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|---|---|---|---|
To the best of our knowledge, the present study demonstrated for first time that stimulation of a glioblastoma multiforme (GBM) cell line (U87-MG) with hepatocyte growth factor (HGF) resulted in the phosphorylation of STAT5 at Tyr-694/699 and nuclear translocation of STAT5.
|
NA
|
{
"id": 677775,
"name": "SCARNA5",
"pos": [
139,
3
]
}
|
{
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
98,
23
]
}
|
Recepteur d'origine nantais (RON) is a receptor tyrosine kinase closely related to MET and involved in tumorigenesis.
|
NA
|
{
"id": 4233,
"name": "MET",
"pos": [
83,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
103,
13
]
}
|
Protein S mRNA and secreted protein were found in 11 of 12 cell lines of nonsmall cell lung carcinoma (NSCLC) origin and in normal bronchial epithelial cells, but they were found in only 4 of 10 small cell lung carcinoma (SCLC) cell lines.
|
NA
|
{
"id": 5627,
"name": "PROS1",
"pos": [
0,
9
]
}
|
{
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
195,
25
]
}
|
Adult height was significantly and inversely associated with CAC score (P = 0.01).
|
NA
|
{
"id": 788,
"name": "SLC25A20",
"pos": [
61,
3
]
}
|
{
"id": "C0489786",
"name": "Height",
"pos": [
6,
6
]
}
|
CQCQD increased caspase-3 activity over the ANP group at the 6 h. CQCQD can induce apoptosis and relieve the necrosis of pancreatic acinar cells via promoting the release of mitochondrial cytochrome c and increasing pancreatic caspase-3 activity in ANP rats.
|
NA
|
{
"id": 4878,
"name": "NPPA",
"pos": [
249,
3
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
109,
8
]
}
|
Fluorescence in situ hybridization was negative for CCND1 abnormalities, but demonstrated a CCND2/IGL fusion.
|
NA
|
{
"id": 3535,
"name": "IGL",
"pos": [
98,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
58,
13
]
}
|
The homozygous variants of hOGG1 G2657A, APEX1 D148E and XRCC1 R194W polymorphisms all showed a weak but significant effect on overall survival as demonstrated by either log rank test or multivariate COX regression after adjusting for other potential confounders.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
200,
3
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
204,
10
]
}
|
After intervention with XFC, E and the AI were decreased; pulmonary function was enhanced; the structure of alveolar type-II cells was improved; and expression of Treg, Notch1, Jagged1, Jagged2 was elevated, whereas that of Notch3, Notch4 and Delta1 was reduced.
|
NA
|
{
"id": 4854,
"name": "NOTCH3",
"pos": [
224,
6
]
}
|
{
"id": "C3160731",
"name": "Pulmonary function (finding)",
"pos": [
58,
18
]
}
|
This translocation is believed to result in the expression of a fusion protein containing the catalytic domain of anaplastic lymphoma kinase (ALK) under the control of the promoter for nucleophosmin, a nucleolar phosphoprotein.
|
NA
|
{
"id": 238,
"name": "ALK",
"pos": [
142,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
5,
13
]
}
|
Tumours of appendix, including classic carcinoid tumour (CCT), goblet cell carcinoid (GCC), low-grade appendiceal mucinous neoplasm, high-grade appendiceal mucinous neoplasm/mucinous carcinoma (MCA) and non-mucinous adenocarcinoma (NMA), show different and sometimes mixed morphological features.
|
NA
|
{
"id": 25805,
"name": "BAMBI",
"pos": [
232,
3
]
}
|
{
"id": "C0007095",
"name": "Carcinoid Tumor",
"pos": [
75,
9
]
}
|
The acute promyelocytic leukaemia (APL) 15;17 translocation generates a PML/RAR alpha chimeric gene which is transcribed as a fusion PML/RAR alpha mRNA.
|
NA
|
{
"id": 10966,
"name": "RAB40B",
"pos": [
137,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
46,
13
]
}
|
Both ex vivo cellular proliferation and in vivo growth of s.c. transplanted tumors in mice are reduced in U87TR-Da cells with DACH1 expression (U87-DACH1-high), compared with DACH1-nonexpressing U87TR-Da cells (U87-DACH1-low).
|
NA
|
{
"id": 677775,
"name": "SCARNA5",
"pos": [
211,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
76,
6
]
}
|
CD26/DPPIV is a widely distributed multifunctional integral membrane and secreted protein that is defined as early predictive biomarker in HIV, cancer and autoimmunity diseases like diabetes and multiple sclerosis.
|
biomarker
|
{
"id": 1803,
"name": "DPP4",
"pos": [
5,
5
]
}
|
{
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
195,
18
]
}
|
ACE I/D gene polymorphism can't predict the steroid responsiveness in Asian children with idiopathic nephrotic syndrome: a meta-analysis.
|
genomic_alterations
|
{
"id": 1636,
"name": "ACE",
"pos": [
0,
5
]
}
|
{
"id": "C1704321",
"name": "Nephrotic Syndrome, Minimal Change",
"pos": [
90,
29
]
}
|
First-line afatinib was also effective in patients with certain uncommon EGFR mutation and patients with central nervous system metastasis.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
73,
4
]
}
|
{
"id": "C0686377",
"name": "CNS metastases",
"pos": [
105,
33
]
}
|
Three groups of 10 animals each were used: lean Fa/fa lean group (LG) rats, a control fa/fa obese group (OG) of rats, and an obese supplemented fa/fa proanthocyanidins obese group (POG) of rats, which were supplemented with a dose of 35 mg GSPE/kg of body weight/day during the 68 days of experimentation.
|
NA
|
{
"id": 55120,
"name": "FANCL",
"pos": [
181,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
251,
11
]
}
|
HLA-DR3 transgenic mice immunized with adenovirus encoding the thyrotropin receptor: T cell epitopes and functional analysis of the CD40 Graves' polymorphism.
|
NA
|
{
"id": 958,
"name": "CD40",
"pos": [
132,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
39,
10
]
}
|
However, inverse correlations were identified between CD8 responses and CD4 counts in asymptomatic progressors and between CD4 responses and viral loads in progressors.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
123,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
86,
12
]
}
|
The FES group showed relative reductions in left hippocampal volume that were comparable only to TLE patients with seizures originating from the left hemisphere.
|
NA
|
{
"id": 2242,
"name": "FES",
"pos": [
4,
3
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
115,
8
]
}
|
Soft tissue sarcomas with non-EWS translocations: molecular genetic features and pathologic and clinical correlations.
|
genomic_alterations
|
{
"id": 2130,
"name": "EWSR1",
"pos": [
30,
3
]
}
|
{
"id": "C4551687",
"name": "Sarcoma of soft tissue",
"pos": [
0,
20
]
}
|
The phenotypic characterization of 1769 LDLR mutation carriers (ADH-1) revealed that in both sexes independent predictors of the presence of tendon xanthomas were age, the quintiles of LDL cholesterol, the presence of coronary heart disease (CHD) and of receptor negative mutations.
|
genomic_alterations
|
{
"id": 124,
"name": "ADH1A",
"pos": [
64,
5
]
}
|
{
"id": "C3888506",
"name": "LDLR mutation",
"pos": [
40,
13
]
}
|
We examined the participation of trefoil factor family 1 (TFF1), which is critical for mucosal protection and tumor suppression in the stomach, in the development and progression of ICC.
|
genomic_alterations
|
{
"id": 7031,
"name": "TFF1",
"pos": [
58,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
110,
5
]
}
|
Plasma ACTH and beta-END levels were significantly lower in females than males of all age and drinking category groups.
|
NA
|
{
"id": 5443,
"name": "POMC",
"pos": [
7,
4
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
94,
8
]
}
|
We performed direct sequencing of all 10 exons of the FSHR gene in seven sporadic patients and two sisters with 46,XX pure gonadal dysgenesis, to investigate the cause of their disorder.
|
NA
|
{
"id": 2492,
"name": "FSHR",
"pos": [
54,
9
]
}
|
{
"id": "C0687149",
"name": "Pure gonadal dysgenesis",
"pos": [
118,
23
]
}
|
Of the pure GGOs, 9 (25%) nodules were classified as AIS, 10 (27.8%) nodules were classified as MIA and 22 (57.9%) of the mGGOs were lung cancer.
|
biomarker
|
{
"id": 260402,
"name": "IS1",
"pos": [
53,
3
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
133,
11
]
}
|
Since approximately half of all colon cancers (predominately cancers with microsatellite instability) are p53-normal, we assessed the anticancer activity of the Mdm2 inhibitor Nutlin-3 in the mouse azoxymethane (AOM) colon cancer model, in which p53 remains wild type.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
246,
3
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
74,
26
]
}
|
Both the RB1 gene and p53 have been proposed to act as tumor-suppressor genes, suggesting that, in this instance, tumorigenesis is the result of the loss of gene function of these two genes, rather than a gain of function.
|
NA
|
{
"id": 5925,
"name": "RB1",
"pos": [
9,
8
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
114,
13
]
}
|
Potential therapeutic applications for GPR18 include intraocular pressure, metabolic disorders, and cancer.
|
biomarker
|
{
"id": 2841,
"name": "GPR18",
"pos": [
39,
5
]
}
|
{
"id": "C0595921",
"name": "Intraocular pressure disorder",
"pos": [
53,
20
]
}
|
Our in vitro studies demonstrated that pretreatment of endometrial (HEC-1A) and endocervical (End1/E6E7) ECs with human Tr-expressing adenovirus (Ad/Tr) or recombinant Tr/E proteins before or after HSV-2 infection resulted in significantly reduced virus titers compared to those of controls.
|
NA
|
{
"id": 10403,
"name": "NDC80",
"pos": [
68,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
134,
10
]
}
|
We assessed the involvement of stress response protein cold-inducible RNA-binding protein (Cirp) in the development of intestinal inflammation and CAC.
|
NA
|
{
"id": 1153,
"name": "CIRBP",
"pos": [
55,
34
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
130,
12
]
}
|
We thus identified three genes that are induced by hypoxia in a human pancreatic cancer, including GPI/NLK/AMF, which was not previously known to be hypoxia inducible in any other system.
|
NA
|
{
"id": 2821,
"name": "GPI",
"pos": [
107,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
149,
7
]
}
|
A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.
|
NA
|
{
"id": 84530,
"name": "SRRM4",
"pos": [
18,
10
]
}
|
{
"id": "C0011053",
"name": "Deafness",
"pos": [
69,
8
]
}
|
In this study, we considered the association between the serotonin receptor 1A (HTR1A) and 2C (HTR2C) SNPs and personality traits, as measured by the Temperament and Character Inventory (TCI), in a sample of suicide patients and healthy volunteers.
|
NA
|
{
"id": 3358,
"name": "HTR2C",
"pos": [
95,
5
]
}
|
{
"id": "C0038661",
"name": "Suicide",
"pos": [
208,
7
]
}
|
The metabolic changes associated with SCD1 deficiency protect cardiac myocytes against both necrotic and apoptotic cell death and improve heart function.
|
NA
|
{
"id": 6319,
"name": "SCD",
"pos": [
38,
4
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
92,
8
]
}
|
Hypoxic preconditioning induces stroke tolerance in mice via a cascading HIF, sphingosine kinase, and CCL2 signaling pathway.
|
therapeutic
|
{
"id": 6347,
"name": "CCL2",
"pos": [
100,
4
]
}
|
{
"id": "C0238281",
"name": "Middle Cerebral Artery Syndrome",
"pos": [
32,
6
]
}
|
The components of PI3-K/Akt kinase signaling pathway are expressed in most of the primary endometrioid-type endometrial neoplasms.
|
NA
|
{
"id": 5266,
"name": "PI3",
"pos": [
18,
3
]
}
|
{
"id": "C0014170",
"name": "Endometrial Neoplasms",
"pos": [
108,
21
]
}
|
The combination of the HtrA1 and CFH risk alleles increased AMD susceptibility, as did the combination of the HtrA1 risk allele with smoking.
|
NA
|
{
"id": 3075,
"name": "CFH",
"pos": [
33,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
133,
7
]
}
|
The inherited thrombophilia, gene polymorphisms of coagulation and anticoagulation factor such as thrombomodulin, endothelial protein C receptor, plasminogen activator inhibitor 1, and factor XIII; human lymphocyte antigen (HLA-G); detoxification enzymes (glutathione- S-transferase M1); cytokines such as interleukin (IL) -1 and IL-6; hormones (CYP17); vasodilators (nitric oxide synthase 3); and vitamins (transcobalamin) are involved in the pathogenesis of sporadic and recurrent miscarriage.
|
NA
|
{
"id": 3135,
"name": "HLA-G",
"pos": [
224,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
460,
8
]
}
|
This study is the first to demonstrate a role for δGABA<sub>A</sub>Rs specifically in PV-expressing interneurons in modulating binge alcohol intake and withdrawal-induced anxiety.
|
biomarker
|
{
"id": 5816,
"name": "PVALB",
"pos": [
98,
2
]
}
|
{
"id": "C0003469",
"name": "Anxiety Disorders",
"pos": [
183,
7
]
}
|
Use of the metallothionein promoter-human growth hormone-releasing hormone (GHRH) mouse to identify regulatory pathways that suppress pituitary somatotrope hyperplasia and adenoma formation due to GHRH-receptor hyperactivation.
|
NA
|
{
"id": 2691,
"name": "GHRH",
"pos": [
76,
4
]
}
|
{
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
156,
11
]
}
|
SMC APOE ε4+ show abnormal changes in amyloid and tau biomarkers, but no hypometabolism or MTL neurodegeneration, reflecting the at-risk nature of the SMC group and the importance of APOE in mediating this risk.
|
NA
|
{
"id": 54808,
"name": "DYM",
"pos": [
151,
3
]
}
|
{
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
38,
7
]
}
|
Specifically, after its entry, IGA causes a decrease in the mitochondrial potential, triggers translocation of nm23-H1, a granzyme A-dependent DNase, from the cytoplasm to the nucleus, where it causes single-strand DNA nicks, thus causing cell death.
|
NA
|
{
"id": 973,
"name": "CD79A",
"pos": [
31,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
94,
13
]
}
|
We have characterized the human caspase-8 gene promoter and studied the transcriptional regulation of caspase-8 gene expression in MCF-7 breast tumor cells treated with IFN-gamma.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
169,
3
]
}
|
{
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
137,
12
]
}
|
BACKGROUND: The p53 and phosphoinositide-3-kinase, catalytic, alpha polypeptide/v-akt murine thymoma viral oncogene homolog/mechanistic target of rapamycin (PIK3CA/AKT/mTOR) pathways frequently are altered in sarcoma with complex genomics, such as leiomyosarcoma (LMS) or undifferentiated pleomorphic sarcoma (UPS).
|
NA
|
{
"id": 2475,
"name": "MTOR",
"pos": [
124,
31
]
}
|
{
"id": "C0023269",
"name": "leiomyosarcoma",
"pos": [
248,
14
]
}
|
Together, our data provide evidence that the loss of ABI3BP expression could play a functional role in thyroid tumorigenesis.
|
NA
|
{
"id": 25890,
"name": "ABI3BP",
"pos": [
53,
6
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
111,
13
]
}
|
Of the 30 paired blood and tumor samples, we identified recurrent mutations in 11 genes; confirmed previous findings for FAT1 (4/30), HRAS (4/30), NOTCH1 (4/30), TP53 (3/30) and PIK3CA (3/30); and revealed novel candidate driver genes [CASP8 (4/30), SLITRK2 (3/30), FLG (3/30) and TRRAP (3/30)].
|
genomic_alterations
|
{
"id": 3265,
"name": "HRAS",
"pos": [
134,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
27,
5
]
}
|
Moreover, in invasive ADC with BAC component, microdissection assays showed that mutations were retrieved in both tumor subtypes suggesting that EGFR mutations appear early in lung carcinogenesis.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
145,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
114,
5
]
}
|
These findings illustrate that the P2X5-encoded mHAg LRH-1 could be an attractive target for specific immunotherapy to treat hematological malignancies recurring after allogeneic stem cell transplantation.
|
biomarker
|
{
"id": 100533970,
"name": "P2RX5-TAX1BP3",
"pos": [
35,
4
]
}
|
{
"id": "C0376545",
"name": "Hematologic Neoplasms",
"pos": [
125,
26
]
}
|
Moreover, SGK1 expression is exquisitely sensitive to hypertonicity, hyperglycemia, and ischemia.
|
NA
|
{
"id": 6446,
"name": "SGK1",
"pos": [
10,
4
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
88,
8
]
}
|
Sulforaphane (SFN), an isothiocyanate phytochemical present predominantly in cruciferous vegetables such as brussels sprout and broccoli, is considered a promising chemo-preventive agent against cancer.
|
NA
|
{
"id": 25996,
"name": "REXO2",
"pos": [
14,
3
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
195,
6
]
}
|
Exogenous IFN-γ was found to induce MD-2 mRNA, MD-2 cell surface expression, and LPS responsiveness as determined by p65 translocation to the nucleus and production of IL-6, CXCL1, and CXCL8/IL-8.
|
NA
|
{
"id": 23643,
"name": "LY96",
"pos": [
47,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
121,
13
]
}
|
The mean florescence intensity (MFI) of CD58 but not of CD2 was twofold higher on CD56<sup>+</sup> cells during VL, but was down-regulated after treatment.
|
biomarker
|
{
"id": 965,
"name": "CD58",
"pos": [
40,
4
]
}
|
{
"id": "C0023290",
"name": "Leishmaniasis, Visceral",
"pos": [
124,
2
]
}
|
Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD).
|
genomic_alterations
|
{
"id": 65018,
"name": "PINK1",
"pos": [
13,
5
]
}
|
{
"id": "C1868675",
"name": "PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE",
"pos": [
38,
6
]
}
|
Compared to the respective control groups, NPY treatment via any method of administration increased the relative infarct volume.
|
NA
|
{
"id": 4852,
"name": "NPY",
"pos": [
43,
3
]
}
|
{
"id": "C0021308",
"name": "Infarction",
"pos": [
113,
7
]
}
|
The effect of CHC (MCT inhibitor) and MCT1 silencing was assessed in in vitro and in vivo glioblastoma models.
|
biomarker
|
{
"id": 1215,
"name": "CMA1",
"pos": [
38,
4
]
}
|
{
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
90,
12
]
}
|
To evaluate the course of pregnancy and puerperium in asymptomatic carriers of FV Leiden and FII prothrombin mutation in heterozygous configuration in terms of risk of thrombembolic disease (TED) and late pregnancy complications.
|
NA
|
{
"id": 27112,
"name": "FAM155B",
"pos": [
191,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
54,
12
]
}
|
Acne inversa (AI; MIM 142690), or hidradenitis suppurativa (HS), is a type of autosomal-dominant genodermatosis caused by mutations in γ-secretase.
|
NA
|
{
"id": 9788,
"name": "MTSS1",
"pos": [
18,
3
]
}
|
{
"id": "C0037277",
"name": "Skin Diseases, Genetic",
"pos": [
97,
14
]
}
|
While orthotopic implantations of MONC- 1 parental cells in nude mice generated various tumor types, such as NB, osteo/ chondrosarcoma, and undifferentiated tumors, due to v-Myc oncogenic activity, MONC-1-ALK-F1174L cells only produced undifferentiated tumors.
|
NA
|
{
"id": 238,
"name": "ALK",
"pos": [
205,
3
]
}
|
{
"id": "C0008479",
"name": "Chondrosarcoma",
"pos": [
120,
14
]
}
|
A meta-analysis of genotypes and haplotypes of methylenetetrahydrofolate reductase gene polymorphisms in acute lymphoblastic leukemia.
|
genomic_alterations
|
{
"id": 4524,
"name": "MTHFR",
"pos": [
47,
35
]
}
|
{
"id": "C1961102",
"name": "Precursor Cell Lymphoblastic Leukemia Lymphoma",
"pos": [
105,
28
]
}
|
GDP-l-fucose synthase is a CD4<sup>+</sup> T cell-specific autoantigen in DRB3*02:02 patients with multiple sclerosis.
|
genomic_alterations
|
{
"id": 3125,
"name": "HLA-DRB3",
"pos": [
86,
4
]
}
|
{
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
111,
18
]
}
|
By metaphase FISH analysis, the neoplastic cells demonstrated the presence of two molecularly different but related aberrant clones, one with the loss of one ALK allele and the second with translocation of the 3'end of ALK kinase domain on the der(3) chromosome.
|
NA
|
{
"id": 238,
"name": "ALK",
"pos": [
158,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
189,
13
]
}
|
IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated.
|
biomarker
|
{
"id": 112935892,
"name": "LINC02605",
"pos": [
0,
4
]
}
|
{
"id": "C0015544",
"name": "Failure to Thrive",
"pos": [
151,
17
]
}
|
Interaction of apolipoprotein E genotype with smoking and physical inactivity on coronary heart disease risk in men and women.
|
genomic_alterations
|
{
"id": 348,
"name": "APOE",
"pos": [
15,
16
]
}
|
{
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
81,
22
]
}
|
Decoy receptor 2 (DcR2) was highly expressed in patients with normal cytogenetic status as compared to those with cytogenetic aberrations (p = 0.005).
|
NA
|
{
"id": 8793,
"name": "TNFRSF10D",
"pos": [
18,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
114,
23
]
}
|
CD163(+) TAMs in oral premalignant lesions coexpress CD163 and STAT1, suggesting that the TAMs in oral premalignant lesions possess an M1 phenotype in a Th1-dominated micromilieu.
|
NA
|
{
"id": 51497,
"name": "NELFCD",
"pos": [
153,
3
]
}
|
{
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
103,
12
]
}
|
Heparin-binding epidermal growth factor-like growth factor (HB-EGF) plays a role in blastocyst implantation and is down-regulated in preeclampsia and in hypertensive pregnancy disorders associated with defective extravillous trophoblast invasion.
|
NA
|
{
"id": 1839,
"name": "HBEGF",
"pos": [
0,
39
]
}
|
{
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
133,
12
]
}
|
In HESC, KLF9 and PGR coregulated components of the WNT, cytokine, and IGF gene networks that are implicated in endometriosis and infertility.
|
NA
|
{
"id": 687,
"name": "KLF9",
"pos": [
9,
4
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
130,
11
]
}
|
The impacts of sequence differences in the HLA-A*02-restricted HCV NS31406-1415 epitope on in vitro priming of naive CD8+ T cells from seronegative donors and cross-reactivity of primed T cells with other epitope variants were characterized.
|
genomic_alterations
|
{
"id": 3105,
"name": "HLA-A",
"pos": [
43,
5
]
}
|
{
"id": "C0019196",
"name": "Hepatitis C",
"pos": [
63,
3
]
}
|
A comparison of consistency of detecting BRAF gene mutations in peripheral blood and tumor tissue of nonsmall-cell lung cancer patients.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
41,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
85,
5
]
}
|
PPL Therapeutics is developing transgenic alpha-1-antitrypsin for the treatment of cystic fibrosis lung disease and other conditions in which connective tissue is broken down irreversibly.
|
NA
|
{
"id": 5493,
"name": "PPL",
"pos": [
0,
3
]
}
|
{
"id": "C0392164",
"name": "Pulmonary Cystic Fibrosis",
"pos": [
83,
20
]
}
|
Compared with individuals in the lowest GRS quartile, those in the highest quartile had 1.80-fold higher odds of subclinical hypothyroidism (95% confidence interval, 1.27-2.55) and 1.89-fold higher odds of overt hypothyroidism (95% confidence interval, 1.24-2.87).
|
NA
|
{
"id": 597,
"name": "BCL2A1",
"pos": [
40,
3
]
}
|
{
"id": "C0271790",
"name": "Subclinical hypothyroidism",
"pos": [
113,
26
]
}
|
However, an effective therapy against IDH1-mutated solid tumor remains unavailable.
|
genomic_alterations
|
{
"id": 3417,
"name": "IDH1",
"pos": [
38,
4
]
}
|
{
"id": "C0280099",
"name": "Adult Solid Neoplasm",
"pos": [
51,
11
]
}
|
We evaluated the performance of a multiprobe FISH (fluorescence in situ hybridization) assay for noninvasive detection of upper urinary tract transitional cell carcinoma (UUT-TCC) in patients with asymptomatic hematuria and negative urine cytology.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
45,
4
]
}
|
{
"id": "C0007138",
"name": "Carcinoma, Transitional Cell",
"pos": [
142,
27
]
}
|
Angiotensin-converting-enzyme inhibitors and angiotensin II receptor blockers induced pemphigus: A case series and literature review.
|
biomarker
|
{
"id": 183,
"name": "AGT",
"pos": [
45,
14
]
}
|
{
"id": "C0030807",
"name": "Pemphigus",
"pos": [
86,
9
]
}
|
GRB10 knock-down in human pancreatic islets showed reduced insulin and glucagon secretion, which together with changes in insulin sensitivity may explain the paradoxical reduction of glucose despite a decrease in insulin secretion.
|
NA
|
{
"id": 2887,
"name": "GRB10",
"pos": [
0,
5
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
122,
19
]
}
|
The parameters determined were the levels of CD4+, CD19+, CD19+ CD69+, CD19+ av, Treg (CD4 + CD25 + CD127lo), BGP, TRAP, IL-17, calcium, phosphate, blood urea nitrogen, serum creatinine (SCr), hemoglobin (Hb) in peripheral blood, and urinary creatinine.
|
NA
|
{
"id": 930,
"name": "CD19",
"pos": [
71,
4
]
}
|
{
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
193,
10
]
}
|
ST2L activation by its ligand IL-33 has been implicated in Th2-mediated immunity, inflammation, and allergic responses in vivo.
|
NA
|
{
"id": 9173,
"name": "IL1RL1",
"pos": [
0,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
82,
12
]
}
|
The peroxisome proliferator-activated receptor-γ2 (PPARγ2) participates in the regulation of insulin sensitivity, and has connections to the GH-IGF system and ACTH-adrenal androgen axis.
|
NA
|
{
"id": 3479,
"name": "IGF1",
"pos": [
144,
3
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
93,
19
]
}
|
Tumor BRAF mutation testing is routine for all patients with metastatic melanoma (MM) owing to the availability of agents targeting this intracellular pathway.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
6,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
0,
5
]
}
|
These results suggested that LPL determined not only hydrolysis of triglyceride-rich lipoproteins but also lipolytic conversion, and that overexpression of LPL acted to protect against diet-induced hypertriglyceridemia as well as hypercholesterolemia.
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
156,
3
]
}
|
{
"id": "C0020557",
"name": "Hypertriglyceridemia",
"pos": [
198,
20
]
}
|
We determined the mRNA levels of pro-apoptotic Bak and anti-aptototic Bcl-xl and Mcl-1 members of the Bcl-2 family in unstimulated peripheral blood neutrophils from patients with mild to moderate COPD and compared these to neutrophils from healthy controls.
|
biomarker
|
{
"id": 4170,
"name": "MCL1",
"pos": [
81,
5
]
}
|
{
"id": "C0024117",
"name": "Chronic Obstructive Airway Disease",
"pos": [
196,
4
]
}
|
The nSMase inhibitor GW4869 and an anticeramide antibody reduced the hypoxic vasoconstriction in chicken PA and chorioallantoic arteries (CA) and the normoxic contraction of chicken DA.
|
NA
|
{
"id": 6610,
"name": "SMPD2",
"pos": [
4,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
69,
7
]
}
|
Prolyl-isomerase-1 (Pin1) is emerging as a key molecule implicated in vascular oxidative stress and inflammation.
|
NA
|
{
"id": 23037,
"name": "PDZD2",
"pos": [
20,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
100,
12
]
}
|
Also, hypoxia was additive with ectopic Wwox remarkably enhancing HIF-1α nuclear shuttle and accumulation due to the lengthening of the half-life of HIF-1α protein; under this experimental condition HIF-1α appeared as a slower migrated band compared with control, in agreement with the phosphorylation state.
|
NA
|
{
"id": 51741,
"name": "WWOX",
"pos": [
40,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
6,
7
]
}
|
We identified the mutation c.2645A>C (p.E882A) within the AKAP2 gene, which cosegregated with the adolescent idiopathic scoliosis phenotypes.
|
genomic_alterations
|
{
"id": 445815,
"name": "PALM2AKAP2",
"pos": [
61,
5
]
}
|
{
"id": "C0410702",
"name": "Adolescent idiopathic scoliosis",
"pos": [
101,
31
]
}
|
Adiponectin levels from days 1 to 3 were inversely correlated with body mass index (BMI) (rho = -0.49; P = 0.002) and were significantly lower for patients with SAP (median, 3.74 microg/mL) than those with mild AP (6.58 microg/mL; P = 0.02).
|
NA
|
{
"id": 325,
"name": "APCS",
"pos": [
161,
3
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
67,
15
]
}
|
This study showed that the effect of H. pylori infection on atopy risk is stronger than that of IL4 genetics.
|
NA
|
{
"id": 3565,
"name": "IL4",
"pos": [
96,
3
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
60,
5
]
}
|
The past few years have witnessed a dramatic leap in our understanding of the molecular basis of brain overgrowth, particularly the identification of mosaic (or post-zygotic) mutations in core components of key cellular pathways such as the phosphatidylinositol 3-kinase (PI3K)-vakt murine thymoma viral oncogene homolog (AKT)-mTOR pathway.
|
NA
|
{
"id": 207,
"name": "AKT1",
"pos": [
322,
3
]
}
|
{
"id": "C1849265",
"name": "Overgrowth",
"pos": [
103,
10
]
}
|
HO-1 expression was increased in blood during acute malaria, but at a cellular level HO-1 expression was modulated by changes in surface expression of the haptoglobin receptor (CD163).
|
NA
|
{
"id": 9332,
"name": "CD163",
"pos": [
177,
5
]
}
|
{
"id": "C2930826",
"name": "Acute malaria",
"pos": [
46,
13
]
}
|
We tested this hypothesis prospectively using P/E-selectin adhesion molecule deficient mice that mimic the human syndrome leukocyte adhesion deficiency II.
|
NA
|
{
"id": 6401,
"name": "SELE",
"pos": [
48,
10
]
}
|
{
"id": "C0272187",
"name": "Congenital leukocyte adherence deficiency",
"pos": [
122,
29
]
}
|
Nav1.9 might be upregulated by PKCα in DRG, which contributes to pain hypersensitivity in CFA-induced chronic knee joint inflammation model of RA pain.
|
biomarker
|
{
"id": 5578,
"name": "PRKCA",
"pos": [
31,
4
]
}
|
{
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
143,
2
]
}
|
Thyroid nodule fine-needle aspiration biopsy samples and tumor tissue at the time of thyroidectomy were used to test for somatic genetic mutations (BRAF V600E, NRAS, KRAS, NTRK1, RET/PTC1, and RET/PTC3).
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
148,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
57,
5
]
}
|
The aim of the study was to determine whether functional polymorphisms in TNF, LTA, HSPA1L and HLA-DRB1 genes influence the risk of cotrimoxazole hypersensitivity in HIV-infected patients.
|
NA
|
{
"id": 4049,
"name": "LTA",
"pos": [
79,
3
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
146,
16
]
}
|
Predictive value of BRCA1, ERCC1, ATP7B, PKM2, TOPOI, TOPΟ-IIA, TOPOIIB and C-MYC genes in patients with small cell lung cancer (SCLC) who received first line therapy with cisplatin and etoposide.
|
NA
|
{
"id": 540,
"name": "ATP7B",
"pos": [
34,
5
]
}
|
{
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
105,
22
]
}
|
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
|
genomic_alterations
|
{
"id": 860,
"name": "RUNX2",
"pos": [
47,
5
]
}
|
{
"id": "C4321245",
"name": "Cleft lip or lips",
"pos": [
113,
9
]
}
|
Epigenetics alterations in FHIT contributes to tumorigenesis of breast cancer.
|
NA
|
{
"id": 2272,
"name": "FHIT",
"pos": [
27,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
47,
13
]
}
|
These observations support our belief that TMEM45B may serve as an oncogene in the development and progression of osteosarcoma.
|
biomarker
|
{
"id": 120224,
"name": "TMEM45B",
"pos": [
43,
7
]
}
|
{
"id": "C0585442",
"name": "Osteosarcoma of bone",
"pos": [
114,
12
]
}
|
AD dementia risk in late MCI, in early MCI, and in subjective memory impairment.
|
genomic_alterations
|
{
"id": 345643,
"name": "MCIDAS",
"pos": [
25,
3
]
}
|
{
"id": "C0011265",
"name": "Presenile dementia",
"pos": [
3,
8
]
}
|
PDE is the result of mutations in the ALDH7A1 gene encoding antiquitin, an enzyme protective against cellular dehydration and osmotic stress.
|
NA
|
{
"id": 501,
"name": "ALDH7A1",
"pos": [
60,
10
]
}
|
{
"id": "C0011175",
"name": "Dehydration",
"pos": [
110,
11
]
}
|
Southern blot analysis of DR, DQ genes with cDNA probes showed that the extended haplotype bearing B8,DR3, which carries DQA2.1 and DQB2.1 genes, was present in a significantly higher proportion of patients with RA with gold induced thrombocytopenia or proteinuria (22/24, 92%) than in patients with RA without these side effects (32/45, 71%) or normal subjects (40/61, 66%).
|
NA
|
{
"id": 8718,
"name": "TNFRSF25",
"pos": [
102,
3
]
}
|
{
"id": "C0033687",
"name": "Proteinuria",
"pos": [
253,
11
]
}
|
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