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Mutations in the immunoglobulin-like, II-III (IgII-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, short broad middle phalanges, phalangeal epiphyseal coning and broad halluces. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
73,
5
]
} | {
"id": "C0393983",
"name": "Hernia of cerebellar tonsil into foramen magnum",
"pos": [
249,
6
]
} |
Further, infusion of human recombinant MIC-1/GDF15 sufficient to raise serum levels in MIC-1(-/-) mice to within the normal human range reduced body weight and food intake. | NA | {
"id": 9518,
"name": "GDF15",
"pos": [
87,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
144,
11
]
} |
Clinical and pathological studies have demonstrated that in the majority of cases LRRK2 mutations lead to PD with classical clinical and pathological features. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
82,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
106,
2
]
} |
Exercise may exert its beneficial effects by improving muscle insulin sensitivity via the TRIM72/PI3K/Akt/mTOR pathway, contributing to the improvement of systemic insulin intolerance, and finally leading to decreased hepatic lipogenesis during NASH. | biomarker | {
"id": 5291,
"name": "PIK3CB",
"pos": [
97,
4
]
} | {
"id": "C4529962",
"name": "Fatty Liver Disease",
"pos": [
245,
4
]
} |
CCN5 (cysteine-rich 61/connective tissue growth factor/nephroblastoma overexpressed 5)/WISP-2 [WNT1 (wingless-type MMTV integration site family, member 1)-inducible signalling pathway protein 2] is an oestrogen-regulated member of the CCN family. | NA | {
"id": 8839,
"name": "CCN5",
"pos": [
87,
6
]
} | {
"id": "C0027708",
"name": "Nephroblastoma",
"pos": [
55,
14
]
} |
We recently demonstrated the activation of phosphatidylinositol 3-kinase (PI3-K/Akt) survival pathway in Jurkat T leukemia cells known for their sensitivity to the tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL)/Apo2L cytotoxic action. | NA | {
"id": 5266,
"name": "PI3",
"pos": [
74,
3
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
114,
8
]
} |
To evaluate whether morphological subsets of ependymomas are characterized by specific genetic lesions, we analyzed a series of 62 ependymal tumors, including myxopapillary ependymomas, subependymomas, ependymomas, and anaplastic ependymomas, for allelic losses on chromosome arms 10q and 22q and mutations in the PTEN and NF2 genes. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
314,
4
]
} | {
"id": "C0206655",
"name": "Alveolar rhabdomyosarcoma",
"pos": [
276,
4
]
} |
The sensitivity and specificity for the ARMS EGFR mutation test in the plasma compared with tumor tissue were 60% (54/90) and 97% (125/129), respectively. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
45,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
92,
5
]
} |
Using an animal model of airspace enlargement and PH, we show that the blockade of ADORA2B is able to attenuate the development of a PH phenotype that correlates with reduced levels of HA deposition in the vessels and the down-regulation of genes involved in the synthesis of HA. | NA | {
"id": 136,
"name": "ADORA2B",
"pos": [
83,
7
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
34,
11
]
} |
Interestingly, silencing SNRPD3 and SF3A3 exerted much stronger cytotoxicity to NSCLC cells than to lung fibroblasts, suggesting that these genes could represent useful therapeutic targets. | biomarker | {
"id": 10946,
"name": "SF3A3",
"pos": [
36,
5
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
80,
5
]
} |
Furthermore, IL-8 knockdown significantly delayed PDX GBM tumor growth in vivo (p < 0.0005). | biomarker | {
"id": 3576,
"name": "CXCL8",
"pos": [
13,
4
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
54,
3
]
} |
The homeobox gene NKX6.1 was recently identified in cervical tumors. | NA | {
"id": 4825,
"name": "NKX6-1",
"pos": [
18,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
61,
6
]
} |
I/R markedly depressed renal blood flow and increased the production in O2, PGE2, the expression in P47 and Rac-1 expression of two nicotinamide adenine dinucleotide phosphate oxidase subunits, cytosolic cytochrome C release, proapoptotic marker lamin expression, the pathologic appearance of necrosis, apoptosis, and autophagy, and blood urea nitrogen and creatinine levels in the damaged kidneys. | NA | {
"id": 5879,
"name": "RAC1",
"pos": [
108,
5
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
293,
8
]
} |
IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance. | NA | {
"id": 283120,
"name": "H19",
"pos": [
5,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
88,
18
]
} |
The analysis showed that more than 50% of these genes, particularly AKT1, BDNF, CAPON, CCKAR, CHRNA7, CNR1, COMT, DNTBP1, GAD1, GRM3, IL10, MLC1, NOTCH4, NRG1, NR4A2/NURR1, PRODH, RELN, RGS4, RTN4/NOGO and TNF, are subject to regulation by hypoxia and/or are expressed in the vasculature. | NA | {
"id": 5625,
"name": "PRODH",
"pos": [
173,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
240,
7
]
} |
Glycosylphosphatidylinositol-specific phospholipase D (GPI-PLD) may play an important role in inflammation, because it can hydrolyze the GPI anchors of several inflammatory membrane proteins (eg, CD106, CD55, and CD59) and its hydrolytic products upregulate macrophage cytokine expression (eg, interleukin-1 and tumor necrosis factor-alpha). | NA | {
"id": 1604,
"name": "CD55",
"pos": [
203,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
94,
12
]
} |
In this study we sought to determine whether hypoxia detected by (18)F-fluoromisonidazole (FMISO) PET accurately reflects the expression of HIF-1α and VEGF in the tumour and can be used as a biomarker of antiangiogenic treatment and as a prognostic factor in newly diagnosed and recurrent malignant gliomas. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
140,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
45,
7
]
} |
REE, fat-free mass (FFM)-adjusted REE (REE/Kg FFM), respiratory quotient (RQ), substrate oxidation (carbohydrates, lipids, and proteins), energy intake, anthropometric parameters, body composition (evaluated by BIA), blood pressure, insulin sensitivity (as calculated by Homeostatic Model Assessment) and metabolic variables (fasting levels of insulin, glucose, and lipids). | NA | {
"id": 24,
"name": "ABCA4",
"pos": [
46,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
217,
14
]
} |
Carcinoembryonic antigen-related cellular adhesion molecule 6 (CEACAM6) is a member of the immunoglobulin superfamily and has been recently reported to affect the neoplastic, metastatic, and invasive ability of malignant cells by regulating intracellular signaling pathways during tumorigenesis and progression. | NA | {
"id": 4680,
"name": "CEACAM6",
"pos": [
63,
7
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
281,
13
]
} |
The ability of a recombinant adenovirus encoding IGF-IB (Ad.IGF-I) to activate Akt and protect cardiomyocytes from hypoxia-induced apoptosis in vitro was compared with the effects of IGF-I peptide or expression of constitutively active Akt (myr-Akt). | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
183,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
29,
10
]
} |
The vast majority of the BRAF V600E mutations were found in cerebral metastases of malignant melanomas and carcinomas (29/135, 22 %), with false-positive staining found in four breast cancer cases and two non-small-cell lung carcinoma (NSCLC) samples. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
25,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
107,
10
]
} |
These findings indicate that GSTM1 and GSTT1 polymorphisms may play critical roles in the development of cancer, especially in smokers. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
39,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
105,
6
]
} |
Gene-nutrient interactions: dietary behaviour associated with high coronary heart disease risk particularly affects serum LDL cholesterol in apolipoprotein E epsilon4-carrying free-living individuals. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
141,
16
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
67,
22
]
} |
To directly examine the role of PAR-2 in atherosclerosis, we generated apolipoprotein E/PAR-2 double-deficient mice. | biomarker | {
"id": 55065,
"name": "SLC52A1",
"pos": [
32,
5
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
41,
15
]
} |
Increased expression of distinct versican isoforms in the extracellular matrix plays a role in tumor cell growth, adhesion and migration. | NA | {
"id": 1462,
"name": "VCAN",
"pos": [
33,
8
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
114,
8
]
} |
Selective killing of lung cancer cells using carcinoembryonic antigen promoter and double suicide genes, thymidine kinase and cytosine deaminase (pCEA-TK/CD). | NA | {
"id": 1048,
"name": "CEACAM5",
"pos": [
45,
24
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
90,
7
]
} |
circZMYM2 Competed Endogenously with miR-335-5p to Regulate JMJD2C in Pancreatic Cancer. | biomarker | {
"id": 23081,
"name": "KDM4C",
"pos": [
60,
6
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
70,
17
]
} |
As a proof-of-concept, knockdown of miR-125b resulted in the inhibition of tumor cell aggressiveness of CSLCs (triple-marker-positive cells), consistent with the downregulation of CD44, EpCAM, EZH2, and snail. | NA | {
"id": 960,
"name": "CD44",
"pos": [
180,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
86,
14
]
} |
Multiple myeloma (MM) plasma cells, but not those from healthy donors and patients with monoclonal gammopathy of undetermined significance or other plasma cell dyscrasias involving the bone marrow, express the Wnt-signaling antagonist DKK1. | NA | {
"id": 22943,
"name": "DKK1",
"pos": [
235,
4
]
} | {
"id": "C1136084",
"name": "Plasma cell dyscrasia",
"pos": [
148,
22
]
} |
The results suggest PD-1/PD-L1 blockade therapy as a potential therapeutic approach for sRCC.Cancer 2017;123:4823-31.© 2017 American Cancer Society. | biomarker | {
"id": 29126,
"name": "CD274",
"pos": [
25,
5
]
} | {
"id": "C1266043",
"name": "Sarcomatoid Renal Cell Carcinoma",
"pos": [
88,
4
]
} |
These cells express receptor activator of NF- κ B ligand (RANKL) to induce osteoclastogenesis, and T cells, which secrete RANKL, promote osteoclastogenesis during inflammation. | NA | {
"id": 8600,
"name": "TNFSF11",
"pos": [
122,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
163,
12
]
} |
Silencing of PSMC2 was able to inhibit osteosarcoma cell motility, invasion as well as tumorigenicity in nude mice. | biomarker | {
"id": 5701,
"name": "PSMC2",
"pos": [
13,
5
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
39,
12
]
} |
We studied the effects of six of these 3p21.3 genes (101F6, NPRL2, BLU, FUS1, HYAL2, and HYAL1) on tumor cell proliferation and apoptosis in human lung cancer cells by recombinant adenovirus-mediated gene transfer in vitro and in vivo. | NA | {
"id": 8692,
"name": "HYAL2",
"pos": [
79,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
181,
10
]
} |
The DeltaGAG deletion mutation in DYT1, causing a loss of a glutamic acid near the carboxyl terminus of torsinA protein (torsinADeltaE), is dominantly inherited and tends to result in a severe generalized form of dystonia with childhood onset. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
34,
4
]
} | {
"id": "C0013421",
"name": "Dystonia",
"pos": [
213,
8
]
} |
By locus-specific FISH, the translocation disrupted one gene, NAV3 (POMFIL1), a human homologue of unc-53 in Caenorhabditis elegans. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
18,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
28,
13
]
} |
These results support an important role for NOX4 in the vascular remodeling associated with development of pulmonary hypertension. | NA | {
"id": 50507,
"name": "NOX4",
"pos": [
44,
4
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
56,
19
]
} |
This retrospective series includes all of the 1531 cases of invasive and in situ breast cancer (DCIS, ductal carcinoma in situ) that were newly diagnosed in two certified breast care centers in Münster in the period 2006-2012 among women in the MSP target population. | genomic_alterations | {
"id": 4485,
"name": "MST1",
"pos": [
245,
3
]
} | {
"id": "C0154084",
"name": "Stage 0 Breast Carcinoma",
"pos": [
73,
21
]
} |
Patients who carry the T/T homozygote of CYP17 C/T gene polymorphism may have a higher risk of developing oral cancer. | NA | {
"id": 6862,
"name": "TBXT",
"pos": [
49,
6
]
} | {
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
106,
11
]
} |
It has also been demonstrated that the CYP17 A2 allele has bidirectional effects on human reproduction, including increases in susceptibility to recurrent miscarriage and fetal growth enhancement. | NA | {
"id": 1586,
"name": "CYP17A1",
"pos": [
39,
5
]
} | {
"id": "C0000809",
"name": "Abortion, Habitual",
"pos": [
145,
21
]
} |
We found that the Glu298 allele was associated with higher risk of AD in the MIRAGE African American (p = 0.002) but not Caucasian (p = 0.9) groups. | genomic_alterations | {
"id": 54809,
"name": "SAMD9",
"pos": [
77,
6
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
67,
2
]
} |
Five patients had an activating mutation of EGFR in both the primary tumor and the metastasis. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
44,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
69,
5
]
} |
In this study, the FUS/TLS-CHOP chimeric transcripts in seven malignant soft tissue tumors of Asian patients were analyzed by reverse transcription-polymerase chain reaction, DNA blot hybridization and nucleotide sequencing. | genomic_alterations | {
"id": 1649,
"name": "DDIT3",
"pos": [
27,
4
]
} | {
"id": "C4551687",
"name": "Sarcoma of soft tissue",
"pos": [
62,
28
]
} |
The various reports of dramatic and prolonged responses in brain metastases patients treated with EGFR and ALK TKIs suggest that these agents may be a valid treatment option for patients with asymptomatic brain metastases from NSCLC, especially for those with EGFR-activating mutations or harboring ALK rearrangement. | NA | {
"id": 238,
"name": "ALK",
"pos": [
107,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
192,
12
]
} |
The immunohistochemical results showed that Ca(2+) channel subunit α 1D (Cav1.3) expression was high in atypical hyperplasia (1.90 ± 0.35) and endometrial carcinoma tissues (2.05 ± 0.82) but weak (0.80 ± 0.15) in benign endometrial tissues (P < 0.05). | NA | {
"id": 776,
"name": "CACNA1D",
"pos": [
73,
6
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
143,
21
]
} |
Weak associations with GHR genotype were also noted for peripheral systolic and diastolic blood pressure in hypertensive patients. | NA | {
"id": 2690,
"name": "GHR",
"pos": [
23,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
80,
24
]
} |
Our findings suggest that the GATA4 and HAND1 germline mutations are associated with non-syndromic CHD. | genomic_alterations | {
"id": 9421,
"name": "HAND1",
"pos": [
40,
5
]
} | {
"id": "C0010068",
"name": "Coronary heart disease",
"pos": [
99,
3
]
} |
Genetic polymorphism in DPYD seems to be associated with DFS in CRC patients receiving an adjuvant regimen of 5-FU/capecitabine-based chemotherapy. | genomic_alterations | {
"id": 1806,
"name": "DPYD",
"pos": [
24,
4
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
64,
3
]
} |
Molecular analysis of the von Hippel-Lindau disease tumor suppressor gene in human lung cancer cell lines. | genomic_alterations | {
"id": 7428,
"name": "VHL",
"pos": [
26,
42
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
83,
11
]
} |
Detailed biochemical and enzymatic analyses revealed a moderate deficiency of uroporphyrinogen decarboxylase in both the proband's parents and in his three children, all of whom were asymptomatic. | NA | {
"id": 7389,
"name": "UROD",
"pos": [
78,
30
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
183,
12
]
} |
Our top associated genes included those related to neurodevelopment or neural signaling (brain-derived neurotrophic factor (BDNF), neutral sphingomyelinase 2 (SMPD2), homeobox b2 (HOXB2), neural cell adhesion molecule (NCAM2), heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0)), inflammation (free fatty acid receptor 2 (FFAR2)) and inflammation with additional evidence of neuronal involvement (oxidized low density lipoprotein receptor 1 (OLR1), toll-like receptor 3 (TLR3)). | NA | {
"id": 4685,
"name": "NCAM2",
"pos": [
219,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
336,
12
]
} |
These findings support the hypothesized moderating role of the COMT gene in the aggressive behaviour in some schizophrenic patients, though they do not support the existence of a direct association between the COMT Val158Met polymorphism and aggressive schizophrenia case status in the Korean population. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
210,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
80,
20
]
} |
TRPA1 and TRPV1 expressions were investigated in human colon biopsies of healthy subjects and patients with inflammatory bowel diseases (IBD: ulcerative colitis, Crohn's disease) with quantitative PCR and immunohistochemistry. | genomic_alterations | {
"id": 27034,
"name": "ACAD8",
"pos": [
137,
3
]
} | {
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
108,
27
]
} |
The maternal immune response to fetal platelet GPIbα causes frequent miscarriage in mice that can be prevented by intravenous IgG and anti-FcRn therapies. | NA | {
"id": 2217,
"name": "FCGRT",
"pos": [
139,
4
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
69,
11
]
} |
The CR3-mediated signaling pathway involved in this immune suppression includes Lyn kinase and Akt activation, and increased MKP-1, which limits TLR2-mediated pro-inflammatory responses. | biomarker | {
"id": 1843,
"name": "DUSP1",
"pos": [
125,
5
]
} | {
"id": "C1840264",
"name": "IMMUNE SUPPRESSION",
"pos": [
52,
18
]
} |
In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site mutation in COX8A, which codes for the ubiquitously expressed isoform of subunit VIII, the smallest nuclear-encoded subunit of complex IV. | NA | {
"id": 1351,
"name": "COX8A",
"pos": [
210,
4
]
} | {
"id": "C0023520",
"name": "Leukodystrophy",
"pos": [
54,
14
]
} |
This replication study used a much larger patient cohort to examine the association of IRF1 in JIA. | biomarker | {
"id": 3659,
"name": "IRF1",
"pos": [
87,
4
]
} | {
"id": "C3495559",
"name": "Juvenile arthritis",
"pos": [
95,
3
]
} |
The percentage of p53 staining in MDS (71%) was higher than that of mutated p53 (11%) but did not reach 100% of MDS cases studied, therefore the authors attempted to differentiate MDS, especially refractory anemia (RA) and AA, using a combination of p53 immunostaining, hemoglobin F (HbF) immunostaining and chromosome abnormality, because HbF of erythroblasts was reportedly observed in MDS RA but not in AA. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
250,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
308,
22
]
} |
Associations between two common polymorphisms in the ABCA1 gene and subclinical atherosclerosis: Multi-Ethnic Study of Atherosclerosis (MESA). | genomic_alterations | {
"id": 19,
"name": "ABCA1",
"pos": [
53,
5
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
80,
15
]
} |
IER3 is a crucial mediator of TAp73β-induced apoptosis in cervical cancer and confers etoposide sensitivity. | biomarker | {
"id": 8870,
"name": "IER3",
"pos": [
0,
4
]
} | {
"id": "C0007847",
"name": "Malignant tumor of cervix",
"pos": [
58,
15
]
} |
Activation of this pathway occurs in solid tumors, including ovarian epithelial tumors, through mutation of the PI3K subunit genes or inactivation of the tumor suppressor, PTEN. | genomic_alterations | {
"id": 5294,
"name": "PIK3CG",
"pos": [
112,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
154,
5
]
} |
Glut1-DS is caused by heterozygous abnormalities of the SLC2A1 (Glut1) gene, whose product acts to transport glucose into the brain across the blood-brain barrier. | NA | {
"id": 6513,
"name": "SLC2A1",
"pos": [
64,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
35,
13
]
} |
An identical novel mutation in BRCA1 and a common haplotype in familial ovarian cancer in non-Ashkenazi Jews. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
31,
5
]
} | {
"id": "C1611743",
"name": "Familial (FPAH)",
"pos": [
63,
8
]
} |
Depending upon the severity and duration of hypoxic/ischemic insult, the release of endogenous opioids and DOR expression are regulated in response to the stress, and DOR signaling acts at multiple levels to confer neuronal tolerance to harmful insult. | NA | {
"id": 58476,
"name": "TP53INP2",
"pos": [
107,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
44,
7
]
} |
Transgenic mouse strains overexpressing the oncogenes transforming growth factor-alpha, neu, int-3, polyoma virus middle T antigen, and simian virus 40 large T antigen have been previously shown to develop spontaneous mammary neoplasia. | biomarker | {
"id": 65123,
"name": "INTS3",
"pos": [
93,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
226,
9
]
} |
Migraine has been associated with increased risk of cardiovascular disease and asthma in which beta2-adrenoceptors play an important role; beta-adrenoceptor antagonists are used in migraine prevention. | NA | {
"id": 4760,
"name": "NEUROD1",
"pos": [
95,
5
]
} | {
"id": "C0149931",
"name": "Migraine Disorders",
"pos": [
181,
8
]
} |
Based on outcome for specific cytogenetic abnormalities and karyotype complexity, patients were divided into 3 risk groups: favorable (CR 88%, CIR 54%, OS 55%), intermediate (CR 67%, CIR 67%, OS 24%), and adverse (CR 32%, CIR 92%, OS 5%). | NA | {
"id": 9541,
"name": "CIR1",
"pos": [
222,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
30,
25
]
} |
Collectively, these results suggest that LAB has beneficial effects on the diabetic nephropathy in OLETF rats by decreasing blood pressure, oxidative stress, and MCP-1 expression. | NA | {
"id": 7462,
"name": "LAT2",
"pos": [
41,
3
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
75,
20
]
} |
In GC, mRNA expression of Mst1, Lats1, Oct4, YAP1, TAZ, TEAD1 and CDX2 had a close correlation with lymphatic metastasis and tumor TNM stage (all P<0.01). | NA | {
"id": 6901,
"name": "TAZ",
"pos": [
51,
3
]
} | {
"id": "C0024232",
"name": "Lymphatic Metastasis",
"pos": [
100,
20
]
} |
Here, we investigated the effect on breast cancer survival of germline variation in these genes in 925 Finnish breast cancer patients and further analyzed five single nucleotide polymorphisms (SNPs) in PRKAG2 (rs1029946, rs4726050, rs6464153, rs7789699) and PPP2R2B (rs10477313) for 10-year survival in breast cancer patients, interaction with TP53 R72P and MDM2-SNP309, outcome after specific adjuvant therapy and correlation to tumor characteristics in 4,701 invasive cases from four data sets. | NA | {
"id": 5521,
"name": "PPP2R2B",
"pos": [
258,
7
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
430,
5
]
} |
We have found that, at the somatic level, the BRCAX-B tumors are identical to their sporadic Luminal B counterparts, whereas BRCAX-A, despite having a Luminal A phenotype, shows additional genomic alterations. | NA | {
"id": 60500,
"name": "BRCA3",
"pos": [
125,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
84,
8
]
} |
These observations suggest that ZO-1 is overexpressed in PDAC and raise the possibility that this overexpression may confer a metastatic advantage to pancreatic cancer cells. | NA | {
"id": 7082,
"name": "TJP1",
"pos": [
32,
4
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
150,
17
]
} |
To investigate whether antigenic SG proteins are capable of enhancing infection with Zika virus (ZIKV), a reemerging flavivirus primarily transmitted by the <i>Aedes aegypti</i> mosquito, we screened for antigenic SG proteins using a yeast display library and demonstrate that a previously undescribed SG protein we term neutrophil stimulating factor 1 (NeSt1) activates primary mouse neutrophils <i>ex vivo</i> Passive immunization against NeSt1 decreases pro-interleukin-1β and CXCL2 expression, prevents macrophages from infiltrating the bite site, protects susceptible IFNAR<sup>-/-</sup> IFNGR<sup>-/-</sup> (AG129) mice from early ZIKV replication, and ameliorates virus-induced pathogenesis. | biomarker | {
"id": 2920,
"name": "CXCL2",
"pos": [
504,
5
]
} | {
"id": "C0276289",
"name": "Zika Virus Infection",
"pos": [
85,
4
]
} |
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. | genomic_alterations | {
"id": 1436,
"name": "CSF1R",
"pos": [
11,
5
]
} | {
"id": "C0266449",
"name": "Congenital anomaly of brain",
"pos": [
132,
18
]
} |
Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome. | genomic_alterations | {
"id": 3590,
"name": "IL11RA",
"pos": [
92,
6
]
} | {
"id": "C0010278",
"name": "Craniosynostosis",
"pos": [
30,
16
]
} |
Our study pointed out the utmost relevance of CDKN2A homozygous deletion as an adverse prognostic factor in the 2 broad categories of IDH-mutant gliomas stratified on 1p/19q codeletion and suggests that the grading of these tumors should be refined. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
46,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
224,
6
]
} |
Anomalies of these proteins, including three principal antioxidant enzymes (copper/zinc-superoxide dismutase, peroxiredoxin 3, and thioredoxin-like 1 protein), S100 calcium binding protein, galectin-1, chorionic somatomammotropin hormone 1, transthyretin, fas inhibitory molecule, eukaryotic translation elongation factor, RNA-binding protein, ubiquitin-conjugating enzyme E2N, and proteasome beta-subunit, indicate widespread failure in cell regulations and processes such as antioxidative defense, differentiation, cell proliferation, metabolism, apoptosis, transcription, and proteolysis in early pregnancy loss. | NA | {
"id": 7334,
"name": "UBE2N",
"pos": [
344,
32
]
} | {
"id": "C3830362",
"name": "Early Pregnancy Loss",
"pos": [
594,
20
]
} |
The immunohistochemical analysis disclosed neural differentiation of the neoplastic cells with strong synaptophysin and neurofilament staining consistent with extraventricular neurocytoma, as well as strong S-100 and glial fibrillary acidic protein (GFAP) expression. | biomarker | {
"id": 6855,
"name": "SYP",
"pos": [
102,
13
]
} | {
"id": "C2985175",
"name": "Extraventricular neurocytoma",
"pos": [
159,
28
]
} |
Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
238,
3
]
} | {
"id": "C0266449",
"name": "Congenital anomaly of brain",
"pos": [
172,
18
]
} |
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission. | genomic_alterations | {
"id": 3784,
"name": "KCNQ1",
"pos": [
49,
5
]
} | {
"id": "C0004903",
"name": "Beckwith-Wiedemann Syndrome",
"pos": [
101,
27
]
} |
Luciferase reporter assays were performed by overexpressing wild type and mutated SHANK2-3'UTR and miR-137 in human neuroblastoma cells and mouse primary hippocampal neurons. miR-137 was also overexpressed or inhibited in hippocampal neurons, and Shank2 expression was analyzed by quantitative real-time PCR and Western blot. | biomarker | {
"id": 406928,
"name": "MIR137",
"pos": [
99,
7
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
116,
13
]
} |
Effects of manganase superoxide dismutase Ala-9Val polymorphism on prostate cancer: a case-control study. | therapeutic | {
"id": 6648,
"name": "SOD2",
"pos": [
21,
22
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
67,
15
]
} |
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. | NA | {
"id": 79848,
"name": "CSPP1",
"pos": [
13,
5
]
} | {
"id": "C0729233",
"name": "Dissecting aneurysm of the thoracic aorta",
"pos": [
109,
8
]
} |
Infusion of a mixture of TIL 888 and TIL 1290 cell lines into the patient resulted in complete regression of a residual abdominal mass and the patient remains disease-free 2 yr later. | NA | {
"id": 7096,
"name": "TLR1",
"pos": [
37,
3
]
} | {
"id": "C0000734",
"name": "Abdominal mass",
"pos": [
120,
14
]
} |
The improved cytotoxicity observed was dependent on target surface expression of adhesion molecules, particularly CD54. | NA | {
"id": 3383,
"name": "ICAM1",
"pos": [
114,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
81,
8
]
} |
Thus, we demonstrate, for the first time, that Csk suppression is an important early event in colorectal cancer pathogenesis. | biomarker | {
"id": 1445,
"name": "CSK",
"pos": [
47,
3
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
94,
17
]
} |
CHFR hypermethylation was found in 29 cases (14%) (16 ADC (8%), 12 SCC (6%) and one adenosquamous carcinoma), while EGFR mutation was detected in 48 (23%) cases, all of which were ADC. | NA | {
"id": 55743,
"name": "CHFR",
"pos": [
0,
4
]
} | {
"id": "C0206623",
"name": "Adenosquamous carcinoma",
"pos": [
84,
23
]
} |
CRH mRNA was also induced in the amygdala, 60 min following ischemia, in a pattern which was qualitatively different from that of sham operated animals. | NA | {
"id": 1392,
"name": "CRH",
"pos": [
0,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
60,
8
]
} |
The authors report a 29-year-old woman with marked atrophy of the cerebellum, medulla oblongata, and spinal cord, dementia, diffuse white matter abnormality on MRI, ragged-red fibers, and R88C mutation in the human glial fibrillary acidic protein (GFAP). | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
160,
3
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
51,
7
]
} |
Previous studies have shown that the functional IL-17A G-197A and IL-17F 7488T/C polymorphisms may contribute to susceptibility to cancer but the results were inconclusive. | genomic_alterations | {
"id": 112744,
"name": "IL17F",
"pos": [
66,
6
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
131,
6
]
} |
The VEGF mRNA level was low in nonepithelial stromal tissue (0.8 dpm/mm2), high in normal and benign hyperplastic epithelium (17-18 dpm/mm2), and significantly decreased in intraepithelial neoplasia (6.4 dpm/mm2) and in microacinar carcinoma that had invaded the stroma (3.5 dpm/mm2). | NA | {
"id": 10687,
"name": "PNMA2",
"pos": [
279,
3
]
} | {
"id": "C0878500",
"name": "Intraepithelial Neoplasia",
"pos": [
173,
25
]
} |
In the present study, we aimed to investigate the interaction between the miR-126-3p and PLXNB2 in the progression of ovarian cancer. | biomarker | {
"id": 23654,
"name": "PLXNB2",
"pos": [
89,
6
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
118,
14
]
} |
The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. | NA | {
"id": 5071,
"name": "PRKN",
"pos": [
4,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
124,
8
]
} |
We evaluated arginine vasopressin (AVP), glucocorticoid receptor (GR), and corticotropin-releasing hormone (CRH) expression with immunohistochemistry (IHC), immunofluorescence, real-time PCR, and Western blot analysis in each treatment group 7 weeks post ADX to assess HPA axis regulatory patterns in connection with type 2 diabetes. | NA | {
"id": 1392,
"name": "CRH",
"pos": [
108,
3
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
317,
15
]
} |
Further studies suggested that destruction of transduced hepatocytes by cell-mediated immunity targeting antigens of the AAV capsid caused both the decline in F.IX and the transient transaminitis. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
121,
3
]
} | {
"id": "C2242708",
"name": "Hypertransaminasaemia",
"pos": [
182,
13
]
} |
Our group has recently reported that triple negative breast cancer (TNBC) metastasis is dependent on both MDM2 and MDMX, and depleting MDM2 results in increased MDMX, but depleting MDMX does not cause an increase in MDM2. | biomarker | {
"id": 4194,
"name": "MDM4",
"pos": [
115,
4
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
74,
10
]
} |
Furthermore, we showed the relevance of the enzymatic active site of MIF for the proliferation of glioblastoma cells by using the MIF-tautomerase inhibitor ISO-1. | biomarker | {
"id": 4282,
"name": "MIF",
"pos": [
69,
3
]
} | {
"id": "C0278878",
"name": "Adult Glioblastoma",
"pos": [
98,
12
]
} |
Our results suggested that ST3Gal III and ST6Gal I were of importance for the lymph node metastases in FIGO IB1 cervical cancer patients; more specifically, overexpression of ST6Gal I was of crucial relevance for the presence of poor prognostic factors, such as deep stromal invasion and lymph-vascular space involvement and lymph node metastases. | NA | {
"id": 9479,
"name": "MAPK8IP1",
"pos": [
108,
3
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
325,
21
]
} |
Novel oncogenes identified within the 11q13 amplicon including FGF19 and SHANK2 may play important roles in ESCC tumorigenesis. | NA | {
"id": 22941,
"name": "SHANK2",
"pos": [
73,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
113,
13
]
} |
However, a G/T polymorphism predicting an Lys/Asn change (ET1/C198) strongly interacted (P<0.001) with body mass index in the determination of blood pressure levels. | NA | {
"id": 1906,
"name": "EDN1",
"pos": [
58,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
103,
15
]
} |
Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. | therapeutic | {
"id": 43,
"name": "ACHE",
"pos": [
82,
20
]
} | {
"id": "C0751110",
"name": "Single Seizure",
"pos": [
20,
8
]
} |
Subsets and Splits