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|---|---|---|---|
Differential gene expression in CD14-positive cells from patients with atomic dermatitis (AD) was studied using real-time quantitative RT-PCR to measure transcription levels of selected genes. | NA | {
"id": 929,
"name": "CD14",
"pos": [
32,
4
]
} | {
"id": "C0011603",
"name": "Dermatitis",
"pos": [
78,
10
]
} |
Fifty-nine cases of tumors were divided into aggressive odontogenic tumors (20 solid ameloblastomas, four unicystic ameloblastoma, 28 KOTs including five associated with Gorlin-Goltz syndrome) and non-aggressive odontogenic tumors (five adenomatoid odontogenic tumors and two calcifying cystic odontogenic tumors) and analyzed for glypican-3 using immunohistochemistry. | genomic_alterations | {
"id": 2719,
"name": "GPC3",
"pos": [
331,
10
]
} | {
"id": "C0004779",
"name": "Basal Cell Nevus Syndrome",
"pos": [
170,
21
]
} |
These findings demonstrate a novel aspect of murine and human thyroid autoimmunity, namely breaking B cell self-tolerance occurs first for Tg and subsequently for TPO. | NA | {
"id": 7066,
"name": "THPO",
"pos": [
163,
3
]
} | {
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
70,
12
]
} |
These results suggest that DLC1 is unlikely to play an important role in prostate cancer susceptibility. | NA | {
"id": 10395,
"name": "DLC1",
"pos": [
27,
4
]
} | {
"id": "C3469524",
"name": "PROSTATE CANCER, SUSCEPTIBILITY TO",
"pos": [
73,
30
]
} |
The test group included 50 females who presented PTT dysfunction Grade 2 or 3, and who were submitted to surgical treatment, with histopathological examination of the tendon and magnetic resonance image (MRI) confirming tendinopathy, while the control group was 100 asymptomatic women who present intact PTT at MRI. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
311,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
266,
12
]
} |
Components of the miRNA processing machinery, such as Dicer and Drosha are not responsible for miRNA deregulation in recurrent ovarian cancer, as deluded by TaqMan and immunohistochemistry. | NA | {
"id": 29102,
"name": "DROSHA",
"pos": [
64,
6
]
} | {
"id": "C0278689",
"name": "Recurrent ovarian cancer",
"pos": [
117,
24
]
} |
Loss of channel function because of mutations in Kir6.2 or its associated regulatory subunit, sulfonylurea receptor 1, causes congenital hyperinsulinism (CHI), a neonatal disease characterized by persistent insulin secretion despite severe hypoglycemia. | NA | {
"id": 3767,
"name": "KCNJ11",
"pos": [
49,
6
]
} | {
"id": "C0021290",
"name": "Neonatal disorder",
"pos": [
162,
16
]
} |
Yersinia heat-shock protein 60 (Ye-hsp60) has recently been found to be a dominant CD4 and CD8 T cell Ag in Yersinia-triggered reactive arthritis. | NA | {
"id": 920,
"name": "CD4",
"pos": [
83,
3
]
} | {
"id": "C0085435",
"name": "Arthritis, Reactive",
"pos": [
127,
18
]
} |
An impaired signaling capacity of the serotonin (5-HT) 5-HT<sub>2C</sub> receptor (5-HT<sub>2C</sub>R) has been implicated in the neurobehavioral processes that promote relapse vulnerability in cocaine use disorder (CUD). | biomarker | {
"id": 3361,
"name": "HTR5A",
"pos": [
49,
7
]
} | {
"id": "C3496069",
"name": "cocaine use",
"pos": [
218,
11
]
} |
Regulation of G-protein coupled receptor signalling underpinning neurobiology of mood disorders and depression. | biomarker | {
"id": 10663,
"name": "CXCR6",
"pos": [
14,
26
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
100,
10
]
} |
In addition, platelets with the Q43P beta1-tubulin variant had reduced adenosine triphosphate (ATP) secretion, thrombin receptor activating peptide (TRAP)-induced aggregation and collagen adhesion. ] | NA | {
"id": 203068,
"name": "TUBB",
"pos": [
37,
13
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
188,
8
]
} |
Immunohistochemical staining for p16 and BRAFV600E is useful to distinguish between sporadic and hereditary (Lynch syndrome-related) microsatellite instable colorectal carcinomas. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
33,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
84,
8
]
} |
In the present study, we investigated the effect of APD668, a GPR119 agonist alone or in combination with linagliptin, a DPPIV inhibitor on the progression of steatohepatitis in mice fed on a high trans-fat diet. | biomarker | {
"id": 1803,
"name": "DPP4",
"pos": [
121,
5
]
} | {
"id": "C2711227",
"name": "Steatohepatitis",
"pos": [
159,
15
]
} |
Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations. | NA | {
"id": 4948,
"name": "OCA2",
"pos": [
6,
3
]
} | {
"id": "C0002878",
"name": "Anemia, Hemolytic",
"pos": [
93,
16
]
} |
These findings indicate that miR-21-mediated inhibition of MC degranulation is involved in the anti-ACD effect of berberine via inhibiting p38 pathway, which provide a new insight into the immunopharmacological role of berberine and suggest its potential application for the treatment of allergic inflammation, such as ACD. | biomarker | {
"id": 5594,
"name": "MAPK1",
"pos": [
139,
3
]
} | {
"id": "C1275685",
"name": "Avellino corneal dystrophy",
"pos": [
319,
3
]
} |
The results suggest that molecular alteration of the beta-catenin gene occurs in atypical hyperplasia or cancer, rather than in simple or complex hyperplasia without atypia, during endometrial carcinogenesis. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
53,
12
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
146,
11
]
} |
We conclude that the use of continuous anticoagulant prophylaxis seems not warranted in asymptomatic individuals with a deficiency of antithrombin, protein C, or protein S. During risk periods for venous thromboembolism, adequate anticoagulant prophylaxis is necessary. | NA | {
"id": 5627,
"name": "PROS1",
"pos": [
162,
9
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
88,
12
]
} |
Thus, MUC1 activation by chromosomal translocation, rearrangement, and amplification, identified here for the first time in NHL, is consistent with its suggested role in tumorigenesis. | NA | {
"id": 4582,
"name": "MUC1",
"pos": [
6,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
25,
25
]
} |
Knockdown of MAGEA6 Activates AMP-Activated Protein Kinase (AMPK) Signaling to Inhibit Human Renal Cell Carcinoma Cells. | biomarker | {
"id": 353,
"name": "APRT",
"pos": [
30,
3
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
93,
20
]
} |
Animal studies have shown that the peroxime proliferator-activated receptor delta (PPARD) gene regulates glucose metabolism and insulin sensitivity. | NA | {
"id": 5467,
"name": "PPARD",
"pos": [
83,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
128,
19
]
} |
In sum, our results suggest that RPS7 suppresses ovarian tumorigenesis and metastasis through PI3K/AKT and MAPK signal pathways. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
94,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
57,
13
]
} |
The frequency of the whole haplotype Cw5, B18, BfF1, DR3 and of its segment BfF1, DR3, and the strength of the gametic associations between these alleles were much higher in IDD patients than in non-diabetic controls, irrespective of the age of onset of their diabetes. | NA | {
"id": 8718,
"name": "TNFRSF25",
"pos": [
82,
3
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
260,
8
]
} |
Decreased hypoxia tolerance in the 4E-BP1 knockdown tumors was evident by increased cleaved caspase-3 levels and was associated with a reduction in adenosine triphosphate (ATP). | NA | {
"id": 1978,
"name": "EIF4EBP1",
"pos": [
35,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
10,
7
]
} |
As clinically-faithful rodent models of sporadic PA are currently under development, Nf1 genetically-engineered mouse (GEM) models have served as tractable systems to study the role of the cell of origin, deregulated intracellular signaling, non-neoplastic cells in the tumor microenvironment and genomic modifiers in gliomagenesis. | NA | {
"id": 2669,
"name": "GEM",
"pos": [
119,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
40,
8
]
} |
The expression, localization and possible function of BSP in chronic pancreatitis (CP) and pancreatic ductal adenocarcinoma (PDAC) were analyzed by QRT-PCR, laser capture microdissection, DNA microarray analysis, immunoblotting, radioimmunoassays and immunohistochemistry as well as cell growth, invasion, scattering, and adhesion assays. | NA | {
"id": 3381,
"name": "IBSP",
"pos": [
55,
3
]
} | {
"id": "C1335302",
"name": "Pancreatic Ductal Adenocarcinoma",
"pos": [
92,
32
]
} |
We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) receptor subunit genes (GABRB3, GABRA5, and GABRG3). | genomic_alterations | {
"id": 2562,
"name": "GABRB3",
"pos": [
275,
6
]
} | {
"id": "C0162635",
"name": "Angelman Syndrome",
"pos": [
193,
5
]
} |
Programmed cell death ligand 1 (PD-L1) is part of an immune checkpoint system that is essential for preventing autoimmunity and cancer. | biomarker | {
"id": 29126,
"name": "CD274",
"pos": [
32,
5
]
} | {
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
111,
12
]
} |
Patients whose tumors exhibited microsatellite instability and/or lack of protein expression underwent MSH2/MLH1 germline testing. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
108,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
32,
26
]
} |
SLE Responder Index (SRI-4; primary end point) and British Isles Lupus Assessment Group-based Composite Lupus Assessment (BICLA) were assessed at week 24. | genomic_alterations | {
"id": 6717,
"name": "SRI",
"pos": [
21,
3
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
0,
3
]
} |
There was a significant increase in the GSTT1 null Liverpool alcoholic liver disease (ALD) patients compared with corresponding non-drinking controls (26.3 and 14.6%, respectively; P = 0.044, odds ratio (OR) = 2.1, 95% CI = 1.1-4.7) though this was not repeated in the Birmingham and North Staffordshire cohorts. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
40,
5
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
132,
8
]
} |
Our findings provide evidence that variability of the PRNP gene at codon 129 might contribute to accelerating the rate of earlier cognitive decline in DS subjects. | genomic_alterations | {
"id": 5621,
"name": "PRNP",
"pos": [
54,
4
]
} | {
"id": "C0338656",
"name": "Impaired cognition",
"pos": [
130,
17
]
} |
Haplotype-analysis suggested potential associations (p < 0.05) between lung cancer and 2 genes (RECQL4 and RAD52), which came with q-value of 8%, and between H-N cancer and 1 gene (DNA-PK) but with q-value of 56%. | genomic_alterations | {
"id": 5893,
"name": "RAD52",
"pos": [
110,
5
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
74,
11
]
} |
DISC1 is involved in neural development directly via adhesion molecules or via its binding partners of DISC1 such as elongation protein ζ-1 (FEZ1), DISC1-binding zinc-finger protein (DBZ) and kendrin. | NA | {
"id": 9638,
"name": "FEZ1",
"pos": [
142,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
54,
8
]
} |
cCMV-CI children with normal MRI scans perform equally or even slightly better on speech perception tests compared to their Cx26-CI peers during the first three years, whereas results between cCMV-CI children with and cCMV-CI children without MRI abnormalities and their matched Cx26-CI counterparts tentatively suggest that, over a 5-yr follow-up period, cCMV-CI children with abnormal MRI scans catch up for speech perception, but lag behind for speech production. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
243,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
247,
13
]
} |
In xenografts in severe combined immunodeficiency mice, tumor growth was significantly inhibited in the ARNT-knockdown condition. | NA | {
"id": 405,
"name": "ARNT",
"pos": [
104,
4
]
} | {
"id": "C0085110",
"name": "Severe Combined Immunodeficiency",
"pos": [
17,
32
]
} |
Kidney-specific knockout of Mef2c, or genetrap-inactivation of a MEF2C transcriptional target, MIM, resulted in extensive renal tubule dilation and cysts, whereas Hdac5 heterozygosity or treatment with TSA, an HDAC inhibitor, reduced cyst formation in Pkd2(-/-) mouse embryos. | NA | {
"id": 10014,
"name": "HDAC5",
"pos": [
163,
5
]
} | {
"id": "C0012359",
"name": "Pathological Dilatation",
"pos": [
135,
8
]
} |
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR amplification, CDKN2A-p16-INK4a homozygous deletion, and 9p and 10q deletion; rs4295627 (CCDC26) and rs498872 (PHLDB1) were associated with low-grade disease, IDH mutation, and 1p-19q codeletion. | genomic_alterations | {
"id": 3417,
"name": "IDH1",
"pos": [
257,
3
]
} | {
"id": "C0795839",
"name": "Chromosome 10, monosomy 10q",
"pos": [
162,
12
]
} |
The underlying mechanisms of Dvl-1 and Dvl-3 promoting lung cancer cell invasion require further research. | biomarker | {
"id": 8215,
"name": "DVL1P1",
"pos": [
29,
5
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
55,
11
]
} |
EMP1 mRNA levels were lower in the epithelium with severe hyperplasia (1.79-fold) or with metaplasia (1.85-fold) as compared to those with mild to moderate hyperplasia or non-metaplastic epithelium, respectively. | NA | {
"id": 2012,
"name": "EMP1",
"pos": [
0,
4
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
156,
11
]
} |
Remarkably, abrogating MITF activity in BRAF(V600E)mitf melanoma leads to dramatic tumor regression marked by melanophage infiltration and increased apoptosis. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
40,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
83,
5
]
} |
We examined children who were diagnosed with asymptomatic type 2 diabetes by school medical examinations to investigate the existence of glucokinase (GCK) gene defects in this group. | NA | {
"id": 2645,
"name": "GCK",
"pos": [
150,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
45,
12
]
} |
Tissue Xpert™ MTB/Rif assay is of limited use in diagnosing peritoneal tuberculosis in patients with exudative ascites. | NA | {
"id": 4498,
"name": "MT1JP",
"pos": [
14,
3
]
} | {
"id": "C0041325",
"name": "Peritonitis, Tuberculous",
"pos": [
60,
23
]
} |
Our data suggest that efficient clonal expansion of virus-specific CD4(+) T cells in patients with HAM/TSP does not simply reflect higher viral burden but rather reflects a rapid turnover caused by preferential infection and/or in vivo stimulation by major histocompatibility complex-peptide complexes. | NA | {
"id": 920,
"name": "CD4",
"pos": [
67,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
138,
12
]
} |
Here, we show that the ABL kinase inhibitors imatinib, nilotinib, and GNF-5 impede invadopodium precursor formation and cortactin-phosphorylation dependent invadopodium maturation, leading to decreased actin polymerization in invadopodia, reduced extracellular matrix degradation, and impaired matrix proteolysis-dependent invasion. | biomarker | {
"id": 2017,
"name": "CTTN",
"pos": [
120,
9
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
323,
8
]
} |
When we examined the genomic DNA of G-CSFR obtained from 41 patients with acute myelogenous leukemia (AML), 18 with chronic myelogenous leukemia (CML), 7 with myelodysplastic syndrome (MDS), 2 with chronic myelomonocytic leukemia and 1 with chronic neutrophilic leukemia, we found a polymorphism in 3 patients, but no significant pathogenic mutations in any patients. | NA | {
"id": 1436,
"name": "CSF1R",
"pos": [
38,
4
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
116,
28
]
} |
FRA6E shares many similarities with FRA3B (3p14.2) and FRA16D (16q23.2) in representing a large region of genomic instability and containing an extremely large gene that may play a role in the development of ovarian and many other cancers. | NA | {
"id": 2463,
"name": "FRA16D",
"pos": [
55,
6
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
106,
19
]
} |
The above results indicated that p38 MAPK signaling pathway participated in regulating GLT-1 during OGD injury in vitro. | biomarker | {
"id": 10598,
"name": "AHSA1",
"pos": [
33,
3
]
} | {
"id": "C0432283",
"name": "Osteoglophonic dwarfism",
"pos": [
100,
3
]
} |
Using mice that express GFP under the FSP1 or αSMA promoter, we characterized two non-overlapping fibroblast subtypes from mouse hearts after myocardial infarction. | biomarker | {
"id": 51062,
"name": "ATL1",
"pos": [
38,
4
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
142,
21
]
} |
This may result in these families being erroneously classified as Lynch syndrome, or conversely, an individual is considered "sporadic" due to the presence of a somatic BRAF mutation in a tumour. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
169,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
188,
6
]
} |
The findings suggest that the systemic inflammatory response to acute exercise is different in lean compared to overweight and obese subjects, with a more pronounced increase in inflammatory markers (e.g., IL-6, IL-8, and TNF-α) in overweight and obese individuals. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
212,
4
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
232,
10
]
} |
These tumors are characterized byrearrangement of the NUT (nuclear protein in testis) gene on chromosome 15q14, which in most cases fuses to the bromodomain containing 4 (BRD4) gene on chromosome 19 p13.1 through reciprocal t(15;19) translocation, resulting in constitutive BRD4-NUTfusion protein expression. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
199,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
233,
13
]
} |
P185(HER2/neu) receptors and signaling from them and associated molecules increase motility of both intravasating and extravasating cells, decrease apoptosis, enhance signaling interactions with the microenvironment, regulate adhesion, as well as a multitude of other functions. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
5,
8
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
226,
8
]
} |
The addition of an anti-PD-1/PD-L1 agent, such as pembrolizumab, durvalumab or atezolizumab, to combined BRAF and MEK inhibition has shown considerable promise, with several trials ongoing in metastatic melanoma. | biomarker | {
"id": 29126,
"name": "CD274",
"pos": [
29,
5
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
192,
19
]
} |
Taken together, our results indicate that the inhibition of STAT5 by IL-1β may be a promising treatment strategy to eradicate leukemia stem cells in AML. | biomarker | {
"id": 6776,
"name": "STAT5A",
"pos": [
60,
5
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
149,
3
]
} |
In humans, the LCK gene is located at the breakpoint of the t(1;7)(p34;q34) chromosomal translocation. | NA | {
"id": 3932,
"name": "LCK",
"pos": [
15,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
76,
25
]
} |
These results suggest that HBXIP may play an important role in tumorigenesis by enhancing angiogenesis in HCC. | NA | {
"id": 10542,
"name": "LAMTOR5",
"pos": [
27,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
63,
13
]
} |
We tested the hypothesis that men of African descent who lack DARC expression are at increased risk of prostate cancer. | NA | {
"id": 2532,
"name": "ACKR1",
"pos": [
62,
4
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
103,
15
]
} |
mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction. | therapeutic | {
"id": 2886,
"name": "GRB7",
"pos": [
69,
4
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
142,
13
]
} |
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. | NA | {
"id": 9856,
"name": "KIAA0319",
"pos": [
30,
18
]
} | {
"id": "C1848201",
"name": "Subcortical Band Heterotopia",
"pos": [
74,
31
]
} |
Whether monoallelic MUTYH mutations increase female breast cancer risk remains controversial. | genomic_alterations | {
"id": 4595,
"name": "MUTYH",
"pos": [
20,
5
]
} | {
"id": "C0235653",
"name": "Malignant neoplasm of female breast",
"pos": [
45,
20
]
} |
Recently, functional polymorphisms in the COMT and CYP17A1 genes have been suggested as a susceptible marker for intrauterine fetal growth restriction, a typical complication of preeclampsia. | NA | {
"id": 1586,
"name": "CYP17A1",
"pos": [
51,
7
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
178,
12
]
} |
This report of an interphase cytogenetic analysis of non-invasive breast carcinoma in situ demonstrates the usefulness of FISH for the genetic study of breast cancer progression. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
122,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
152,
13
]
} |
The frequency of a penta-allelic 86-bp tandem repeat (VNTR) in the intron 2 of IL-1ra gene in 67 lean (BMI<25 kg/m2), 133 overweight (BMI 25-29.9 kg/m2) and 61 obese (BMI>or=30 kg/m2) otherwise healthy Korean subjects was investigated. | genomic_alterations | {
"id": 3557,
"name": "IL1RN",
"pos": [
79,
6
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
163,
5
]
} |
Further, genetic variation in the genes encoding galanin and its receptors could be associated with altered susceptibility to opiate dependence. | genomic_alterations | {
"id": 51083,
"name": "GAL",
"pos": [
49,
7
]
} | {
"id": "C0524662",
"name": "Opiate Addiction",
"pos": [
126,
17
]
} |
A small expansion of a CAG repeat domain in exon 47 of the human CACNA1A gene, which codes for the pore-forming alpha1A subunit of P/Q-type Ca2+ channels, causes spinocerebellar ataxia type-6. | NA | {
"id": 11189,
"name": "CELF3",
"pos": [
23,
17
]
} | {
"id": "C0087012",
"name": "Ataxia, Spinocerebellar",
"pos": [
162,
22
]
} |
However, the association between COP1 and cancer remains to be determined. | biomarker | {
"id": 64326,
"name": "COP1",
"pos": [
33,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
42,
6
]
} |
Endostatin gene therapy stimulates upregulation of ICAM-1 and VCAM-1 in a metastatic renal cell carcinoma model. | biomarker | {
"id": 7412,
"name": "VCAM1",
"pos": [
62,
6
]
} | {
"id": "C0278678",
"name": "Metastatic Renal Cell Cancer",
"pos": [
74,
31
]
} |
Tumor specimens from a subset of postmenopausal patients with hormone receptor-positive early-stage (stages I, II, and IIIA) breast cancer, who were enrolled in the randomized double-blind Arimidex, Tamoxifen, Alone or in Combination (ATAC) clinical trial, were genotyped for variants in CYP2D6 (N = 1203 patients: anastrozole [trade name: Arimidex] group, n = 615 patients; tamoxifen group, n = 588 patients) and UDP-glucuronosyltransferase-2B7 (UGT2B7), whose gene product inactivates endoxifen (N = 1209 patients; anastrozole group, n = 606 patients; tamoxifen group, n = 603 patients). | NA | {
"id": 6375,
"name": "XCL1",
"pos": [
235,
4
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
183,
5
]
} |
OPG has been hypothesized to modulate vascular functions; however, its role in mediating atherosclerosis is controversial. | biomarker | {
"id": 4982,
"name": "TNFRSF11B",
"pos": [
0,
3
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
89,
15
]
} |
The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome. | genomic_alterations | {
"id": 7227,
"name": "TRPS1",
"pos": [
71,
5
]
} | {
"id": "C1857276",
"name": "Trichohepatoenteric Syndrome",
"pos": [
237,
12
]
} |
Expression of E4 34k alone was not sufficient to dissociate the ligase IV/XRCC4 complex, which indicates a requirement for an additional, as yet unidentified, factor in E1B 55k-independent dissociation of the ligase IV/XRCC4 complex. | NA | {
"id": 7518,
"name": "XRCC4",
"pos": [
219,
5
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
189,
12
]
} |
Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade myopia, deafness and low molecular weight proteinuria. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
29,
3
]
} | {
"id": "C0020534",
"name": "Orbital separation excessive",
"pos": [
99,
13
]
} |
Lithium, an activator of the WNT pathway, sensitized TP53 mutant medulloblastoma to radiation (SF2 of 43.5%±1.5% in lithium treated cells vs. 56.6±3% (p<0.01)) accompanied by increased number of γH2AX foci. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
53,
4
]
} | {
"id": "C0278510",
"name": "Childhood Medulloblastoma",
"pos": [
65,
15
]
} |
These results suggest that galectin-1 might play an important role in endometriosis pathology and infertility profile of women suffering from endometriosis by being at the same time regulated by CRH and UCN interfering in the immune disequilibrium which characterizes this pathological condition. | NA | {
"id": 7349,
"name": "UCN",
"pos": [
203,
3
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
98,
11
]
} |
HAM/TSP patients had higher PVL (ranging from 11,041 to 317,009 copies/10(6) PBMC) when compared to asymptomatic individuals (ranging from 0 to 68,228 copies/10(6) PBMC). | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
4,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
100,
12
]
} |
Pro-opiomelanocortin (POMC)-derived peptides (the melanocortins adrenocorticotropin, alpha-, beta- and gamma-melanocyte stimulating hormone; and the endogenous opioid beta-endorphin) have a diverse array of biological activities, including roles in pigmentation, adrenocortical function and regulation of energy stores, and in the immune system and the central and peripheral nervous systems. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
167,
14
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
249,
12
]
} |
The production of GRP may contribute to the aggressive behaviour of LCC. | NA | {
"id": 2922,
"name": "GRP",
"pos": [
18,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
44,
20
]
} |
The results suggested that the MASA-PCR system has potential for development as a simple, rapid and noninvasive method for diagnosing the presence of colorectal tumors that carry mutant K-ras alleles, particularly tumors located in the distal colon. | NA | {
"id": 58478,
"name": "ENOPH1",
"pos": [
31,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
214,
6
]
} |
There may be a correlation between T2DM and polymorphism of HPA-1-3. | genomic_alterations | {
"id": 10855,
"name": "HPSE",
"pos": [
60,
5
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
35,
4
]
} |
Monocyte alveolar, but not upper airway, epithelial cell networks in pulmonary tuberculosis cause AP-1-, NF-IL-6-, and NFkappaB-dependent CCL5 secretion. | NA | {
"id": 2353,
"name": "FOS",
"pos": [
98,
4
]
} | {
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
69,
22
]
} |
We have developed a diphtheria toxin-based anti-human CD19 immunotoxin for targeting human CD19<sup>+</sup> tumors. | biomarker | {
"id": 930,
"name": "CD19",
"pos": [
54,
4
]
} | {
"id": "C0012546",
"name": "Diphtheria",
"pos": [
20,
10
]
} |
Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia. | genomic_alterations | {
"id": 1991,
"name": "ELANE",
"pos": [
28,
5
]
} | {
"id": "C1853118",
"name": "Severe congenital neutropenia",
"pos": [
81,
29
]
} |
In a mouse model of contact hypersensitivity, a single topical administration of a selective EGFR kinase blocker before antigen challenge results in a markedly enhanced immune response with increased chemokine expression and heavier inflammatory cell infiltrate. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
93,
4
]
} | {
"id": "C0162351",
"name": "Contact hypersensitivity",
"pos": [
20,
24
]
} |
In this study, we investigated the protective effects of PEA-15 on neuronal damage induced by MPP(+) in neuroblastoma SH-SY5Y and BV2 microglia cells and in a MPTP-induced PD mouse model using cell-permeable PEP-1-PEA-15. | biomarker | {
"id": 5550,
"name": "PREP",
"pos": [
208,
3
]
} | {
"id": "C4086165",
"name": "Childhood Neuroblastoma",
"pos": [
104,
13
]
} |
We describe a previously independent T11 paraplegic patient who had delayed-onset hand weakness and recurrent pneumonia caused by myotonic dystrophy. | NA | {
"id": 914,
"name": "CD2",
"pos": [
37,
3
]
} | {
"id": "C0027126",
"name": "Myotonic Dystrophy",
"pos": [
130,
18
]
} |
We also investigated 7 Northern Irish patients with mild hyperphenylalaninaemia not requiring dietary intervention (MHP, previously referred to as non-PKU HPA). | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
155,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
52,
4
]
} |
In conclusion, our findings show miRNA dysregulation in malignant melanoma and its relation to established molecular backgrounds of BRAF and NRAS oncogenic mutations. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
141,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
56,
18
]
} |
Although conditionally replicable adenovirus (CRAd) has been used in the clinical treatment of hepatocellular carcinoma (HCC), it suffers from the inherent drawback of having relatively low antitumor activity. | NA | {
"id": 57482,
"name": "CRACD",
"pos": [
46,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
34,
10
]
} |
The affinities of Ins (1,3,4,5)P4 to the wild type (Kd = 40 nM), and several XLA-causing mutants have been measured using isothermal titration calorimetry. | genomic_alterations | {
"id": 2305,
"name": "FOXM1",
"pos": [
18,
6
]
} | {
"id": "C0221026",
"name": "X-linked agammaglobulinemia",
"pos": [
77,
3
]
} |
Early recovery in AST and inhibition of progress of fibrosis in Q-e-I group was probably due to the anti-inflammatory and antioxidant activity of its ingredients. | NA | {
"id": 2805,
"name": "GOT1",
"pos": [
18,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
52,
8
]
} |
FISH studies performed on other histologic subtypes of lung cancer (10 squamous cell carcinomas, 10 adenocarcinomas, and 10 small-cell carcinomas) failed to show MYB rearrangement. | NA | {
"id": 4602,
"name": "MYB",
"pos": [
162,
3
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
55,
11
]
} |
These findings provide a framework to suggest a mechanism whereby chronic heart failure leads to skeletal muscle pathologies; prolonged dysregulation of the molecular clock in skeletal muscle results in altered Clock, Pgc1α and Myod1 expression which in turn leads to the mis-regulation of target genes important for mechanical and metabolic function of skeletal muscle. | NA | {
"id": 4654,
"name": "MYOD1",
"pos": [
228,
5
]
} | {
"id": "C0264716",
"name": "Chronic heart failure",
"pos": [
66,
21
]
} |
The present study suggests that the critical region associated with Dandy-Walker malformation is restricted to 7p21.3, including the cerebellar disease associated genes NDUFA4 and PHF14. | genomic_alterations | {
"id": 4697,
"name": "NDUFA4",
"pos": [
169,
6
]
} | {
"id": "C0007760",
"name": "Cerebellar Diseases",
"pos": [
133,
18
]
} |
These studies demonstrate the power of SKY, CGH, and G-banding to resolve the full spectrum of chromosomal rearrangements in serous ovarian adenocarcinoma. | NA | {
"id": 57465,
"name": "TBC1D24",
"pos": [
39,
3
]
} | {
"id": "C0948216",
"name": "Ovarian adenocarcinoma",
"pos": [
132,
22
]
} |
The changes in eye fundi, visual acuity, cataract changes in the lens, visual field constriction, and ERG responses were determined. | NA | {
"id": 2078,
"name": "ERG",
"pos": [
102,
3
]
} | {
"id": "C0235095",
"name": "Visual field constriction",
"pos": [
71,
25
]
} |
It was uncertain whether an algorithm that involves increasing insulin dosages by 1 unit/day may cause more hypoglycemia with the longer-acting insulin glargine 300 units/mL (GLA-300). | genomic_alterations | {
"id": 2717,
"name": "GLA",
"pos": [
175,
3
]
} | {
"id": "C0020615",
"name": "Hypoglycemia",
"pos": [
108,
12
]
} |
SNP B19, identified in 58% of tumor samples and in 4 cell lines (LS174T, LS180, SW48, COLO205), was associated with higher PDGFR and pPDGFR protein levels. | NA | {
"id": 59271,
"name": "EVA1C",
"pos": [
4,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
30,
5
]
} |
PTEN sensitizes prostate cancer cells to death receptor-mediated and drug-induced apoptosis through a FADD-dependent pathway. | biomarker | {
"id": 8772,
"name": "FADD",
"pos": [
102,
4
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
16,
15
]
} |
H19 non coding RNA-derived miR-675 enhances tumorigenesis and metastasis of breast cancer cells by downregulating c-Cbl and Cbl-b. | NA | {
"id": 868,
"name": "CBLB",
"pos": [
124,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
76,
13
]
} |
In addition, chronic hypoxia induced activation of autophagy in the brains of both Wt and Tg mice, and compared to the normal autophagic flux in Wt mice, the autophagic flux was impaired in the brains of H-Tg mice with a large amount of autophagic vacuole accumulation and significant high level of P62. | NA | {
"id": 51164,
"name": "DCTN4",
"pos": [
299,
3
]
} | {
"id": "C0544966",
"name": "Autophagic vaculoes (finding)",
"pos": [
237,
18
]
} |
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