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|---|---|---|---|
This study shows the value of TP53-mutated DNA as a molecular marker to predict locally recurrent head and neck squamous cell carcinoma. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
30,
4
]
} | {
"id": "C4524839",
"name": "Recurrent Head and Neck Squamous Cell Carcinoma",
"pos": [
88,
47
]
} |
Results Calcitriol decreased the adhesion molecules expression, as well as the LPS-induced mRNA expressions of RAGE and IL-6 and LPS induced IL-6 secretion. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
120,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
33,
8
]
} |
Together, these results implicate MIF in the pathogenesis of esophageal inflammation and suggest that targeting MIF might represent a novel therapy for EoE. | NA | {
"id": 268,
"name": "AMH",
"pos": [
112,
3
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
61,
10
]
} |
It saves the need for heparin-infusion test, which carries the risk of hemorrhage, and the measurement of LPL activity, which is tedious and is not widely available. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
106,
3
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
71,
10
]
} |
In this issue of Cancer Discovery, Murugaesu and colleagues, using an in vivo functional RNA interference metastasis screen, identified sialyltransferase ST6GalNAc2 as a novel metastasis suppressor gene. | biomarker | {
"id": 10610,
"name": "ST6GALNAC2",
"pos": [
154,
10
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
176,
10
]
} |
Here, we found that ING5 overexpression increased autophagy, differentiation, and decreased proliferation, apoptosis, migration, invasion and lamellipodia formation in gastric cancer cells, while ING5 knockdown had the opposite effects. | NA | {
"id": 84289,
"name": "ING5",
"pos": [
20,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
168,
14
]
} |
Intracardiac inoculation (to mimic systemic dissemination) of miR-409-5p inhibitor-treated bone metastatic ARCaPM prostate cancer cells in mice led to decreased bone metastasis and increased survival compared with control vehicle-treated cells. | biomarker | {
"id": 574413,
"name": "MIR409",
"pos": [
62,
7
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
161,
15
]
} |
All cell lines and primary blasts with E2A-PBX1 translocation and a portion of patients with other high risk genotypes, such as MLL rearrangement, expressed cell surface ROR1. | NA | {
"id": 4919,
"name": "ROR1",
"pos": [
170,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
48,
13
]
} |
RT-PCR analysis showed that CT15 is expressed exclusively in renal cancer, whereas CT16 and CT17 are expressed in a range of human cancers. | NA | {
"id": 149998,
"name": "LIPI",
"pos": [
92,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
131,
7
]
} |
Role of β2-microglobulin in postoperative cognitive decline. | biomarker | {
"id": 567,
"name": "B2M",
"pos": [
8,
16
]
} | {
"id": "C0338656",
"name": "Impaired cognition",
"pos": [
42,
17
]
} |
To investigate the roles of parafibromin expression in tumorigenesis, progression, and prognostic evaluation of head and neck squamous cell carcinomas (HNSCCs), we transfected parafibromin-expressing plasmid into HNSCC cell and examined the phenotypes and their relevant molecules. | NA | {
"id": 79577,
"name": "CDC73",
"pos": [
176,
12
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
55,
13
]
} |
Studies of mice with mild Marfan syndrome (MFS) have correlated the development of thoracic aortic aneurysm (TAA) with improper stimulation of noncanonical (Erk-mediated) TGFβ signaling by the angiotensin type I receptor (AT1r). | NA | {
"id": 185,
"name": "AGTR1",
"pos": [
222,
4
]
} | {
"id": "C0162872",
"name": "Aortic Aneurysm, Thoracic",
"pos": [
83,
24
]
} |
Suppression of androgen-independent prostate cancer cell aggressiveness by FTY720: validating Runx2 as a potential antimetastatic drug screening platform. | NA | {
"id": 860,
"name": "RUNX2",
"pos": [
94,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
57,
14
]
} |
As a consequence of these findings SCN1A should be considered in the molecular routine screening in MECP2-negative individuals with RTT and early onset epilepsy. | genomic_alterations | {
"id": 6323,
"name": "SCN1A",
"pos": [
35,
5
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
152,
8
]
} |
Several lines of evidence implicate ATX and its product lysophosphatidic acid in human pancreatic cancer. | NA | {
"id": 5168,
"name": "ENPP2",
"pos": [
36,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
87,
17
]
} |
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
13,
3
]
} | {
"id": "C0020557",
"name": "Hypertriglyceridemia",
"pos": [
73,
21
]
} |
In SJL/J mice (which have constitutively high levels of hepatic portal tract inflammatory cell recruitment), feeding a PXR activator inhibited inflammation, TNFalpha and Il-1alpha mRNA expression in SJL/J-PXR(+/+), but not SJL/J-PXR(-/-). | NA | {
"id": 8856,
"name": "NR1I2",
"pos": [
229,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
143,
12
]
} |
The P values of odds ratios to habitual smoking for CYP17A1, ESR1, EPHX1, GSTT2, ALDH2, NOS2A, OGG1, and SLC6A4 and those of odds ratios to habitual drinking for CYP1B1, ESR1, HSD17B3, GSTM3, COMT, ADH1C, ALDH2, NOS3, and NUDT1 were under 0.05. | NA | {
"id": 1545,
"name": "CYP1B1",
"pos": [
162,
6
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
149,
8
]
} |
Twenty-four patients with locally advanced, resectable esophageal cancer (cT2-4,Nx,M0) received neoadjuvant 5-FU/cisplatin/36 Gy treatment followed by transthoracic en bloc esophagectomy. | NA | {
"id": 85413,
"name": "SLC22A16",
"pos": [
74,
3
]
} | {
"id": "C0014859",
"name": "Esophageal Neoplasms",
"pos": [
55,
17
]
} |
As AACS was expressed in neural-like cells, ketone bodies are assumed to be utilized for the synthesis of lipidic substances and to cause metabolic disorders in the nervous system. | NA | {
"id": 65985,
"name": "AACS",
"pos": [
3,
4
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
165,
14
]
} |
To define the KIT, NRAS, BRAF and PTEN mutation frequencies in Swedish patients with ALM and to evaluate the impact of mutation status on patient and tumor characteristics. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
25,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
150,
5
]
} |
Because bleeding, inflammation, and ischemia-associated increased vascular permeability enhance access of plasma factor VII to HESC-expressed TF to generate thrombin, we evaluated the effects of steroids, thrombin, and hypoxia on HESC expression of IL-8. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
249,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
219,
7
]
} |
The MIF protein secretion was analyzed by ELISA, MIF mRNA expression by quantitative real-time polymerase chain reaction (PCR), NF-kappaB translocation into the nucleus by electrophoresis mobility shift assay, I kappaB phosphorylation and degradation by Western blot, and human MIF promoter activity by transient cell transfection. | NA | {
"id": 268,
"name": "AMH",
"pos": [
278,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
138,
13
]
} |
The aim of this study was to investigate whether there is an interaction between birthweight and common variants in the TCF7L2, HHEX, PPARG, KCNJ11, SLC30A8, IGF2BP2, CDKAL1, CDKN2A/2B and JAZF1 genes in the risk of developing type 2 diabetes. | NA | {
"id": 3767,
"name": "KCNJ11",
"pos": [
141,
6
]
} | {
"id": "C0005612",
"name": "Birth Weight",
"pos": [
81,
11
]
} |
MnSOD overexpression confers cisplatin resistance in lung adenocarcinoma via the NF-κB/Snail/Bcl-2 pathway. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
81,
5
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
53,
19
]
} |
Liver tissue from 20 hepatitis C-infected patients with variable alcohol consumption, and 10 normal control subjects was examined for hepatocyte apoptosis, proliferation and bcl-2 expression. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
174,
5
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
65,
19
]
} |
We studied the effects of CYP2C9, mEH, GSTA1, and GGCX genotypes on warfarin maintenance doses, accounting for age, weight, vitamin K plasma concentrations and concurrent medications, in 100 patients undergoing therapeutic anticoagulation. | NA | {
"id": 1559,
"name": "CYP2C9",
"pos": [
26,
6
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
116,
6
]
} |
These results demonstrate an important role of MIF in the pathogenesis of EAM and suggest that MIF blockade may be a promising new strategy for the treatment of myocarditis. | NA | {
"id": 268,
"name": "AMH",
"pos": [
95,
3
]
} | {
"id": "C0027059",
"name": "Myocarditis",
"pos": [
161,
11
]
} |
Conformational SERS Classification of K-Ras Point Mutations for Cancer Diagnostics. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
38,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
64,
6
]
} |
Analysis of 85 English and 40 Finnish subjects with high myopia (refractive error of -6 diopters [D] or greater) resulted in 23 sequence variations in four SLRP genes, LUM, FMOD, PRELP, and OPTC. | genomic_alterations | {
"id": 4060,
"name": "LUM",
"pos": [
168,
3
]
} | {
"id": "C0271183",
"name": "Severe myopia",
"pos": [
52,
11
]
} |
Here we report an intrinsic immunobiological difference between individuals carrying two short (SS) versus long (LL) 5-HTTLPR alleles, that is observed in healthy subjects reporting low exposure to life stress. | genomic_alterations | {
"id": 6532,
"name": "SLC6A4",
"pos": [
117,
8
]
} | {
"id": "C0038443",
"name": "Stress, Psychological",
"pos": [
198,
11
]
} |
We aimed to evaluate known single nucleotide polymorphisms (SNPs) in genes along the histamine biotransformation and response pathway, and determine their association with asthma and HRH1 mRNA expression. | NA | {
"id": 1659,
"name": "DHX8",
"pos": [
183,
4
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
172,
6
]
} |
Drusen complement components C3a and C5a promote choroidal neovascularization. | NA | {
"id": 727,
"name": "C5",
"pos": [
37,
3
]
} | {
"id": "C0600518",
"name": "Choroidal Neovascularization",
"pos": [
49,
28
]
} |
Renal size, blood pressure, and extrarenal complications including liver cysts and cardiac valvular disease were unrelated to the ACE genotypes. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
130,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
12,
14
]
} |
NDRG1/Cap43/Drg-1 may predict tumor angiogenesis and poor outcome in patients with lung cancer. | biomarker | {
"id": 51534,
"name": "VTA1",
"pos": [
12,
5
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
83,
11
]
} |
Up-regulated endogenous erythropoietin/erythropoietin receptor system and exogenous erythropoietin rescue retinal ganglion cells after chronic ocular hypertension. | NA | {
"id": 2057,
"name": "EPOR",
"pos": [
39,
23
]
} | {
"id": "C0028840",
"name": "Ocular Hypertension",
"pos": [
143,
19
]
} |
However, the cellular location of Nox4 and its contribution to aberrant vascular remodeling in PH remains poorly understood. | NA | {
"id": 50507,
"name": "NOX4",
"pos": [
34,
4
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
72,
19
]
} |
The adjusted odds ratios (95% confidence intervals) of pancreatic cancer associated with the MDM2 T/G and G/G genotypes compared with TT were 1.89 (1.20-2.99) and 2.07 (1.03-4.16), respectively (adjusting for age, gender, smoking status, and pack-years of smoking). | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
93,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
256,
7
]
} |
The patients with A-T were remarkable for the absence of notable cerebellar atrophy on MRI, lack of frank ataxia on examination, and absence of ocular telangiectasias at original presentation, as well as the presence of prominent myoclonus-dystonia in 2 patients. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
87,
3
]
} | {
"id": "C0740279",
"name": "Cerebellar atrophy",
"pos": [
65,
18
]
} |
Notably, the up-regulation of Wnt/β-catenin pathway antagonists, DACT1 and CITED1, following NR4A1/2 ablation suggests a possible link between NR4A and β-catenin activity in melanoma cells. | NA | {
"id": 51339,
"name": "DACT1",
"pos": [
65,
5
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
174,
8
]
} |
We studied a novel adenosine kinase inhibitor (AKI), GP683, in a rat focal ischemia model. | NA | {
"id": 132,
"name": "ADK",
"pos": [
19,
16
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
75,
8
]
} |
and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations. | NA | {
"id": 57038,
"name": "RARS2",
"pos": [
510,
5
]
} | {
"id": "C1843852",
"name": "SPINOCEREBELLAR ATAXIA WITH EPILEPSY",
"pos": [
205,
36
]
} |
However steroid receptor status, ERBB2 (Her2/neu) staining, and aneuploidy do not correlate with allelic imbalance at 17q. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
40,
8
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
64,
10
]
} |
We investigated the role of transcriptional coactivator p300 and its interaction with myocyte enhancer factor 2 (MEF2) in diabetes-induced cardiomyocyte hypertrophy. | NA | {
"id": 2033,
"name": "EP300",
"pos": [
56,
4
]
} | {
"id": "C4227331",
"name": "Cardiomyocyte hypertrophy",
"pos": [
139,
25
]
} |
In addition to t(8;21) AML, CTSG downregulation is observed in AML patients with other cytogenetic/genetic abnormalities that potentially interrupt normal AML1 function, that is, inv(16) and EVI1 overexpression. | NA | {
"id": 1511,
"name": "CTSG",
"pos": [
28,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
107,
13
]
} |
However, systemic inhibition of miR-17/20 did not affect tumor angiogenesis. | biomarker | {
"id": 406952,
"name": "MIR17",
"pos": [
32,
6
]
} | {
"id": "C1519670",
"name": "Tumor Angiogenesis",
"pos": [
57,
18
]
} |
We observed an additional 12 associations (p < 0.01) between coding (nonsynonymous and synonymous) polymorphisms within the TLRs (TLR2, 7, and 8), IKBKE, TICAM1, NFKBIA, IRAK2, and KIAA1542 genes and variations in measles-specific IL-2, IL-6, IFN-α, IFN-γ, IFNλ-1, and TNF-α secretion levels. | NA | {
"id": 57661,
"name": "PHRF1",
"pos": [
181,
8
]
} | {
"id": "C0025007",
"name": "Measles",
"pos": [
214,
7
]
} |
The APOE varepsilon4 allele is associated with a variety of conditions such as Alzheimer's disease, coronary artery disease, stroke and postoperative cognitive dysfunction. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
4,
4
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
100,
23
]
} |
Circulating levels of moesin were measured in patients admitted to the intensive care unit with sepsis, severe sepsis, and septic shock; these patients showed significantly higher levels of moesin than healthy controls, which was strongly correlated with disease severity. | NA | {
"id": 4478,
"name": "MSN",
"pos": [
190,
6
]
} | {
"id": "C1719672",
"name": "Severe Sepsis",
"pos": [
104,
13
]
} |
In the present study, we investigated the effects of baicalin on CCR7 and its ligands, CCL19 and CCL21, as well as on the nuclear factor-κB (NF-κB) pathway in a mouse model of asthma. | biomarker | {
"id": 6366,
"name": "CCL21",
"pos": [
97,
5
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
176,
6
]
} |
A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging. | NA | {
"id": 8106,
"name": "PABPN1",
"pos": [
13,
6
]
} | {
"id": "C0240421",
"name": "Progressive muscle weakness",
"pos": [
28,
27
]
} |
We conclude that there are strong synergistic effects of the APOE epsilon3/epsilon2/epsilon4, the CETP TaqIB, and the APOC3 -482 C>T polymorphisms on their association with CAD. | genomic_alterations | {
"id": 1071,
"name": "CETP",
"pos": [
98,
4
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
176,
3
]
} |
These studies reveal a GATA2-IGF2 aggressiveness axis in lethal prostate cancer and identify a therapeutic opportunity in this challenging disease. | NA | {
"id": 2624,
"name": "GATA2",
"pos": [
23,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
34,
14
]
} |
The most effective, independent predictors of BRCA1 mutations were age at onset, HER2 status, and either ER or PR status, as compared with sporadic or non-BRCA1/BRCA2 cancers. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
155,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
139,
8
]
} |
Telomerase reverse transcriptase expression protects transformed human cells against DNA-damaging agents, and increases tolerance to chromosomal instability. | NA | {
"id": 7015,
"name": "TERT",
"pos": [
0,
32
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
133,
23
]
} |
In a series of 200 human brain gliomas and 13 normal tissues, we performed RT-PCR and mRNA in situ hybridization for analysis of p42.3 gene expression in gliomas, including astrocytoma (grade 2), oligoastrocytomas (grade 2), anaplastic oligoastrocytomas (grade 3), glioblastomas (grade 4) and normal tissues. | NA | {
"id": 89958,
"name": "SAPCD2",
"pos": [
129,
5
]
} | {
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
173,
11
]
} |
Progranulin (PGRN) is a secreted protein that has recently emerged as an important regulatory adipokine of glucose metabolism and insulin sensitivity. | NA | {
"id": 2896,
"name": "GRN",
"pos": [
13,
4
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
130,
19
]
} |
Participants were 399 males from the Christchurch Health and Development Study who had complete data on: (a) MAOA promoter region variable number tandem repeat genotype; (b) antisocial behaviour (criminal offending) to age 30 and convictions to age 21; and (c) maternal smoking during pregnancy, IQ, childhood maltreatment and school failure. | NA | {
"id": 4128,
"name": "MAOA",
"pos": [
109,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
270,
7
]
} |
Ahr(b1)_Cyp1a2(-/-) pups showed lower weight at birth and slower rate of growth postnatally. | NA | {
"id": 1544,
"name": "CYP1A2",
"pos": [
8,
6
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
38,
6
]
} |
Additionally, we found a high frequency of EGFR mutations in the tumour stroma of these invasive breast carcinomas. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
43,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
65,
6
]
} |
Typical features of AMM include leukoerythroblastosis, teardrop poikilocytosis, anemia, increased or normal LAP, prominent megakaryocytic hyperplasia in the marrow, dyshematopoiesis, and hyperplastic or fibrotic/sclerotic marrow. | NA | {
"id": 53,
"name": "ACP2",
"pos": [
108,
3
]
} | {
"id": "C0221281",
"name": "Poikilocytosis",
"pos": [
64,
14
]
} |
Selection of suitable housekeeping genes for real-time quantitative PCR in CD4(+) lymphocytes from asthmatics with or without depression. | NA | {
"id": 920,
"name": "CD4",
"pos": [
75,
3
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
126,
10
]
} |
Imatinib resistant chronic myelogenous leukemia, BCR-ABL positive by chromosome and FISH analyses but negative by PCR, in a child progressing to acute basophilic leukemia: cytogenetic follow-up. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
84,
4
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
19,
28
]
} |
Exogenous PlGF plays an important role in healing processes by improving cardiac function and stimulating angiogenesis following MI. | biomarker | {
"id": 5228,
"name": "PGF",
"pos": [
10,
4
]
} | {
"id": "C0155626",
"name": "Acute myocardial infarction",
"pos": [
129,
2
]
} |
The TEL/ARG oncogene is formed by t(1;12)(q25;p13) reciprocal translocation and is associated with human leukemia. | genomic_alterations | {
"id": 473,
"name": "RERE",
"pos": [
8,
3
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
105,
8
]
} |
In this study we present a new clinical association of severe neonatal encephalopathy (Lubs syndrome) and HSCR, in a male patient carrying a duplication at the Xq28 region which encompasses the MECP2 and L1CAM genes. | genomic_alterations | {
"id": 4204,
"name": "MECP2",
"pos": [
194,
5
]
} | {
"id": "C0235820",
"name": "Neonatal encephalopathy",
"pos": [
62,
23
]
} |
In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). | NA | {
"id": 116,
"name": "ADCYAP1",
"pos": [
375,
5
]
} | {
"id": "C0004352",
"name": "Autistic Disorder",
"pos": [
109,
6
]
} |
Additional studies demonstrated that AE1 is expressed in ADPKD kidneys, and is located at the basolateral pole of CFTR-positive ADPKD cysts that do not express NKCC1. | NA | {
"id": 6521,
"name": "SLC4A1",
"pos": [
37,
3
]
} | {
"id": "C0010709",
"name": "Cyst",
"pos": [
134,
5
]
} |
Not only did expression of CLDN1 decrease significantly in response to reduction of intracellular beta-catenin by adenovirus-mediated transfer of wild-type APC into the APC-deficient colon cancer cells, but also two putative Tcf4 binding elements in the 5' flanking region of CLDN1 were confirmed to be responsible for activating its transcription. | NA | {
"id": 6925,
"name": "TCF4",
"pos": [
225,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
114,
10
]
} |
In patients with high-risk prostate cancer presenting with PSA < 80 µg/l and absent clinical symptoms, vertex to mid-thighs 3-FOV-SPECT/CT was representative for the entire skeletal system and was able to detect more lesions than planar acquisition. | genomic_alterations | {
"id": 5627,
"name": "PROS1",
"pos": [
59,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
27,
15
]
} |
The CDKN2C gene coding for the cyclin-dependent kinase inhibitor p18 is localized on 1p32, a region frequently involved in chromosomal changes in melanomas and other tumors. | biomarker | {
"id": 10168,
"name": "ZNF197",
"pos": [
65,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
146,
9
]
} |
Dysregulation of BACE1 levels leading to excess Aβ deposition is implicated in sporadic AD. | NA | {
"id": 23621,
"name": "BACE1",
"pos": [
17,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
79,
8
]
} |
In the sarcomeric M-band, the giant ruler proteins titin and obscurin, its small homologue obscurin-like-1 (obsl1), and the myosin cross-linking protein myomesin form a ternary complex that is crucial for the function of the M-band as a mechanical link. | NA | {
"id": 84033,
"name": "OBSCN",
"pos": [
91,
8
]
} | {
"id": "C0017547",
"name": "Gigantism",
"pos": [
30,
5
]
} |
SP-A and SP-D have been shown to be involved in viral neutralization, clearance of bacteria, fungi, and apoptotic and necrotic cells, down-regulation of allergic reaction, and resolution of inflammation. | NA | {
"id": 653509,
"name": "SFTPA1",
"pos": [
0,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
118,
8
]
} |
The clinical implications of platelet derived growth factor B, vascular endothelial growth factor and basic fibroblast growth factor in colorectal cancer. | biomarker | {
"id": 2247,
"name": "FGF2",
"pos": [
102,
30
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
136,
17
]
} |
We analyzed p15INK4B, p16INK4, and p18 alterations in 52 osteosarcomas (including 11 explants), and 23 other various sarcomas. | genomic_alterations | {
"id": 1031,
"name": "CDKN2C",
"pos": [
35,
3
]
} | {
"id": "C0029463",
"name": "Osteosarcoma",
"pos": [
57,
13
]
} |
The purpose of this study was to discuss our investigation of the hypermethylation of promoter regions of tumor suppressor genes, such as death-associated protein kinase (DAPK) and p16, in vulvar lichen sclerosus (LS), in comparison with a control group. | NA | {
"id": 1612,
"name": "DAPK1",
"pos": [
171,
4
]
} | {
"id": "C0023652",
"name": "Lichen Sclerosus et Atrophicus",
"pos": [
196,
16
]
} |
Being able to conduct FISH examinations at a reasonable price with or without prior immunohistochemical analysis, departments confronted with a certain frequency of breast cancer cases might extensively use the type of TMAs applied in our study. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
22,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
165,
13
]
} |
4 and 5 groups had a higher frequency of hyperdiploid cells (%HDC), including aneuploid and polyploid cells than grade I chondrosarcomas. | NA | {
"id": 3067,
"name": "HDC",
"pos": [
62,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
78,
9
]
} |
In each lesion type, various mutations, including LDL receptor related protein 1B gene (LRP1B), KRAS, EGFR, and BRAF were observed in AAH, and EGFR mutations were the most frequently observed in ADC. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
143,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
195,
3
]
} |
It binds to a novel putative tumor suppressor MCC2 that is homologous to MCC (mutated in colon cancer) through a PSD-95/Dlg/ZO-1 (PDZ) domain. | NA | {
"id": 83878,
"name": "USHBP1",
"pos": [
46,
4
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
89,
12
]
} |
We think that these results propose a new mechanism by which ApoE4 affects brain function and suggest that inhibition of PKR is a way to restore memory impairment in early stages of sporadic AD. | NA | {
"id": 5610,
"name": "EIF2AK2",
"pos": [
121,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
182,
8
]
} |
We have now tested this hypothesis by comparing the frequency of children with leukaemia (n = 982) who typed for specific DPB1 alleles and two groups of non-leukaemic children, one consisting of children with solid tumours, excluding lymphomas (n = 409), the other consisting of normal infants (n = 864). | genomic_alterations | {
"id": 3115,
"name": "HLA-DPB1",
"pos": [
122,
4
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
234,
9
]
} |
Thirteen of the 56 patients studied cytogenetically had monosomy for the short arm of chromosome 17 and, in another patient who had secondary MDS, a translocation involving a breakpoint in 17p13 where the p53 gene was mapped was found. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
205,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
149,
13
]
} |
Knockdown of 15-LOX-2 expression decreased CXCL10 secretion from hypoxic macrophages and also reduced T cell migration. | NA | {
"id": 3627,
"name": "CXCL10",
"pos": [
43,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
65,
7
]
} |
These findings can explain the observed physiological abnormalities in patients with pseudohypoaldosteronism type II, and support a model in which WNK4 is a molecular switch that can alter the balance between chloride ion reabsorption and potassium ion secretion. | NA | {
"id": 65266,
"name": "WNK4",
"pos": [
147,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
54,
13
]
} |
Hepatic lipase (LIPC) promoter polymorphism in men with coronary artery disease. Allele frequency and effects on hepatic lipase activity and plasma HDL-C concentrations. | genomic_alterations | {
"id": 3990,
"name": "LIPC",
"pos": [
16,
4
]
} | {
"id": "C0010068",
"name": "Coronary heart disease",
"pos": [
56,
23
]
} |
Besides, NDRG4 could be also considered as a significant diagnostic marker gene in CRC (DOR: 24.37; 95%CI, 10.11-58.73) and VIM in adenoma (DOR: 15.21; 95%CI, 2.72-85.10). | biomarker | {
"id": 65009,
"name": "NDRG4",
"pos": [
9,
5
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
131,
7
]
} |
We used the genotyping data of 1,115 common single nucleotide polymorphisms (SNPs) in the 12 pathway core genes (i.e., MST1, MST2, SAV1, LATS1, LATS2, MOB1A, MOB1B, YAP1, TEAD1, TEAD2, TEAD3 and TEAD4) from the dataset of our previously published CM genome-wide association study and comprehensively analyzed their associations with CM-specific survival (CSS) in 858 CM patients by using the Kaplan-Meier analyses and Cox proportional hazards regression models. | NA | {
"id": 4485,
"name": "MST1",
"pos": [
119,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
443,
10
]
} |
Our findings demonstrate that expression of PRMT4/CARM1 and PRMT6 is deregulated in melanoma, whereas expression of the remaining PRMTs stays unchanged. | NA | {
"id": 10498,
"name": "CARM1",
"pos": [
50,
5
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
84,
8
]
} |
Adenovirus-mediated overexpression of Fstl1 protected cultured neonatal rat ventricular myocytes from hypoxia/reoxygenation-induced apoptosis (P<0.01), and this protective effect was dependent on the upregulation of both Akt and ERK activities. | NA | {
"id": 2048,
"name": "EPHB2",
"pos": [
229,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
102,
7
]
} |
These results provide preliminary evidence that genetic polymorphisms in TALDO1 are associated with SCCHN. | genomic_alterations | {
"id": 6888,
"name": "TALDO1",
"pos": [
73,
6
]
} | {
"id": "C1168401",
"name": "Squamous cell carcinoma of the head and neck",
"pos": [
100,
5
]
} |
Physiologically, hepcidin is controlled by iron stores, inflammation, hypoxia, and erythropoiesis. | NA | {
"id": 57817,
"name": "HAMP",
"pos": [
17,
8
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
70,
7
]
} |
The proband's mother, one of the heterozygotes for LPL(Arita) in the family, had both severe hypercholesterolemia (total cholesterol 306 mg/dl) with an especially increase in LDL-cholesterol and mild hypertriglyceridemia (180 mg/dl). | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
51,
3
]
} | {
"id": "C0020443",
"name": "Hypercholesterolemia",
"pos": [
93,
20
]
} |
Moreover, mouse 4T1 breast tumor model studies revealed that FBXO22 KD led to a significant increase of breast tumor cell metastasis to the lung. | biomarker | {
"id": 26263,
"name": "FBXO22",
"pos": [
61,
6
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
122,
22
]
} |
The study revealed a statistically significant co-variation (p<0.05) between meningiomas grade II associated with several clinicopathological features (Simpson grade of clinical resection, necrosis, nuclear atypia, macronucleoli, transition to small cell, sheet-like growth, high cellularity), increased expression of several biomarkers of tumour proliferation (Cyclin A, Cyclin E, MIB-1 or MDM2), proteases (Cathepsin D) or cell-adhesion (CD44) and lower expression of progesterone receptors than meningiomas grade I. | NA | {
"id": 890,
"name": "CCNA2",
"pos": [
362,
8
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
430,
8
]
} |
In leukemias characterized by 11q23 amplification, we described the amplicon and confirmed MLL, in addition to DDX6, as a principal amplification target. | NA | {
"id": 1656,
"name": "DDX6",
"pos": [
111,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
3,
9
]
} |
These findings demonstrate that JUNB/AP-1 promotes cell death during acute hepatitis by regulating IFN-γ production in NK and NKT cells and thus functionally antagonizes the hepatoprotective function of c-JUN/AP-1 in hepatocytes. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
99,
3
]
} | {
"id": "C0267797",
"name": "Acute hepatitis",
"pos": [
69,
15
]
} |
Therefore, we also examined the effects of hypoxia on expression of nestin in human MSCs and examined a role for hypoxia inducible factor 1-alpha (HIF-1α) and vascular endothelial growth factor (VEGF) in the response. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
147,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
43,
7
]
} |
Our results indicate that increase of systolic blood pressure (SBP) is favored by ACE I/D- D allele and advanced age, while alcohol consumption and aging are associated with high diastolic blood pressure (DBP). | NA | {
"id": 1628,
"name": "DBP",
"pos": [
205,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
124,
19
]
} |
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