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dict |
|---|---|---|---|
Late complications of SAH are - among others - aneurysm revascularization and rebleeding. | NA | {
"id": 6296,
"name": "ACSM3",
"pos": [
22,
3
]
} | {
"id": "C0002940",
"name": "Aneurysm",
"pos": [
47,
8
]
} |
MLL-CBP fusion transcript in a therapy-related acute myeloid leukemia with the t(11;16)(q23;p13) which developed in an acute lymphoblastic leukemia patient with Fanconi anemia. | genomic_alterations | {
"id": 1387,
"name": "CREBBP",
"pos": [
4,
3
]
} | {
"id": "C1961102",
"name": "Precursor Cell Lymphoblastic Leukemia Lymphoma",
"pos": [
119,
28
]
} |
Moreover, KSHV genome-wide screening revealed that four hypoxia-responsive clusters have a high concurrence of both RBP-Jκ and HIF-1α binding sites (RBS+HRE) within the same gene promoter and are tightly associated with KAP1. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
127,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
56,
7
]
} |
To study the relationship between the ACE insertion/deletion (I/D) polymorphism, blood pressure and risk of hypertension in current, former and non-smokers in a population-based cohort. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
38,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
81,
14
]
} |
In 18 of 20 cases of IPF/UIP investigated on serial sections, nuclear beta-catenin immunoreactivity and abnormal levels of cyclin-D1 and matrilysin were demonstrated in proliferative bronchiolar lesions (basal-cell hyperplasia, squamous metaplasia, bronchiolization, honeycombing). | NA | {
"id": 4316,
"name": "MMP7",
"pos": [
138,
10
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
216,
11
]
} |
Moreover, MC4R and BDNF variants increased the risk of metabolic syndrome, probably through their effect on abdominal obesity. | NA | {
"id": 627,
"name": "BDNF",
"pos": [
19,
4
]
} | {
"id": "C0311277",
"name": "Obesity, Abdominal",
"pos": [
108,
17
]
} |
Erratum: A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness: Erratum. | genomic_alterations | {
"id": 23158,
"name": "TBC1D9",
"pos": [
45,
4
]
} | {
"id": "C3496337",
"name": "Idiopathic Nephrotic Syndrome",
"pos": [
68,
29
]
} |
Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis. | NA | {
"id": 646982,
"name": "LINC00598",
"pos": [
39,
3
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
61,
28
]
} |
In conclusion, our research revealed the potential role of XIST-TET1-p53 regulatory network in bladder cancer. | biomarker | {
"id": 80312,
"name": "TET1",
"pos": [
64,
4
]
} | {
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
95,
14
]
} |
This study was conducted to investigate the correlation between spontaneous recurrent miscarriage (RM) and common polymorphisms in angiotensin-converting enzyme (ACE), plasminogen activator inhibitor 1 (PAI-1) and endothelium-derived nitric oxide synthase 3 (NOS3) genes among women experiencing RM in the Gaza Strip. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
162,
3
]
} | {
"id": "C0000809",
"name": "Abortion, Habitual",
"pos": [
76,
21
]
} |
Xinfeng capsule can improve pulmonary function by regulating the levels of Tregs, inhibiting the activation of Th1 to Th2 cells, inducing drift, maintaining cell immune suppression, correcting the imbalance of Th1/Th2, and reducing inflammatory mediators. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
111,
3
]
} | {
"id": "C3160731",
"name": "Pulmonary function (finding)",
"pos": [
28,
18
]
} |
Because CCR7, CCL19 and CCL21 are key mediators balancing immunity and tolerance in the immune system, the abnormalities of these mediators might contribute to the profound immune dysregulation seen in CVID. | NA | {
"id": 1236,
"name": "CCR7",
"pos": [
8,
4
]
} | {
"id": "C1844666",
"name": "Immune dysregulation",
"pos": [
173,
20
]
} |
The findings show that immunocytochemically demonstrable over expression of p53 correlates with other morphological markers of aggressiveness in T1 gastric adenocarcinoma. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
76,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
127,
14
]
} |
The relationships between single nucleotide polymorphisms (SNPs) in COL1A1 and COL1A2, bone mass acquisition, and childhood fractures are unclear. | NA | {
"id": 1277,
"name": "COL1A1",
"pos": [
68,
6
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
87,
9
]
} |
Immunohistochemical staining of serial plaque sections with specific cell markers revealed highly different expression patterns of PARC and ELC. | NA | {
"id": 6363,
"name": "CCL19",
"pos": [
140,
3
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
39,
6
]
} |
Most of the tumor samples analyzed had activating epidermal growth factor receptor gene (EGFR) mutations (18 of 20 [90%]); 50% (10 of 20) had a concurrent resistance mutation. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
50,
32
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
12,
5
]
} |
Taken together, these data suggest that Dnmt1 is rapidly activated by pRb pathway inactivation, and that DNA methyltransferase activity is required for malignant transformation and tumorigenesis. | NA | {
"id": 1786,
"name": "DNMT1",
"pos": [
40,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
181,
13
]
} |
This was associated with significant improvement in lung perfusion and vascular remodeling due to decrease in proliferation (>50% decrease) and BMPR2/PPARγ axis restoration (increased by ≥60%). | NA | {
"id": 5468,
"name": "PPARG",
"pos": [
150,
5
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
71,
19
]
} |
Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. | genomic_alterations | {
"id": 775,
"name": "CACNA1C",
"pos": [
48,
7
]
} | {
"id": "C1560249",
"name": "Adverse Event Associated with Cardiac Arrhythmia",
"pos": [
9,
18
]
} |
Examination of lungs from influenza-infected mice revealed augmented levels of collagen deposition, phosphorylated Smad2/3, αvβ6 integrin, and apoptotic cells. | NA | {
"id": 4087,
"name": "SMAD2",
"pos": [
115,
5
]
} | {
"id": "C0021400",
"name": "Influenza",
"pos": [
26,
9
]
} |
In contrast, age- and size-matched classic papillary microcarcinomas (n=26) showed no extrathyroidal extension (p=0.002), lymphovascular invasion in 1, central compartment lymph node metastasis in 2, lateral cervical node metastasis in 1, multifocal tumors in 10 (38.5%), the BRAF(V600E) mutation in 20 (76.9%), and it infrequently presented in stage III/IVA (7.7%, p=0.02). | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
276,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
250,
6
]
} |
Expression analysis elucidates the roles of MAML1 and Twist1 in esophageal squamous cell carcinoma aggressiveness and metastasis. | NA | {
"id": 9794,
"name": "MAML1",
"pos": [
44,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
99,
14
]
} |
The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including EMX2 reported to date. | NA | {
"id": 2018,
"name": "EMX2",
"pos": [
216,
4
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
150,
23
]
} |
Most pancreatic tumours expressed variable levels of both SULF1 and SULF2 variants including some expression during inflammation and pancreatitis. | NA | {
"id": 23213,
"name": "SULF1",
"pos": [
58,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
116,
12
]
} |
In addition, patients carrying the delta ccr5 allele tend to show a slow progression towards HIV-1-related disease, remaining asymptomatic for longer periods of time. | NA | {
"id": 1234,
"name": "CCR5",
"pos": [
41,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
126,
12
]
} |
Identification of an RPGR mutation in atrophic maculardegeneration expands the phenotypic range associated with this gene and provides a new tool for the dissection of the relationship between clinically different retinal pathologies. | NA | {
"id": 6103,
"name": "RPGR",
"pos": [
21,
4
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
38,
8
]
} |
Furthermore, PAR-2(-/-) mice were protected against hypoxia-induced PH, and PAR-2 antagonist application reversed established PH in the hypoxia mouse model. | NA | {
"id": 10899,
"name": "JTB",
"pos": [
76,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
136,
7
]
} |
This study also revealed the presence of six polymorphisms in Turkish DMD/BMD patients. | genomic_alterations | {
"id": 1756,
"name": "DMD",
"pos": [
70,
3
]
} | {
"id": "C0339510",
"name": "Vitelliform Macular Dystrophy",
"pos": [
74,
3
]
} |
Point mutations on exon 2 of parkin gene are likely to be related to sporadic early-onset Parkinson's disease. | NA | {
"id": 5071,
"name": "PRKN",
"pos": [
29,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
69,
8
]
} |
Protective effect of naringenin in experimental ischemic stroke: down-regulated NOD2, RIP2, NF-κB, MMP-9 and up-regulated claudin-5 expression. | therapeutic | {
"id": 7122,
"name": "CLDN5",
"pos": [
114,
9
]
} | {
"id": "C0740392",
"name": "Infarction, Middle Cerebral Artery",
"pos": [
11,
6
]
} |
Alterations of the p15, p16,and p18 genes in osteosarcoma. | biomarker | {
"id": 122664,
"name": "TPPP2",
"pos": [
32,
3
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
45,
12
]
} |
Weight loss induced by very-low-calorie diet lowered SPARC expression by 33% and increased by 30% in adipose tissue of subjects gaining weight after a fast-food diet. | NA | {
"id": 6678,
"name": "SPARC",
"pos": [
53,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
136,
6
]
} |
We selected three human cancer cell lines [human melanoma (SEKI), human melanoma (G361), and human neuroepithelioma (NAGAI)] that have an ability to develop cancer cachexia syndrome with and without accompanying anorexia and examined the hypothalamic levels of mRNAs for neuropeptide Y (NPY), melanin-concentrating hormone, and orexin. | NA | {
"id": 5367,
"name": "PMCH",
"pos": [
293,
29
]
} | {
"id": "C0006625",
"name": "Cachexia",
"pos": [
164,
8
]
} |
DJ-1 might improve mitochondrial function, inhibit ROS production and enhance antioxidant capacity to reduce apoptosis of retinal pericytes through the PI3K/AKT/mTOR signaling pathway which may be related to early pathogenesis of diabetic retinopathy. | biomarker | {
"id": 207,
"name": "AKT1",
"pos": [
157,
3
]
} | {
"id": "C0011884",
"name": "Diabetic Retinopathy",
"pos": [
230,
20
]
} |
The majority of human emerging infectious diseases are zoonotic, with viruses that originate in wild mammals of particular concern (for example, HIV, Ebola and SARS). | biomarker | {
"id": 54938,
"name": "SARS2",
"pos": [
160,
4
]
} | {
"id": "C0282687",
"name": "Hemorrhagic Fever, Ebola",
"pos": [
150,
5
]
} |
Neuronal NF-κB ablation does not influence neuro-axonal degeneration in experimental autoimmune demyelination. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
9,
5
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
96,
13
]
} |
The Nrf2-Keap1 pathway is important in protecting against oxidative stress and inflammation. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
4,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
79,
12
]
} |
From 1987 to 2001, DMC for CS I seminomatous germ cell tumor (SGCT) patients were EUR 13.790 ± 4.700. | biomarker | {
"id": 57823,
"name": "SLAMF7",
"pos": [
27,
4
]
} | {
"id": "C3900101",
"name": "Adult Germ Cell Tumor",
"pos": [
62,
4
]
} |
Both groups did not differ in age, body weight and height, blood pressure, heart rate, plasma catecholamine levels, plasma renin activity (PRA), and lymphocyte beta 2-adrenoceptor density. | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
139,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
35,
11
]
} |
The present study examined genotypes for the obesity-associated ApaLI restriction fragment length polymorphism of LDLR, and genotypes for a hypertension-associated RsaI restriction fragment length polymorphism at the insulin receptor gene (INSR) locus, which is linked to LDLR, in relation to plasma lipids, body mass index and blood pressure in 27 obese and 57 non-obese Caucasians with severe essential hypertension, selected on the basis of having parents who were both hypertensive, and in 25 obese and 45 non-obese normotensive subjects selected on the basis of having parents who were both normotensive after the age of 50 years.2. | genomic_alterations | {
"id": 3643,
"name": "INSR",
"pos": [
217,
16
]
} | {
"id": "C0085580",
"name": "Essential Hypertension",
"pos": [
395,
22
]
} |
Intraplaque hemorrhage was determined by the presence of a hyperintense MRI signal (T1-weighted sequence). | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
72,
3
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
12,
10
]
} |
Rhapontigenin significantly suppressed HIF-1α accumulation at protein level but not at mRNA level in PC-3 cells under hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
39,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
118,
7
]
} |
Seventeen polymorphisms in regulatory and coding regions of genes controlling VCR targets (TUBB1, MAP4, ACTG1 and CAPG) or potentially influencing VCR levels (ABCB1 and CYP3A5) were investigated for an association with peripheral neuropathy and outcome in childhood ALL patients. | genomic_alterations | {
"id": 1577,
"name": "CYP3A5",
"pos": [
169,
6
]
} | {
"id": "C0031117",
"name": "Peripheral Neuropathy",
"pos": [
219,
21
]
} |
MYD88 L265P is a commonly recurring mutation in patients with Waldenström's macroglobulinemia that can be useful in differentiating Waldenström's macroglobulinemia and non-IgM LPL from B-cell disorders that have some of the same features. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
176,
3
]
} | {
"id": "C0024419",
"name": "Waldenstrom Macroglobulinemia",
"pos": [
146,
17
]
} |
This is the first study to investigate the role of genetic variants of GSTM1 and GSTT1 in GBC in Kashmir valley and cholelithiasis in the world. | genomic_alterations | {
"id": 2944,
"name": "GSTM1",
"pos": [
71,
5
]
} | {
"id": "C4525300",
"name": "Stage IIA Gallbladder Cancer AJCC v8",
"pos": [
90,
3
]
} |
We analyzed 15 patients carrying the GLA haplotype -10C>T [rs2071225], IVS2-81_-77delCAGCC [rs5903184], IVS4-16A>G [rs2071397], and IVS6-22C>T [rs2071228] for potential neurological manifestations. | NA | {
"id": 64333,
"name": "ARHGAP9",
"pos": [
52,
3
]
} | {
"id": "C0027854",
"name": "Neurologic Manifestations",
"pos": [
169,
27
]
} |
In vitro adhesion assays showed that only the metastatic cell line adheres significantly to E-selectin-expressing human endothelial cells. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
92,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
9,
8
]
} |
MYD88 and CD79B mutations were detected in 33% (13 patients) and 38% (15 patients), respectively, of the 40 patients with CD5<sup>+</sup> DLBCL. | genomic_alterations | {
"id": 4615,
"name": "MYD88",
"pos": [
0,
5
]
} | {
"id": "C0079744",
"name": "Diffuse Large B-Cell Lymphoma",
"pos": [
150,
5
]
} |
The translocation liposarcoma (TLS) gene is fused to the ETS-related gene (ERG) in human myeloid leukemia, resulting in the generation of a TLS-ERG protein. | NA | {
"id": 2078,
"name": "ERG",
"pos": [
144,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
13
]
} |
In addition to revealing genomic amplification and gene upregulation, we identified recurrent E135K (3/48 cases) mutations in HCC tissues and K237R mutation in the PLC/PRF/5 HCC cell line. | genomic_alterations | {
"id": 3339,
"name": "HSPG2",
"pos": [
164,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
174,
3
]
} |
Western blot analyses indicated that accumulation of chlamydial major outer membrane protein (MOMP) was decreased by HSV co-infection while accumulation of chlamydial heat-shock protein 60-1 (HSP60-1) was increased. | NA | {
"id": 3329,
"name": "HSPD1",
"pos": [
192,
5
]
} | {
"id": "C0275524",
"name": "Coinfection",
"pos": [
121,
12
]
} |
As the human homologue of the mouse progressive ankylosis (ANKH) and alkaline phosphatase (ALPL) are known functional partners of ENPP1 in bone mineralization, we hypothesized that these genes may also be jointly involved in determining obesity features. | NA | {
"id": 249,
"name": "ALPL",
"pos": [
91,
4
]
} | {
"id": "C0003090",
"name": "Ankylosis",
"pos": [
48,
9
]
} |
Leukocytes mRNA levels of TMEM40 and LY6G6F and other genes mainly involved in inflammation were significantly higher in patients carrying GRN mutations compared with asymptomatic carriers and other FTLD. | NA | {
"id": 55287,
"name": "TMEM40",
"pos": [
26,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
79,
12
]
} |
The aim of the present study was to examine the IL18 promoter polymorphism in patients with RA in association with disease susceptibility and activity. | genomic_alterations | {
"id": 3606,
"name": "IL18",
"pos": [
48,
4
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
92,
2
]
} |
Substance P via neurokinin 1 (NK-1) receptors and bradykinin via B2 receptors are described to play important roles in the pathophysiology of acute pancreatitis. | NA | {
"id": 27087,
"name": "B3GAT1",
"pos": [
30,
4
]
} | {
"id": "C0001339",
"name": "Acute pancreatitis",
"pos": [
142,
18
]
} |
Pooled data using a fixed-effects model suggested significant associations between the 5HTT LPR, DRD4 c>t, DRD4 length, DRD2 A1/A2, DRD3 A1/A2 polymorphisms and personality traits. | NA | {
"id": 1814,
"name": "DRD3",
"pos": [
132,
4
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
161,
18
]
} |
HLA-G in human reproduction: aspects of genetics, function and pregnancy complications. | NA | {
"id": 3135,
"name": "HLA-G",
"pos": [
0,
5
]
} | {
"id": "C0032962",
"name": "Pregnancy Complications",
"pos": [
63,
23
]
} |
This relationship persisted after separate adjustments for various risk factors including sex, age, LDL cholesterol, HDL cholesterol, triglycerides, total cholesterol, C-reactive protein, systolic blood pressure, body mass index and alcohol consumption. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
168,
18
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
213,
15
]
} |
Since abnormalities in connective tissue cross-linking have been reported in ALS patients, an enzyme of possible relevance is lysyl oxidase (LOX), a copper-containing enzyme which catalyses the crosslinking of collagens and elastin. | NA | {
"id": 4015,
"name": "LOX",
"pos": [
141,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
6,
13
]
} |
The mutant MYO1A(7A) protein was shown to lose its membrane localization in gastric cancer cells and a cycloheximide-chase assay demonstrated that the mutant MYO1A(7A) protein has reduced stability compared to the wild type MYO1A. | NA | {
"id": 4640,
"name": "MYO1A",
"pos": [
226,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
77,
14
]
} |
Detailed analysis of p53 pathway defects in fludarabine-refractory chronic lymphocytic leukemia (CLL): dissecting the contribution of 17p deletion, TP53 mutation, p53-p21 dysfunction, and miR34a in a prospective clinical trial. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
167,
3
]
} | {
"id": "C0278791",
"name": "Chronic lymphocytic leukaemia refractory",
"pos": [
56,
39
]
} |
These results demonstrate that AKT1 E17K mutation in advanced colorectal carcinoma is associated with mucinous morphology, PIK3CA wild-type status, and concurrent RAS/RAF mutations with similar pattern to PIK3CA exon 21 mutants. | genomic_alterations | {
"id": 5894,
"name": "RAF1",
"pos": [
167,
3
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
62,
20
]
} |
In this tumor subtype, the risk for melanoma associated with MC1R is due to an increase in risk of developing melanomas with BRAF mutations. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
125,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
8,
5
]
} |
The cumulative proportion of patients who developed pancreatitis through to the age of 50 years was significantly greater for genotypes associated with mild (50%) than moderate-severe (27%) PIP scores (P = .006). | NA | {
"id": 5304,
"name": "PIP",
"pos": [
190,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
152,
4
]
} |
We measured the acute inflammatory response using coronary artery bypass surgery (CABG) as a well-characterized and uniform stimulus and examined the correlation between levels of IL-6, C-reactive protein (CRP) and fibrinogen and their relationship to HO-1 genotype. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
180,
4
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
215,
10
]
} |
Functional investigations showed that knockdown of ILF3-AS1 suppressed the proliferation, migration and invasion of osteosarcoma cells, and promoted apoptosis. | biomarker | {
"id": 147727,
"name": "ILF3-DT",
"pos": [
51,
8
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
104,
8
]
} |
Transgenic expression of Map3k4 rescues T-associated sex reversal (Tas) in mice. | NA | {
"id": 4216,
"name": "MAP3K4",
"pos": [
25,
6
]
} | {
"id": "C4022995",
"name": "Sex reversal",
"pos": [
53,
12
]
} |
The GSTs and megalin expression is genetically polymorphic, which might be responsible for the variability in cisplatin-induced ototoxicity. | NA | {
"id": 4036,
"name": "LRP2",
"pos": [
13,
7
]
} | {
"id": "C0235280",
"name": "Ototoxicity",
"pos": [
128,
11
]
} |
These data further suggest a major categorization of TGFbeta responses into DPC4-dependent and -independent signaling pathways and specifically suggest that disruption of the TGFbeta-independent signal might be a basis of selection for the emergence of DPC4 alterations during tumorigenesis in the pancreas and other sites. | NA | {
"id": 4089,
"name": "SMAD4",
"pos": [
253,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
277,
13
]
} |
We recently reported that POP inhibition suppressed the growth of human neuroblastoma cells. | biomarker | {
"id": 5550,
"name": "PREP",
"pos": [
26,
3
]
} | {
"id": "C4086165",
"name": "Childhood Neuroblastoma",
"pos": [
72,
13
]
} |
IL-21 regulates Th17 cells in rheumatoid arthritis. | NA | {
"id": 27189,
"name": "IL17C",
"pos": [
0,
5
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
30,
20
]
} |
To define the TH1(IFN-gamma) and TH2(IL-4) cytokine profiles in systemic sclerosis (Sscl), a disease characterized by widespread fibrosis, we investigated IL-4 and IFN-gamma transcripts in peripheral blood mononuclear cells and plasma protein levels in 13 patients with Sscl. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
14,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
129,
8
]
} |
A single-nucleotide polymorphism within the proband's maternally derived SHBG allele encodes a missense mutation, P156L, which allows for normal steroid ligand binding but causes abnormal glycosylation and inefficient secretion of SHBG. | NA | {
"id": 6462,
"name": "SHBG",
"pos": [
231,
4
]
} | {
"id": "C4022946",
"name": "Abnormal glycosylation",
"pos": [
179,
22
]
} |
The depletion of PARN arrested the gastric cancer cells at the G0/G1 phase by upregulating the expression levels of p53 and p21 but not p27. | NA | {
"id": 5073,
"name": "PARN",
"pos": [
17,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
35,
14
]
} |
Mapping of the human immunodeficiency virus type 2 envelope glycoprotein CD4 binding region and fusion domain with truncated proteins expressed by recombinant vaccinia viruses. | biomarker | {
"id": 64006,
"name": "ERVK-6",
"pos": [
51,
21
]
} | {
"id": "C0375021",
"name": "Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site",
"pos": [
15,
35
]
} |
Furthermore, C-ALCL and PTL-NOS showed aberrant expression of distinct genes implicated in apoptosis and proliferation, such as IRF4/MUM1 and PRKCQ, which may account for differences in clinical aggressiveness. | NA | {
"id": 5588,
"name": "PRKCQ",
"pos": [
142,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
195,
14
]
} |
None of the SNPs in ADIPOR1 or ADIPOR2 were significantly associated with insulin resistance or type 2 diabetes. | NA | {
"id": 79602,
"name": "ADIPOR2",
"pos": [
31,
7
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
74,
18
]
} |
As progesterone enhances breast cancer tumorigenesis in a context dependent manner, inhibition of SIPL1 expression may contribute to progesterone's non-tumorigenic function which might be countered by SIPL1 upregulation. | NA | {
"id": 81858,
"name": "SHARPIN",
"pos": [
201,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
39,
13
]
} |
We report three patients in a consanguineous family harboring the novel homozygous c.1168C>T (p.R390*) in SPG56/CYP2U1, and showing a pigmentary degenerative maculopathy associated with progressive spastic paraplegia. | NA | {
"id": 113612,
"name": "CYP2U1",
"pos": [
112,
6
]
} | {
"id": "C1855483",
"name": "Progressive spastic paraplegia",
"pos": [
186,
30
]
} |
The translocation leads to the apparent deregulation of two genes located on 4p16.3, the fibroblast growth-factor receptor 3 (FGFR3), and the putative transcription factor multiple myeloma SET domain (MMSET), and to the generation of IGH/MMSET hybrid transcripts. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
234,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
13
]
} |
Seven markers with moderate to high frequency of methylation (SYNE1, MMP2, CD109, EVL, RET, LGR and PTPRD) had very low levels of chromosomal aberrations. | NA | {
"id": 135228,
"name": "CD109",
"pos": [
75,
5
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
130,
23
]
} |
We have investigated the role of p53 mutations in tumorigenesis in British patients with HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
89,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
50,
13
]
} |
Furthermore, among patients with a low viral load, the LMP7-K positive patients had a significantly higher ratio of sustained response compared to those without LMP7-K. | NA | {
"id": 5696,
"name": "PSMB8",
"pos": [
55,
4
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
39,
10
]
} |
Regardless, this suggests that the control of hGH-V and hCS-L gene expression is distinct from that of the hCS-A and hCS-B genes and raises questions about the possible involvement of hGH/hCS family members in the pathology of placental abnormalities. | NA | {
"id": 1444,
"name": "CSHL1",
"pos": [
56,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
237,
13
]
} |
The HHLs had significantly higher systolic blood pressure (SBP), diastolic blood pressure (DBP) (P < 0.0001), body mass index (BMI) (P = 0.0002), plasma aldosterone levels (P = 0.03) and aldosterone to plasma renin ratio (ARR) (P < 0.0001) and lower plasma renin activity (PRA) (P = 0.007). | NA | {
"id": 1628,
"name": "DBP",
"pos": [
91,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
110,
15
]
} |
Therefore, a combination of the AGT and ADD1 polymorphisms appears to be associated with hypertension. | genomic_alterations | {
"id": 118,
"name": "ADD1",
"pos": [
40,
4
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
89,
12
]
} |
These genes include peptidoglycan recognition protein 2, dual specific phosphatase-4, tetraspanin 4, thrombospondin 1, and SPARC-related modular calcium binding protein-2, which were validated by qPCR analysis of 126 human liver specimens, including steatosis, fibrosis, and NASH, alcohol and hepatitis C cirrhosis, and in mouse models of liver inflammation and injury. | NA | {
"id": 114770,
"name": "PGLYRP2",
"pos": [
20,
35
]
} | {
"id": "C0023890",
"name": "Liver Cirrhosis",
"pos": [
305,
9
]
} |
Accelerated disease in CDK4-deficient Eμ-Myc transgenic mice was associated with rampant genomic instability that was provoked by dysregulation of a FOXO1/RAG1/RAG2 pathway. | NA | {
"id": 2308,
"name": "FOXO1",
"pos": [
149,
5
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
89,
19
]
} |
The mammalian target of rapamycin (mTOR) kinase, a downstream effector of PI3K/Akt signaling, regulates tumorigenesis and metastasis of CRCs, indicating that mTOR inhibition may have therapeutic potential. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
74,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
104,
13
]
} |
The analysis of genotype-genotype, genotype-smoking and genotype-exposure interactions by linear combinations of parameters showed significantly higher MN frequencies in the following subsets: (i) occupationally exposed workers carrying either the Thr/Thr or the Thr/Met XRCC3(241) genotypes compared to their referent counterparts (P < 0.001) and (ii) carriers of the Met/Met XRCC3(241) genotype compared to Thr/Thr XRCC3(241) carriers, as far as they are non-exposed and bear the variant (Ser/Cys or Cys/Cys) hOGG1(326) genotype (P < 0.01). | NA | {
"id": 7517,
"name": "XRCC3",
"pos": [
417,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
44,
7
]
} |
In addition, we found that EIF5A2 might activate TGF-β1 expression to induce EMT and drive aggressiveness in BC cells. | NA | {
"id": 56648,
"name": "EIF5A2",
"pos": [
27,
6
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
91,
14
]
} |
Similar observations were made using DRG neurons from the trisomy 16 mouse, an animal model of trisomy 21. | NA | {
"id": 4733,
"name": "DRG1",
"pos": [
37,
3
]
} | {
"id": "C0013080",
"name": "Down Syndrome",
"pos": [
95,
10
]
} |
In addition, WISP1 silencing suppressed TEC migration and invasion, whereas LiCI treatment promoted TEC migration and invasion. | biomarker | {
"id": 8840,
"name": "CCN4",
"pos": [
13,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
58,
8
]
} |
This study analyzes the relationship between risk factors related to overweight/obesity, insulin resistance, lipid tolerance, hypertension, endothelial function and genetic polymorphisms associated with: i) appetite regulation (leptin, melanocortin-3-receptor (MCR-3), dopamine receptor 2 (D2R)); ii) adipocyte differentiation and insulin sensitivity (peroxisome proliferator-activated receptor-gamma2 (PPAR-gamma2), tumor necrosis factor-alpha (TNF-alpha)); iii) thermogenesis and free fatty acid (FFA) transport/catabolism (uncoupling protein-1 (UCP1), lipoprotein lipase (LPL), beta2- and beta3-adrenergic receptor (beta2AR, beta3AR), fatty acid transport protein-1 (FATP-1) and iv) lipoproteins (apoliprotein E (apoE), apo CIII). | NA | {
"id": 7124,
"name": "TNF",
"pos": [
446,
9
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
69,
10
]
} |
In the current study, we examined the effects of L-NBP on learning and memory in a triple-transgenic AD mouse model (3xTg-AD) that develops both plaques and tangles with aging, as well as cognitive deficits. | biomarker | {
"id": 80347,
"name": "COASY",
"pos": [
51,
3
]
} | {
"id": "C0009241",
"name": "Cognition Disorders",
"pos": [
188,
18
]
} |
Using serial analysis of gene expression (SAGE) and DNA chip methods, we found that hepatic SeP mRNA levels correlated with insulin resistance in humans. | NA | {
"id": 55511,
"name": "SAGE1",
"pos": [
42,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
124,
18
]
} |
Activation of the IFN signaling pathway may be linked to the risk of atherosclerosis by affecting plaque formation in patients with SLE. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
18,
3
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
98,
6
]
} |
Mutations in the Crumbs homolog 1 (CRB1) gene have been reported as a risk factor for developing Coats-like changes in patients with autosomal recessive retinitis pigmentosa. | genomic_alterations | {
"id": 23418,
"name": "CRB1",
"pos": [
35,
4
]
} | {
"id": "C0339526",
"name": "Autosomal recessive retinitis pigmentosa",
"pos": [
133,
40
]
} |
These findings limit the role of exon 7 PCQAP polymorphisms in the pathogenesis of schizophrenia. | genomic_alterations | {
"id": 51586,
"name": "MED15",
"pos": [
40,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
83,
13
]
} |
Promyelocytic leukemia zinc finger-retinoic acid receptor a (PLZF-RARalpha), a fusion receptor generated as a result of a variant t(11;17) chromosomal translocation that occurs in a small subset of acute promyelocytic leukemia (APL) patients, has been shown to display a dominant-negative effect against the wild-type RARalpha/retinoid X receptor alpha (RXRalpha). | NA | {
"id": 6256,
"name": "RXRA",
"pos": [
327,
25
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
139,
25
]
} |
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