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|---|---|---|---|
When the HBV patient population was divided into two groups (inactive carriers and active chronic hepatitis patients), the mutant genotypes were found to be more prevalent in the active chronic hepatitis group with respect to the FAS gene polymorphisms; however, this difference was not statistically significant. | NA | {
"id": 355,
"name": "FAS",
"pos": [
230,
8
]
} | {
"id": "C0520463",
"name": "Chronic active hepatitis",
"pos": [
179,
24
]
} |
To determine the association between apolipoprotein A1 (APOA1) -75 guanine [G] to adenine [A] and +83/84 M2(+/-), MspI) and apolipoprotein C3 (APOC3) (SstI) polymorphisms with gallstone disease. | NA | {
"id": 345,
"name": "APOC3",
"pos": [
143,
5
]
} | {
"id": "C0008350",
"name": "Cholelithiasis",
"pos": [
176,
17
]
} |
To determine why PTBP1 and not PTBP2 would promote glial cell-derived tumours, both PTBP1 and PTBP2 were knocked down in the human glioma cell lines U251 and LN229 to determine the role of these proteins in cell proliferation, migration, and adhesion. | NA | {
"id": 58155,
"name": "PTBP2",
"pos": [
94,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
242,
8
]
} |
RNA-binding protein Musashi-2 (Msi2) is known to play a critical role in leukemogenesis and contributes to poor clinical prognosis in acute myeloid leukemia (AML). | NA | {
"id": 27303,
"name": "RBMS3",
"pos": [
0,
19
]
} | {
"id": "C0598766",
"name": "Leukemogenesis",
"pos": [
73,
14
]
} |
Of 38 informative melanomas, 1 nodular melanoma and 2 subcutaneous metastases showed LOH of both microsatellites flanking the gene, suggesting loss of 1 DMBT1 allele. | NA | {
"id": 1755,
"name": "DMBT1",
"pos": [
153,
5
]
} | {
"id": "C0334424",
"name": "Nodular melanoma",
"pos": [
31,
16
]
} |
The candidacy of the CHRD and GSC genes was supported by several lines of evidence: prior evidence for a CDLS gene at 3q26.3-q27; a report suggesting a significant association between CDLS and thrombocytopenia; suspected genetic heterogeneity in CDLS; location of the GSC gene in close proximity to a 14q32 breakpoint detected in a CDLS patient with a balanced de novo translocation; known regulation of chordin expression by goosecoid; and the pattern of embryonic expression of the mouse GSC gene. | NA | {
"id": 145258,
"name": "GSC",
"pos": [
490,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
369,
13
]
} |
Combined analysis showed that FLG haploinsufficiency strongly increases the eczema risk (odds ratio [OR], 3.12; 95% CI, 2.57-3.79) and is associated with more severe and dermatologist-diagnosed disease. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
30,
3
]
} | {
"id": "C0013595",
"name": "Eczema",
"pos": [
76,
6
]
} |
BRAF mutations were present in only CIMP-positive tumors. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
0,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
50,
6
]
} |
In this study, we investigated possible roles of TOPK and MELK in kidney cancer cells and found their growth promotive effect as well as some feedback mechanism between these two molecules. | NA | {
"id": 55872,
"name": "PBK",
"pos": [
49,
4
]
} | {
"id": "C0740457",
"name": "Malignant neoplasm of kidney",
"pos": [
66,
13
]
} |
The high proportion of abnormal and mosaic embryos together explains the high rate of abnormal laboratory findings in PGD for chromosomal abnormalities and aneuploidy screening. | NA | {
"id": 5226,
"name": "PGD",
"pos": [
118,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
156,
10
]
} |
Mutations in chromosome-helicase-DNA-binding protein 7 (CHD7) are identified as the main cause for CHARGE syndrome (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies). | NA | {
"id": 2737,
"name": "GLI3",
"pos": [
33,
19
]
} | {
"id": "C0009363",
"name": "Congenital ocular coloboma (disorder)",
"pos": [
116,
8
]
} |
The review also covers the most recently discovered susceptibility genes including KIF1Bβ, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form. | NA | {
"id": 55654,
"name": "TMEM127",
"pos": [
111,
7
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
168,
8
]
} |
We hypothesized that Nox2, the classical phagocytic NADPH oxidase, plays an important role in calcineurin inhibitor (CNI)-induced renal fibrosis. | therapeutic | {
"id": 1536,
"name": "CYBB",
"pos": [
21,
4
]
} | {
"id": "C0151650",
"name": "Renal fibrosis",
"pos": [
130,
14
]
} |
To gain insight into the mechanism of formation of this striking mutational hot spot in hepatocarcinogenesis, we studied the mutagenesis of codons 247-250 of p53 by rat liver microsome-activated AFB1 in human HCC cells HepG2 by restriction fragment length polymorphism/polymerase chain reaction genotypic analysis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
209,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
88,
20
]
} |
When breast cancer cells mixed with hematopoietic cells were infected with the bcl-x(s) adenovirus, cancer cells were selectively killed by the suicide adenoviruses. | NA | {
"id": 598,
"name": "BCL2L1",
"pos": [
79,
5
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
144,
7
]
} |
The association between TYRO3 and MERTK variants and carotid atherosclerosis found in this study reinforces a physiological role of the GAS6-TAM pathway in atherogenesis. | NA | {
"id": 2621,
"name": "GAS6",
"pos": [
136,
4
]
} | {
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
156,
13
]
} |
To explore whether the mutation in the retina-specific ATP-binding cassette transporter (ABCR) gene, the Stargardt's disease gene, contributes to the prevalence of the dry form of age-related macular degeneration (dry AMD) in Japanese unrelated patients. | NA | {
"id": 24,
"name": "ABCA4",
"pos": [
105,
19
]
} | {
"id": "C0151908",
"name": "Dry skin",
"pos": [
214,
3
]
} |
LDLR and PCSK9 polymorphisms have been associated with higher lipid levels and risk of cardiovascular diseases. | genomic_alterations | {
"id": 255738,
"name": "PCSK9",
"pos": [
9,
5
]
} | {
"id": "C0007222",
"name": "Cardiovascular Diseases",
"pos": [
87,
23
]
} |
The function of TDP-43 in the nervous system is uncertain, and a mechanistic role in neurodegeneration remains speculative. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
16,
6
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
30,
14
]
} |
The rare C allele frequency of TBXA2R+795T>C was significantly higher in AIA than in ATA (P=0.03) and the TBXA2R+795T>C polymorphism was also associated with extent of percent fall in forced expiratory volume in 1 s (FEV1) after the inhalation of lysine-acetyl salicylic acid in AIA patients (P=0.009); AIA patients homozygous for the +795 C allele had a greater percent fall of FEV1 compared with individuals with TBXA2R+795 CT or TT genotypes. | NA | {
"id": 6915,
"name": "TBXA2R",
"pos": [
415,
6
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
233,
10
]
} |
All these effects of MCH were independent of body weight variation and were accompanied by reduced insulin receptor substrate (IRS)-1 engagement of phosphatidylinositol-3 kinase (PI3-kinase) in white and brown adipose tissues, skeletal muscle and liver and by reduced Akt activation in skeletal muscle. | NA | {
"id": 3643,
"name": "INSR",
"pos": [
99,
16
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
45,
11
]
} |
Moreover, AdDelta24-p53 caused more frequent regression and more delayed growth of IGRG121 xenografts derived from a glioblastoma multiforme in vivo. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
20,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
45,
10
]
} |
In this discussion of apolipoproteins and aging, the focus will be on apolipoprotein E (apoE), a protein with three common isoforms, which has a large impact on longevity and successful aging. | NA | {
"id": 348,
"name": "APOE",
"pos": [
70,
16
]
} | {
"id": "C0001811",
"name": "Aging",
"pos": [
186,
5
]
} |
METHODS: An in-depth PARK2 gene dosage analysis and sequencing was performed on 512 French case patients and 562 healthy control patients, as well as sporadic tumors and melanoma cell lines. | NA | {
"id": 5071,
"name": "PRKN",
"pos": [
21,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
150,
8
]
} |
Using BMPRII siRNA and BMPRII(+/-) mice, we found that specific knockdown of BMPRII, but not other BMP receptors (Alk1, Alk2, Alk3, Alk6, ActRIIa, and ActRIIb), induced endothelial inflammation in a ligand-independent manner by mechanisms mediated by reactive oxygen species, nuclear factor-KappaB, and reduced nicotinamide adenine dinucleotide phosphate oxidases. | NA | {
"id": 658,
"name": "BMPR1B",
"pos": [
132,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
181,
12
]
} |
The effect of PIK3CA mutation on cancer survival seemed to differ according to KRAS mutational status. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
79,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
33,
6
]
} |
Thus, acute induction of Nrf2 in epithelial cells exposed to inflammation confers protection from oxidative cell damage and mutagenesis supporting an anti-tumorigenic role for Nrf2. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
176,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
61,
12
]
} |
SMYD3 transcript levels have prognostic value and discriminate among PCa with different clinical aggressiveness, so we decided to investigate its putative oncogenic role on PCa.We silenced SMYD3 and assess its impact through in vitro (cell viability, cell cycle, apoptosis, migration, invasion assays) and in vivo (tumor formation, angiogenesis). | NA | {
"id": 64754,
"name": "SMYD3",
"pos": [
189,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
97,
14
]
} |
A significantly decreased risk of depression was observed among participants with the highest serum albumin levels, with odds ratio and 95% CI for those with >5.0g/dL versus <4.0g/dL of 0.22 (0.06-0.80) (p=0.01). | genomic_alterations | {
"id": 213,
"name": "ALB",
"pos": [
94,
13
]
} | {
"id": "C0011570",
"name": "Mental Depression",
"pos": [
34,
10
]
} |
Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (ηp(2)=.065) and depression (ηp(2)=.059), and for DRD2 rs2283265, depression (ηp(2)=.053). | NA | {
"id": 2010,
"name": "EMD",
"pos": [
56,
3
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
157,
10
]
} |
OPG is a new member of the tumor necrosis factor (TNF) receptor family which plays a key role in the physiological regulation of osteoclastic bone resorption. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
0,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
142,
15
]
} |
As a result of K-means clustering, the expression levels of five genes, AKT1, BCL2L1, ERBB2, MTA2 and TNFRSF25, were found to be significantly up-regulated (p < 0.05) in LST-adenoma, compared to Ip-adenoma. | NA | {
"id": 9219,
"name": "MTA2",
"pos": [
93,
4
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
198,
7
]
} |
TIMP-1-GPI shows enhanced as well as novel in vitro biological activities including suppression of proliferation, reduced migration, and inhibition of invasion of the colon carcinoma cell line SW480. | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
7,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
167,
15
]
} |
Immunofluorescence and time-lapsed confocal techniques confirmed that CD133 was associated with autophagy marker, microtubule-associated protein light chain3 (LC3) and lysosome marker during the glucose starvation. | NA | {
"id": 84557,
"name": "MAP1LC3A",
"pos": [
159,
3
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
203,
10
]
} |
The LEPR Gln223Arg polymorphism was associated with multiple parameters, including diastolic blood pressure, meal sizes during the day and plasma ADIPOQ levels. | NA | {
"id": 9370,
"name": "ADIPOQ",
"pos": [
146,
6
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
83,
24
]
} |
In conclusion, microsatellite instability dependent mutations in DNA repair genes, CtIP and MRE11 are detected in myeloid malignancies conferring hypersensitivity to PARP inhibitors. | NA | {
"id": 4361,
"name": "MRE11",
"pos": [
92,
5
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
146,
16
]
} |
We describe a 43-year-old woman with rheumatoid arthritis (RA), who developed severe infectious mononucleosis (IM)-like syndrome during treatment with salazosulfapyridine (SASP). | NA | {
"id": 151516,
"name": "ASPRV1",
"pos": [
172,
4
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
37,
20
]
} |
The risk of lung and urinary bladder cancers was reported to be increased in individuals who carried high risk genotypes in either cytochrome P450 (CYP)1A1, CYP2E1 or glutathione S-transferase (GST)M1, and the combined genotype of both CYP1A1 and GSTM1 enzymes have an enhanced tendency of risk to lung cancer more significantly. | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
194,
3
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
298,
11
]
} |
The results from competition radioimmunoassay showed that binding of MAb 19-24 to SAA p102 on sarcoma cell membranes was inhibited by scFV1924. | NA | {
"id": 6288,
"name": "SAA1",
"pos": [
82,
3
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
94,
7
]
} |
We conclude that both GCDH activity and GCDH mutation analysis should be considered in the differential diagnosis of progressive forms of early-onset generalized dystonia and that mitochondrial fatty acid metabolism is one important pathway in the development of dystonia. | NA | {
"id": 2639,
"name": "GCDH",
"pos": [
40,
4
]
} | {
"id": "C1848954",
"name": "Generalized dystonia",
"pos": [
150,
20
]
} |
Mutations in the k-ras gene have been found in more than 90% of pancreatic cancers and are believed to play a key role in this malignancy. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
17,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
127,
10
]
} |
Our data demonstrate that Akt-1 and Akt-2 differentially regulate the susceptibility of mice to EAE by controlling tTreg proliferation. | biomarker | {
"id": 207,
"name": "AKT1",
"pos": [
26,
5
]
} | {
"id": "C0014070",
"name": "Encephalomyelitis",
"pos": [
96,
3
]
} |
BST2 confers cisplatin resistance via NF-κB signaling in nasopharyngeal cancer. | biomarker | {
"id": 684,
"name": "BST2",
"pos": [
0,
4
]
} | {
"id": "C0238301",
"name": "Cancer of Nasopharynx",
"pos": [
57,
21
]
} |
Furthermore, haplotypes of LEP, LEPR and GHRL polymorphisms were associated with varying measurements of weight, BMI and WC. | NA | {
"id": 51738,
"name": "GHRL",
"pos": [
41,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
105,
6
]
} |
The identification of HGF/MET mutations in primary lymphedema, lymphedema/lymphangiectasia, and breast cancer-associated secondary lymphedema suggests that the HGF/MET pathway is causal or alters susceptibility for a broad range of lymphedema phenotypes. | NA | {
"id": 4233,
"name": "MET",
"pos": [
164,
3
]
} | {
"id": "C0024214",
"name": "Lymphangiectasis",
"pos": [
74,
16
]
} |
These cases define a novel aetiology of the growth retardation in SRS, namely, dissociation of IGF2 from its enhancers. | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
95,
4
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
79,
12
]
} |
In all of the patients with hematologic disorders, the analyzed region of CKB promoter was mostly unmethylated. | NA | {
"id": 1120,
"name": "CHKB",
"pos": [
74,
3
]
} | {
"id": "C0018939",
"name": "Hematological Disease",
"pos": [
28,
21
]
} |
According to the histological type of the tumor, the B-RAF (V600E) mutation was present in 48.3% of cases of classic PTCs (85 out of 176), in 17.6% (nine out of 51) of follicular variants of PTCs, in 21.7% (five out of 23) in other PTC variants and in none of the ten poorly differentiated tumors. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
53,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
290,
6
]
} |
Thus, we investigated whether variants in the genes encoding interleukin (IL)-1β, IL-2, and IL-6 and brain-derived neurotrophic factor (BDNF) Val66Met are associated with antipsychotic-induced weight gain (AIWG). | NA | {
"id": 3558,
"name": "IL2",
"pos": [
83,
4
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
194,
11
]
} |
This demonstrates the potential for P-cadherin to be used as a target for treatment of gastric cancer. | NA | {
"id": 1001,
"name": "CDH3",
"pos": [
36,
10
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
87,
14
]
} |
We showed that the presence of PD-1(+) TILs significantly varied among cancer types (from 0% in extraskeletal myxoid chondrosarcomas to 93% in ovarian cancer), and was generally associated with the increased number of mutations in tumor cells (P = 0.029). | biomarker | {
"id": 5133,
"name": "PDCD1",
"pos": [
31,
4
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
143,
14
]
} |
Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome). | NA | {
"id": 6495,
"name": "SIX1",
"pos": [
225,
4
]
} | {
"id": "C0431693",
"name": "Renal cysts and diabetes syndrome",
"pos": [
148,
33
]
} |
Here we discuss the role of GITR and 4-1BB on T cells during viral infections and in cancer immunotherapy. | biomarker | {
"id": 3604,
"name": "TNFRSF9",
"pos": [
37,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
85,
6
]
} |
Serum high-sensitivity C-reactive protein (CRP), interleukin 6 (IL-6), soluble intercellular adhesion molecule 1 (sICAM-1), fibrinogen, homocysteine, plasminogen activator inhibitor 1 (PAI-1), von Willebrand factor, and white cell count (WCC) were measured. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
43,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
124,
10
]
} |
Moreover, JAK2 activation increased centrosome and ploidy abnormalities. | NA | {
"id": 3717,
"name": "JAK2",
"pos": [
10,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
58,
13
]
} |
The direct correlation between the 12-chemokine GES score and the presence of unique, lymph nodal structures was also associated with better overall survival of the subset of melanoma patients. | NA | {
"id": 28954,
"name": "REM1",
"pos": [
48,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
175,
8
]
} |
We provide evidence that cyclooxygenase (COX)-2-derived PGE(2) stimulates the cyclic AMP (cAMP) → PKA signal transduction pathway that activates CYP19 transcription, resulting in increased aromatase expression and elevated progesterone receptor levels in breast tissues from overweight and obese women. | NA | {
"id": 1588,
"name": "CYP19A1",
"pos": [
145,
5
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
275,
10
]
} |
If confirmed by further investigations, the observed association between depression and executive functions suggests the need for a careful screening and treatment of depression, to avoid overestimation of cognitive involvement and possibly improve cognitive performances in ALS. | genomic_alterations | {
"id": 3483,
"name": "IGFALS",
"pos": [
275,
3
]
} | {
"id": "C0344315",
"name": "Depressed mood",
"pos": [
73,
10
]
} |
We hypothesize that FANCD2-Ub has an important role in BCR-ABL1 leukemogenesis because of its ability to facilitate the repair of numerous ROS-induced DSBs. | biomarker | {
"id": 613,
"name": "BCR",
"pos": [
55,
3
]
} | {
"id": "C0598766",
"name": "Leukemogenesis",
"pos": [
64,
14
]
} |
At multivariate analysis, cancer-related survival was associated with Dukes' stage (p<0.0001), CEA level (p=0.02), and mutant circulating KRAS2 (p=0.01). | genomic_alterations | {
"id": 5670,
"name": "PSG2",
"pos": [
98,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
26,
6
]
} |
Mechanistic studies suggest that hypoxia-induced PGC-1alpha expression is regulated through the AMPK signaling pathway. | NA | {
"id": 10891,
"name": "PPARGC1A",
"pos": [
49,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
33,
7
]
} |
CONCLUSION Our results showed that AAV vector could transduce human keloid tissue effectively. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
35,
3
]
} | {
"id": "C0022548",
"name": "Keloid",
"pos": [
68,
6
]
} |
We identified two novel missense mutations p.Arg8Gly and p.Thr36Asn in exon 1 of BSND gene; both mutations were described for the first time in Moroccan patients with Bartter syndrome type IV. | genomic_alterations | {
"id": 7809,
"name": "BSND",
"pos": [
81,
4
]
} | {
"id": "C0004775",
"name": "Bartter Disease",
"pos": [
167,
16
]
} |
When the human erythroleukemia (HEL) cell line is induced to differentiate with 12-O-tetradecanoylphorbol 13-acetate, overexpression of MKL1 results in an increased number of megakaryocytes with a concurrent increase in ploidy. | NA | {
"id": 57591,
"name": "MRTFA",
"pos": [
136,
4
]
} | {
"id": "C0023440",
"name": "Acute Erythroblastic Leukemia",
"pos": [
15,
15
]
} |
Especially, circTADA2A-E6 suppressed in vitro cell proliferation, migration, invasion, and clonogenicity and possessed tumor-suppressor capability. circTADA2A-E6 preferentially acted as a miR-203a-3p sponge to restore the expression of miRNA target gene SOCS3, resulting in a less aggressive oncogenic phenotype. circTADA2As as promising prognostic biomarkers in TNBC patients, and therapeutic targeting of circTADA2As/miRNA/mRNA network may be a potential strategy for the treatment of breast cancer. | biomarker | {
"id": 406986,
"name": "MIR203A",
"pos": [
188,
8
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
487,
13
]
} |
Among the genes at the two newly associated loci are genes encoding nicotine-metabolizing enzymes (CYP2A6 and CYP2B6) and nicotinic acetylcholine receptor subunits (CHRNB3 and CHRNA6), all of which have been highlighted in previous studies of smoking and nicotine dependence. | NA | {
"id": 1555,
"name": "CYP2B6",
"pos": [
110,
6
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
243,
7
]
} |
MRI of the thoracolumbar spine showed extensive myelitis of the thoracic spine complicating left psoas abscess without definite extension to the spinal cord or cord compression. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
0,
3
]
} | {
"id": "C0085222",
"name": "Psoas Abscess",
"pos": [
97,
13
]
} |
No cases of lupus anticoagulants, protein C, or protein S deficiencies were detected. | NA | {
"id": 5624,
"name": "PROC",
"pos": [
34,
9
]
} | {
"id": "C0024131",
"name": "Lupus Vulgaris",
"pos": [
12,
5
]
} |
In addition, the interactions between oral hygiene and the polymorphisms of TLR2 and TLR4 on the OS of HNC patients were assessed. | genomic_alterations | {
"id": 7099,
"name": "TLR4",
"pos": [
85,
4
]
} | {
"id": "C0278996",
"name": "Malignant Head and Neck Neoplasm",
"pos": [
103,
3
]
} |
Myxoid and round-cell liposarcomas share the translocation t(12;16)(q13;p11) creating the TLS-CHOP fusion gene as a common genetic alteration. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
72,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
45,
13
]
} |
Reactive species balance via GTP cyclohydrolase I regulates glioblastoma growth and tumor initiating cell maintenance. | biomarker | {
"id": 60491,
"name": "NIF3L1",
"pos": [
29,
20
]
} | {
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
60,
12
]
} |
Indirubin derivatives that were potent GSK-3β inhibitors (relative to CDK1) stimulated LNCaP cell proliferation and other androgenic responses, suggesting (in a cancer treatment context) these compounds may increase AR-dependent prostate cancer growth if not used within an appropriate therapeutic dose-range. | biomarker | {
"id": 983,
"name": "CDK1",
"pos": [
70,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
161,
6
]
} |
In a multivariable analysis that included hemoglobin, platelet count, absolute monocyte count and circulating immature myeloid cells (Mayo model), the presence of ASXL1 mutations (P=0.01) and absence of TET2 mutations (P=0.003) retained prognostic significance. | NA | {
"id": 54790,
"name": "TET2",
"pos": [
203,
4
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
42,
10
]
} |
We performed TP53 mutation analysis and genomewide analysis of loss of heterozygosity and allelic imbalance on DNA from isolated neoplastic epithelial and stromal cells from 43 patients with hereditary breast cancer and 175 patients with sporadic breast cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
13,
4
]
} | {
"id": "C0346153",
"name": "Breast Cancer, Familial",
"pos": [
191,
24
]
} |
Expression of p27, a cyclin-dependent kinase (CDK) inhibitor whose major target is the cyclin E/CDK2 complex, was found to increase during this process, and this increase was accompanied by translocation of p27 from the nucleus to the cytoplasm. | NA | {
"id": 1017,
"name": "CDK2",
"pos": [
96,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
190,
13
]
} |
applied NPY, peptide YY (PYY), and an NPY Y5 receptor-selective agonist dose-dependently potentiate concanavalin A (Con A)-induced paw edema in the rat. | NA | {
"id": 4852,
"name": "NPY",
"pos": [
8,
3
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
135,
5
]
} |
To clarify the target of 18qLOH, mutation of Smad4 and Smad2 genes was analysed in 176 colorectal tumors with different stages, including liver metastasis, from 111 sporadic, 52 familial adenomatous polyposis (FAP) and nine hereditary nonpolyposis colorectal cancer (HNPCC) patients. | NA | {
"id": 4087,
"name": "SMAD2",
"pos": [
55,
5
]
} | {
"id": "C0032580",
"name": "Adenomatous Polyposis Coli",
"pos": [
178,
30
]
} |
This FMR2-related gene family encodes nuclear proteins with involvement in mental retardation (FMR2), cancer (AF4), and lymphocyte differentiation (LAF4) or with unknown function (EST W26686 and/or AA025630). | NA | {
"id": 2334,
"name": "AFF2",
"pos": [
95,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
102,
6
]
} |
In the present study, we demonstrated that miR-133b reduced PTBP1 expression at translational level and that the expression levels of miR-133b were significantly downregulated in gastric cancer clinical samples and human cell lines, whereas the protein expression level of PTBP1 was upregulated in 80% of the 20 clinical samples of gastric cancer examined. | NA | {
"id": 5725,
"name": "PTBP1",
"pos": [
273,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
332,
14
]
} |
We also discuss the dysregulation or misexpression of AID in autoimmunity and tumorigenesis. | NA | {
"id": 57379,
"name": "AICDA",
"pos": [
54,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
78,
13
]
} |
The patient harbored a novel sporadic mutation (V41L) in GJA1 (Cx43) as well as a heterozygous coding variant (R127H) of GJB2 (Cx26). | NA | {
"id": 2706,
"name": "GJB2",
"pos": [
127,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
29,
8
]
} |
The results further support the conclusions of our study because the dissociation between the GPX1*2/*1 and HBB*A/*S genotypes does not appear to be related either to a general decrease in heterozygosity or to an increased risk of sudden death in HBB*A/*S individuals. | NA | {
"id": 3043,
"name": "HBB",
"pos": [
247,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
69,
12
]
} |
Of interest, when hypoxic DC were maturated with lipopolysaccharide (LPS), we did not observe an increased cell death, while HIF-1α accumulation and BNIP3 expression were still significantly upregulated. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
125,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
18,
7
]
} |
Women who acquired multiple viral genotypes had a significantly higher viral load (median, 4.84 versus 4.64 log(10) copies/ml, P = 0.04) and a significantly lower CD4(+)-T-cell count (median, 416 versus 617 cells/mm(3), P = 0.01) 4 to 24 months after infection compared to women who were infected with a single viral genotype. | NA | {
"id": 920,
"name": "CD4",
"pos": [
163,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
71,
10
]
} |
The DDR signaling is mainly mediated by the ATR (ataxia telangiectasia-mutated and Rad3-related) pathway, which promotes replication of the viral genome; however, the exact mechanisms employed by B19V to take advantage of the DDR for virus replication remain unclear. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
44,
3
]
} | {
"id": "C0004135",
"name": "Ataxia Telangiectasia",
"pos": [
49,
21
]
} |
Thus, the present study demonstrates that there is an association of endothelial nitric oxide synthase gene (G894T) polymorphism with diabetes mellitus among South Indians. | genomic_alterations | {
"id": 4846,
"name": "NOS3",
"pos": [
69,
33
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
134,
17
]
} |
T2D-related variants HHEX rs7923837, TCF7L2 rs290481 and CDKAL1 rs7756992 increased cancer risk in patients with diabetes. | genomic_alterations | {
"id": 6934,
"name": "TCF7L2",
"pos": [
37,
6
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
113,
8
]
} |
These results indicate that urinary plasmin could contribute to the downstream effects of proteinuria on the tubulointerstitium by negatively modulating TRPV5. | NA | {
"id": 56302,
"name": "TRPV5",
"pos": [
153,
5
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
90,
11
]
} |
[Effect of electroacupuncture intervention on blood-lipid, high-sensitivity C-reactive protein and adiponectin levels in hyperlipidemia rats]. | therapeutic | {
"id": 9370,
"name": "ADIPOQ",
"pos": [
99,
11
]
} | {
"id": "C0020473",
"name": "Hyperlipidemia",
"pos": [
121,
14
]
} |
Two hundred sixty-two evaluable, primary, high-risk stage I (grade 3, or aneuploid grade 1 or 2, or clear cell) and stage II-IV EOCs, collected at the University Hospitals Leuven and within the European Organisation for Research and Treatment of Cancer 55971 trial, were genotyped for hotspot mutations in KRAS (COSMIC [Catalogue of Somatic Mutations in Cancer] coverage >97%), BRAF (>94%), NRAS (>97%), PIK3CA (>79%), PTEN, FBXW7 (>57%), AKT2, AKT3, and FOXL2, using Sequenom MassARRAY. | NA | {
"id": 668,
"name": "FOXL2",
"pos": [
455,
5
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
73,
9
]
} |
Hence, functional polymorphisms in NAT1, the gene encoding NAT1, could influence the risk of spina bifida via either folate catabolism or acetylation of exogenous agents. | NA | {
"id": 1982,
"name": "EIF4G2",
"pos": [
59,
4
]
} | {
"id": "C0080178",
"name": "Spina Bifida",
"pos": [
93,
12
]
} |
Surprisingly, HL001 selectively suppresses tumor growth in p53 wild-type NSCLC harboring Arg72 homozygous alleles (p53-72R) through disrupting interaction between MDM2 and p53-72R in a CypA-dependent manner. | genomic_alterations | {
"id": 4193,
"name": "MDM2",
"pos": [
163,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
43,
5
]
} |
The PNPLA3 I148M polymorphism may represent a permissive factor for fibrosis progression in patients with C282Y+/+ HH. | NA | {
"id": 80339,
"name": "PNPLA3",
"pos": [
4,
6
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
68,
8
]
} |
Subgroup analyses according to histology [diffuse large B-cell lymphoma (DLBL), follicular lymphoma, low-grade lymphoma of mucosa associated lymphoid tissue, and others] failed to illustrate differences except for DLBL which showed a possible association with IL-1A and IL-1B polymorphisms. | NA | {
"id": 3553,
"name": "IL1B",
"pos": [
270,
5
]
} | {
"id": "C0079747",
"name": "Low Grade Lymphoma (neoplasm)",
"pos": [
101,
18
]
} |
After adjustment for the covariates of age, gender, smoking, alcohol use, systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), triglyceride (TG), and total cholesterol (TC), the diabetic protective effect of the rs2283171-G allele remained. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
131,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
61,
11
]
} |
BNP may play a pivotal role in anti-apoptosis of astrocytes under hypoxia. | NA | {
"id": 4879,
"name": "NPPB",
"pos": [
0,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
66,
7
]
} |
Thirty-nine cases of different lymphoid pathology [10 Burkitt lymphoma, 1 B-cell NHL; 7 T-cell lymphoblastic lymphoma; 4 anaplastic large cell lymphoma (LCL); 2 B-cell LCL; 14 nodular sclerosing Hodgkin disease (NSHD); and 1 B-cell acute lymphoblastic leukemia (ALL)] had methylation-specific polymerase chain reaction performed on bisulfite-treated DNA, which distinguishes the methylation status of the promoter region, and DAP-kinase mRNA expression assays performed on available specimens. | NA | {
"id": 1611,
"name": "DAP",
"pos": [
426,
3
]
} | {
"id": "C0024302",
"name": "Reticulosarcoma",
"pos": [
132,
19
]
} |
We determined expression changes in PlGF and its receptor, VEGFR1, in normal and abnormal biopsies from human cardiac allografts and in cardiomyocytes cultured under hypoxia or cyclical stretch conditions. | NA | {
"id": 2321,
"name": "FLT1",
"pos": [
59,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
166,
7
]
} |
The study provides further support for the existence of MHC-restricted idiotype-specific T cells, which may target immunogenic CDR peptides in multiple myeloma. | NA | {
"id": 1109,
"name": "AKR1C4",
"pos": [
127,
3
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
143,
16
]
} |
In all cases, DNA aneuploidy was confined almost entirely to the CD38+2, CD19- malignant plasma cells, while cells expressing CD19 were diploid. | NA | {
"id": 930,
"name": "CD19",
"pos": [
73,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
18,
10
]
} |
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