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We studied the gene expression by quantitative reverse transcription polymerase chain reaction of TNFSF11 (RANKL), TNFSF11A (RANK), TNFRSF11B (OPG), CCL3 (MIP1A), CCL4 (MIP1B), PTHR1 (PTHrp), DKK1, CKS2, PSME2 and DHFR in purified, immunophenotypic FACS-sorted plasma cells from 171 newly diagnosed MM patients, 20 patients with monoclonal gammopathy of undetermined significance and 12 controls. | NA | {
"id": 1719,
"name": "DHFR",
"pos": [
214,
4
]
} | {
"id": "C0026470",
"name": "Monoclonal Gammopathy of Undetermined Significance",
"pos": [
329,
50
]
} |
Review: transactive response DNA-binding protein 43 (TDP-43): mechanisms of neurodegeneration. | NA | {
"id": 2737,
"name": "GLI3",
"pos": [
29,
19
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
76,
17
]
} |
The purpose of this research was to determine if CD44 and RHAMM are implicated in human ocular surface inflammation. | NA | {
"id": 3161,
"name": "HMMR",
"pos": [
58,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
103,
12
]
} |
In contrast, the puerarin treatment dose-dependently significantly decreased the kidney index, blood glucose, TG, TC, MDA, IFN-γ, and IFN-γ/IL-4 levels, increased the body weight, FPI, IL-4, SOD, CAT, GSH-Px and NO levels and improved the renal function (lower BUN, SCr, UP levels and glomerular extracellular matrix (relative area)) in puerarin treatment groups (p < 0.05). | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
134,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
167,
11
]
} |
So far, mutations in 25 genes have been associated with LCA, with <i>CEP290</i> (encoding the Centrosomal protein of 290 kDa) being the most frequently mutated gene. | genomic_alterations | {
"id": 80184,
"name": "CEP290",
"pos": [
106,
30
]
} | {
"id": "C2931258",
"name": "Amaurosis congenita of Leber, type 1",
"pos": [
56,
3
]
} |
In patients with AML, IDH1/2 mutations were significantly associated with normal karyotype and isolated trisomy 8 (p < .05). | genomic_alterations | {
"id": 3417,
"name": "IDH1",
"pos": [
22,
4
]
} | {
"id": "C0795825",
"name": "Chromosome 8, trisomy 8p",
"pos": [
104,
12
]
} |
α-Methylacyl-CoA racemase (AMACR) in gastric cancer: correlation with clinicopathologic data and disease-free survival. | NA | {
"id": 23600,
"name": "AMACR",
"pos": [
0,
25
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
37,
14
]
} |
Intrathecal interleukin-10 gene therapy attenuates paclitaxel-induced mechanical allodynia and proinflammatory cytokine expression in dorsal root ganglia in rats. | therapeutic | {
"id": 3586,
"name": "IL10",
"pos": [
12,
19
]
} | {
"id": "C0751214",
"name": "Hyperalgesia, Thermal",
"pos": [
70,
20
]
} |
Overexpression of nuclear HMGB1 attenuated ET-1 induced cardiomyocyte hypertrophy. | NA | {
"id": 3146,
"name": "HMGB1",
"pos": [
26,
5
]
} | {
"id": "C4227331",
"name": "Cardiomyocyte hypertrophy",
"pos": [
56,
25
]
} |
Our results suggest that the murine double minute-2-forkhead box O1-thrombospondin-1 pathway plays an important role in angio-regulation of the skeletal muscle in the pathophysiological context of type 1 diabetes. | biomarker | {
"id": 7057,
"name": "THBS1",
"pos": [
68,
16
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
197,
15
]
} |
By employing tissue microarrays and low-passage primary cultures of metastatic melanoma, we show that CEACAM1 expression gradually increases from nevi to metastatic specimens, with a strong dominance of the CEACAM1-Long tail splice variant. | NA | {
"id": 634,
"name": "CEACAM1",
"pos": [
207,
7
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
146,
4
]
} |
More recently, additional diseases have been linked to functionally altered variants in genes encoding for other NADPH oxidases, such as for DUOX2/DUOXA2 in congenital hypothyroidism, or for the Nox2 complex, NOX1 and DUOX2 as risk factors for inflammatory bowel disease. | NA | {
"id": 405753,
"name": "DUOXA2",
"pos": [
147,
6
]
} | {
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
244,
26
]
} |
KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. | genomic_alterations | {
"id": 862,
"name": "RUNX1T1",
"pos": [
27,
3
]
} | {
"id": "C0023465",
"name": "Acute monocytic leukemia",
"pos": [
40,
3
]
} |
In stratified regression models including demographical and disease-related factors as covariates, 96 single nucleotide polymorphisms (SNPs) in 16 candidate genes related to opioid- or nausea/vomiting signalling pathways (ABCB1, OPRM1, OPRK1, ARRB2, STAT6, COMT, CHRM3, CHRM5, HRH1, DRD2, DRD3, TACR1, HTR3A, HTR3B, HTR3C, CNR1) were analysed for association with nausea and vomiting. | NA | {
"id": 1133,
"name": "CHRM5",
"pos": [
270,
5
]
} | {
"id": "C0027498",
"name": "Nausea and vomiting",
"pos": [
364,
19
]
} |
From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed the presence of 5 ADIPOQ genetic variants (rs266729, rs182052, rs822396, rs2241766, and rs1501299) in samples from 600 Caucasian men who subsequently suffered an atherothrombotic event (incident myocardial infarction or ischemic stroke) and from 600 age- and smoking-matched Caucasian men who remained free of reported vascular disease during follow-up (controls). | NA | {
"id": 9370,
"name": "ADIPOQ",
"pos": [
146,
6
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
387,
7
]
} |
Adhesion molecules such as intercellular adhesion molecule-1 (ICAM-1) are thought to contribute to the airway inflammation and airway hyper-responsiveness (AHR) of allergic asthma. | NA | {
"id": 196,
"name": "AHR",
"pos": [
156,
3
]
} | {
"id": "C0035228",
"name": "Respiratory Hypersensitivity",
"pos": [
127,
27
]
} |
Inflammatory factor ICAM-1 may be an objective basis for syndrome typing of QSBS and QDBS, which provides a research direction for standardization research of CM syndrome types. | biomarker | {
"id": 3383,
"name": "ICAM1",
"pos": [
20,
6
]
} | {
"id": "C1136033",
"name": "Cutaneous Mastocytosis",
"pos": [
159,
2
]
} |
Four hours after seawater inhalation, histological changes, contents of TNF- α , IL-1 β and IL-10, and the expression of Cx43 in lungs were detected. | NA | {
"id": 2697,
"name": "GJA1",
"pos": [
121,
4
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
26,
10
]
} |
However, brain volumes in regions of relevance to addiction, as assessed with magnetic resonance imaging, did not correlate with NFAT5 variation. | NA | {
"id": 10725,
"name": "NFAT5",
"pos": [
129,
5
]
} | {
"id": "C0085281",
"name": "Addictive Behavior",
"pos": [
50,
9
]
} |
This study sought to evaluate the invariance of the SRS-22 structure across different languages and sub-groups of ASD patients. | genomic_alterations | {
"id": 140821,
"name": "RSS",
"pos": [
52,
3
]
} | {
"id": "C0018817",
"name": "Atrial Septal Defects",
"pos": [
114,
3
]
} |
We found no statistically significant differences in the frequency of the GST gene polymorphisms in patients with CRC and controls. | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
74,
3
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
114,
3
]
} |
The nuclear/nucleolar localization of NPM-MLF1 mirrors that of NPM, indicating that NPM trafficking signals direct MLF1 to an inappropriate cellular compartment in myeloid leukemia cells. | NA | {
"id": 4291,
"name": "MLF1",
"pos": [
42,
4
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
164,
16
]
} |
During adenovirus infection, NHEJ is inhibited by viral proteins E4 34k and E1B 55k, which redirect the Cul5/Rbx1/Elongin BC ubiquitin E3 ligase to polyubiquitinate and promote degradation of ligase IV. | NA | {
"id": 8065,
"name": "CUL5",
"pos": [
104,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
7,
20
]
} |
The survival data and body weight of all mice were recorded, and expression levels of PTEN, PI3K and FAK in normal tissue and cancer tissue of the livers were evaluated with immunohistochemical method. | NA | {
"id": 5747,
"name": "PTK2",
"pos": [
101,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
22,
11
]
} |
A potential role of cannabinoids, particularly of CB2 agonists devoid of psychotropic side effects, in glioma therapy could have a basis in glioblastomas, because they were all positive, though weakly, to CB2. | NA | {
"id": 1269,
"name": "CNR2",
"pos": [
205,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
103,
6
]
} |
Polymorphisms in VDR and ZNF365 genes have been associated to calcium and uric acid lithiasis, respectively. | NA | {
"id": 22891,
"name": "ZNF365",
"pos": [
25,
6
]
} | {
"id": "C0023869",
"name": "Lithiasis",
"pos": [
84,
9
]
} |
The combination of CYC and PSL appears to be beneficial for Japanese RA patients who are SAA1.3 homo- and heterozygous carriers, associated with secondary AA amyloidosis. | NA | {
"id": 54205,
"name": "CYCS",
"pos": [
19,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
145,
9
]
} |
We established an in vitro model of primary neuronal cell culture to study the protective effects of PACAP against β-amyloid (Aβ) toxicity. | NA | {
"id": 116,
"name": "ADCYAP1",
"pos": [
101,
5
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
117,
7
]
} |
Based on 19 years of PRNP sequencing at the MRC Prion Unit, London, and analysis of 3664 samples from patients referred with suspected prion disease and healthy populations, we present novel allele combinations, healthy control population data, results of screening the PRNP ORF in DNA from the entire referral series and the CEPH human genome diversity cell line panel. | NA | {
"id": 4345,
"name": "CD200",
"pos": [
44,
3
]
} | {
"id": "C0162534",
"name": "Prion Diseases",
"pos": [
135,
13
]
} |
In pSS, functional LILRA3 was specifically associated with leucopenia (p=4.39×10(-4), OR=3.25), anti-Ro/SSA-positive subphenotypes (p=4.54×10(-3), OR=2.34) and anti-La/SSB-positive subphenotypes (p=0.012, OR=2.49). | NA | {
"id": 811,
"name": "CALR",
"pos": [
104,
3
]
} | {
"id": "C0023530",
"name": "Leukopenia",
"pos": [
59,
10
]
} |
In this study, we explored the effects of periostin silencing on thyroid carcinoma cell growth, invasion, and tumorigenesis. | biomarker | {
"id": 10631,
"name": "POSTN",
"pos": [
42,
9
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
110,
13
]
} |
MUC5AC expression was studied by immunohistochemistry and immunoblotting in human tissues, in tissues from a rat model of BE, and in SKGT-4 cultured esophageal epithelial cells. | NA | {
"id": 4586,
"name": "MUC5AC",
"pos": [
0,
6
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
149,
10
]
} |
Some loss of folic acid (FA) transport mutations in PCFT from hereditary folate malabsorption (HFM) patients cluster in R113, thereby suggesting a functional role for this residue. | genomic_alterations | {
"id": 113235,
"name": "SLC46A1",
"pos": [
52,
4
]
} | {
"id": "C3495417",
"name": "Hemifacial microsomia",
"pos": [
95,
3
]
} |
The genes involved in the translocation t(1;2)(p13;q37) were recently identified: the colony-stimulating factor-1 (CSF1 or M-CSF1) at 1p13 and the collagen type VI alpha-3 (COL6A3) at 2q37. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
47,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
26,
13
]
} |
In conclusion, mDPRA plus photo-mDPRA and 3T3-NRU-PT seem to be preliminary non-animal test batteries for skin (photo)sensitization/phototoxicity assessment of chemicals, agrochemical formulations and their ingredients. | biomarker | {
"id": 5030,
"name": "P2RY4",
"pos": [
46,
3
]
} | {
"id": "C0162830",
"name": "Dermatitis, Phototoxic",
"pos": [
132,
13
]
} |
In summary, let-7f inhibition contributed to the upregulation of TSP-1 in paclitaxel LDM therapy, independently of proliferation, cell cycle arrest and apoptosis of breast cancer. | NA | {
"id": 1595,
"name": "CYP51A1",
"pos": [
85,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
165,
13
]
} |
The selected ADH and ALDH gene variants had only minor effects, and did not seem to markedly modify the health effects of alcohol drinking. | NA | {
"id": 551,
"name": "AVP",
"pos": [
13,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
122,
16
]
} |
Immunohistochemical examination showed high expression of ALKBH3, Tweak, and Fn14 in urothelial carcinoma, especially in high-grade, superficially, and deeply invasive carcinomas; moreover, Fn14-positive vessel counts within cancer foci were increased in invasive phenotypes. | biomarker | {
"id": 51330,
"name": "TNFRSF12A",
"pos": [
190,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
225,
6
]
} |
The identification of CRC-predisposing combinations, composed of alleles PTGS1 c.639A, PLA2G2A c.435+230C, PPARG c.1431C, IL8 c.-352A, and MTHFR c.1286C, highlights the importance of inflammatory processes in susceptibility to sporadic CRC, as well as a possible crosstalk between inflammation and one-carbon pathways. | NA | {
"id": 5742,
"name": "PTGS1",
"pos": [
73,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
227,
8
]
} |
Here, we show that the RET/PTC1 oncogene, when exogenously expressed in primary normal human thyrocytes, induces the expression of a large set of genes involved in inflammation and tumor invasion, including those encoding chemokines (CCL2, CCL20, CXCL8, and CXCL12), chemokine receptors (CXCR4), cytokines (IL1B, CSF-1, GM-CSF, and G-CSF), matrix-degrading enzymes (metalloproteases and urokinase-type plasminogen activator and its receptor), and adhesion molecules (L-selectin). | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
288,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
447,
8
]
} |
To describe alterations of gene expression patterns of the alcohol dehydrogenase-1 (ADH1) gene in human leiomyoma tissue. | NA | {
"id": 124,
"name": "ADH1A",
"pos": [
84,
4
]
} | {
"id": "C0023267",
"name": "Fibroid Tumor",
"pos": [
104,
9
]
} |
The invasion of successfully TIMP-1 transfected astrocytoma cells across matrigel-coated filters was significantly decreased over controls. | biomarker | {
"id": 7076,
"name": "TIMP1",
"pos": [
29,
6
]
} | {
"id": "C4086152",
"name": "Childhood Astrocytoma",
"pos": [
48,
11
]
} |
LPS-induced E-selectin expression and tumor cells adhesion were assessed by western blotting and immunofluorescence. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
12,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
50,
8
]
} |
These findings highlight the pivotal role TRPV1 channels play in bone resorption and suggest a possible cross-talk between TRPV1 and CB2 receptors. | NA | {
"id": 1269,
"name": "CNR2",
"pos": [
133,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
65,
15
]
} |
These results suggest that human protein 4.2, through interaction with CD47, is involved in the skeleton linkage and/or membrane translocation of the Rh complex. | NA | {
"id": 961,
"name": "CD47",
"pos": [
71,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
129,
13
]
} |
In conclusion, the ACE gene polymorphism affects plasma ACE activity but not blood pressure and is not associated with increased risk of myocardial infarction, ischemic heart disease, or ischemic cerebrovascular disease in the largest studies. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
19,
8
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
77,
14
]
} |
We therefore conducted COL17A1 mutational analysis in three patients from two AI families. | genomic_alterations | {
"id": 1308,
"name": "COL17A1",
"pos": [
23,
7
]
} | {
"id": "C0002452",
"name": "Amelogenesis Imperfecta",
"pos": [
78,
2
]
} |
A hallmark of most RCC is the loss-of-function of the von Hippel-Lindau (pVHL) protein by mutation of its gene (VHL). | genomic_alterations | {
"id": 7428,
"name": "VHL",
"pos": [
73,
4
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
19,
3
]
} |
Out of the 26 tested SNPs in the PPARγ, seven SNPs were individually shown to be statistically significantly associated with mammographic density (P(ACT) = 0.008-0.049). | NA | {
"id": 5468,
"name": "PPARG",
"pos": [
33,
5
]
} | {
"id": "C1268717",
"name": "Mammographic Breast Density",
"pos": [
125,
20
]
} |
We also observed that knockdown of MUC1 decreased the translocation of β‑catenin to the nucleus, reduced the activity of T cell factor and blocked the expression of cyclin D1 and c-Myc. | NA | {
"id": 4582,
"name": "MUC1",
"pos": [
35,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
54,
13
]
} |
Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
16,
3
]
} | {
"id": "C0013336",
"name": "Dwarfism",
"pos": [
73,
13
]
} |
We observed that autophagy was specifically activated in Paneth cells from patients with CD, independently of mucosal inflammation or disease-associated variants of ATG16L1 or IRGM. | NA | {
"id": 55054,
"name": "ATG16L1",
"pos": [
165,
7
]
} | {
"id": "C0333355",
"name": "Inflammatory disease of mucous membrane",
"pos": [
110,
20
]
} |
Finally, multiple logistic regression analysis revealed that systolic blood pressure, CC homozygotes of REN C-5312T, and diabetes were independent predictors for responders with odds ratios (95% CI) of 2.49 (1.41-4.42), 2.03 (1.10-3.74), and 0.48 (0.24-0.96), respectively. | NA | {
"id": 147040,
"name": "KCTD11",
"pos": [
104,
3
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
121,
8
]
} |
CL was the best light source for improving the photodynamic action of AlClPc-loaded albumin nanoparticles in glioblastoma cells and avoiding undesirable side effects, especially at low photosensitizer doses (200mJ/cm<sup>2</sup>). | biomarker | {
"id": 213,
"name": "ALB",
"pos": [
84,
7
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
109,
12
]
} |
In subsequent studies, EML4-ALK has been detected in a low percentage of patients, and was associated with a lack of EGFR or KRAS mutations, younger age, and adenocarcinoma with acinar histology. | genomic_alterations | {
"id": 27436,
"name": "EML4",
"pos": [
23,
4
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
158,
14
]
} |
CD317 Signature in Head and Neck Cancer Indicates Poor Prognosis. | biomarker | {
"id": 684,
"name": "BST2",
"pos": [
0,
5
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
19,
20
]
} |
Biological agents are rapidly developing for the treatment of metastatic RAI resistant thyroid cancer. | biomarker | {
"id": 2657,
"name": "GDF1",
"pos": [
73,
3
]
} | {
"id": "C0040136",
"name": "Thyroid Neoplasm",
"pos": [
87,
14
]
} |
We utilized mice lacking ICAM-1 expression (ICAM-1(-/-)) to investigate the role of ICAM-1 in airway inflammation and AHR in TDI-induced asthma. | NA | {
"id": 100038246,
"name": "TLX1NB",
"pos": [
125,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
101,
12
]
} |
We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls. | NA | {
"id": 3486,
"name": "IGFBP3",
"pos": [
441,
6
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
277,
14
]
} |
For full accumulation in glomeruli of neutrophils as well as full development of proteinuria, requirements have been demonstrated for TNF alpha, (but not IL-1), CD11b (but not CD11a), very late arising-4 (CD49d/CD29), and intercellular adhesion molecule-1 but not endothelial leukocyte adhesion molecule-1 (E-selectin). | NA | {
"id": 3683,
"name": "ITGAL",
"pos": [
176,
5
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
81,
11
]
} |
The full expression of the signature in the youngest patient (aged 19 months) indicates that the state of haploinsufficiency caused by Glut1 mutation leaves a permanent footprint on the nervous system from its earlier postnatal stages of development. | NA | {
"id": 6513,
"name": "SLC2A1",
"pos": [
135,
5
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
186,
14
]
} |
This study included a randomly selected subcohort (n=502), cardiovascular disease (CVD) cases (n=245), and heart failure cases (n=220) from the Health, Aging, and Body Composition (Health ABC) Study. | genomic_alterations | {
"id": 10058,
"name": "ABCB6",
"pos": [
188,
3
]
} | {
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
107,
13
]
} |
These results provide novel evidence that nobiletin effectively interferes with gene expression of ADAMTS-4 and -5, and thereby prevents cartilage destruction in CIA mice. | NA | {
"id": 25842,
"name": "ASF1A",
"pos": [
162,
3
]
} | {
"id": "C4021973",
"name": "Cartilage destruction",
"pos": [
137,
21
]
} |
LZTS2 inhibits PI3K/AKT activation and radioresistance in nasopharyngeal carcinoma by interacting with p85. | biomarker | {
"id": 8874,
"name": "ARHGEF7",
"pos": [
103,
3
]
} | {
"id": "C2931822",
"name": "Nasopharyngeal carcinoma",
"pos": [
58,
24
]
} |
Monitoring of TNF-α-induced expression of the adhesion molecules VCAM-1, ICAM-1 and E-selectin by flow cytometry was used to confirm NF-κB inhibition in endothelial cells, and thioglycollate-induced peritonitis in mice to confirm effects in vivo. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
14,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
46,
8
]
} |
Taken together, our studies raise the possibility of a gene × environment interaction between heterozygous TSC gene mutations and gestational immune activation in the pathogenesis of TSC-related ASD. | genomic_alterations | {
"id": 54997,
"name": "TESC",
"pos": [
107,
3
]
} | {
"id": "C1510586",
"name": "Autism Spectrum Disorders",
"pos": [
195,
3
]
} |
Together, our data support the notion that selectively blocking cMET signaling or PI3K isoforms in metastatic uveal melanoma may break the intrinsic resistance to MEK inhibitors provided by factors from stromal cells in the liver.<i></i>. | biomarker | {
"id": 5291,
"name": "PIK3CB",
"pos": [
82,
4
]
} | {
"id": "C4725091",
"name": "metastatic intraocular melanoma",
"pos": [
99,
25
]
} |
They were associated with no bleeding diathesis, normal, or only slightly reduced platelet count and no extra-hematological manifestations, confirming that alterations of the tail domain cause a mild form of MYH9-RD with no clinically relevant defects. | NA | {
"id": 4627,
"name": "MYH9",
"pos": [
208,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
195,
4
]
} |
We compared the expression of the c-kit antigen in the malignant salivary gland neoplasms ACC and PLGA with its expression in salivary gland monomorphic adenoma (including canalicular adenoma and basal cell adenoma). | NA | {
"id": 3815,
"name": "KIT",
"pos": [
34,
5
]
} | {
"id": "C0036095",
"name": "Salivary Gland Neoplasms",
"pos": [
65,
24
]
} |
In inclusion body myositis (IBM) DR3 and DR1 have been separately reported to be increased but few patients have been analysed. | NA | {
"id": 1810,
"name": "DR1",
"pos": [
41,
3
]
} | {
"id": "C0238190",
"name": "Inclusion Body Myositis (disorder)",
"pos": [
3,
23
]
} |
A t(9;12)(p24;p13) chromosomal translocation in a T cell childhood acute lymphoblastic leukemia patient was characterized and shown to fuse the 3' portion of JAK2 to the 5' region of TEL, a gene encoding a member of the ETS transcription factor family. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
183,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
19,
25
]
} |
This study independently verifies the influence of NCOR2 and IDH1 on HIV transmission, and its findings suggest that variation in these genes affects susceptibility to HIV infection in exposed individuals. | genomic_alterations | {
"id": 3417,
"name": "IDH1",
"pos": [
61,
4
]
} | {
"id": "C0019693",
"name": "HIV Infections",
"pos": [
168,
13
]
} |
In addition, it was verified by immunohistochemical analysis that the expressions of Calgranulin A, Calgranulin B, and Cathepsin D were mainly located in cholesteatoma epithelium. | NA | {
"id": 6280,
"name": "S100A9",
"pos": [
100,
13
]
} | {
"id": "C0008373",
"name": "Cholesteatoma",
"pos": [
154,
13
]
} |
C-type lectin receptor DCIR modulates immunity to tuberculosis by sustaining type I interferon signaling in dendritic cells. | biomarker | {
"id": 338339,
"name": "CLEC4D",
"pos": [
0,
22
]
} | {
"id": "C0041296",
"name": "Tuberculosis",
"pos": [
50,
12
]
} |
We have evaluated the functional polymorphisms of ABCB1, ABCG2, and ABCC2 genes with regard to epilepsy drug response in partial epilepsy, and have investigated the potential of combined effects of polymorphisms in more than one transporter gene. | NA | {
"id": 9429,
"name": "ABCG2",
"pos": [
57,
5
]
} | {
"id": "C0014547",
"name": "Epilepsies, Partial",
"pos": [
121,
16
]
} |
In reviewing the epidemiology of recurrent abortion (RAB), we believe it is necessary to consider the epidemiology of spontaneous abortion (SAB) as well, since it is clear that even a single pregnancy loss increases the risk for a subsequent abortion. | NA | {
"id": 3267,
"name": "AGFG1",
"pos": [
53,
3
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
118,
20
]
} |
Moreover, we showed downregulation of HIF1a protein in both cell lines after miR-210 silencing indicating participation of miR-210 in hypoxic processes of RCC not only through regulation of its target mRNAs but also by indirect regulation of HIF1a. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
242,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
134,
7
]
} |
Androgen receptor-mediated hypersensitivity to androgens in women with nonhyperandrogenic hirsutism: skewing of X-chromosome inactivation. | NA | {
"id": 367,
"name": "AR",
"pos": [
0,
17
]
} | {
"id": "C0019572",
"name": "Hirsutism",
"pos": [
90,
9
]
} |
Interestingly, we observed decreased expression of several breast cancer tumour suppressor genes (e.g., TAGLN, EGR1, BCL11b, CAV1) in response to both SRC-2 knockdown and PKA activation, whereas the expression of a number of other genes implicated in cancer progression (e.g., RET, BCAS1, TFF3, CXCR4, ADM) was increased. | NA | {
"id": 64919,
"name": "BCL11B",
"pos": [
117,
6
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
59,
13
]
} |
The nontumorigenic HeLa x skin fibroblast hybrid cell line, CGL1, can be induced to re-express HeLa tumor-associated cell surface antigen, p75-IAP (intestinal alkaline phosphatase), with resulting neoplastic transformation, by exposure to gamma radiation. | NA | {
"id": 248,
"name": "ALPI",
"pos": [
148,
31
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
197,
25
]
} |
Sixty-five individual TNBCs were studied by sequence analysis for HER2 (exon 18-23), EGFR (exon 18-21), KRAS (exon 2), and BRAF (exon 15) mutations. | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
66,
4
]
} | {
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
22,
4
]
} |
Women carrying the low-risk CAT CC [odds ratio (OR) = 0.75, 95% confidence interval (CI) 0.50-1.11], NOS3 TT (OR = 0.54, 95% CI = 0.26-1.12, P-trend = 0.10) or HO-1 S allele and MM genotype (OR = 0.56, 95% CI = 0.37-0.55), however, were found to be at non-significantly reduced breast cancer risk among those with high vegetable and fruit intake (> or = median; P-interactions = 0.04 for CAT, P = 0.005 for NOS3 and P = 0.07 for HO-1). | NA | {
"id": 342977,
"name": "NANOS3",
"pos": [
407,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
278,
13
]
} |
Based on in vitro studies using the TE8 esophageal cancer cells, we examined by immunohistochemistry TNC expression in 111 ESCCs. | NA | {
"id": 3371,
"name": "TNC",
"pos": [
101,
3
]
} | {
"id": "C0014859",
"name": "Esophageal Neoplasms",
"pos": [
40,
17
]
} |
In addition to weight and age, gene polymorphisms in specific members of the glutathione-transferase (GST) gene family (A1, P1, M1, and T1), involved in BU metabolism, may play a role in the wide inter-patient variability in systemic BU concentrations. | NA | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
102,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
15,
6
]
} |
In summary, our study discovered that lncRNA LINC01133 aggravates the proliferation, migration, and invasion of OS by sponging miR-422a, which provides a novel insight in the tumorigenesis of OS. | biomarker | {
"id": 494334,
"name": "MIR422A",
"pos": [
127,
8
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
192,
2
]
} |
Although a single mutation event in the X-chromosomal gene PIGA is known to cause GPI-anchored protein deficiency, 2 such hits are required in the autosomal gene PIGT. | NA | {
"id": 51604,
"name": "PIGT",
"pos": [
162,
4
]
} | {
"id": "C0033626",
"name": "Protein Deficiency",
"pos": [
95,
18
]
} |
A neutralizing antibody against NADPH-cytochrome P-450 reductase (NPR), which contributes to the stabilization of HIF-1alpha, also attenuated hypoxia-stimulated proliferation. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
114,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
142,
7
]
} |
These results point to the relevance of CD4+ lymphocytes in psoriasis. | NA | {
"id": 920,
"name": "CD4",
"pos": [
40,
3
]
} | {
"id": "C0033860",
"name": "Psoriasis",
"pos": [
60,
9
]
} |
Moreover, we showed that wild-type p53 reduced GIPC-induced breast cancer cell survival, whereas mutant p53 inhibited GIPC-induced cell invasion. | biomarker | {
"id": 10755,
"name": "GIPC1",
"pos": [
47,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
60,
13
]
} |
The purpose of this study was to identify the presence and activation of TLR2 and TLR3 on esophageal epithelial cell lines, primary epithelial cells and mucosal esophageal biopsies. | NA | {
"id": 7097,
"name": "TLR2",
"pos": [
73,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
161,
10
]
} |
Conversely, Hep3B, which did not exhibit orderly hypoxia-associated G(1)/S arrest, also did not show decreased HIF-1alpha, INK4 or Sdi protein levels in hypoxia. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
123,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
153,
7
]
} |
C-myc was not observed in acute hepatitis D or in cases of chronic hepatitis delta virus infection without expression of the hepatitis D antigen. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
0,
5
]
} | {
"id": "C0267797",
"name": "Acute hepatitis",
"pos": [
26,
15
]
} |
Although IL-17RA signaling also controls the production of IL-6, this mechanism makes only a partial contribution to colonic tumorigenesis. | NA | {
"id": 23765,
"name": "IL17RA",
"pos": [
9,
7
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
125,
13
]
} |
MiR-133b inhibits growth of human gastric cancer cells by silencing pyruvate kinase muscle-splicer polypyrimidine tract-binding protein 1. | NA | {
"id": 5725,
"name": "PTBP1",
"pos": [
99,
38
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
34,
14
]
} |
Microscopically visible heterozygous terminal 15q deletions encompassing the IGF1R gene are rare and usually associated with intrauterine growth retardation and short stature. | genomic_alterations | {
"id": 3480,
"name": "IGF1R",
"pos": [
77,
5
]
} | {
"id": "C0015934",
"name": "Fetal Growth Retardation",
"pos": [
125,
31
]
} |
Furthermore, from this dataset we extracted a disease specific set of genes and identified two aging related transcription factors (FOXO1A and FOXO3A) as possible drug targets related to neurodegenerative disease. | biomarker | {
"id": 2309,
"name": "FOXO3",
"pos": [
143,
6
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
187,
25
]
} |
Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. | NA | {
"id": 1371,
"name": "CPOX",
"pos": [
27,
26
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
10,
13
]
} |
Specific examples of the associations of genetic variation and symptoms, syndromes, and intermediate phenotypes, including neurotransmitter (serotonergic, α(2)-adrenergic, and cannabinoid) mechanisms, inflammatory pathways (IL-10, TNFα, GNβ3, and susceptibility loci involved in Crohn's disease), and bile acid metabolism, are explored. | genomic_alterations | {
"id": 7124,
"name": "TNF",
"pos": [
231,
4
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
279,
15
]
} |
The objective is mutation analysis of the RAPSN gene in a patient with sporadic congenital myasthenic syndrome (CMS). | NA | {
"id": 5913,
"name": "RAPSN",
"pos": [
42,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
71,
8
]
} |
Tamoxifen-triggered GRK2 deletion impeded further body weight gain, normalized fasting glycemia, improved glucose tolerance, and was associated with preserved insulin sensitivity in skeletal muscle and liver, thereby maintaining whole-body glucose homeostasis. | NA | {
"id": 156,
"name": "GRK2",
"pos": [
20,
4
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
159,
19
]
} |
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