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|---|---|---|---|
To explore the role of different signaling pathways in Epo-mediated antiapoptotic effects in differentiated human neuroblastoma SH-SY5Y cells, we employed a prolactin receptor (PrlR)/erythropoietin receptor (EpoR) chimera system, in which binding of prolactin (Prl) to the extracellular domain activates EpoR signaling in the cytosol.
|
NA
|
{
"id": 5618,
"name": "PRLR",
"pos": [
177,
4
]
}
|
{
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
114,
13
]
}
|
Neointima formation in response to arterial injury and IGF-1R phosphorylation in neointima increased significantly in LAR(-/-) mice compared with wild-type mice.
|
NA
|
{
"id": 5792,
"name": "PTPRF",
"pos": [
118,
3
]
}
|
{
"id": "C4553639",
"name": "Arterial Injury, CTCAE",
"pos": [
35,
15
]
}
|
Collectively, these findings highlight a novel tumor-suppressive role of SAMD9L inactivation by somatic mutation and decreased expression in human HBV-related HCC.
|
NA
|
{
"id": 219285,
"name": "SAMD9L",
"pos": [
73,
6
]
}
|
{
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
96,
16
]
}
|
Genetic deficiency of adenosine deaminase (ADA) results in varying degrees of immunodeficiency, including neonatal onset severe combined immunodeficiency (ADA- SCID) and milder, later onset immunodeficiency.
|
NA
|
{
"id": 100,
"name": "ADA",
"pos": [
155,
3
]
}
|
{
"id": "C1855106",
"name": "Neonatal onset",
"pos": [
106,
14
]
}
|
CBL encodes a multivalent adaptor protein with ubiquitin ligase activity, which promotes ubiquitylation and vesicle-mediated internalization and degradation of the epidermal growth factor (EGF) receptor (EGFR).
|
NA
|
{
"id": 867,
"name": "CBL",
"pos": [
0,
3
]
}
|
{
"id": "C3814530",
"name": "Skin Vesicle",
"pos": [
108,
7
]
}
|
Raised plasma levels of CRP, IL-6 and fibrinogen were demonstrated in COPD patients.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
29,
4
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
38,
10
]
}
|
We identified a novel inherited germline TP53 mutation affecting the acceptor splice site at intron 10 in a child with an ACT and no family history of cancer.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
41,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
151,
6
]
}
|
ABL regulation by AXL promotes cisplatin resistance in esophageal cancer.
|
biomarker
|
{
"id": 558,
"name": "AXL",
"pos": [
18,
3
]
}
|
{
"id": "C0546837",
"name": "Malignant neoplasm of esophagus",
"pos": [
55,
17
]
}
|
Induction of ectopic E7 in breast carcinoma cells has been proposed to decrease transcription of S100P gene, which encodes a calcium-binding protein associated with different types of tumors.
|
NA
|
{
"id": 6286,
"name": "S100P",
"pos": [
97,
10
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
184,
6
]
}
|
The contribution to dyslipidemia of 20 selected single nucleotide polymorphisms of 13 genes reported in the literature to be associated with plasma lipid levels (ABCA1, ADRB2, APOA5, APOC3, APOE, CETP, LIPC, LIPG, LPL, MDR1, MTP, SCARB1, and TNF) was assessed by longitudinally modeling more than 4400 plasma lipid determinations in 438 antiretroviral therapy-treated participants during a median period of 4.8 years.
|
genomic_alterations
|
{
"id": 4490,
"name": "MT1B",
"pos": [
225,
3
]
}
|
{
"id": "C0242339",
"name": "Dyslipidemias",
"pos": [
20,
12
]
}
|
We report a case of PGA in a 6-year-old girl with the NOD2 E383K gene substitution.
|
genomic_alterations
|
{
"id": 64127,
"name": "NOD2",
"pos": [
54,
4
]
}
|
{
"id": "C0085409",
"name": "Polyendocrinopathies, Autoimmune",
"pos": [
20,
3
]
}
|
Phosphodiesterase 4D gene polymorphism is associated with ischaemic and haemorrhagic stroke.
|
NA
|
{
"id": 5144,
"name": "PDE4D",
"pos": [
0,
25
]
}
|
{
"id": "C0553692",
"name": "Brain hemorrhage",
"pos": [
72,
19
]
}
|
Cluster headache is associated with the G1246A polymorphism in the hypocretin receptor 2 gene.
|
genomic_alterations
|
{
"id": 3062,
"name": "HCRTR2",
"pos": [
67,
21
]
}
|
{
"id": "C0009088",
"name": "Cluster Headache",
"pos": [
0,
16
]
}
|
C-terminal HSP90 inhibitor L80 elicits anti-metastatic effects in triple-negative breast cancer via STAT3 inhibition.
|
biomarker
|
{
"id": 6774,
"name": "STAT3",
"pos": [
100,
5
]
}
|
{
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
66,
29
]
}
|
Delivery of OX40L to human monocytes using a recombinant replication-defective adenovirus led to greater expansion, up-regulation of perforin, enhanced cytolytic activity, and increased numbers of IFN-gamma- and TNF-alpha-producing antiviral memory CD8 T cells in cultures of total T cells.
|
NA
|
{
"id": 7292,
"name": "TNFSF4",
"pos": [
12,
5
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
79,
10
]
}
|
Pretreatment with AAV-MANF reduced the volume of cerebral infarction and facilitated behavioral recovery in stroke rats.
|
NA
|
{
"id": 17,
"name": "AAVS1",
"pos": [
18,
3
]
}
|
{
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
108,
6
]
}
|
The functional genotype GSTT1-1 was significantly associated with increased risk of LEAD given smoking after adjustment for other risk factors.
|
NA
|
{
"id": 2952,
"name": "GSTT1",
"pos": [
24,
5
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
95,
7
]
}
|
Examination of the correlation of these latter 8 SNPs to true or dissecting aortic aneurysm separately showed that rs1465567 [T/C (W229R)] of the EGF-like, fibronectin type III, and laminin G domains gene (EGFLAM) (dominant model; P=0.0014; odds ratio, 1.63) was significantly (P<0.0016) associated with true aortic aneurysm.
|
genomic_alterations
|
{
"id": 1950,
"name": "EGF",
"pos": [
146,
3
]
}
|
{
"id": "C0012736",
"name": "Dissecting aortic aneurysm",
"pos": [
65,
26
]
}
|
Interestingly, knockdown of rat STIM1 by adenovirus delivery of small interfering RNA (siRNA) significantly suppressed neointimal hyperplasia in a rat carotid artery balloon injury model at 14 days after injury.
|
NA
|
{
"id": 6786,
"name": "STIM1",
"pos": [
32,
5
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
41,
10
]
}
|
Group 1 target genes are up-regulated during the normal window of implantation but significantly decreased in women with endometriosis: IL-15, proline-rich protein, B61, Dickkopf-1, glycodelin, N-acetylglucosamine-6-O-sulfotransferase, G0S2 protein, and purine nucleoside phosphorylase.
|
NA
|
{
"id": 4860,
"name": "PNP",
"pos": [
254,
31
]
}
|
{
"id": "C0014175",
"name": "Endometriosis",
"pos": [
121,
13
]
}
|
Mean Ki67 LI increased from endometriosis (8.4%) through atypical endometriosis (21.4%) to CCA (46.9%), with statistical significance between each component (P < 0.01, each).
|
NA
|
{
"id": 4288,
"name": "MKI67",
"pos": [
5,
4
]
}
|
{
"id": "C0014175",
"name": "Endometriosis",
"pos": [
28,
13
]
}
|
The transactivation function of the variant MAMLD1 proteins was quantified by the luciferase method.TWO NEW MUTATIONS WERE IDENTIFIED: p.S143X (c.428C>A) in a patient with scrotal hypospadias with microphallus and p.P384L (c.1151C>T) in a patient with penile hypospadias with microphallus.
|
NA
|
{
"id": 10046,
"name": "MAMLD1",
"pos": [
44,
6
]
}
|
{
"id": "C0240701",
"name": "Small penis",
"pos": [
276,
12
]
}
|
The pharmacologically or genetically induced Nrf2 activity clearly decreased RVH and pulmonary vascular remodeling in the hypoxic PH model.
|
NA
|
{
"id": 2551,
"name": "GABPA",
"pos": [
45,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
122,
7
]
}
|
In the 7 May 2019 issue of <i>Science Signaling</i>, Kuo <i>et al.</i> report that polycystin 2 (PC2), encoded by a gene mutated in type 2 autosomal dominant polycystic kidney disease (ADPKD), contributes to cystogenesis by affecting MFN2, thus extending the role of mitochondria-ER contact sites to a common genetic disorder.
|
genomic_alterations
|
{
"id": 5311,
"name": "PKD2",
"pos": [
121,
3
]
}
|
{
"id": "C0085413",
"name": "Polycystic Kidney, Autosomal Dominant",
"pos": [
163,
44
]
}
|
Furthermore, expression of beta-catenin and the fibrosis-associated protein EMMPRIN were localized by immunohistochemistry to the plasma membranes of hepatocytes and biliary epithelium.
|
NA
|
{
"id": 682,
"name": "BSG",
"pos": [
76,
7
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
48,
8
]
}
|
Based on these preliminary results, the aim of this study was to correlate glioblastoma locations with the expression of ten selected genes (VEGFC, FLT4, MET, HGF, CHI3L1, PROM1, NOTCH1, DLL3, PDGFRA, BCAN).
|
NA
|
{
"id": 10683,
"name": "DLL3",
"pos": [
187,
4
]
}
|
{
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
75,
12
]
}
|
Taken together, our results suggest that HO-1 has a critical role in the modulation of peritoneal fibrosis, and, more important, the suppression of EMT.
|
NA
|
{
"id": 3162,
"name": "HMOX1",
"pos": [
41,
4
]
}
|
{
"id": "C0521607",
"name": "Peritoneal Fibrosis",
"pos": [
87,
19
]
}
|
Strain GM3498, but not GM4408, exhibits a high frequency of spontaneous sister chromatid exchange, hypersensitivity to ethyl methanesulphonate and an anomalously low level of DNA ligase I activity.
|
NA
|
{
"id": 3978,
"name": "LIG1",
"pos": [
175,
12
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
99,
16
]
}
|
We use mathematical modelling to predict that autoregulation within the pathway accentuates the effects of trisomy of DSCR1 and DYRK1A, leading to failure to activate NFATc target genes under specific conditions.
|
NA
|
{
"id": 1827,
"name": "RCAN1",
"pos": [
118,
5
]
}
|
{
"id": "C0041107",
"name": "Trisomy",
"pos": [
107,
7
]
}
|
Establishment and characterization of CRISPR/Cas9-mediated NF2<sup>-/-</sup> human mesothelial cell line: Molecular insight into fibroblast growth factor receptor 2 in malignant pleural mesothelioma.
|
biomarker
|
{
"id": 2263,
"name": "FGFR2",
"pos": [
141,
35
]
}
|
{
"id": "C0812413",
"name": "Malignant Pleural Mesothelioma",
"pos": [
180,
30
]
}
|
To study the effect of Roux-en-Y gastric bypass (RYGB) surgery on endogenous spexin concentration and various risk factors of type 2 diabetes and cardiovascular disease in youth with severe obesity.
|
biomarker
|
{
"id": 80763,
"name": "SPX",
"pos": [
77,
6
]
}
|
{
"id": "C0007222",
"name": "Cardiovascular Diseases",
"pos": [
146,
22
]
}
|
Pleiotropic function of SRY-related HMG box transcription factor 4 in regulation of tumorigenesis.
|
NA
|
{
"id": 6736,
"name": "SRY",
"pos": [
24,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
84,
13
]
}
|
This suggests an involvement of innate mechanisms, in preventing AIDS-defining opportunistic infections in HIV infection and further suggests, that CD4(+) absolute counts alone, may be inadequate to explain differences in the clinical outcome.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
148,
3
]
}
|
{
"id": "C0029118",
"name": "Opportunistic Infections",
"pos": [
79,
24
]
}
|
In the PFC lesion group, no significant differences in aggression were observed between carriers of the 2 MAO-A alleles, whereas in the non-PFC lesion group higher aggression was observed in the high-activity allele than in the low-activity allele carriers.
|
NA
|
{
"id": 5199,
"name": "CFP",
"pos": [
140,
3
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
164,
10
]
}
|
However, in patients with PSC, cholestasis, and bacterial cholangitis, the CA19-9 level can be affected by variants in the fucosyltransferases 2 and 3 genes (FUT2 and FUT3), which regulate the production of CA19-9.
|
NA
|
{
"id": 2524,
"name": "FUT2",
"pos": [
158,
4
]
}
|
{
"id": "C0275553",
"name": "Bacterial cholangitis",
"pos": [
48,
21
]
}
|
Of 20 cases studied, we detected gene abnormalities in 16: API2-MALT1 fusion in 9, trisomy 3 in 5, trisomy 18 in 4, MALT1 abnormality in 13, and IGH abnormality in 1.
|
NA
|
{
"id": 3492,
"name": "IGH",
"pos": [
145,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
38,
13
]
}
|
The genes involved in the last 2 pathways are the p53, serine threonine protein kinase 15 (STK15), triple-function domain (TRIO), fragile histidine triad (FHIT), p63 genes; and alterations of 20q and 5p, alterations of adhesions, angiogenesis, and matrix-remodeling gene products also are involved.
|
NA
|
{
"id": 2272,
"name": "FHIT",
"pos": [
155,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
219,
9
]
}
|
Mice homozygous for the disrupted allele (Sim2 -/-) exhibit a cleft of the secondary palate and malformations of the tongue and pterygoid processes of the sphenoid bone.
|
NA
|
{
"id": 6493,
"name": "SIM2",
"pos": [
42,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
96,
13
]
}
|
To characterize the T-cell antigen receptor (TCR) V beta expression in autologous cytotoxic effectors we isolated CD3+ CD8+ CD4- cells from cultures of TIL and tumour-associated lymphocytes (TAL) and analysed the TCR V beta repertoire of CD3+ CD8+ CD4- lines of known HLA-A, -B and -C phenotype, using polymerase chain reaction (PCR).
|
NA
|
{
"id": 90678,
"name": "LRSAM1",
"pos": [
191,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
160,
6
]
}
|
Increases of vascular endothelial growth factor (VEGF), hypoxia induced factor (HIF), and ubiquitin are found in ocular hemangioblastomas.Interestingly, tumorlet cells, which are composed of poorly differentiated small cells with prominent dark nuclei and little cytoplasm, as well as several stem cell markers, such as erythropoietin (Epo), Epo receptor (EpoR), and CD133, are present in ocular VHL lesions.
|
NA
|
{
"id": 8842,
"name": "PROM1",
"pos": [
367,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
56,
7
]
}
|
Logistic regression analysis revealed that SSA was the polyp type that shared most biomarkers with SAC.
|
NA
|
{
"id": 55811,
"name": "ADCY10",
"pos": [
99,
3
]
}
|
{
"id": "C0032584",
"name": "polyps",
"pos": [
55,
5
]
}
|
These three families each had one PPH+,DR3+ member, with an immunoglobulin isotype deficiency, one with IgA and two with mild IgG.
|
NA
|
{
"id": 8718,
"name": "TNFRSF25",
"pos": [
39,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
121,
4
]
}
|
Effects of manganese superoxide dismutase silencing on androgen receptor function and gene regulation: implications for castration-resistant prostate cancer.
|
therapeutic
|
{
"id": 367,
"name": "AR",
"pos": [
55,
17
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
141,
15
]
}
|
In this study we were able to show that N-cadherin expression in melanoma cells is dependent on ILK signaling and the translocation of β-catenin to the nucleus.
|
NA
|
{
"id": 1000,
"name": "CDH2",
"pos": [
40,
10
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
118,
13
]
}
|
These data demonstrate that the neurodegenerative cascade associated with a primary tauopathy in tau transgenic mice can also promote TDP-43 abnormalities.
|
NA
|
{
"id": 23435,
"name": "TARDBP",
"pos": [
134,
6
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
141,
13
]
}
|
Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia.
|
NA
|
{
"id": 875,
"name": "CBS",
"pos": [
23,
3
]
}
|
{
"id": "C0743332",
"name": "Focal Dystonia",
"pos": [
174,
14
]
}
|
COX-2 polymorphisms -765G-->C and -1195A-->G and colorectal cancer risk.
|
genomic_alterations
|
{
"id": 5743,
"name": "PTGS2",
"pos": [
0,
5
]
}
|
{
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
55,
17
]
}
|
In this work we demonstrated, for the first time, that Bcl-2 overexpression in cancer cells exposed to hypoxia modulates urokinase plasminogen activator receptor (uPAR) expression through Sp1 transcription factor and that the extracellular signal-regulated kinase (ERK) pathway plays a role in Sp1 transcriptional activity.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
265,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
103,
7
]
}
|
The expression of circadian clock genes, including circadian locomotor output cycles kaput (Clock), brain and muscle Arnt-like protein-1 (Bmal1), period (Per)1/2, and cryptochrome (Cry)1/2, and the proline and acidic amino acid-rich basic leucine zipper (PAR bZip) genes, a transcriptional activator of Per2, including D site of albumin promoter binding protein (Dbp), hepatic leukaemia factor (Hlf), and thyrotroph embryonic factor (Tef), and a transcriptional repressor of Per2, E4-binding protein 4 (E4bp4), in TNF-α-stimulated synovial cells was determined by real-time polymerase chain reaction (PCR).
|
NA
|
{
"id": 4783,
"name": "NFIL3",
"pos": [
503,
5
]
}
|
{
"id": "C0023418",
"name": "leukemia",
"pos": [
377,
9
]
}
|
During sustained hypoxia, a natural antisense transcript of hypoxia-inducible factor 1 (aHIF) is expressed.
|
NA
|
{
"id": 100750247,
"name": "HIF1A-AS2",
"pos": [
88,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
17,
7
]
}
|
Another aim of this review article is to address recent data regarding the association of genetic variations (polymorphisms) of IL-10 and Chlamydia infections.
|
genomic_alterations
|
{
"id": 3586,
"name": "IL10",
"pos": [
128,
5
]
}
|
{
"id": "C0008149",
"name": "Chlamydia Infections",
"pos": [
138,
20
]
}
|
We found that female, but not male, subjects with BDNF genotype A/A have high scores in reward dependence on TCI and high scores in extraversion on NEO-PI as compared with other genotypes (G/A or G/G), suggesting an association between reward dependence (or extraversion) personality traits and BDNF genotype in female subjects.
|
NA
|
{
"id": 627,
"name": "BDNF",
"pos": [
295,
4
]
}
|
{
"id": "C0233849",
"name": "Personality Traits",
"pos": [
272,
18
]
}
|
We aimed to evaluate the relationship between 174 promoter region of the interleukin-6 (IL-6) C/G gene polymorphism and high sensitive C-reactive protein (hs-CRP), fibrinogen and carotis intima-media thickness (CIMT), body mass index, homeostatic model assessment (HOMA) insulin resistance index, serum lipid parameters, in polycystic ovary syndrome (PCOS) patients carrying a potential risk for developing cardiovascular disease (CVD).
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
88,
4
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
164,
10
]
}
|
Morphometric and biochemical analyses at 28 days indicated impairment in cardiac performance, with greater scar thinning and infarct expansion in nontransgenic versus elafin transgenic littermates (P < 0.05 for all comparisons).
|
NA
|
{
"id": 5266,
"name": "PI3",
"pos": [
167,
6
]
}
|
{
"id": "C2004491",
"name": "Cicatrix",
"pos": [
107,
4
]
}
|
Previous studies of CFC1 (CRYPTIC), another member of the EGF-CFC family, demonstrated that normal function of this protein is required for proper laterality development in humans.
|
NA
|
{
"id": 55997,
"name": "CFC1",
"pos": [
26,
7
]
}
|
{
"id": "C1720777",
"name": "Functional Laterality",
"pos": [
147,
10
]
}
|
Research has increasingly focused on the role of the cyclic adenosine monophosphate (cAMP) response element binding (CREB) protein in learning and memory, particularly its role in cognitive disorders and neurodegeneration, such as Huntington's disease, Alzheimer's disease, Rubinstein-Taybi syndrome, and Coffin-Lowry syndrome.
|
NA
|
{
"id": 1385,
"name": "CREB1",
"pos": [
117,
4
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
204,
17
]
}
|
Expression of BVES and POPDC3 was downregulated in 73% of the gastric cancer cell lines and in 69% (BVES) and 87% (POPDC3) of the gastric cancer tissues.
|
NA
|
{
"id": 11149,
"name": "BVES",
"pos": [
100,
4
]
}
|
{
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
130,
14
]
}
|
The expression levels of MAP4K5, E-cadherin, vimentin, and carboxylesterase 2 (CES2) were examined by immunohistochemistry in 105 PDAC and matched non-neoplastic pancreas samples from our institution.
|
NA
|
{
"id": 11183,
"name": "MAP4K5",
"pos": [
25,
6
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
147,
14
]
}
|
There was also a differential distribution of early endosomes, and altered endosomal traffic and signaling of the transferrin receptors (TFRC and TFR2) in prostate cancer cells.
|
NA
|
{
"id": 7036,
"name": "TFR2",
"pos": [
146,
4
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
155,
15
]
}
|
Different CD14 polymorphisms have been associated with atopic phenotypes in infants.
|
NA
|
{
"id": 929,
"name": "CD14",
"pos": [
10,
4
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
55,
6
]
}
|
To investigate the possible interaction between alcohol intake and the -159C/T polymorphism in the promoter region of the CD14 gene for serum IgE levels.
|
NA
|
{
"id": 929,
"name": "CD14",
"pos": [
122,
9
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
48,
14
]
}
|
We measured the plasma level of brain natriuretic peptide (BNP) to determine whether BNP might serve as a simple diagnostic indicator of anthracycline-induced cardiotoxicity in patients with acute leukemia treated with a daunorubicin (DNR)-containing regimen.
|
NA
|
{
"id": 4879,
"name": "NPPB",
"pos": [
85,
3
]
}
|
{
"id": "C0085669",
"name": "Acute leukemia",
"pos": [
191,
14
]
}
|
We verify that recombinant human myotrophin produces cardiomyocyte hypertrophy, and we demonstrate for the first time that elevated levels of myotrophin/V-1 protein mRNA are expressed in human dilated cardiomyopathic hearts.
|
NA
|
{
"id": 136319,
"name": "MTPN",
"pos": [
153,
3
]
}
|
{
"id": "C4227331",
"name": "Cardiomyocyte hypertrophy",
"pos": [
53,
25
]
}
|
Therefore, have investigated whether or not the expression levels, of selected genes [tumor necrosis factor-α (TNFα), interleukin 6 (IL-6), adiponectin, leptin, C-reactive protein (CRP), parathyroid hormone (PTH), tumor protein 53 (TP53) and erythroblastic leukemia viral oncogene 2 (ErbB2)] were altered in blood samples of lean, overweight/obese and breast cancer subjects.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
181,
3
]
}
|
{
"id": "C0497406",
"name": "Overweight",
"pos": [
331,
10
]
}
|
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus.
|
genomic_alterations
|
{
"id": 2213,
"name": "FCGR2B",
"pos": [
79,
6
]
}
|
{
"id": "C0014060",
"name": "Encephalitis, St. Louis",
"pos": [
21,
3
]
}
|
To study the human migration inhibitory factor (MIF) level in tuberculosis (TB) patients, and the relationship between MIF-794CATT microsatellite polymorphism and susceptibility of TB in Southwest China.
|
NA
|
{
"id": 268,
"name": "AMH",
"pos": [
119,
3
]
}
|
{
"id": "C0041296",
"name": "Tuberculosis",
"pos": [
62,
12
]
}
|
Patient 4 showed no specific syndromal pattern and was found to have a cryptic unbalanced de novo translocation of the terminal parts of chromosomes 7q and 9p by subtelomere FISH.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
174,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
98,
13
]
}
|
Norepinephrine infusion increased blood pressure to a similar extent as angiotensin II infusion (179 +/- 5 and 189 +/- 4 mm Hg, respectively).
|
therapeutic
|
{
"id": 183,
"name": "AGT",
"pos": [
72,
14
]
}
|
{
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
24,
24
]
}
|
The identified genes and pathways were in concordance with the demonstration of hyperglycemia, glucose intolerance, attenuated insulin-stimulated phosphorylation of Akt and impaired glucose uptake in the transgenic heterozygous Tg-ROR alpha 1 Delta DE animals.
|
NA
|
{
"id": 100885779,
"name": "LINC-ROR",
"pos": [
231,
3
]
}
|
{
"id": "C0271650",
"name": "Impaired glucose tolerance",
"pos": [
95,
19
]
}
|
This pilot study enrolled children with fever without source and compared PD-L1 expression on myeloid cells to C-reactive protein, erythrocyte sedimentation rate, leukocyte counts, S100A12, S100A8, S100A9, calprotectin, and procalcitonin.
|
NA
|
{
"id": 6283,
"name": "S100A12",
"pos": [
181,
7
]
}
|
{
"id": "C0015967",
"name": "Fever",
"pos": [
40,
5
]
}
|
To examine the relationship of current engagement in lifestyle activities to previous cognitive performance among individuals who were cognitively normal at baseline, and whether this relationship differed for individuals who subsequently developed mild cognitive impairment (MCI), or by APOE-4 genotype, age, and level of cognitive reserve.
|
genomic_alterations
|
{
"id": 348,
"name": "APOE",
"pos": [
288,
6
]
}
|
{
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
249,
25
]
}
|
In patients with KRAS wild-type tumors (n = 116), BRAF mutations (n = 5) were weakly associated with lack of response (P = .063) but were strongly associated with shorter progression-free survival (P < .001) and shorter overall survival (OS; P < .001).
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
50,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
32,
6
]
}
|
We conducted a population-based study to investigate the relationship between candidate genes for obesity (UCP1, UCP2, ADRA2B, ADRB3, LEPR, VDR and ESR1) and adiposity measures (body mass index, body fat percentage, weight, waist circumference and waist-hip ratio) in terms of individual gene and gene x gene interaction in models unadjusted and adjusted for covariates (age, years since menopause, educational level and total energy intake).
|
NA
|
{
"id": 151,
"name": "ADRA2B",
"pos": [
119,
6
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
216,
6
]
}
|
It is suggested that the whole-cell pertussis present in DTP vaccine, acting as an excessive stimulus in these patients, produced symptoms reminiscent of biologic responses to circulating proinflammatory monokines such as IL-1beta, TNF-alpha, and IL-6 because earlier it was reported that in vitro the whole-cell vaccine induced significantly more such cytokine production than did the acellular pertussis or diphtheria-tetanus-only vaccine.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
247,
4
]
}
|
{
"id": "C0012546",
"name": "Diphtheria",
"pos": [
409,
10
]
}
|
Our study assessed the association between ACE I>D, MTHFR C677T, MTHFR 1298A/C, GPx-1 rs1050450, CAT -262C/T, GSTM1, GSTT1, and IL-10 -1082G/A polymorphisms and DN risk.
|
genomic_alterations
|
{
"id": 3586,
"name": "IL10",
"pos": [
131,
5
]
}
|
{
"id": "C0011882",
"name": "Diabetic Neuropathies",
"pos": [
164,
2
]
}
|
Quantitative MLH1 promoter region methylation using pyrosequencing is superior to BRAF codon 600 mutation status in identifying constitutional mutations in mismatch repair deficient tumours.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
82,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
182,
7
]
}
|
We assessed the relationship between interleukin-6 (IL-6) promoter -174 polymorphism and spontaneous preterm birth (sPTB) less than 34 weeks and the relationship of polymorphism status with race.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
52,
4
]
}
|
{
"id": "C3827961",
"name": "Spontaneous Preterm Birth",
"pos": [
89,
25
]
}
|
Exaggereative immune system causing higher expression of B cell associated markers (CD19) leading to autoimmune condition in POF.
|
genomic_alterations
|
{
"id": 930,
"name": "CD19",
"pos": [
84,
4
]
}
|
{
"id": "C0025322",
"name": "Premature Menopause",
"pos": [
125,
3
]
}
|
After intensive chemotherapy, marrow cells of some patients with Philadelphia chromosome (Ph1) positive chronic myelogenous leukemia (CML) become partially or completely Ph1-negative.
|
NA
|
{
"id": 189,
"name": "AGXT",
"pos": [
170,
3
]
}
|
{
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
104,
28
]
}
|
Our results demonstrate the direct oncogenicity of Rac1 and ROS and their contribution to a KS-like malignant phenotype, further underscoring the carcinogenic potential of oxidative stress in the context of chronic infection and inflammation.
|
NA
|
{
"id": 5879,
"name": "RAC1",
"pos": [
51,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
229,
12
]
}
|
A comprehensive genetic analysis of 310 MB samples was performed by screening for TP53 mutations and further relating the TP53 mutation status to p53 immunostaining, cytogenetic aberrations, and clinical variables.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
146,
3
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
166,
23
]
}
|
Quantitative analysis of early gadolinium-enhanced MRI revealed a mild but significant left-hemispheric blood-brain barrier (BBB) opening limited to the cortex and preceding cortical edema.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
51,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
66,
4
]
}
|
Fluorescence activated cell sorting of immune cells infiltrating the metaplasia identified a population of CD11b+Gr-1+ cells that are significantly reduced in K14-Cdx2::L2-IL-1β mice.
|
NA
|
{
"id": 3684,
"name": "ITGAM",
"pos": [
107,
5
]
}
|
{
"id": "C0025568",
"name": "Metaplasia",
"pos": [
69,
10
]
}
|
High serum AFP levels, motor and sensory axonal neuropathy, and marked cerebellar atrophy on MRI were detected in all the patients who underwent these examinations.
|
NA
|
{
"id": 174,
"name": "AFP",
"pos": [
11,
3
]
}
|
{
"id": "C1842587",
"name": "Sensory axonal neuropathy",
"pos": [
33,
25
]
}
|
Co-culture of resveratrol-induced CD11b(+) Gr-1(+) cells with T cells, attenuated T cell proliferation, and most importantly reduced IFN-γ and GM-CSF production by LP derived T cells from vehicle treated IL-10(-/-) mice with chronic colitis.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
133,
3
]
}
|
{
"id": "C0267375",
"name": "Chronic colitis",
"pos": [
225,
15
]
}
|
The MTCP1 gene is involved in the t(X;14)(q28;q11) translocation associated with these T-cell proliferations.
|
NA
|
{
"id": 4515,
"name": "MTCP1",
"pos": [
4,
10
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
51,
13
]
}
|
Pathology confirmed paraganglioma with neuroendocrine cells arranged in "zellballen" architecture and strong immunopositivity for chromogranin and synaptophysin in the neuroendocrine cells and S100 immunopositivity in the sustentacular cells.
|
biomarker
|
{
"id": 6285,
"name": "S100B",
"pos": [
193,
4
]
}
|
{
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
20,
13
]
}
|
Abnormal laboratory values associated with delirium included: Albumin (p = 0.03; odds ratio [OR], 7.94, 95% confidence interval [CI], 1.1-63.20), Calcium (p = 0.01; OR, 4.95; 95% CI, 1.5-16.7), Sodium (p = 0.04; OR, 3.91; 95% CI, 1.13-13.5), hematocrit (p = 0.04), and mean corpuscular hemoglobin concentration (p < 0.05; OR, 5.29; 95% CI, 1.19-23.46).
|
biomarker
|
{
"id": 213,
"name": "ALB",
"pos": [
62,
7
]
}
|
{
"id": "C0011206",
"name": "Delirium",
"pos": [
43,
8
]
}
|
The girl's brain magnetic resonance imaging (MRI) findings, including pachygyria and severe cerebellar hypoplasia, were identical to those seen with RELN point mutations.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
45,
3
]
}
|
{
"id": "C0266470",
"name": "Cerebellar Hypoplasia",
"pos": [
92,
21
]
}
|
In a case-control study on the causes of deep venous thrombosis, the Leiden Thrombophilia Study (LETS), we genotyped 18 single nucleotide polymorphisms (SNPs) in IL1B, IL1RN, IL1R1, and IL1R2, enabling us to tag a total of 25 haplotype groups.
|
NA
|
{
"id": 3557,
"name": "IL1RN",
"pos": [
168,
5
]
}
|
{
"id": "C0149871",
"name": "Deep Vein Thrombosis",
"pos": [
41,
22
]
}
|
The odds ratio of IL-10 -1082 AA genotype was 2.5 (95% CI, 1.0-6.4) for food allergy risk when compared with atopic control subjects (p = 0.03).
|
NA
|
{
"id": 3586,
"name": "IL10",
"pos": [
18,
5
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
109,
6
]
}
|
The expression of CD97, a member of the EGF-TM7 family with adhesive properties, is proportional to the aggressiveness and lymph node involvement in thyroid tumors.
|
NA
|
{
"id": 976,
"name": "ADGRE5",
"pos": [
18,
4
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
104,
14
]
}
|
We then measured baseline concentrations of cholesterol, triglycerides, HDL cholesterol, apolipoprotein AI, apolipoprotein B, uric acid, and uric acid excretion; we also performed homeostasis model assessments of insulin resistance and insulin sensitivity.
|
NA
|
{
"id": 338,
"name": "APOB",
"pos": [
108,
16
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
236,
19
]
}
|
IGF2R could be considered as a promising candidate for novel biomarker and therapeutic target for human bladder cancer.
|
biomarker
|
{
"id": 3482,
"name": "IGF2R",
"pos": [
0,
5
]
}
|
{
"id": "C0005684",
"name": "Malignant neoplasm of urinary bladder",
"pos": [
104,
14
]
}
|
The A allele of the RAGE gene promoter polymorphism -374 A/T was associated with higher indices of insulin resistance in young infant formula-fed, but not breast-fed children.
|
NA
|
{
"id": 177,
"name": "AGER",
"pos": [
20,
4
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
99,
18
]
}
|
Furthermore, patients with tumors showing a combination of c-erbB-2 gene amplification and DNA aneuploidy had the poorest prognosis.
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
59,
13
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
95,
10
]
}
|
Repeated doses of rh-HGF increased the liver weight and serum albumin, and reduced serum ALT.
|
NA
|
{
"id": 3082,
"name": "HGF",
"pos": [
21,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
45,
6
]
}
|
Clinical relevance of residual disease monitoring by polymerase chain reaction in patients with ALL-1/AF-4 positive-acute lymphoblastic leukaemia.
|
NA
|
{
"id": 4299,
"name": "AFF1",
"pos": [
102,
4
]
}
|
{
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
22,
16
]
}
|
Combining the anti-HER2 antibody trastuzumab with taxanes in breast cancer: results and trial considerations.
|
therapeutic
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
19,
5
]
}
|
{
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
61,
13
]
}
|
When compared to the CD34-negative population, CD34/CD2 expression identified a subgroup with characteristic features: M3 variant subtype (26 vs 7 % in the negative group, p = 0.02), bcr3 transcript subtype (73 vs 32 %, p = 0.001), high risk according to the risk of relapse (66 vs 17 %, p = 0.002), high incidence of differentiation syndrome (26 vs 12 %, p = 0.01), lower overall survival (88 vs 95 %), and a significantly higher rate of relapse (22 vs 13.8 %, p = 0.05).
|
NA
|
{
"id": 914,
"name": "CD2",
"pos": [
52,
3
]
}
|
{
"id": "C0860564",
"name": "Retinoic acid syndrome",
"pos": [
318,
24
]
}
|
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