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|---|---|---|---|
This study explores the association between G-protein-coupled receptor kinase type 4 (GRK4) variants and blood pressure response to metoprolol among African Americans with early hypertensive nephrosclerosis.
|
genomic_alterations
|
{
"id": 6754,
"name": "SSTR4",
"pos": [
44,
26
]
}
|
{
"id": "C0264657",
"name": "Renal sclerosis with hypertension",
"pos": [
178,
28
]
}
|
The apolipoprotein E gene (APOE) coding polymorphism modifies the risks of Alzheimer's disease, type 2 diabetes, and coronary heart disease.
|
genomic_alterations
|
{
"id": 348,
"name": "APOE",
"pos": [
4,
16
]
}
|
{
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
117,
22
]
}
|
To identify longitudinal associations between MRI abnormalities and cognitive decline, correlation analysis was used.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
46,
3
]
}
|
{
"id": "C0234985",
"name": "Mental deterioration",
"pos": [
68,
17
]
}
|
Effects of hypoxia on expression of P-gp and mutltidrug resistance protein in human lung adenocarcinoma A549 cell line.
|
NA
|
{
"id": 5243,
"name": "ABCB1",
"pos": [
36,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
11,
7
]
}
|
These two miRNAs alleviate hypoxia and HIF-1α-induced differentiation of AML cells.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
39,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
27,
7
]
}
|
MIR129 expression was correlated with MIR129-2 methylation status in primary lymphoma samples.
|
NA
|
{
"id": 406918,
"name": "MIR129-2",
"pos": [
38,
8
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
77,
8
]
}
|
Recent data suggest that late relapses evolve from an ancestral ETV6/RUNX1-positive (also designated TEL/AML1-positive) clone resulting from secondary changes (ETV6 deletion) that differ from those of the initial leukemia and, as a consequence, may also deviate in their clonotypic immunoglobulin/T-cell receptor (IG/TCR) gene rearrangements.
|
genomic_alterations
|
{
"id": 2120,
"name": "ETV6",
"pos": [
160,
4
]
}
|
{
"id": "C0023418",
"name": "leukemia",
"pos": [
213,
8
]
}
|
Levels of both TGF beta 1 and TGF beta 3 increased with increasing cell density for leiomyoma and myometrium smooth muscle cells cultured in vitro.
|
biomarker
|
{
"id": 7040,
"name": "TGFB1",
"pos": [
15,
10
]
}
|
{
"id": "C0023267",
"name": "Fibroid Tumor",
"pos": [
84,
9
]
}
|
We have previously shown that NF1 (type 1 neurofibromatosis) p21ras GTPase-activating tumor suppressor protein undergoes major relocalization during the formation of cell-cell junctions in differentiating keratinocytes in vitro.
|
biomarker
|
{
"id": 3265,
"name": "HRAS",
"pos": [
61,
6
]
}
|
{
"id": "C0027831",
"name": "Neurofibromatosis 1",
"pos": [
35,
24
]
}
|
Three hundred and four severely obese patients (mean +/- SEM age, 42 +/- 1 years; 245 women and 59 men; mean +/- SEM body mass index, 43.9 +/- 0.3 kg/m2) followed prospectively for at least 3 years after surgery were genotyped for the GNB3 C825T, G814A, and GNAS1 T393 polymorphisms.
|
NA
|
{
"id": 2784,
"name": "GNB3",
"pos": [
235,
4
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
117,
15
]
}
|
Endothelial cells in an established vasculature secrete tumor necrosis factor superfamily-15 (TNFSF15; VEGI; TL1A) that functions as a negative modulator of neovascularization to maintain blood vessel stability.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
56,
21
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
157,
18
]
}
|
In a Chinese cohort consisting of 2013 sporadic PD patients and 1971 controls, we investigated the modification of the two Asian-specific LRRK2 variants, G2385R and R1628P, by variants of five other PD-associated genes/loci (SNCA, MAPT, GBA, BST1, PARK16).
|
NA
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
138,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
39,
8
]
}
|
In a genome-wide screen using DMH (differential methylation hybridization) we have identified a CpG island within the 5' region and untranslated first exon of the secretory granule neuroendocrine protein 1 gene (SGNE1/7B2) that showed hypermethylation in low- and high-grade astrocytomas compared to normal brain tissue.
|
NA
|
{
"id": 667,
"name": "DST",
"pos": [
30,
3
]
}
|
{
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
275,
12
]
}
|
In conclusion, pregnant women with primary toxoplasmosis mounted in vitro Tg-specific Th1/Th0 responses whose impact on neonatal infection warrants further investigation.
|
NA
|
{
"id": 51497,
"name": "NELFCD",
"pos": [
86,
3
]
}
|
{
"id": "C0040558",
"name": "Toxoplasmosis",
"pos": [
43,
13
]
}
|
The TIPE2-elicited antimetastatic effect in gastric cancer was closely associated with the inhibition of AKT signaling and enhancement of GSK3β activity followed by the degradation and decreased translocation to nucleus of β-catenin.
|
NA
|
{
"id": 79626,
"name": "TNFAIP8L2",
"pos": [
4,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
195,
13
]
}
|
The present case-control study investigated the association of the four commonly studied single nucleotide polymorphisms (SNP) of VEGF-A, namely: -1154A/G (rs1570360), -2578C/A (rs699947), -634G/C (rs2010963) and -460T/C (rs833061) with BC susceptibility and aggressiveness in Moroccan women.
|
NA
|
{
"id": 7422,
"name": "VEGFA",
"pos": [
130,
6
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
259,
14
]
}
|
We hypothesized that hypoxia might play an important role in AQP1 induction during tumorigenesis and at the late stages of tumor development.
|
NA
|
{
"id": 358,
"name": "AQP1",
"pos": [
61,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
21,
7
]
}
|
The aim of this study was to establish the true contribution of this variant and common variants in LARS2 (MAF > 5%) to type 2 diabetes risk.
|
NA
|
{
"id": 4094,
"name": "MAF",
"pos": [
107,
3
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
120,
15
]
}
|
In the studied sample of adult North Mediterranean population younger than 65 years the prevalences of factor V Leiden and prothrombin G20210A mutations were greater in patients with ischemic stroke than in matched controls.
|
genomic_alterations
|
{
"id": 2147,
"name": "F2",
"pos": [
123,
11
]
}
|
{
"id": "C0948008",
"name": "Ischemic stroke",
"pos": [
183,
15
]
}
|
The differentially expressed genes between diffuse and nodular samples included some related to DNA stability and repair (TALDO1, PRDX2, DDB1, XRCC1, and POLB), RNA stability and degradation (OASL and AUF1), protein synthesis and processing (PFDN5, HSPD1, and NACA), cell growth (CDC25C and GRPR), and tumorigenesis and cell cycle (VIL2 and TPD52).
|
NA
|
{
"id": 5423,
"name": "POLB",
"pos": [
154,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
302,
13
]
}
|
The regulatory effects of miR-144 and CEP55 on breast tumor were verified through nude mouse model in vivo experiment.
|
biomarker
|
{
"id": 406936,
"name": "MIR144",
"pos": [
26,
7
]
}
|
{
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
47,
12
]
}
|
Sucrose, non-fermenting 1/AMP-activated protein kinase-related kinase (SNARK) is involved in cellular stress responses linked to obesity and type 2 diabetes.
|
NA
|
{
"id": 81788,
"name": "NUAK2",
"pos": [
71,
5
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
141,
15
]
}
|
Increased MYC turnover at low O2 tension was dependent on the E3 ubiquitin ligases FBXW7 and DDB1, as well as hypoxic induction of cathepsins D and S. Reduced MYC protein levels coincided with hypoxic inhibition of RNA polymerase III-dependent MYC target genes, which MYC regulates independently of its binding partner MAX.
|
NA
|
{
"id": 4149,
"name": "MAX",
"pos": [
319,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
193,
7
]
}
|
Furthermore, NSAIDs could block the inflammation-induced BACE1 transcription and Aβ production.
|
NA
|
{
"id": 23621,
"name": "BACE1",
"pos": [
57,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
36,
12
]
}
|
CHIT1 is expressed by pulmonary macrophages, which is typically the site of entry for many environmental fungi that may increase the risk of pulmonary fungal infection and lead to hypersensitivity.
|
NA
|
{
"id": 1118,
"name": "CHIT1",
"pos": [
0,
5
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
180,
16
]
}
|
The present review focuses on the reported evidence linking p66(Shc) signaling pathway to high glucose-associated endothelial dysfunction, atherogenesis, nephropathy, and cardiomyopathy.
|
NA
|
{
"id": 57459,
"name": "GATAD2B",
"pos": [
60,
3
]
}
|
{
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
171,
14
]
}
|
Transcription factor 2 gene mutation may be responsible for approximately one-third of children having isolated renal cysts, multicystic dysplastic kidneys, oligomeganephronia, hypo-dysplastic kidneys, horseshoe kidneys, and hyperechogenic kidneys.
|
NA
|
{
"id": 6928,
"name": "HNF1B",
"pos": [
0,
22
]
}
|
{
"id": "C3275899",
"name": "Hyperechogenic kidneys",
"pos": [
225,
22
]
}
|
Adrenal tissues were obtained from patients with Cushing disease, ectopic secretion of ACTH [paraneoplastic Cushing syndrome; (paraCS)], 21-hydroxylase deficiency (21-OHD), primary bilateral macronodular adrenal hyperplasia with intra-adrenal ACTH presence, or cortisol-producing adenomas.
|
genomic_alterations
|
{
"id": 5443,
"name": "POMC",
"pos": [
87,
4
]
}
|
{
"id": "C0342495",
"name": "Macronodular adrenal hyperplasia",
"pos": [
191,
32
]
}
|
Nasal CPAP improved airway obstruction by opening a narrow slit as demonstrated by MRI.
|
NA
|
{
"id": 55835,
"name": "CENPJ",
"pos": [
6,
4
]
}
|
{
"id": "C0001883",
"name": "Airway Obstruction",
"pos": [
20,
18
]
}
|
Our findings supported the use of the hit reaction time measure of the CPT as an endophenotype marker for schizophrenia.
|
NA
|
{
"id": 56994,
"name": "CHPT1",
"pos": [
71,
3
]
}
|
{
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
38,
3
]
}
|
Three single nucleotide polymorphisms have previously been associated with AD in Europeans, rs2897442 (KIF3A), rs479844 (OVOL1) and rs2164983 (ACTL9).
|
genomic_alterations
|
{
"id": 284382,
"name": "ACTL9",
"pos": [
143,
5
]
}
|
{
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
75,
2
]
}
|
AAV-mediated expression of human PRELP inhibits complement activation, choroidal neovascularization and deposition of membrane attack complex in mice.
|
NA
|
{
"id": 17,
"name": "AAVS1",
"pos": [
0,
3
]
}
|
{
"id": "C0600518",
"name": "Choroidal Neovascularization",
"pos": [
71,
28
]
}
|
Examination of GTT1 mRNA expression by semiquantitative RT-PCR assays in a series of tumour cell lines indicated wide-spread GTT1 expression with predominance in both choriocarcinoma JEG-3 and JAR cells, colorectal adenocarcinoma HT29 and hepatocellular carcinoma HepG2 cells.
|
NA
|
{
"id": 56910,
"name": "STARD7",
"pos": [
125,
4
]
}
|
{
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
239,
24
]
}
|
Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism.
|
genomic_alterations
|
{
"id": 2798,
"name": "GNRHR",
"pos": [
17,
13
]
}
|
{
"id": "C0022735",
"name": "Klinefelter Syndrome",
"pos": [
72,
29
]
}
|
Further subgroup analyses by type of disease revealed that GSTM1, GSTP1 and GSTT1 null genotypes were all significantly associated with elevated individual susceptibility to acute lymphoblastic leukemia, GSTM1 and GSTT1 null genotypes were significantly associated with elevated individual susceptibility to acute myeloid leukemia, and GSTT1 null genotype was also significantly associated with elevated individual susceptibility to chronic leukemia.
|
genomic_alterations
|
{
"id": 2950,
"name": "GSTP1",
"pos": [
66,
5
]
}
|
{
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
174,
28
]
}
|
Further in vivo study is necessary to determine whether the PAX2 and WNT5A are truly involved in WT pathogenesis.
|
biomarker
|
{
"id": 7474,
"name": "WNT5A",
"pos": [
69,
5
]
}
|
{
"id": "C1333015",
"name": "Childhood Kidney Wilms Tumor",
"pos": [
97,
2
]
}
|
Recipients of CRT-D that normalize their EF have very low rates of ventricular arrhythmias requiring appropriate ICD therapy compared with those that do not.
|
genomic_alterations
|
{
"id": 6535,
"name": "SLC6A8",
"pos": [
14,
3
]
}
|
{
"id": "C0085612",
"name": "Ventricular arrhythmia",
"pos": [
67,
23
]
}
|
Examination of the expression of ObR, leptin, IL-8 and EMT-related biomarkers in patient specimens demonstrated that malignant breast carcinoma with lymph node metastases (LNM), which represents poor prognosis, expressed higher levels of ObR, leptin, IL-8 than other types of breast cancer, and displayed more obvious EMT transversion.
|
NA
|
{
"id": 3702,
"name": "ITK",
"pos": [
318,
3
]
}
|
{
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
149,
21
]
}
|
The aim of this study was to investigate whether previous identified and studied genetic polymorphisms at DRD2, ANKK1, DRD3, HTR2A, HTR2C, RGS2, COMT, and BDNF genes are associated with antipsychotic-related parkinsonism in elderly patients.This cross-sectional study included 150 inpatients aged 65 years and older who were treated with haloperidol.
|
NA
|
{
"id": 3356,
"name": "HTR2A",
"pos": [
125,
5
]
}
|
{
"id": "C0242422",
"name": "Parkinsonian Disorders",
"pos": [
208,
12
]
}
|
Here, we demonstrate that mouse Tsc2-null myometrial tumors exhibit nearly all the features of LAM, including mTORC1/S6K activation, as well as expression of melanocytic markers and matrix metalloproteinases (MMPs).
|
NA
|
{
"id": 6198,
"name": "RPS6KB1",
"pos": [
117,
3
]
}
|
{
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
75,
3
]
}
|
The findings suggest that the TNF-alpha G-308A polymorphism does not mediate the effect of smoking on plasma CRP levels.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
109,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
91,
7
]
}
|
Experiments in vitro demonstrated that a decrease in the glucose concentration reduced the transcriptional activity of HIF-1 and expression of a downstream gene for the cell cycle regulator p27(Kip1) even under hypoxic conditions.
|
NA
|
{
"id": 10671,
"name": "DCTN6",
"pos": [
190,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
211,
7
]
}
|
Two distinct partners of double IGH translocation identified by FISH were as follows: c-MYC + BCL2 in 3 patients, c-MYC + BCL1 in 2, c-MYC + BCL6 in one, BCL2 + 9q22 in one, and 1q21 + 6q27 in one.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
64,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
36,
13
]
}
|
Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD).
|
NA
|
{
"id": 3381,
"name": "IBSP",
"pos": [
15,
3
]
}
|
{
"id": "C0013423",
"name": "Dystonia Musculorum Deformans",
"pos": [
40,
24
]
}
|
When comparing 1p-deleted tumors of all stages to tumors with an intact 1p, a significant difference at gene-by-gene level in TNFRSF9, RERE, PIK3CD, CLSTN1, CTNNBIP1, and CASZ1 was detected.
|
NA
|
{
"id": 473,
"name": "RERE",
"pos": [
135,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
50,
6
]
}
|
Liraglutide improves cognitive impairment via the AMPK and PI3K/Akt signaling pathways in type 2 diabetic rats.
|
biomarker
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
59,
4
]
}
|
{
"id": "C0338656",
"name": "Impaired cognition",
"pos": [
21,
20
]
}
|
Cerebral vasospasm following subarachnoid hemorrhage (SAH) leads to reduced cerebral blood flow (CBF) and to cerebral ischemia, in some cases even producing infarction and long-term disability.
|
NA
|
{
"id": 6296,
"name": "ACSM3",
"pos": [
54,
3
]
}
|
{
"id": "C0021308",
"name": "Infarction",
"pos": [
157,
10
]
}
|
Secondly, knockdown of PLU1 in the highly invasive cancer cells increased KAT5 expression and reduced the invasive activity.
|
NA
|
{
"id": 10765,
"name": "KDM5B",
"pos": [
23,
4
]
}
|
{
"id": "C0677898",
"name": "invasive cancer",
"pos": [
42,
15
]
}
|
Moreover, high levels of biglycan promoted angiogenesis and colon tumor growth, as evidenced by the increased cell viability, colon tumor size, and weight, as well as the CD34 expression.
|
NA
|
{
"id": 947,
"name": "CD34",
"pos": [
171,
4
]
}
|
{
"id": "C0009375",
"name": "Colonic Neoplasms",
"pos": [
126,
11
]
}
|
The genotypes of ACAT-1 CC; ACAT-1 AA and CC were interacted with overweight/obesity to decrease SBP, PP levels (p < 0.01-0.001); respectively.
|
NA
|
{
"id": 38,
"name": "ACAT1",
"pos": [
28,
4
]
}
|
{
"id": "C0497406",
"name": "Overweight",
"pos": [
66,
10
]
}
|
Type 1 (insulin-dependent) diabetes is strongly associated with the HLA genes encoding DR3 and DR4 and their associated DQ alleles.
|
NA
|
{
"id": 8718,
"name": "TNFRSF25",
"pos": [
87,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
27,
8
]
}
|
Pdx-1-driven overexpression of aurora a kinase induces mild ductal dysplasia of pancreatic ducts near islets in transgenic mice.
|
NA
|
{
"id": 3651,
"name": "PDX1",
"pos": [
0,
5
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
55,
4
]
}
|
Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.
|
NA
|
{
"id": 5781,
"name": "PTPN11",
"pos": [
62,
6
]
}
|
{
"id": "C1838681",
"name": "Rapidly progressive",
"pos": [
142,
19
]
}
|
Identification of novel mutation in compound heterozygosity in MYO7A gene revealed the genetic origin of Usher syndrome type 2 in this Han family.
|
genomic_alterations
|
{
"id": 4647,
"name": "MYO7A",
"pos": [
63,
5
]
}
|
{
"id": "C0339534",
"name": "Usher syndrome type 2",
"pos": [
105,
21
]
}
|
Decreased transcription of the BRCA1 gene has previously been observed to occur in sporadic breast tumours, making elucidation of the mechanisms regulating the expression of this gene important for our understanding of the etiology of the disease.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
31,
10
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
83,
8
]
}
|
We conclude that miR200 family members, miR34b and miR203a might be promising complementary biomarkers in ovarian cancer.
|
biomarker
|
{
"id": 406986,
"name": "MIR203A",
"pos": [
51,
7
]
}
|
{
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
106,
14
]
}
|
In this study, we discovered that overexpression of antioxidant-responsive element (ARE)-containing Nrf2 target genes by increased transactivation of Nrf2 occurred because of an acquired Keap1 mutation in the gefitinib-resistant (GR) NSCLC cell line we established.
|
genomic_alterations
|
{
"id": 9817,
"name": "KEAP1",
"pos": [
187,
5
]
}
|
{
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
234,
5
]
}
|
She was negative for APC and MUTYH but showed a reciprocal balanced translocation t(5;7)(q22;p15) at chromosome analysis.
|
NA
|
{
"id": 4595,
"name": "MUTYH",
"pos": [
29,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
68,
13
]
}
|
Furthermore, galectin-3 was found to interact with the pro-inflammatory cytokine Monocyte Chemoattractant Protein-1, which stimulates the recruitment of monocytes/macrophages, and proved to be significantly increased in the serum of Ctns<sup>-/-</sup> mice and also patients with cystinosis.
|
biomarker
|
{
"id": 6347,
"name": "CCL2",
"pos": [
81,
34
]
}
|
{
"id": "C4316899",
"name": "Cystinosis",
"pos": [
292,
10
]
}
|
Intravascular ultrasound in patients with acute pulmonary embolism after treatment with intravenous urokinase and high-dose heparin.
|
therapeutic
|
{
"id": 5328,
"name": "PLAU",
"pos": [
100,
9
]
}
|
{
"id": "C0524702",
"name": "Pulmonary Thromboembolisms",
"pos": [
42,
24
]
}
|
The CXCR3 chemokine receptor, a member of the CXCR family, has been linked to a pathological role in autoimmune disease, inflammatory disease, allograft rejection, and ischemia.
|
NA
|
{
"id": 2833,
"name": "CXCR3",
"pos": [
4,
5
]
}
|
{
"id": "C1290884",
"name": "Inflammatory disorder",
"pos": [
121,
20
]
}
|
Thus, these results suggest that over-expression of GRB2 and FLICE2 in RA synovium is caused by TNF-alpha inducibility differentially regulated in RA synoviocytes and provide potential pathogenic roles of these genes in the hyperplasia of the RA synovium.
|
NA
|
{
"id": 843,
"name": "CASP10",
"pos": [
61,
6
]
}
|
{
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
224,
11
]
}
|
We hypothesised that single nucleotide polymorphisms (SNPs) of the NOD2 gene are associated with a higher rate of infections during the phase of severe neutropenia.
|
NA
|
{
"id": 64127,
"name": "NOD2",
"pos": [
67,
9
]
}
|
{
"id": "C3714514",
"name": "Infection",
"pos": [
114,
10
]
}
|
We previously performed growth studies using BALB/cJ Npc1 normal (Npc1+/+) and Npc1 heterozygous (Npc1+/-) mice and determined that decreased Npc1 gene dosage interacts with a high-fat diet to promote weight gain and adiposity.
|
NA
|
{
"id": 4864,
"name": "NPC1",
"pos": [
143,
9
]
}
|
{
"id": "C0043094",
"name": "Weight Gain",
"pos": [
202,
11
]
}
|
We describe a six-generation family in which a novel combination of brachydactyly and central polydactyly co-segregates with a missense mutation that substitutes leucine for isoleucine at position 47 of the HOXD13 homeodomain.
|
genomic_alterations
|
{
"id": 3239,
"name": "HOXD13",
"pos": [
207,
6
]
}
|
{
"id": "C0221357",
"name": "Brachydactyly",
"pos": [
68,
13
]
}
|
Mutation of Pla2g2a, a secretory phospholipase A(2) gene, dramatically increases the number of intestinal polyps that develop in the multiple intestinal neoplasia (Min) mouse, a murine model for adenomatous polyposis coli in humans.
|
genomic_alterations
|
{
"id": 5320,
"name": "PLA2G2A",
"pos": [
12,
7
]
}
|
{
"id": "C0021846",
"name": "Intestinal Polyps",
"pos": [
95,
17
]
}
|
We hypothesized that the ERK5 pathway plays a role in the control of monocytic differentiation, which is disturbed in myeloid leukemia.
|
NA
|
{
"id": 5598,
"name": "MAPK7",
"pos": [
25,
4
]
}
|
{
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
118,
16
]
}
|
To analyze the effects of the mutations in the beta3-adrenoceptor (beta3-AR) gene and/or uncoupling protein3 (UCP3) gene promoter on body fat distribution and glycemic control after mild weight reduction in overweight-obese subjects with coronary artery disease (CAD) or metabolic syndrome.
|
NA
|
{
"id": 7352,
"name": "UCP3",
"pos": [
110,
4
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
182,
4
]
}
|
The aim of this study was to examine whether allelic variants of the dopamine D4 receptor gene (DRD4) are associated with alcohol use in adolescents and to determine the extent to which these links are mediated by NS.
|
NA
|
{
"id": 1815,
"name": "DRD4",
"pos": [
96,
4
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
122,
11
]
}
|
AMPKα2 Regulates Bladder Cancer Growth through SKP2-Mediated Degradation of p27.
|
biomarker
|
{
"id": 5563,
"name": "PRKAA2",
"pos": [
0,
6
]
}
|
{
"id": "C0005684",
"name": "Malignant neoplasm of urinary bladder",
"pos": [
17,
14
]
}
|
Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients' survival.
|
NA
|
{
"id": 6790,
"name": "AURKA",
"pos": [
56,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
74,
8
]
}
|
The second highest frequency of HD occurred in PTEN (n = 8), another well known melanoma TSG.
|
NA
|
{
"id": 57045,
"name": "TWSG1",
"pos": [
89,
3
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
80,
8
]
}
|
Interleukin-1 (IL-1), interleukin-6 (IL-6) and TNF-alpha are strong inductors of bone resorption.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
47,
9
]
}
|
{
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
81,
15
]
}
|
In three murine disease models (the laser-induced choroidal neovascularization model, the VEGF transgenic model, and the retinopathy of prematurity model) significant inhibition of neovascularization (up to 85%) was demonstrated with doses of Ad(GV)PEDF vectors ranging from 1 x 10(8) to 1 x 10(9) pu.
|
NA
|
{
"id": 5176,
"name": "SERPINF1",
"pos": [
249,
4
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
181,
18
]
}
|
In vivo, bG47Delta-dnFGFR was more efficacious than its nonexpressing parent bG47Delta-empty at inhibiting tumor growth and angiogenesis in both human U87 glioma and mouse 37-3-18-4 MPNST tumors in nude mice.
|
NA
|
{
"id": 677775,
"name": "SCARNA5",
"pos": [
151,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
188,
6
]
}
|
Most subjects with NCC had mild to moderate left ventricular dysfunction (n = 29, 71%).
|
NA
|
{
"id": 6559,
"name": "SLC12A3",
"pos": [
19,
3
]
}
|
{
"id": "C0242973",
"name": "Ventricular Dysfunction",
"pos": [
49,
23
]
}
|
These results show that WWOX gene is frequently altered in HCC and raise the possibility that this gene is implicated in hepatocarcinogenesis.
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
59,
3
]
}
|
{
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
121,
20
]
}
|
In this study we provide the first incontrovertible evidence that the upstream promoter of ETV6 attached to the first two exons of the gene was responsible for the ectopic expression of a proto-oncogene that became abnormally close as the result of deletion and translocation.
|
NA
|
{
"id": 2120,
"name": "ETV6",
"pos": [
91,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
262,
13
]
}
|
The statistical analysis revealed that PTHRP- and KRT19-positive detections correlated with the diagnosis of breast cancer while the combined positive detections of PTHRP-plus-KRT19 correlated with the presence of distant metastasis, especially with bone metastasis.
|
NA
|
{
"id": 3880,
"name": "KRT19",
"pos": [
176,
5
]
}
|
{
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
250,
15
]
}
|
Bif-1 interacts with Beclin 1 through UVRAG and regulates autophagy and tumorigenesis.
|
biomarker
|
{
"id": 9841,
"name": "ZBTB24",
"pos": [
0,
5
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
72,
13
]
}
|
Mutations of the SCN4B-encoded sodium channel β4 subunit in familial atrial fibrillation.
|
NA
|
{
"id": 6330,
"name": "SCN4B",
"pos": [
17,
5
]
}
|
{
"id": "C3468561",
"name": "familial atrial fibrillation",
"pos": [
60,
28
]
}
|
The 5-HTTLPR and BDNF polymorphisms moderate the association between uncinate fasciculus connectivity and antidepressants treatment response in major depression.
|
genomic_alterations
|
{
"id": 627,
"name": "BDNF",
"pos": [
17,
4
]
}
|
{
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
144,
16
]
}
|
In vitro and in vivo functional validation in osteosarcoma cell lines confirmed the tumor suppressive role of miR-16 and the pro-metastatic role of miR-27a.
|
biomarker
|
{
"id": 407018,
"name": "MIR27A",
"pos": [
148,
7
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
84,
5
]
}
|
Conversely, FANCI carrying phosphomimic mutations on the same six residues induces constitutive monoubiquitination and focus formation of FANCI and FANCD2, and protects against cell killing and chromosome breakage by DNA interstrand cross-linking agents.
|
NA
|
{
"id": 2177,
"name": "FANCD2",
"pos": [
148,
6
]
}
|
{
"id": "C0376628",
"name": "Chromosome Breakage",
"pos": [
194,
19
]
}
|
CONCLUSIONS: The use of MMI in the treatment of hyperthyroidism due to GD leads to the normalization of the Bcl-2 expression on the CD8+ lymphocytes in peripheral blood.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
132,
3
]
}
|
{
"id": "C0020550",
"name": "Hyperthyroidism",
"pos": [
48,
15
]
}
|
Our molecular investigations, based on fluorescence in situ hybridization and rapid amplification of cDNA ends, revealed that the translocation generated a MYB-GATA1 fusion gene.
|
NA
|
{
"id": 4602,
"name": "MYB",
"pos": [
156,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
130,
13
]
}
|
LOX-5 and COX-2 immunohistochemistry scores were significantly (P <0.01) higher in TCCs versus cystitis and normal bladders.
|
biomarker
|
{
"id": 5743,
"name": "PTGS2",
"pos": [
10,
5
]
}
|
{
"id": "C0010692",
"name": "Cystitis",
"pos": [
98,
8
]
}
|
FOXA1 binds to a subset of both luminal and basal genes within luminal breast cancer cells, and loss of FOXA1 increases enhancer RNA transcription for a representative basal gene (CD58).
|
NA
|
{
"id": 965,
"name": "CD58",
"pos": [
180,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
71,
13
]
}
|
Here we show that renalase expression is increased in pancreatic cancer tissue and that it functions as a growth factor.
|
NA
|
{
"id": 55328,
"name": "RNLS",
"pos": [
18,
8
]
}
|
{
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
54,
17
]
}
|
In addition, SRI33576 did not affect mTOR, STAT3 and Notch signaling in TNBC and noncancerous cells.
|
biomarker
|
{
"id": 6774,
"name": "STAT3",
"pos": [
43,
5
]
}
|
{
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
72,
4
]
}
|
Our results suggested that replication-deficient adenovirus-mediated delivery of amino-terminal (MBP-AR) or carboxyl-terminal (MBP-CR) repressor domain of MBP-1 exerted an antiproliferative effect, like the full-length MBP-1, and induced caspase-independent apoptosis in prostate cancer cells.
|
NA
|
{
"id": 2023,
"name": "ENO1",
"pos": [
219,
5
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
49,
10
]
}
|
In a mouse bone marrow transplantation model, a RUNX1 mutant, D171N, was shown to collaborate with Evi1 in the development of MDSs; however, this is rare in humans.
|
genomic_alterations
|
{
"id": 2122,
"name": "MECOM",
"pos": [
99,
4
]
}
|
{
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
126,
3
]
}
|
We confirmed associations between rs13387042 (2q35), rs4973768 (SLC4A7), rs10941679 (5p12), rs2981582 (FGFR2), rs3817198 (LSP1), rs3803662 (TOX3), and rs6504950 (STXBP4) with breast cancer.
|
genomic_alterations
|
{
"id": 4046,
"name": "LSP1",
"pos": [
122,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
175,
13
]
}
|
To specifically investigate whether ITGAM is a susceptibility gene not only for SLE, but also for cutaneous DLE, we genotyped 177 patients with DLE, 85 patients with sporadic SLE, 190 index cases from SLE families and 395 population control individuals from Finland for nine genetic markers at the ITGAM locus.
|
NA
|
{
"id": 3684,
"name": "ITGAM",
"pos": [
298,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
166,
8
]
}
|
Herein we examined the role of fibrinogen and FGF-2 interactions on prostate and lung adenocarcinoma cell growth in vitro.
|
biomarker
|
{
"id": 2247,
"name": "FGF2",
"pos": [
46,
5
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
81,
19
]
}
|
Here, we show that short hairpin RNA (shRNA)-mediated inhibition of EGFR is sufficient to abolish HIF-dependent tumorigenesis in multiple VHL-/- RCC cell lines.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
68,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
112,
13
]
}
|
A total of 233 subjects with successful DNA extraction, PCR amplification, and genotyping were included in the genetic analysis of G153D and R141L SNPs of LOXL1 gene and classified into four groups: controls (n = 93); subjects with PEX (n = 40); POAG (n = 66); and PEXG (n = 34).
|
genomic_alterations
|
{
"id": 4016,
"name": "LOXL1",
"pos": [
155,
5
]
}
|
{
"id": "C0339573",
"name": "Glaucoma, Primary Open Angle",
"pos": [
246,
4
]
}
|
These abnormalities include p53 mutations and increased focal adhesion kinase (FAK) expression.
|
NA
|
{
"id": 5747,
"name": "PTK2",
"pos": [
79,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
6,
13
]
}
|
We investigated the expression of Notch 1 and its ligands, Jagged 1, Jagged 2 and Delta-like 1, by immunohistochemistry in a series of premalignant and invasive cutaneous carcinomas, including 4 solar keratoses, 5 Bowen's disease, 5 squamous cell carcinomas on sun-exposed skin, 6 squamous cell carcinomas on sun-protected genital skin and 14 basal cell carcinomas of different histotypes (nodular, superficial type, sclerodermiform/infiltrating and baso-squamous).
|
NA
|
{
"id": 3714,
"name": "JAG2",
"pos": [
69,
8
]
}
|
{
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
135,
12
]
}
|
The discovery of the novel KIF5B-ALK variant further consolidated the role of aberrant ALK signaling in lung carcinogenesis.
|
genomic_alterations
|
{
"id": 3799,
"name": "KIF5B",
"pos": [
27,
5
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
109,
14
]
}
|
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