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|---|---|---|---|
Interestingly, rosiglitazone treatment improved insulin sensitivity and reduced FTO expression in muscle from type 2 diabetic patients. | NA | {
"id": 79068,
"name": "FTO",
"pos": [
80,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
48,
19
]
} |
The aim of this study was to test the hypothesis that DNA methylation is important for silencing the p16 tumor suppressor gene in ovarian epithelial tumors and to compare the prevalence of this mechanism among different ovarian epithelial tumor subtypes. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
101,
3
]
} | {
"id": "C0341823",
"name": "Epithelial tumor of ovary",
"pos": [
220,
24
]
} |
Desmoplastic small round cell tumor (DSRCT) is a recently described aggressive malignancy associated with a unique chromosomal translocation t(11;22)(p13;q12). | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
150,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
79,
10
]
} |
Immunotherapy, particularly the adoptive cell transfer (ACT) of tumor-infiltrating lymphocytes (TIL), is a very promising therapy for metastatic melanoma. | NA | {
"id": 11332,
"name": "ACOT7",
"pos": [
56,
3
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
134,
19
]
} |
270 unrelated probands with various forms of retinal degeneration including autosomal dominant and autosomal recessive retinitis pigmentosa (RP), autosomal dominant and autosomal recessive cone-rod dystrophy (CRD), and Leber's congenital amaurosis (LCA), were screened for mutations in the SP4 gene. | NA | {
"id": 6671,
"name": "SP4",
"pos": [
290,
8
]
} | {
"id": "C0035334",
"name": "Retinitis Pigmentosa",
"pos": [
119,
20
]
} |
Sodium iodide symporter (NIS)-mediated radiovirotherapy of hepatocellular cancer using a conditionally replicating adenovirus. | NA | {
"id": 6528,
"name": "SLC5A5",
"pos": [
25,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
115,
10
]
} |
cDNA microarray analysis of lung tissue from mice subjected to hypoxia or HPC identified a cluster of NF-kappaB-regulated genes whose expression is attenuated by HPC. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
102,
9
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
63,
7
]
} |
Myocardin-related transcription factor A is up-regulated by 17β-estradiol and promotes migration of MCF-7 breast cancer cells via transactivation of MYL9 and CYR61. | NA | {
"id": 10398,
"name": "MYL9",
"pos": [
149,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
106,
13
]
} |
While a TPMT genotyping test may be helpful to determine a safe starting dose, it may not completely prevent myelosuppression. | NA | {
"id": 7172,
"name": "TPMT",
"pos": [
8,
4
]
} | {
"id": "C0854467",
"name": "Myelosuppression",
"pos": [
109,
16
]
} |
We hypothesized that alternative mechanisms of PTEN allelic inactivation, such as promoter hypermethylation, might be operative in CRC and that PTEN inactivation may be related to recognized forms of genomic instability. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
144,
4
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
200,
19
]
} |
DNA obtained from the frozen tissue of 27 samples of glioblastomas and three other gliomas, were analyzed for MGMT promoter methylation using a nested MSP assay. | NA | {
"id": 89782,
"name": "LMLN",
"pos": [
151,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
83,
7
]
} |
Expression of key proteins in the MEK/ERK pathway, including p-p52Shc, Shc·Grb2 complexes, p-MEK, p-ERK, and cyclin D1, was significantly higher in patients with advanced FIGO stage, high grade, and lymph-node metastasis and correlated positively with serum insulin concentration. | biomarker | {
"id": 2885,
"name": "GRB2",
"pos": [
75,
4
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
199,
21
]
} |
The association between breast cancer risk and genetic variants of fibroblast growth factor receptor 2 (FGFR2) has been identified and repeatedly confirmed; however, the mechanism underlying FGFR2 in breast tumorigenesis remains obscure. | NA | {
"id": 2263,
"name": "FGFR2",
"pos": [
191,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
207,
13
]
} |
In particular, our lab recently identified a T104M mutation in IL-20 receptor-B (IL-20RB) in primary open angle glaucoma patients from a large pedigree. | genomic_alterations | {
"id": 50604,
"name": "IL20",
"pos": [
63,
5
]
} | {
"id": "C0339573",
"name": "Glaucoma, Primary Open Angle",
"pos": [
93,
27
]
} |
Estrogen receptor (ER)-negative breast cancer cells display extensive methylation of the ER gene CpG island and elevated DNA methyltransferase (DMT) expression compared to ER-positive cells. | NA | {
"id": 2039,
"name": "DMTN",
"pos": [
144,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
32,
13
]
} |
Members of the caspase family can be important for apoptosis or inflammation, but the role of caspase-12 (CASP12 or CSP12) is unclear. | NA | {
"id": 100506742,
"name": "CASP12",
"pos": [
106,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
64,
12
]
} |
To evaluate: (1) whether the EC system is activated in the livers of patients with primary biliary cirrhosis (PBC); (2) if genetic variations in human EC receptor genes (CB1 and CB2) may be associated with a different phenotypic expression of the disease and response to therapy. | NA | {
"id": 1269,
"name": "CNR2",
"pos": [
178,
3
]
} | {
"id": "C0008312",
"name": "Primary biliary cirrhosis",
"pos": [
83,
25
]
} |
We found that the VEGF rs2010963 CG + GG genotypes had a significantly increased risk of hand-foot syndrome, and the ABCB1 rs1045642 CT + TT genotypes had an increased risk of high blood pressure. | genomic_alterations | {
"id": 7422,
"name": "VEGFA",
"pos": [
18,
4
]
} | {
"id": "C0852711",
"name": "Sickle Cell Dactylitis",
"pos": [
89,
18
]
} |
We show that during a severe influenza virus infection, one type of immune cell, the CD8 T cell, is less abundant and less functional than in a more mild infection. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
85,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
39,
15
]
} |
We present here the results of the world's largest experience of over 395 PGD cycles for hemoglobin (Hb) disorders, resulting in the birth of 98 healthy, hemoglobinopathy-free children, with seven pregnancies still ongoing. | NA | {
"id": 5226,
"name": "PGD",
"pos": [
74,
3
]
} | {
"id": "C0019045",
"name": "Hemoglobinopathies",
"pos": [
154,
16
]
} |
Characterization of a novel somatic KCNJ5 mutation delI157 in an aldosterone-producing adenoma. | genomic_alterations | {
"id": 3762,
"name": "KCNJ5",
"pos": [
36,
5
]
} | {
"id": "C0009777",
"name": "Conn Adenoma",
"pos": [
65,
29
]
} |
In conclusion, our results indicate that bcl-2, c-erbB-2, p53, and p21 ras protein are differently expressed in thyroid carcinomas in relation to the degree of aggressiveness and differentiation. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
41,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
160,
14
]
} |
Recombinant proteins from two genes identified in this manner, Sui1 and RalA were expressed, purified and used as antigens in immunoassays to detect the presence of antibodies in sera from 77 patients with HCC, 30 with chronic hepatitis (CH), 30 with liver cirrhosis (LC) and 82 normal human sera (NHS). | NA | {
"id": 5898,
"name": "RALA",
"pos": [
72,
4
]
} | {
"id": "C0023890",
"name": "Liver Cirrhosis",
"pos": [
251,
15
]
} |
To investigate whether CAG repeat expansion or mutations in the DNA polymerase gamma (POLG) gene could predispose to peripheral neuropathy or lactic acidosis, we have sequenced part of the second exon of the DNA polymerase gamma gene, containing the CAG repeat, of 59 drug-treated HIV-infected patients, 11 of whom experienced drug-induced neuropathy, and 3 of whom died from lactic acidosis. | genomic_alterations | {
"id": 5428,
"name": "POLG",
"pos": [
86,
4
]
} | {
"id": "C4721453",
"name": "Peripheral Nervous System Diseases",
"pos": [
117,
21
]
} |
The p53-mutated status of FaDu human pharynx carcinoma cell line was first assessed by DNA sequencing and the cells were transfected using tetraglucosylated polyethylenimine (PEI-Glu4) in conjunction with photochemical internalisation (PCI). | NA | {
"id": 7157,
"name": "TP53",
"pos": [
4,
3
]
} | {
"id": "C0747548",
"name": "Pharyngeal Carcinoma",
"pos": [
37,
17
]
} |
Thus, these results suggest that in Alzheimer disease and aging, apolipoprotein D gene expression is increased in stressed cortical neurons before they possibly accumulate neurofibrillary tangles. | NA | {
"id": 347,
"name": "APOD",
"pos": [
65,
16
]
} | {
"id": "C0085400",
"name": "Neurofibrillary degeneration (morphologic abnormality)",
"pos": [
172,
23
]
} |
Local concentrations of neutralizing IL-18 binding proteins (IL-18 bp) may counteract biological functions of mature IL-18 in mucosal inflammation. | NA | {
"id": 3606,
"name": "IL18",
"pos": [
117,
5
]
} | {
"id": "C0333355",
"name": "Inflammatory disease of mucous membrane",
"pos": [
126,
20
]
} |
Thus, we hypothesised that a vaccine targeting HA-1 and AML/ETO could stimulate NK cells to target leukaemia cells. | NA | {
"id": 23526,
"name": "ARHGAP45",
"pos": [
47,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
99,
9
]
} |
Ten OBPs (MmedOBP11-20) and two CSPs (MmedCSP2-3) were newly identified. | genomic_alterations | {
"id": 3835,
"name": "KIF22",
"pos": [
10,
12
]
} | {
"id": "C0010701",
"name": "Phyllodes Tumor",
"pos": [
38,
10
]
} |
Besides numerous established ischemia-induced gene products such as macrophage inflammatory protein-1 alpha (MIP-1 alpha), orphan nuclear receptor Nurr 77, secretogranin II (SCG-II), and tumor necrosis factor-alpha (TNF-alpha), several genes were identified which have not previously been shown to be modulated following focal ischemia; these genes include interferon-induced protein (IFN-IP), neurodegeneration-associated protein-1 (NDGAP-1), and neuronal pentraxin receptor (NPR). | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
385,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
394,
17
]
} |
We found a novel missense mutation in exon 1 of the EDA1 gene in a putative Mayan family from México with XL-HED. | genomic_alterations | {
"id": 1896,
"name": "EDA",
"pos": [
52,
4
]
} | {
"id": "C3888065",
"name": "ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",
"pos": [
109,
3
]
} |
In this perspective, we have discussed the role of HDAC2 posttranslational modifications and its role in regulation of inflammation, histone/DNA epigenetic modifications, DNA damage response, and cellular senescence, particularly in inflammaging, and during the development of COPD. | NA | {
"id": 3066,
"name": "HDAC2",
"pos": [
51,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
119,
12
]
} |
In this study, we focused on the retinoblastoma-related protein p130 in AD. p130 is a transcriptional regulator that complexes with E2F4/5 in the nucleus and suppresses genes that regulate entry into the cell cycle. | biomarker | {
"id": 22930,
"name": "RAB3GAP1",
"pos": [
64,
4
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
33,
14
]
} |
Here, we report that five missense heterozygote mutations of the DACT1 gene are specifically identified in 167 stillborn or miscarried Han Chinese fetuses with neural tube defects. | NA | {
"id": 51339,
"name": "DACT1",
"pos": [
65,
10
]
} | {
"id": "C0595939",
"name": "Stillbirth",
"pos": [
111,
9
]
} |
For example, PKA (protein kinase A) and AKT/mTOR (protein kinase B/mammalian target of rapamycin) pathway derangement accurately discriminates patients with NASH from those with the non-progressive forms of NAFLD. | biomarker | {
"id": 2475,
"name": "MTOR",
"pos": [
67,
29
]
} | {
"id": "C0400966",
"name": "Non-alcoholic Fatty Liver Disease",
"pos": [
207,
5
]
} |
Role of cyclophilin B in tumorigenesis and cisplatin resistance in hepatocellular carcinoma in humans. | NA | {
"id": 5479,
"name": "PPIB",
"pos": [
8,
13
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
25,
13
]
} |
Since there seems to be a link in humans between persistent arthritic manifestations post-antibiotic treatment and the HLA-DR4 allele, we generated DR4+/+CD28(-/-)MHCII(-/-) mice, infected them with Borrelia burgdorferi, and subsequently treated them with antibiotics. | biomarker | {
"id": 940,
"name": "CD28",
"pos": [
154,
4
]
} | {
"id": "C0024198",
"name": "Lyme Disease",
"pos": [
199,
8
]
} |
CSF DLL1, VDBP and fetuin exhibited fair diagnostic performance for TBM diagnosis. | biomarker | {
"id": 28514,
"name": "DLL1",
"pos": [
4,
4
]
} | {
"id": "C0041318",
"name": "Tuberculosis, Meningeal",
"pos": [
68,
3
]
} |
Our results demonstrate that a low MITF/AXL ratio predicts early resistance to multiple targeted drugs, and warrant clinical validation of AXL inhibitors to combat resistance of BRAF and NRAS mutant MITF-low melanomas. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
187,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
208,
9
]
} |
Our results concord with the already shown link between fibrinogen concentration and FIC, and support the hypothesis of a relationship between fibrinogen and endothelium in FIC homeostasis whose alteration may induce several metabolic disorders. | NA | {
"id": 6354,
"name": "CCL7",
"pos": [
173,
3
]
} | {
"id": "C0025517",
"name": "Metabolic Diseases",
"pos": [
225,
19
]
} |
Significant prognostic factors in all CD56+ lymphomas were the site (P = 0.0256), EBV status (P = 0.0026), necrosis with or without perforation (P = 0.0338) and the presence of pleomorphic large tumour cells (P = 0.0428). | NA | {
"id": 4684,
"name": "NCAM1",
"pos": [
38,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
107,
8
]
} |
Expression levels of genes regulating early endosomes (rab5) and late endosomes (rab7) are selectively upregulated in homogeneous populations of CA1 neurons from individuals with mild cognitive impairment and AD. | NA | {
"id": 759,
"name": "CA1",
"pos": [
145,
3
]
} | {
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
179,
25
]
} |
Lysophosphatidic acid (LPA) acts through high-affinity G protein-coupled receptors to mediate a plethora of physiological and pathological activities associated with tumorigenesis. | NA | {
"id": 4018,
"name": "LPA",
"pos": [
23,
3
]
} | {
"id": "C0232370",
"name": "Florid red complexion (finding)",
"pos": [
96,
8
]
} |
Taq 1B polymorphism of cholesterol ester transfer protein (CETP) gene contributes to the development of atherosclerosis, whereas haplotypes of APOA5, APOC3, APOC4, and APOC5 genes are in the same cluster and are independently associated with high plasma triglyceride level, CAD and T2DM. | genomic_alterations | {
"id": 1071,
"name": "CETP",
"pos": [
59,
4
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
274,
3
]
} |
We aimed to discover single nucleotide polymorphisms (SNPs) associated with longitudinal changes in plasma NFL levels that affect the risk of developing neurodegenerative disease and clinical disease progression. | genomic_alterations | {
"id": 4747,
"name": "NEFL",
"pos": [
107,
3
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
153,
25
]
} |
At 12 h, when no blisters were seen, uPA mRNA was present in basal keratinocytes in five of eight samples, whereas interstitial collagenase and stromelysin-1 mRNA were not detected. | NA | {
"id": 4312,
"name": "MMP1",
"pos": [
115,
24
]
} | {
"id": "C0005758",
"name": "Bulla",
"pos": [
17,
8
]
} |
Among the five NF-kappaB subunits, RelA and p50 are responsible for the detrimental effect in cerebral ischemia. | biomarker | {
"id": 958,
"name": "CD40",
"pos": [
44,
3
]
} | {
"id": "C0007785",
"name": "Cerebral Infarction",
"pos": [
94,
17
]
} |
Relationship between reduced nicotinamide adenine dinucleotide phosphate oxidase subunit p22phox gene polymorphism and obstructive sleep apnea-hypopnea syndrome in the Chinese Han population. | genomic_alterations | {
"id": 53905,
"name": "DUOX1",
"pos": [
29,
51
]
} | {
"id": "C4285910",
"name": "Obstructive sleep apnea hypopnea syndrome",
"pos": [
119,
41
]
} |
We report the first patient with primary coenzyme Q deficiency due to a homozygous COQ7 mutation and a potentially beneficial treatment using 2,4DHB. | genomic_alterations | {
"id": 10229,
"name": "COQ7",
"pos": [
83,
4
]
} | {
"id": "C1843920",
"name": "COENZYME Q10 DEFICIENCY",
"pos": [
41,
21
]
} |
These metabolites provide a profile of exposure and in some cases lung cancer risk, but they do not yield information on the critical DNA damage parameter that leads to mutations in cancer growth control genes such as KRAS and TP53. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
218,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
182,
6
]
} |
We used this method for examination of polymorphisms of catalase exon 9 in microcytic anemia and beta-thalassemia patients. | genomic_alterations | {
"id": 847,
"name": "CAT",
"pos": [
56,
8
]
} | {
"id": "C0085576",
"name": "Iron-Refractory Iron Deficiency Anemia",
"pos": [
75,
17
]
} |
Loss-of-function mutations in human endosomal Na<sup>+</sup>(K<sup>+</sup>)/H<sup>+</sup> exchangers (NHEs) NHE6 and NHE9 are implicated in neurological disorders including Christianson syndrome, autism, and attention deficit and hyperactivity disorder. | biomarker | {
"id": 10479,
"name": "SLC9A6",
"pos": [
144,
4
]
} | {
"id": "C0041671",
"name": "Attention Deficit Disorder",
"pos": [
244,
17
]
} |
Six patients with vernal keratoconjunctivitis (VKC), 7 patients with season allergic conjunctivitis (SAC), and 8 healthy controls (4 children and 4 adults) were enrolled in this study. | NA | {
"id": 55811,
"name": "ADCY10",
"pos": [
101,
3
]
} | {
"id": "C0009766",
"name": "Allergic Conjunctivitis",
"pos": [
76,
23
]
} |
There have been few studies concerning OPG level and its relationship with insulin resistance and body composition in young people. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
39,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
75,
18
]
} |
Thus, the quantity of MCP expressed parallels the STABC message level, which is up-regulated in T and myeloid leukaemia cell lines. | NA | {
"id": 822,
"name": "CAPG",
"pos": [
22,
3
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
102,
17
]
} |
In the context of the inbred D2 mouse strain, the glaucoma phenotype is clearly influenced by more genes than just Gpnmb and Tyrp1. | NA | {
"id": 10457,
"name": "GPNMB",
"pos": [
115,
5
]
} | {
"id": "C0017601",
"name": "Glaucoma",
"pos": [
50,
8
]
} |
This stage-dependent expression pattern suggests that CRTC1 may play a role during embryonic SMG branching morphogenesis but not for pro-acinar/acinar differentiation, supporting a precursor cell origin for MEC tumorigenesis. | NA | {
"id": 23373,
"name": "CRTC1",
"pos": [
54,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
211,
13
]
} |
Moreover, our animal experiments also demonstrate that PLZF is capable of inhibiting prostate tumorigenesis in vivo. | NA | {
"id": 7704,
"name": "ZBTB16",
"pos": [
55,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
94,
13
]
} |
In this study, we investigated CD99 immunoreactivity using immunohistochemistry and Ewing's sarcoma / Friend leukaemia virus integration 1 (EWS/FLI1) translocation using the fluorescence in situ hybridization (FISH) method in 23 cases. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
210,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
150,
13
]
} |
The additive effect of smoking and the NQO1 C-T/C-T diplotype was more apparent in squamous cell carcinoma, although this effect was statistically significant in all lung cancer cell types (all cell types, P trend < 0.05). | NA | {
"id": 1728,
"name": "NQO1",
"pos": [
39,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
23,
7
]
} |
In males treated with DMBA and/or TPA, skin tumors, including both squamous cell papillomas (SCP) and carcinomas (SCC), were preferentially induced at the DMBA-TPA painting sites: DMBA-TPA, 15/15 (100%); DMBA, 6/8 (75%); TPA, 1/6 (16.7%). | NA | {
"id": 55974,
"name": "SLC50A1",
"pos": [
93,
3
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
102,
10
]
} |
Conclusively, although low OLFM4 expression is not an independent prognostic biomarker, it might indicate worse prognosis for smoking patients with NSCLC, thereby identifying patients who might benefit from targeting OLFM4 therapy. | NA | {
"id": 10562,
"name": "OLFM4",
"pos": [
217,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
126,
7
]
} |
Integrated hemodynamic, hormonal, and renal actions of urocortin 2 in normal and paced sheep: beneficial effects in heart failure. | therapeutic | {
"id": 90226,
"name": "UCN2",
"pos": [
53,
11
]
} | {
"id": "C0023212",
"name": "Left-Sided Heart Failure",
"pos": [
116,
13
]
} |
RUNX1 Regulates Migration, Invasion, and Angiogenesis via p38 MAPK Pathway in Human Glioblastoma. | biomarker | {
"id": 1398,
"name": "CRK",
"pos": [
58,
3
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
84,
12
]
} |
The aPC resistance is not due to factor V Leiden, but is rather associated with elevated levels of factor VIII and fibrinogen, and in itself does not predict thrombosis. | NA | {
"id": 2153,
"name": "F5",
"pos": [
33,
15
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
115,
10
]
} |
This diagnostic utility was tested by measuring total esterase D and differentiating esterase D to its different phenotypes in red cells of patients with bilateral retinoblastoma, unilateral retinoblastoma having a positive family history and unilateral sporadic retinoblastoma. | NA | {
"id": 2098,
"name": "ESD",
"pos": [
85,
10
]
} | {
"id": "C0854915",
"name": "Retinoblastoma unilateral",
"pos": [
180,
25
]
} |
MPs of Cx3cr1(-/-) mice that develop MP accumulation on the RPE, photoreceptor degeneration, and increased choroidal neovascularization similarly express high levels of APOE. | NA | {
"id": 1524,
"name": "CX3CR1",
"pos": [
7,
6
]
} | {
"id": "C0600518",
"name": "Choroidal Neovascularization",
"pos": [
107,
28
]
} |
GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation. | genomic_alterations | {
"id": 2706,
"name": "GJB2",
"pos": [
0,
4
]
} | {
"id": "C0265336",
"name": "Senter syndrome",
"pos": [
37,
12
]
} |
One of the novel kinases is a new member of the sterile 20 (STE20) family of serine-threonine kinases which we have called prostate-derived STE20-like kinase (PSK) and characterized functionally. | NA | {
"id": 9344,
"name": "TAOK2",
"pos": [
159,
3
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
48,
7
]
} |
TP53 mutations with 0.05-1.0% VAF were more prevalent (p < 0.05) and also enriched for tobacco smoke and age-associated mutation signatures in normal AEC from lung cancer cases compared to non-cancer controls matched for smoking and age. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
0,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
196,
6
]
} |
Deactivation of sarcoma family kinase by its inhibitor (3-(4-chlorophenyl) 1-(1,1-dimethylethyl)-1 H-pyrazolo[3,4- dpyrimidin-4-amine) suppressed the elevated enzyme activity and cortical susceptibility to cortical spreading depression. | biomarker | {
"id": 6992,
"name": "PPP1R11",
"pos": [
45,
12
]
} | {
"id": "C4551686",
"name": "Malignant neoplasm of soft tissue",
"pos": [
16,
7
]
} |
To test this hypothesis in humans in vivo the immunohistochemical expression of c-fos-immunoreactive material (c-fos-irm) was assessed in nasal polyps from eight steroid naive subjects, polyps from eight subjects treated with topical beclomethasone dipropionate (BDP), and normal inferior turbinate nasal mucosa (n = 6). | NA | {
"id": 2353,
"name": "FOS",
"pos": [
80,
5
]
} | {
"id": "C0032584",
"name": "polyps",
"pos": [
186,
6
]
} |
An exploratory analysis of the treatment effects in a subgroup of patients with depression, anxiety or insomnia indicates that RTW-I reduced sick leave faster than CBT. | biomarker | {
"id": 611,
"name": "OPN1SW",
"pos": [
164,
3
]
} | {
"id": "C0917801",
"name": "Sleeplessness",
"pos": [
103,
8
]
} |
There are two major hypotheses about the pathogenesis of chronic pancreatitis known as the "necrosis-fibrosis" and "pancreatic stone protein" hypotheses. | NA | {
"id": 5967,
"name": "REG1A",
"pos": [
116,
24
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
101,
8
]
} |
Homozygous MTHFR 677 C-->T gene mutation was found in 7 patients (14%); one of them also had a plasminogen deficiency. | NA | {
"id": 6862,
"name": "TBXT",
"pos": [
25,
6
]
} | {
"id": "C0398621",
"name": "Hypoplasminogenemia",
"pos": [
95,
22
]
} |
To assess the association between the neprilysin (NEP) gene and apolipoprotein E (ApoE) gene polymorphisms and sporadic Alzheimer's disease (SAD) in Xinjiang Uygur population. | NA | {
"id": 4311,
"name": "MME",
"pos": [
50,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
111,
8
]
} |
Protective effect of glutathione against liver warm ischemia-reperfusion injury in rats is associated with regulation of P-selectin and neutrophil infiltration. | biomarker | {
"id": 6403,
"name": "SELP",
"pos": [
121,
10
]
} | {
"id": "C0035126",
"name": "Reperfusion Injury",
"pos": [
52,
27
]
} |
Interestingly, our <i>in vitro</i> experiments showed that NX impairs HBMECs migration but also regulates the release of angiogenic factors from U87-MG. | biomarker | {
"id": 23145,
"name": "SSPO",
"pos": [
71,
2
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
157,
6
]
} |
Different clinical effects upon separate inhibition of coexisting EGFR and PI3KCA mutations in a lung adenocarcinoma patient. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
66,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
97,
19
]
} |
None of 41 AIDP patients, including 8 cytomegalovirus-related AIDP patients, and 23 CIDP had IgG or IgM antibodies to ezrin, radixin and moesin; whereas, one patient with cytomegalovirus-related AIDP had anti-ezrin IgM antibodies. | NA | {
"id": 4478,
"name": "MSN",
"pos": [
137,
6
]
} | {
"id": "C0010823",
"name": "Cytomegalovirus Infections",
"pos": [
171,
15
]
} |
The EVPL gene has been mapped to the tylosis oesophageal cancer (TOC) locus on chromosome 17q25, where it has been demonstrated to be frequently deleted in both familial and sporadic forms of oesophageal squamous cell carcinoma (OSC). | NA | {
"id": 2125,
"name": "EVPL",
"pos": [
4,
9
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
174,
8
]
} |
To investigate the expression of ubiquitin in monocytes and lymphocytes isolated from patients at different stages of CAD, 120 patients with CAD (40 with acute myocardial infarction [AMI], 40 with unstable angina pectoris [UAP] and 40 with stable angina pectoris [SAP]) were selected; 40 patients with normal coronary arteries served as controls. | genomic_alterations | {
"id": 4068,
"name": "SH2D1A",
"pos": [
264,
3
]
} | {
"id": "C0340288",
"name": "Stable angina",
"pos": [
240,
22
]
} |
The role of soluble interleukin-4 receptor and interleukin-5 antibody in preventing late-phase allergy-induced eustachian tube dysfunction. | therapeutic | {
"id": 3566,
"name": "IL4R",
"pos": [
20,
23
]
} | {
"id": "C0029883",
"name": "Otitis Media with Effusion",
"pos": [
111,
27
]
} |
Abbreviations: CS: cross-sectional; CC: case-control; NR: not reported; ATS: American Thoracic Society; BMRC: British Medical Research Council; GOLD: Global Initiative for Obstructive Lung Disease; IAP: indoor air pollution; BMF: biomass fuel; CB: chronic bronchitis; OR: odds ratio; UCI; upper confidence interval; LCI: lower confidence interval; COPD: chronic obstructive pulmonary disease. | biomarker | {
"id": 3375,
"name": "IAPP",
"pos": [
198,
3
]
} | {
"id": "C0600260",
"name": "Lung Diseases, Obstructive",
"pos": [
172,
24
]
} |
Mutations in the gene encoding glutamine-fructose-6-phosphate transaminase 1 (GFPT1) cause the neuromuscular disorder limb-girdle congenital myasthenic syndrome (LG-CMS). | NA | {
"id": 23607,
"name": "CD2AP",
"pos": [
165,
3
]
} | {
"id": "C0027868",
"name": "Neuromuscular Diseases",
"pos": [
95,
22
]
} |
Genetic variants in the human glucocorticoid-induced leucine zipper (GILZ) gene in fertile and infertile men. | NA | {
"id": 1831,
"name": "TSC22D3",
"pos": [
69,
4
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
95,
9
]
} |
Before IWT, the body mass index and diastolic blood pressure (DBP) for men were 25.1+/-0.3 kg/m(2) (mean+/-SE) and 84+/-1 mm Hg in TT, higher than the 23.6+/-0.4 kg/m(2) and 78+/-1 mm Hg in CC, respectively (P<0.01), differences that disappeared after IWT despite similar training achievement between groups (P>0.6). | NA | {
"id": 1628,
"name": "DBP",
"pos": [
62,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
36,
24
]
} |
Our study objective was to investigate the association between atopy and two described di-allelic polymorphisms in the TNF locus: a G to A transition at position -308 in the 5'-promoter region of the TNFA gene (TNFA*1 and TNFA*2 alleles) and an Ncol restriction fragment length polymorphism (RFLP) in the first intron of the TNFB gene (TNFB*1 and TNFB*2 alleles). | NA | {
"id": 4049,
"name": "LTA",
"pos": [
347,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
63,
5
]
} |
We show that the translocation t(12;16)(q13:p11) in malignant myxoid liposarcoma can be a fusion of the CHOP dominant negative transcription factor gene with a novel gene, FUS, which can result in fusion of the FUS glycine-rich protein with the whole CHOP coding region. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
44,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
17,
13
]
} |
We demonstrate decreased KLF4 expression in AML patient samples with various cytogenetic aberrations, confirm that KLF4 overexpression promotes myeloid differentiation and inhibits cell proliferation in AML cell lines, and identify new targets of KLF4. | NA | {
"id": 9314,
"name": "KLF4",
"pos": [
247,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
77,
23
]
} |
In an effort to resolve this difference, the present study examined noncultured melanocytic lesions (i.e., 5 benign nevi, 10 dysplastic nevi, and 8 primary melanomas: 4 in situ and 4 invasive) for point mutations at codon 12 in the first exon of the Ki-ras proto-oncogene using polymerase chain reaction methodology with oligonucleotide hybridization and direct DNA sequencing. | NA | {
"id": 3845,
"name": "KRAS",
"pos": [
250,
6
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
116,
4
]
} |
Our findings of reduced activation and/or expression of ERK5 and MEK5, and reduced MEF2C-DNA-binding activity demonstrate abnormalities in ERK5 signaling in hippocampus of suicide subjects and suggest possible involvement of this aberrant signaling in pathogenic mechanisms of suicide. | NA | {
"id": 4208,
"name": "MEF2C",
"pos": [
83,
5
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
277,
7
]
} |
Treatment with IGF1 activates PKB/Akt and Jnk and through them inhibits p53, rescuing the cells from starvation. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
72,
3
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
101,
10
]
} |
Real-time methylation-specific PCR analysis showed that although both normal lung tissue and adenocarcinoma in situ bore a completely methylated SFN promoter, the promoter region in almost all invasive adenocarcinomas was at least partially methylated. | NA | {
"id": 25996,
"name": "REXO2",
"pos": [
145,
3
]
} | {
"id": "C0334276",
"name": "Adenocarcinoma in Situ",
"pos": [
93,
22
]
} |
G-->T transversions in the TP53 gene are more common in lung cancers from smokers than in any other cancer except for hepatocellular carcinomas linked to aflatoxin. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
30,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
103,
6
]
} |
Immunoprecipitation and immunoblot results showed that PP2 and MK801 significantly decreased the activation of Src, HPK1, MLK3, JNK3 and c-Jun, respectively, during ischemia/reperfusion. | NA | {
"id": 4296,
"name": "MAP3K11",
"pos": [
122,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
165,
8
]
} |
GSH depletion and consequent AKT inhibition contribute to the Nrf2 knockdown-induced decrease in proliferation in glioblastoma U251 cells. | biomarker | {
"id": 2551,
"name": "GABPA",
"pos": [
62,
4
]
} | {
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
114,
12
]
} |
A novel functional promoter polymorphism in NOS1 was associated with traits related to impulsivity, including hyperactive and aggressive behaviors. | genomic_alterations | {
"id": 4842,
"name": "NOS1",
"pos": [
44,
4
]
} | {
"id": "C0021125",
"name": "Impulsive Behavior",
"pos": [
87,
11
]
} |
We generated cardiac-specific inducible PMCA4b transgenic mice that displayed normal global Ca2+ transient and cellular contraction levels and reduced cardiac hypertrophy following transverse aortic constriction (TAC) or phenylephrine/Ang II infusion, but showed no reduction in exercise-induced hypertrophy. | NA | {
"id": 760,
"name": "CA2",
"pos": [
92,
3
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
151,
19
]
} |
These data suggest that endocannabinoids contribute to hyperdynamic circulation and mesenteric hyperaemia in cirrhosis, via CB(1)- and VR1-mediated mechanisms. | NA | {
"id": 7442,
"name": "TRPV1",
"pos": [
135,
3
]
} | {
"id": "C0020452",
"name": "Hyperemia",
"pos": [
95,
10
]
} |
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