186,
"name": "RASSF1",
"pos": [
281,
7
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
325,
14
]
}
|
Thus, there was a significant increase in the level of CRP (up to +79%; P = 0.007) and bone resorption markers (up to +32%; P = 0.017) with a decreasing number (from four to one) of IL-6 protective alleles -572G and -174C.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
55,
3
]
}
|
{
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
87,
15
]
}
|
The aim of this study was to investigate the association of estimated CRF ( eCRF ) with the risk of first acute myocardial infarction ( AMI ).
|
genomic_alterations
|
{
"id": 1392,
"name": "CRH",
"pos": [
70,
3
]
}
|
{
"id": "C0155626",
"name": "Acute myocardial infarction",
"pos": [
106,
27
]
}
|
On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD.
|
NA
|
{
"id": 3908,
"name": "LAMA2",
"pos": [
194,
7
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
135,
8
]
}
|
The combined effects of COC use, for 15 years and above, and ACE I/D polymorphism increased the risk of all strokes by more than eight times, and the risk of hemorrhagic stroke by more than 15 times.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
61,
3
]
}
|
{
"id": "C0553692",
"name": "Brain hemorrhage",
"pos": [
158,
18
]
}
|
UPase gene expression was not correlated with dThdPase gene expression (regression coefficient R = 0.032).
|
NA
|
{
"id": 7378,
"name": "UPP1",
"pos": [
0,
5
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
72,
10
]
}
|
The interaction of chemokine ligand 25 (CCL25) with chemokine receptor 9 (CCR9) is involved in gut-specific migration of leukocytes and induces regulatory T cells (Tregs) to migrate to the intestine in chronic ileitis.
|
NA
|
{
"id": 6370,
"name": "CCL25",
"pos": [
40,
5
]
}
|
{
"id": "C0020877",
"name": "Ileitis",
"pos": [
210,
7
]
}
|
Pleomorphic lobular carcinoma exhibited high mutation rate of PIK3CA (30 %), TP53 (22 %), and CDH1 (41 %) and also presented mutations in PYGM, a gene involved in glycogen metabolism, in 8 out of 27 samples (30 %).
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
77,
4
]
}
|
{
"id": "C0206692",
"name": "Carcinoma, Lobular",
"pos": [
12,
17
]
}
|
JNK inhibitor II blocked VES-induced Bax conformational change, indicating a role for JNK in Bax translocation to the mitochondria.
|
NA
|
{
"id": 5599,
"name": "MAPK8",
"pos": [
86,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
97,
13
]
}
|
Familial ALS with a novel Leu126Ser mutation in the SOD1 gene showed mild clinical features and lack of upper motor neuron signs.
|
genomic_alterations
|
{
"id": 6647,
"name": "SOD1",
"pos": [
52,
4
]
}
|
{
"id": "C0749870",
"name": "Upper motor neuron signs",
"pos": [
104,
24
]
}
|
Among the genes participating in the cascade of signal transfer in cells activated by MLT via melatonin receptors, we found encoding genes (GNA11, OXTR, TPH1) only for differentiating stage III - IV of CRC.
|
biomarker
|
{
"id": 7166,
"name": "TPH1",
"pos": [
153,
4
]
}
|
{
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
202,
3
]
}
|
The effects of glucosamine and PUGNAc on cellular viability were associated with reduced calcineurin activation as measured by translocation of nuclear factor of activated T cells, suggesting that increased O-GlcNAc levels may attenuate I/R induced increase in cytosolic Ca(2+).
|
NA
|
{
"id": 8473,
"name": "OGT",
"pos": [
207,
8
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
127,
13
]
}
|
Molecular analysis of the IT15 gene is extremely important in sporadic cases of Huntington's disease, providing correct diagnosis of the disorder and facilitating genetic counselling to the family members.
|
NA
|
{
"id": 3064,
"name": "HTT",
"pos": [
26,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
62,
8
]
}
|
Mutation in SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4) was only found in the neuroendocrine carcinoma component.
|
NA
|
{
"id": 6594,
"name": "SMARCA1",
"pos": [
12,
3
]
}
|
{
"id": "C0206695",
"name": "Carcinoma, Neuroendocrine",
"pos": [
142,
24
]
}
|
The t(11;19)(q23;p13.1) translocation is thought to play an important role in pathogenesis of myeloid leukemias in older patients.
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
17,
3
]
}
|
{
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
94,
17
]
}
|
PCR differential display-based identification of regulator of G protein signaling 10 as the target gene in human colon cancer cells induced by black tea polyphenol theaflavin monogallate.
|
NA
|
{
"id": 6001,
"name": "RGS10",
"pos": [
49,
35
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
113,
12
]
}
|
Glucose tolerance, insulin sensitivity and insulin release in European non-diabetic carriers of a polymorphism upstream of CDKN2A and CDKN2B.
|
NA
|
{
"id": 1030,
"name": "CDKN2B",
"pos": [
134,
6
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
19,
19
]
}
|
When added to serum from a patient with apoC-II deficiency, it restored normal levels of LPL-induced lipolysis and also enhanced lipolysis in serum from patients with type IV and V hypertriglyceridemia.
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
89,
3
]
}
|
{
"id": "C0020557",
"name": "Hypertriglyceridemia",
"pos": [
181,
20
]
}
|
Human immortalized Epstein-Barr virus (EBV) lymphoblastoids cells line (LCLs) from a 26-year- old male affected by an adult form of myotonic dystrophy type 1 (DM1) disease and carrying 200 CTG repeats mutation in the blood was used to generate induced pluripotent stem cells (iPSCs) using the Sendai virus expressing KLF4, OCT4, SOX2 and C-MYC.
|
genomic_alterations
|
{
"id": 4609,
"name": "MYC",
"pos": [
338,
5
]
}
|
{
"id": "C3250443",
"name": "MYOTONIC DYSTROPHY 1",
"pos": [
159,
3
]
}
|
We found the activity of protein phosphatase 2A (PP2A), a human tumor suppressor whose dysfunction contributes to malignant cell behavior, was significantly decreased in AML subgroups harboring C-KIT/D816V and AML cell line Kasumi-1 bearing C-KIT/N822K mutation.
|
genomic_alterations
|
{
"id": 5524,
"name": "PTPA",
"pos": [
49,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
64,
5
]
}
|
Targeted sequencing of ATP1A3 should be considered in any patient presenting with cerebellar ataxia triggered by febrile illness, or pregnancy and delivery, especially in the presence of sensorineural hearing loss, optic atrophy, pes cavus, or early childhood history of acute encephalopathic ataxia.
|
biomarker
|
{
"id": 478,
"name": "ATP1A3",
"pos": [
23,
6
]
}
|
{
"id": "C0743841",
"name": "Disorder characterized by fever",
"pos": [
113,
15
]
}
|
Here we show decreasing the levels of CTR1 (Cu transporter 1), or mutations in MEK1 that disrupt Cu binding, decreased BRAF(V600E)-driven signalling and tumorigenesis in mice and human cell settings.
|
NA
|
{
"id": 799,
"name": "CALCR",
"pos": [
38,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
153,
13
]
}
|
We conclude that the increased expression of homeobox gene DLX4 may be a contributing factor to the developmental abnormalities seen in the FGR-affected placentae.
|
NA
|
{
"id": 2268,
"name": "FGR",
"pos": [
140,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
114,
13
]
}
|
No association between ACE genotypes and Factor VII or Factor X activities, neither with fibrinogen or PAI-1 levels was observed.
|
NA
|
{
"id": 2155,
"name": "F7",
"pos": [
41,
10
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
89,
10
]
}
|
To address this, we have investigated hypoxic hepcidin regulation in HuH7 hepatoma cells either cultured alone or cocultured with activated THP-1 macrophages.
|
NA
|
{
"id": 57817,
"name": "HAMP",
"pos": [
46,
8
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
38,
7
]
}
|
In PDAC cell lines Panc-1 and BxPC-3, knockdown of cortactin impaired migration and invasion, while cell proliferation was not affected.
|
biomarker
|
{
"id": 2017,
"name": "CTTN",
"pos": [
51,
9
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
84,
8
]
}
|
The frequency of the CCR5-Delta32 mutation in PSC (6.8%) was significantly lower compared with IBD (12.6%; P = 0.016) and healthy control subjects (12.2%, P = 0.026), suggesting a protective effect of this mutation on PSC.
|
genomic_alterations
|
{
"id": 1234,
"name": "CCR5",
"pos": [
21,
4
]
}
|
{
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
95,
3
]
}
|
To observe changes in the expression of autophagy-related proteins, Beclin-1 and LC3, in the hippocampal tissue of neonatal rats with hypoxic-ischemic brain damage (HIBD) at different time points, and to investigate the effect of rapamycin (Ra) on the expression of the above two proteins.
|
NA
|
{
"id": 84557,
"name": "MAP1LC3A",
"pos": [
81,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
134,
7
]
}
|
BCL-6 gene mutations in posttransplantation lymphoproliferative disorders predict response to therapy and clinical outcome.
|
genomic_alterations
|
{
"id": 604,
"name": "BCL6",
"pos": [
0,
5
]
}
|
{
"id": "C0024314",
"name": "Lymphoproliferative Disorders",
"pos": [
44,
29
]
}
|
SASP components reinforce growth-arrest and act immune-stimulatory, while others are tumor-promoting.
|
NA
|
{
"id": 151516,
"name": "ASPRV1",
"pos": [
0,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
85,
5
]
}
|
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