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dict | t
dict |
|---|---|---|---|
In IE patients, elevated proMBP was significantly correlated with the presence of splenomegaly (p < 0.05).
|
NA
|
{
"id": 5553,
"name": "PRG2",
"pos": [
25,
6
]
}
|
{
"id": "C0038002",
"name": "Splenomegaly",
"pos": [
82,
12
]
}
|
The expression of TLR4 in 30 specimens of chronic calculous cholecystitis, 13 specimens of gallbladder adenocarcinoma and 10 specimens of normal gallbladder tissue was determined by immunohistochemistry, western blotting analysis and quantitative RT-PCR.
|
NA
|
{
"id": 7099,
"name": "TLR4",
"pos": [
18,
4
]
}
|
{
"id": "C0279651",
"name": "Gallbladder adenocarcinoma",
"pos": [
91,
26
]
}
|
The effects of ARID1A knockdown on nasopharyngeal cancer cell proliferation, migration and invasion were evaluated in vitro using CCK8, wound healing, transwell and flow cytometry assays.
|
biomarker
|
{
"id": 8289,
"name": "ARID1A",
"pos": [
15,
6
]
}
|
{
"id": "C0238301",
"name": "Cancer of Nasopharynx",
"pos": [
35,
21
]
}
|
Clinical features associated with the homozygous Trp64Arg mutation of the beta3-adrenergic receptor: no evidence for its association with obesity in Japanese.
|
NA
|
{
"id": 27319,
"name": "BHLHE22",
"pos": [
74,
5
]
}
|
{
"id": "C0028754",
"name": "Obesity",
"pos": [
138,
7
]
}
|
After periodontal treatment the patients were seen once a month for plaque and bleeding control, and had their periodontal variables recorded and gingival crevicular fluid collected at 90 and 180 d. Purine nucleoside phosphorylase-specific activity was assessed using a spectrophotometer through the addition of the PNP substrate analog 2-amino-6mercapto-7-methyl purine riboside to the gingival crevicular fluid.
|
NA
|
{
"id": 4860,
"name": "PNP",
"pos": [
316,
3
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
68,
6
]
}
|
Under such conditions, SGC-7901 cells displayed cellular features associated with necrosis.
|
NA
|
{
"id": 6443,
"name": "SGCB",
"pos": [
23,
3
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
82,
8
]
}
|
Furthermore, the vph1 insertional mutant was also avirulent in a mouse meningo-encephalitis model.
|
genomic_alterations
|
{
"id": 23545,
"name": "ATP6V0A2",
"pos": [
17,
4
]
}
|
{
"id": "C0014038",
"name": "Encephalitis",
"pos": [
79,
12
]
}
|
The D2R may thus serve as a potential treatment target for primary aldosteronism.
|
NA
|
{
"id": 1813,
"name": "DRD2",
"pos": [
4,
3
]
}
|
{
"id": "C1384514",
"name": "Conn Syndrome",
"pos": [
59,
21
]
}
|
In addition, subjects with one or 2 copies of the Val allele at codon 249 of RAD23B had a 2-fold increased risk of lung cancer (OR = 1.91, 95% CI 1.12-3.24).
|
genomic_alterations
|
{
"id": 5887,
"name": "RAD23B",
"pos": [
77,
6
]
}
|
{
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
115,
11
]
}
|
The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line.
|
genomic_alterations
|
{
"id": 1277,
"name": "COL1A1",
"pos": [
105,
6
]
}
|
{
"id": "C0029434",
"name": "Osteogenesis Imperfecta",
"pos": [
73,
23
]
}
|
Finally, the authors would like to highlight that CD4+CD25+ Treg, especially the CD4+CD25+Foxp3+ Treg and TGF-beta play important roles in Uygur cervical carcinoma, and may have a correlation with survival.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
81,
3
]
}
|
{
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
145,
18
]
}
|
Peroxisome proliferator-activated receptor-delta genotype influences metabolic phenotype and may influence lipid response to statin therapy in humans: a genetics of diabetes audit and research Tayside study.
|
genomic_alterations
|
{
"id": 5467,
"name": "PPARD",
"pos": [
0,
48
]
}
|
{
"id": "C0011847",
"name": "Diabetes",
"pos": [
165,
8
]
}
|
Ligand activation of peroxisome proliferator-activated receptor (PPAR)-beta/delta and inhibition of cyclooxygenase-2 (COX-2) activity by nonsteroidal anti-inflammatory drugs can attenuate skin tumorigenesis.
|
NA
|
{
"id": 5465,
"name": "PPARA",
"pos": [
65,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
193,
13
]
}
|
Tumour engraftment permits dynamic imaging of neovascularization, niche partitioning of tumour-propagating cells in embryonal rhabdomyosarcoma, emergence of clonal dominance in T-cell acute lymphoblastic leukaemia and tumour evolution resulting in elevated growth and metastasis in BRAF(V600E)-driven melanoma.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
282,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
218,
6
]
}
|
RT-PCR analysis of a clear cell hidradenoma with a t(11;19)(q21;p13) translocation revealed expression of a TORC1-MAML2 fusion transcript consisting of exon 1 of TORC1 fused to exons 2-5 of MAML2.
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
64,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
69,
13
]
}
|
Women with sensory urgency (SU), interstitial cystitis (IC), and IDO were investigated by videourodynamics and cystoscopy.
|
NA
|
{
"id": 3620,
"name": "IDO1",
"pos": [
65,
3
]
}
|
{
"id": "C0282488",
"name": "Interstitial Cystitis",
"pos": [
33,
21
]
}
|
The most promising results have been obtained with NAC, which through multiple thiol-responsive mechanisms completely reversed established cardiac hypertrophy and fibrosis in three independent studies.
|
NA
|
{
"id": 22861,
"name": "NLRP1",
"pos": [
51,
3
]
}
|
{
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
139,
19
]
}
|
We demonstrate the induction of humoral immune response to lymphoma tumor-antigen se70-2 after treatment.
|
NA
|
{
"id": 64062,
"name": "RBM26",
"pos": [
82,
6
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
59,
8
]
}
|
In the mouse model of pulmonary fibrosis, neutralizing mAbs specific for WISP1 reduced the expression of genes characteristic of fibrosis and reversed the expression of genes associated with EMT.
|
NA
|
{
"id": 8840,
"name": "CCN4",
"pos": [
73,
5
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
129,
8
]
}
|
We did not find CYP3A5 nucleotide changes that could explain a higher risk for hypertension in pregnancy.
|
genomic_alterations
|
{
"id": 1577,
"name": "CYP3A5",
"pos": [
16,
6
]
}
|
{
"id": "C0565599",
"name": "Maternal hypertension",
"pos": [
79,
25
]
}
|
Previous cytogenetic/FISH data have demonstrated 1p36 deletions in a relapsing familial clivus chordoma developed by a patient who has 2 daughters, respectively affected with childhood astrocytoma and clivus chordoma.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
21,
4
]
}
|
{
"id": "C4086152",
"name": "Childhood Astrocytoma",
"pos": [
175,
21
]
}
|
The authors used fluorescent microsatellite genotyping following laser-capture microdissection and chromosome in situ hybridization (CISH) to perform a genetic analysis of six patients with histologically diagnosed PHM who subsequently developed metastatic gestational trophoblastic neoplasia.
|
NA
|
{
"id": 5066,
"name": "PAM",
"pos": [
215,
3
]
}
|
{
"id": "C1135868",
"name": "Gestational Trophoblastic Neoplasms",
"pos": [
257,
35
]
}
|
Here we show that the Notch ligand JAG2 is transcriptionally activated by hypoxia in a HIF-1α dependent manner.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
87,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
74,
7
]
}
|
There was no statistically significant evidence of multiplicative interactions between any pair of genotypes based on CYP2E1 RsaI, CYP2E1 DraI, GSTP1, GSTM1, or GSTT1; nor between Helicobacter pylori status and any of these five loci; nor between smoking status and GSTP1, GSTM1, or GSTT1; nor between alcohol consumption and ALDH2.
|
NA
|
{
"id": 2944,
"name": "GSTM1",
"pos": [
273,
5
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
302,
19
]
}
|
This study was undertaken to investigate the effects of IL-27 on human osteoclastogenesis, to determine whether IL-27 can stimulate or attenuate the osteoclast-mediated bone resorption that is a hallmark of RA.
|
NA
|
{
"id": 53342,
"name": "IL17D",
"pos": [
113,
5
]
}
|
{
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
170,
15
]
}
|
We found significant associations with the risk of breast cancer for rs34087264 in AARS [odds ratio (OR) = 1.15, 95% confidence interval (CI) = 1.01-1.31], rs801186 in HARS (OR = 1.29, 95% CI = 1.08-1.54), rs193466 in RARS (OR = 1.17, 95% CI = 1.02-1.35), and rs2273802 in WARS (OR = 1.14, 95% CI = 1.01-1.30).
|
genomic_alterations
|
{
"id": 16,
"name": "AARS1",
"pos": [
83,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
51,
13
]
}
|
INF-gamma, but not TGF-beta1 gene polymorphism, correlates with early recurrent hepatitis C after transplantation.
|
genomic_alterations
|
{
"id": 7040,
"name": "TGFB1",
"pos": [
19,
9
]
}
|
{
"id": "C0019196",
"name": "Hepatitis C",
"pos": [
70,
21
]
}
|
Activation of the Sonic hedgehog (Shh) signal in interaction with the transcription nuclear factor-kappa B (NF-κB) pathway is crucial for cancer aggressiveness.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
108,
5
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
145,
14
]
}
|
Taken together, our study demonstrated that hypoxia-induced HIF-1α expression involves a cascade of signaling events including ROS generation, activation of PI3K and ERK signaling, and subsequent activation of Rac1.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
166,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
44,
7
]
}
|
These abnormalities have similarities with the skeletal anomalies found in trisomy-16 mice and humans with Down's syndrome, in which the gene dosage of Ets2 is increased.
|
NA
|
{
"id": 2114,
"name": "ETS2",
"pos": [
152,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
6,
13
]
}
|
Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies.
|
NA
|
{
"id": 5274,
"name": "SERPINI1",
"pos": [
364,
4
]
}
|
{
"id": "C0242422",
"name": "Parkinsonian Disorders",
"pos": [
263,
12
]
}
|
Mitigation of arsenic-induced acquired cancer phenotype in prostate cancer stem cells by miR-143 restoration.
|
therapeutic
|
{
"id": 406935,
"name": "MIR143",
"pos": [
89,
6
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
59,
15
]
}
|
Furthermore, a World Health Organization (WHO) pilot survey of albinism was drafted in English, French and Portuguese, and distributed to African countries through WHO African Regional Offices (AFRO) in an attempt to gather further information on albinism.
|
NA
|
{
"id": 10974,
"name": "ADIRF",
"pos": [
194,
4
]
}
|
{
"id": "C0001916",
"name": "Albinism",
"pos": [
247,
8
]
}
|
In ARF, there was significant tubular necrosis and apoptosis, a 5-fold increase in proteinuria and a 2-fold enhancement in vasoconstriction to AII and U46619.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
3,
3
]
}
|
{
"id": "C1720775",
"name": "Renal tubular necrosis",
"pos": [
30,
16
]
}
|
Herein, we identify the scaffold protein CNK1 as a mediator of oncogenic signaling that promotes invasion in human breast cancer and cervical cancer cells.
|
NA
|
{
"id": 10256,
"name": "CNKSR1",
"pos": [
41,
4
]
}
|
{
"id": "C4048328",
"name": "cervical cancer",
"pos": [
133,
15
]
}
|
Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration.
|
NA
|
{
"id": 6785,
"name": "ELOVL4",
"pos": [
8,
6
]
}
|
{
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
99,
20
]
}
|
Chemotherapy-induced amenorrhea in patients with breast cancer with a BRCA1 or BRCA2 mutation.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
70,
5
]
}
|
{
"id": "C0002453",
"name": "Amenorrhea",
"pos": [
21,
10
]
}
|
During selection for methotrexate resistance, SV40-transformed human skin fibroblasts from patients with ataxia telangiectasia (A-T) underwent amplification of the dihydrofolate reductase (DHFR) gene, experienced nearly complete loss of the integrated SV40 sequences and showed a 3.6-fold increase in Ki-ras gene copy number.
|
NA
|
{
"id": 1719,
"name": "DHFR",
"pos": [
189,
4
]
}
|
{
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
112,
14
]
}
|
We included 60 patients with an unclassified autoinflammatory syndrome, 87 patients diagnosed with either hyper-IgD syndrome, familial Mediterranean fever (FMF) or tumour necrosis factor (TNF)-receptor-associated periodic syndrome and 50 healthy controls.
|
genomic_alterations
|
{
"id": 7124,
"name": "TNF",
"pos": [
164,
22
]
}
|
{
"id": "C0398691",
"name": "Hyperimmunoglobulinemia D",
"pos": [
106,
18
]
}
|
Overexpression of CHCHD4 proteins in tumor cells enhanced HIF-1α protein stabilization in hypoxic conditions, an effect insensitive to antioxidant treatment.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
58,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
90,
7
]
}
|
The importance of RNA metabolism in disease was highlighted by the discovery of TDP-43 (TAR DNA-binding protein of 43 kDa), an RNA-binding protein (RBP), as a primary component of insoluble aggregates in patients with sporadic amyotrophic lateral sclerosis (ALS).
|
NA
|
{
"id": 23435,
"name": "TARDBP",
"pos": [
88,
23
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
218,
8
]
}
|
The clinical relevance of this antigen was highlighted by our observation that patients with chronic prostatitis possessed specific autoantibodies against the human SVS2-like seminal vesicle protein semenogelin.
|
NA
|
{
"id": 6406,
"name": "SEMG1",
"pos": [
199,
11
]
}
|
{
"id": "C0085696",
"name": "Chronic prostatitis",
"pos": [
93,
19
]
}
|
We hypothesized that deletion of NFKBIA (encoding nuclear factor of κ-light polypeptide gene enhancer in B-cells inhibitor-α), an inhibitor of the EGFR-signaling pathway, promotes tumorigenesis in glioblastomas that do not have alterations of EGFR.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
243,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
180,
13
]
}
|
To our knowledge, this is the first report of t(5;12)(q13;p13) in a patient with acute myelogenous leukemia with preceding granulocytic sarcoma.
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
58,
3
]
}
|
{
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
81,
26
]
}
|
In addition, rhapontigenin promoted hypoxia-induced HIF-1α degradation and cycloheximide (CHX) blocked protein synthesis.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
52,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
36,
7
]
}
|
CKS1B protein overexpression in HCCs is implicated in clinical aggressiveness but not in p27(Kip1) turnover, implying presence of p27(Kip1)-independent oncogenic attributes.
|
NA
|
{
"id": 1027,
"name": "CDKN1B",
"pos": [
134,
4
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
63,
14
]
}
|
Our findings suggest differential progression pathways in the sporadic and familial non-BRCA1/2 breast tumours expressing glycodelin.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
88,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
62,
8
]
}
|
The clinical picture was characterized by a progressive encephalopathy featuring early-onset developmental delay, spasticity, seizures, lactic acidosis, brain atrophy and MRI signal changes in the basal ganglia.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
171,
3
]
}
|
{
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
93,
19
]
}
|
5-HT(2A)R A-1438G and T102C genotype explained approximately 11% of the PPI and early habituation variance.
|
genomic_alterations
|
{
"id": 3356,
"name": "HTR2A",
"pos": [
0,
7
]
}
|
{
"id": "C0013170",
"name": "Drug habituation",
"pos": [
86,
11
]
}
|
Body mass index, waist circumference, blood pressure, dual-energy x-ray absorptiometry body composition, and ADRB2 (Arg16Gly; Gln27Glu) genotype were determined.
|
NA
|
{
"id": 154,
"name": "ADRB2",
"pos": [
109,
5
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
38,
14
]
}
|
The aim of our study was to evaluate potential associations between the presence of gastric cancer (GC) and high risk atrophic gastritis (HRAG) and polymorphisms of genes encoding Angiotensin converting enzyme (ACE), Nod-like receptor 1 (NOD1), Toll-like receptor 4 (TLR4) and FAS/FASL.
|
NA
|
{
"id": 10392,
"name": "NOD1",
"pos": [
238,
4
]
}
|
{
"id": "C0017154",
"name": "Gastritis, Atrophic",
"pos": [
118,
18
]
}
|
TRAP levels were significantly associated with higher plasma PON1 activity, the RR functional genotype, non smoking by RR carriers, male gender and a higher BMI.
|
NA
|
{
"id": 5444,
"name": "PON1",
"pos": [
61,
4
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
108,
7
]
}
|
Ras-associated protein 1(Rap1) is a member of the RAS family of small G proteins and regulates several signal pathways involved in carcinogenesis.
|
biomarker
|
{
"id": 54386,
"name": "TERF2IP",
"pos": [
25,
4
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
131,
14
]
}
|
IL-8, a novel messenger to cross-link inflammation and tumor EMT via autocrine and paracrine pathways (Review).
|
NA
|
{
"id": 3702,
"name": "ITK",
"pos": [
61,
3
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
38,
12
]
}
|
We present here a case of phenotypic precursor-B acute lymphoblastic leukemia (ALL), subsequently found to have both MYC and MLL translocations.
|
genomic_alterations
|
{
"id": 4609,
"name": "MYC",
"pos": [
117,
3
]
}
|
{
"id": "C0279593",
"name": "Adult B Acute Lymphoblastic Leukemia",
"pos": [
47,
30
]
}
|
In a series of sporadic renal carcinomas, an acquired TRC8 mutation was identified.
|
NA
|
{
"id": 11236,
"name": "RNF139",
"pos": [
54,
4
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
30,
10
]
}
|
The expression of MIF and interleukin 8 (IL-8) was evaluated in 36 high-grade gliomas (20 glioblastoma multiforme, 13 anaplastic astrocytoma, and 3 anaplastic oligoastrocytoma) and 32 low-grade gliomas (18 fibrillary astrocytoma, 5 pilocytic astrocytoma, 5 oligodendroglioma, 3 ependymoma and 1 pleomorphic xanthoastrocytoma) by immunostaining.
|
NA
|
{
"id": 268,
"name": "AMH",
"pos": [
18,
3
]
}
|
{
"id": "C0334582",
"name": "Fibrillary Astrocytoma",
"pos": [
206,
22
]
}
|
EGF-like module containing mucin-like hormone receptor 2 (EMR2) is a leukocyte-restricted adhesion G protein-coupled receptor.
|
NA
|
{
"id": 1950,
"name": "EGF",
"pos": [
0,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
90,
8
]
}
|
Consistent with this model, cells lacking RNF4 exhibited interstrand cross-linker hypersensitivity, and the gene encoding RNF4 was epistatic with the other genes encoding members of the FA/BRCA pathway.
|
NA
|
{
"id": 6047,
"name": "RNF4",
"pos": [
122,
4
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
82,
16
]
}
|
Molecular imaging of apoptosis accurately predicts trastuzumab-induced regression of HER2+ tumors and may warrant clinical exploration to predict early response to neoadjuvant trastuzumab.
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
85,
4
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
71,
10
]
}
|
All types of NCL cause progressive visual and mental decline, motor disturbance, epilepsy and behavioral changes, and lead to premature death.
|
NA
|
{
"id": 4691,
"name": "NCL",
"pos": [
13,
3
]
}
|
{
"id": "C0014544",
"name": "Epilepsy",
"pos": [
81,
8
]
}
|
Advanced glycation end products (AGE) and the receptor for advanced glycation end products (RAGE) are closely associated with colorectal cancer progression.
|
therapeutic
|
{
"id": 177,
"name": "AGER",
"pos": [
46,
44
]
}
|
{
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
126,
17
]
}
|
IRF8-deficient mice exhibit uncontrolled clonal expansion of undifferentiated myeloid cells that can progress to a fatal blast crisis, thereby resembling human chronic myelogeneous leukemia (CML).
|
biomarker
|
{
"id": 3394,
"name": "IRF8",
"pos": [
0,
4
]
}
|
{
"id": "C0005699",
"name": "Blast Phase",
"pos": [
121,
12
]
}
|
The IkappaB kinase family phosphorylates the Parkinson's disease kinase LRRK2 at Ser935 and Ser910 during Toll-like receptor signaling.
|
genomic_alterations
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
72,
5
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
45,
19
]
}
|
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
|
genomic_alterations
|
{
"id": 6323,
"name": "SCN1A",
"pos": [
14,
5
]
}
|
{
"id": "C0014544",
"name": "Epilepsy",
"pos": [
99,
8
]
}
|
US patients with schizophrenia/schizoaffective disorder (SZ/SZA, n = 331) and available parents from Pittsburgh (n = 344) were assayed for a smaller set of SNPs based on the results from the BD1 samples.
|
NA
|
{
"id": 1672,
"name": "DEFB1",
"pos": [
191,
3
]
}
|
{
"id": "C0036337",
"name": "Schizoaffective Disorder",
"pos": [
31,
24
]
}
|
Thus, amino acid changes in CX3CR1 may influence the development of atopy but not asthma in German children.
|
NA
|
{
"id": 1524,
"name": "CX3CR1",
"pos": [
28,
6
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
68,
5
]
}
|
In the present study we have examined GADD34 immunoreactivity in human myocardial tissue at defined survival times following cardiac arrest and determined alterations in expression following ischaemia.
|
NA
|
{
"id": 23645,
"name": "PPP1R15A",
"pos": [
38,
6
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
191,
9
]
}
|
The use of replication-competent adenovirus deficient of the E1B gene coupled to an AFP-targeting strategy may be a safe and efficacious treatment for HCC.
|
NA
|
{
"id": 174,
"name": "AFP",
"pos": [
84,
3
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
33,
10
]
}
|
HSP70 mRNA levels in mononuclear blood cells (MBCs) were compared in 14 CJD patients (10 confirmed by histo-pathological study), 12 vascular dementia (VD) patients, 16 patients with Parkinson's disease and dementia (PD) and 14 nondemented control subjects.
|
NA
|
{
"id": 3308,
"name": "HSPA4",
"pos": [
0,
5
]
}
|
{
"id": "C0497327",
"name": "Dementia",
"pos": [
206,
8
]
}
|
However, using Hp1-1 as a reference, children with Hp2-2 exhibited a slightly increased risk of severe malaria (odds ratio, 1.6; P = 0.04).
|
NA
|
{
"id": 23468,
"name": "CBX5",
"pos": [
15,
3
]
}
|
{
"id": "C2747816",
"name": "Complicated malaria",
"pos": [
96,
14
]
}
|
In the present study, we compared five major scavenger receptors (SR-A, CD36, CLA-1, CD68, and LOX-1) in their levels of expression at the different stages of foam cells derived from THP-1 cells.
|
NA
|
{
"id": 4973,
"name": "OLR1",
"pos": [
95,
5
]
}
|
{
"id": "C4281786",
"name": "Presence of foam cells",
"pos": [
159,
10
]
}
|
Activators of the farnesoid X receptor negatively regulate androgen glucuronidation in human prostate cancer LNCAP cells.
|
NA
|
{
"id": 9971,
"name": "NR1H4",
"pos": [
18,
20
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
93,
15
]
}
|
Inhibiting DNA methylation in CD4+ T cells causes aberrant gene expression and autoreactive monocyte/macrophage killing in vitro, and the hypomethylated cells cause a lupus-like disease in animal models.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
30,
3
]
}
|
{
"id": "C0024131",
"name": "Lupus Vulgaris",
"pos": [
167,
5
]
}
|
Interestingly, however, 3 out of 4 ATL cell lines (TL-Om1, H582, HUT102) revealed striking depression of LFA-1 expression.
|
NA
|
{
"id": 3683,
"name": "ITGAL",
"pos": [
105,
5
]
}
|
{
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
91,
10
]
}
|
Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del(12)(p13)/ETV6 was frequently involved.
|
NA
|
{
"id": 6418,
"name": "SET",
"pos": [
87,
3
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
51,
23
]
}
|
Functional variants of the MAOA-uVNTR, 5-HTTLPR, and BDNF Val66Met, either alone or in interaction with each other, may be best conceptualized as modifying sensitivity to environmental factors that confer either risk or protection for teenage delinquency.
|
genomic_alterations
|
{
"id": 627,
"name": "BDNF",
"pos": [
53,
4
]
}
|
{
"id": "C0522174",
"name": "Delinquent behavior",
"pos": [
243,
11
]
}
|
To examine if the genes encoding the pleckstrin homology domain-containing protein gene (PLEKHA1), hypothetical LOC387715/ARMS2 gene, and HtrA serine peptidase 1 gene (HTRA1) located on the long arm of chromosome 10 (10q26 region) confer risk for neovascular age-related macular degeneration (AMD) in an independent or interactive manner when controlling for complement factor H gene (CFH) genotype and smoking exposure.
|
NA
|
{
"id": 3075,
"name": "CFH",
"pos": [
385,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
403,
7
]
}
|
PlGF and VEGF, which form heterodimers if co-expressed, both are required for pathologic angiogenesis.
|
NA
|
{
"id": 5228,
"name": "PGF",
"pos": [
0,
4
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
78,
23
]
}
|
Needle biopsy samples with repeated benign diagnosis resemble BPH specimens taken by TURP in TP53 mutation frequency (TURP: 16.1%, needle biopsy: 21.2%) and later affliction by PCa (TURP: 3/32 = 9.4%, needle biopsy: 8/51 = 15.7%, p = 0.409).
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
93,
4
]
}
|
{
"id": "C1704272",
"name": "Benign Prostatic Hyperplasia",
"pos": [
62,
3
]
}
|
EML4-ALK translocations are rare events associated with specific clinicopathological features, such as never or light smoking history, young age and adenocarcinoma with signet ring or acinar histology.
|
genomic_alterations
|
{
"id": 238,
"name": "ALK",
"pos": [
5,
3
]
}
|
{
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
149,
14
]
}
|
The systemic inflammatory factors NLR, MLR, and CRP were predictive factors in nivolumab therapy for mRCC.
|
biomarker
|
{
"id": 1401,
"name": "CRP",
"pos": [
48,
3
]
}
|
{
"id": "C0278678",
"name": "Metastatic Renal Cell Cancer",
"pos": [
101,
4
]
}
|
Treatment of TFG2 cells with the specific MEKI inhibitor PD98059, or infection with a -/- MEK1 recombinant adenovirus permitted phenylephrine to increase rather than decrease [3H]thymidine incorporation.
|
NA
|
{
"id": 5604,
"name": "MAP2K1",
"pos": [
90,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
107,
10
]
}
|
Our results revealed that Nox4 was predominantly highly expressed in the endogenous cycling hypoxic areas with HIF-1 activation and blood perfusion within the solid tumor microenvironment.
|
NA
|
{
"id": 50507,
"name": "NOX4",
"pos": [
26,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
92,
7
]
}
|
The study aimed to explore the role of GST-π in Zn-induced Parkinsonism and its underlying molecular mechanism.
|
biomarker
|
{
"id": 373156,
"name": "GSTK1",
"pos": [
39,
3
]
}
|
{
"id": "C0242422",
"name": "Parkinsonian Disorders",
"pos": [
59,
12
]
}
|
CD8+ and CD20+ lymphocytes cooperate to control acute simian immunodeficiency virus/human immunodeficiency virus chimeric virus infections in rhesus monkeys: modulation by major histocompatibility complex genotype.
|
biomarker
|
{
"id": 54474,
"name": "KRT20",
"pos": [
9,
4
]
}
|
{
"id": "C0021051",
"name": "Immunologic Deficiency Syndromes",
"pos": [
61,
16
]
}
|
Mutations in p53 or high-level p16(INK4a) promoter methylation occurred in 29 of 36 (80%) patients with cancer, 3 of 24 (13%) controls, and 3 of 22 (13%) with pancreatitis.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
13,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
104,
6
]
}
|
Expression of the receptor activator of nuclear factor kappa B ligand (RANKL) in the stromal cells stimulates the monocytes to form giant multi-nucleated osteoclast-like cells, causing bone over-resorption at the tumor site.
|
NA
|
{
"id": 8600,
"name": "TNFSF11",
"pos": [
71,
5
]
}
|
{
"id": "C0017547",
"name": "Gigantism",
"pos": [
132,
5
]
}
|
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
|
genomic_alterations
|
{
"id": 8398,
"name": "PLA2G6",
"pos": [
0,
6
]
}
|
{
"id": "C0338473",
"name": "Neuroaxonal Dystrophies",
"pos": [
69,
21
]
}
|
Increased impulsivity during withdrawal from cocaine self-administration: role for DeltaFosB in the orbitofrontal cortex.
|
therapeutic
|
{
"id": 2354,
"name": "FOSB",
"pos": [
87,
4
]
}
|
{
"id": "C0600427",
"name": "Cocaine Dependence",
"pos": [
79,
3
]
}
|
Cross-sectional analysis of a bi-alleleic ApaLI RFLP of LDLR showed that the 9.4- and 6.6-kb alleles were present in similar frequency between a group of 84 Caucasian essential hypertensive (HT) and a group of 96 normotensive subjects whose parents each had a similar blood pressure status at age > or = 50.
|
NA
|
{
"id": 3949,
"name": "LDLR",
"pos": [
56,
4
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
268,
14
]
}
|
Our study demonstrated that miR-100 played an important role in pancreatic cancer development, possibly through targeting FGFR3.
|
NA
|
{
"id": 2261,
"name": "FGFR3",
"pos": [
122,
5
]
}
|
{
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
64,
17
]
}
|
Between-group comparisons showed that carriers of the CNR1 rs2023239 G allele had significantly greater activity in reward-related areas of the brain, such as the orbitofrontal cortex (OFC), inferior frontal gyrus (IFG), and anterior cingulate gyrus (ACG), during exposure to marijuana cues, as compared with those with the A/A genotype for this SNP.
|
NA
|
{
"id": 139818,
"name": "DOCK11",
"pos": [
251,
3
]
}
|
{
"id": "C0024809",
"name": "Marijuana Abuse",
"pos": [
276,
9
]
}
|
Polymorphisms within DMT1 gene do not influence penetrance of the HH phenotype.
|
genomic_alterations
|
{
"id": 4891,
"name": "SLC11A2",
"pos": [
21,
4
]
}
|
{
"id": "C0392514",
"name": "Hereditary hemochromatosis",
"pos": [
66,
2
]
}
|
To use fluorescence in situ hybridization (FISH) to visualize genetic abnormalities in interphase cell nuclei (interphase FISH) of acinar cell carcinoma, ductal adenocarcinoma, and islet cell carcinoma of the pancreas.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
122,
4
]
}
|
{
"id": "C0206685",
"name": "Acinar Cell Carcinoma",
"pos": [
131,
21
]
}
|
DPYD*2A and MTHFR C677T predict toxicity and efficacy, respectively, in patients on chemotherapy with 5-fluorouracil for colorectal cancer.
|
genomic_alterations
|
{
"id": 4524,
"name": "MTHFR",
"pos": [
12,
5
]
}
|
{
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
121,
17
]
}
|
Here, we assessed the hypothesis that angiotensin (Ang) II type I receptor antagonist telmisartan improves vascular hypertrophy by modulation of expression of profilin-1 and angiotensin-converting enzyme 2 (ACE2).
|
NA
|
{
"id": 59272,
"name": "ACE2",
"pos": [
207,
4
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
116,
11
]
}
|
Enriched in secondary acute myeloid leukemia (sAML; in comparison to high-risk MDS), FLT3, PTPN11, WT1, IDH1, NPM1, IDH2 and NRAS mutations (type 1) tended to be newly acquired, and were associated with faster sAML progression and a shorter overall survival time.
|
genomic_alterations
|
{
"id": 3418,
"name": "IDH2",
"pos": [
116,
4
]
}
|
{
"id": "C0280449",
"name": "secondary acute myeloid leukemia",
"pos": [
12,
32
]
}
|
Herein, we describe a patient with EMA and intellectual disability who carries a de novo balanced translocation: t(6;22)(p21.32;q11.21).
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
121,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
98,
13
]
}
|
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).
|
NA
|
{
"id": 7138,
"name": "TNNT1",
"pos": [
51,
10
]
}
|
{
"id": "C0007193",
"name": "Cardiomyopathy, Dilated",
"pos": [
117,
22
]
}
|
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