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|---|---|---|---|
The proteins identified were heat shock protein 90-alpha, and -beta, heterogeneous nuclear ribonucleoprotein F, RNA polymerase II-mediating protein, cytoskeletal keratin 8, cytoskeletal keratin 18, ubiquitin-conjugating enzyme E2-18 kDa and nucleoside diphosphate kinase B. | NA | {
"id": 3856,
"name": "KRT8",
"pos": [
162,
9
]
} | {
"id": "C0036974",
"name": "Shock",
"pos": [
34,
5
]
} |
Together, our analyses of sec63 mutant zebrafish highlight the possible role of ER stress in polycystic liver disease and suggest that these mutants will serve as a model for understanding the pathophysiology of this disease and other abnormalities involving ER stress. | NA | {
"id": 11231,
"name": "SEC63",
"pos": [
26,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
235,
13
]
} |
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. | genomic_alterations | {
"id": 23435,
"name": "TARDBP",
"pos": [
0,
6
]
} | {
"id": "C0338451",
"name": "Frontotemporal dementia",
"pos": [
33,
23
]
} |
of saline and served as normal control, 2nd group received single subcutaneous injection of sodium selenite 30nmol/g body weight on p10 (postpartum day 10), 3rd and 4th groups received either acetyl-l-carnitine (200mg/kg, i.p.) | NA | {
"id": 51010,
"name": "EXOSC3",
"pos": [
132,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
117,
11
]
} |
Recent data from expression microarray studies reveal that the RNase κ gene is found either up- or downregulated in a number of human cancers, indicating a possible diagnostic and/or prognostic utility.The aim of this study was to investigate modulations in the expression levels of RNase κ gene, in breast and ovarian cancer cells, as a response to treatment with different chemotherapeutic agents. | NA | {
"id": 440400,
"name": "RNASEK",
"pos": [
283,
7
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
134,
7
]
} |
Endothelin-converting enzyme-1 is responsible for biosynthesis of endothelin-1, which promotes growth and invasion of human cancers. | biomarker | {
"id": 1906,
"name": "EDN1",
"pos": [
66,
12
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
106,
8
]
} |
The role of dopamine and cAMP regulated phosphoprotein MW 32 kDa (DARPP-32) overexpression in the gastric tumorigenesis cascade remains unclear. | NA | {
"id": 84152,
"name": "PPP1R1B",
"pos": [
66,
8
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
106,
13
]
} |
We sought to characterize the TU wave complex of Andersen-Tawil syndrome type 1 (ATS1) using high frequency electrocardiogram (ECG) data. | genomic_alterations | {
"id": 1287,
"name": "COL4A5",
"pos": [
81,
4
]
} | {
"id": "C1563715",
"name": "Andersen Syndrome",
"pos": [
49,
23
]
} |
Our findings provide further evidences that the rare mutation in HOXB13 contributes to both hereditary and sporadic PCa risk. | NA | {
"id": 10481,
"name": "HOXB13",
"pos": [
65,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
107,
8
]
} |
Linkage analysis indicates that in this family the NSHL locus, (DFNB35) maps to a 17.54 cM region on chromosome 14 flanked by markers D14S57 and D14S59. | genomic_alterations | {
"id": 8556,
"name": "CDC14A",
"pos": [
64,
6
]
} | {
"id": "C0152268",
"name": "Nodular Sclerosis Classical Hodgkin Lymphoma",
"pos": [
51,
4
]
} |
The dose-related occupancy and target engagement of the GlyT1 inhibitor PF-03463275 were studied to inform optimal dose selection for a clinical trial for cognitive impairments associated with schizophrenia. | genomic_alterations | {
"id": 6536,
"name": "SLC6A9",
"pos": [
56,
5
]
} | {
"id": "C0338656",
"name": "Impaired cognition",
"pos": [
155,
21
]
} |
Histologic review of the brain tumor by immunohistochemistry confirmed focal expression of epithelial membrane antigen and smooth muscle actin. | NA | {
"id": 4582,
"name": "MUC1",
"pos": [
91,
27
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
25,
11
]
} |
Application of hot and cold stimuli to the cells also evoked rises in [Ca2+]i which could be blocked by TRP-channel antagonists. | NA | {
"id": 7306,
"name": "TYRP1",
"pos": [
104,
3
]
} | {
"id": "C0009443",
"name": "Common Cold",
"pos": [
23,
4
]
} |
After seven weeks, diabetic rats exhibited remarkable reductions in: body weight, percentage of time spent in target quadrant, number of times crossing the platform, ChAT and BDNF levels, SOD, GSH-Px and CAT accompanied with increases in neuronal damage, plasma glucose levels, escape latency, mean path length, AChE, MDA level as well as CAT, NF-κB p65 unit, TNF-α, IL-1β, IL-6 and caspase-3 in cerebral cortex and hippocampus. | NA | {
"id": 64689,
"name": "GORASP1",
"pos": [
350,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
69,
11
]
} |
We assessed cortical [(3)H]pirenzepine binding and sequenced the CHRM1 in 80 subjects with schizophrenia and 74 age sex-matched control subjects. | genomic_alterations | {
"id": 1128,
"name": "CHRM1",
"pos": [
65,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
91,
13
]
} |
The purpose of our work was to investigate the occurrence of ATM mutations in multiple myeloma and to this end we screened 45 sporadic cases for ATM mutations using denaturing high-performance liquid chromatography analysis and DNA sequencing. | NA | {
"id": 472,
"name": "ATM",
"pos": [
145,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
126,
8
]
} |
We pointed to: (i) a role of FOXE1 in controlling the expression of MSX1 and TGF-β3 relevant in craniofacial development and (ii) a causative part of FOXE1 mutations or mice Foxe1(-/-) genotype in the pathogenesis of cleft palate in the Bamforth-Lazarus syndrome. | genomic_alterations | {
"id": 7043,
"name": "TGFB3",
"pos": [
77,
6
]
} | {
"id": "C0008925",
"name": "Cleft Palate",
"pos": [
217,
12
]
} |
Additional transfection of either c-erbB-2 or mutant Ha-ras into the immortalized cells showed the anchorage-independent growth and tumorigenesis in mice with the incidence of 50% and 40%, respectively. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
34,
8
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
132,
13
]
} |
Independent somatic mutations of the p53 tumor suppressor gene and protein accumulation in different regions of the esophageal "field" might be key molecular events in multifocal esophageal carcinogenesis. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
37,
25
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
179,
10
]
} |
Our results suggest that IgG fraction from RA patients including anti-GPI Abs may play a crucial role in the generation of synovitis in monkeys, although the pathogenesis of anti-GPI Abs in RA patients is still uncertain. | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
179,
3
]
} | {
"id": "C0039103",
"name": "Synovitis",
"pos": [
123,
9
]
} |
These findings suggest that the t(7;14)(p22;q13) translocation had a crucial role in the progression to CML-AP, and that the resistance to imatinib may be due to the additional cytogenetic abnormalities, including der(17)t(1;17)(q25;p13), but not to BCR/ABL mutations. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
233,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
49,
13
]
} |
In wild-type FLG carriers (412 subjects), atopic dermatitis was present in 45 (11%), allergic rhinitis in 70 (17%) and allergic asthma in 29 (7%) students. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
13,
3
]
} | {
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
42,
17
]
} |
Cardiac myocyte-specific transgenic expression of SOCS1 inhibited enterovirus-induced signaling of JAK and the signal transducers and activators of transcription (STAT), with accompanying increases in viral replication, cardiomyopathy, and mortality in coxsackievirus-infected mice. | NA | {
"id": 8651,
"name": "SOCS1",
"pos": [
50,
5
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
220,
14
]
} |
The inhibition of PC-3 tumour growth in vivo induced by the Ad-CMV-TK/acyclovir suicide-gene system was assessed in separate and controlled experiments using human prostate cancer mouse models. | NA | {
"id": 692094,
"name": "MSMP",
"pos": [
18,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
80,
7
]
} |
The ACE D/D genotype alone or in combination with the MTHFR 677T or the APOE 4 allele or with both was highly specific for small-vessel infarction. | NA | {
"id": 348,
"name": "APOE",
"pos": [
72,
4
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
136,
10
]
} |
The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%). | genomic_alterations | {
"id": 10585,
"name": "POMT1",
"pos": [
89,
5
]
} | {
"id": "C0431376",
"name": "Cobblestone Lissencephaly",
"pos": [
33,
25
]
} |
The progesterone receptor (PR) with its isoforms and ligands are involved in breast tumorigenesis and prognosis. | NA | {
"id": 5241,
"name": "PGR",
"pos": [
4,
21
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
84,
13
]
} |
Our study demonstrated that Fam134b is an oncogene that plays a crucial role in HCC via the Akt signaling pathway with subsequent glycogen synthase kinase-3β phosphorylation, accumulation of β-catenin, and stabilization of Snail, which promotes tumorigenesis, EMT, and tumor metastasis in HCC. | biomarker | {
"id": 54463,
"name": "RETREG1",
"pos": [
28,
7
]
} | {
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
269,
16
]
} |
Musculoaponeurotic fibrosarcoma homolog A (MafA) is a β-cell-specific transcriptional activator critical to adult islet β-cell function, with MafA mutant mice manifesting symptoms associated with human type 2 diabetes. | NA | {
"id": 10219,
"name": "KLRG1",
"pos": [
142,
4
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
202,
15
]
} |
The phosphoinositide 3‑kinase membrane translocation of cerebral stroke rats pretreated with CPT at various concentrations were measured, as well as the phosphorylation of protein kinase B (AKT) and endothelial nitric oxide synthase (eNOS). | therapeutic | {
"id": 4846,
"name": "NOS3",
"pos": [
205,
33
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
62,
15
]
} |
PSA-DTs were estimated using nonlinear regression techniques. | NA | {
"id": 354,
"name": "KLK3",
"pos": [
0,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
39,
10
]
} |
Amount of annulations surrounded by CD34-positive cells was significantly decreased in pEGFP-N1-sFlt-1 transfection group, which represented decreased level of intra-plaque neovessels formation. | NA | {
"id": 947,
"name": "CD34",
"pos": [
36,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
166,
6
]
} |
HER-2/neu is expressed in human renal cell carcinoma at heterogeneous levels independently of tumor grading and staging and can be recognized by HLA-A2.1-restricted cytotoxic T lymphocytes. | therapeutic | {
"id": 2064,
"name": "ERBB2",
"pos": [
0,
9
]
} | {
"id": "C4704874",
"name": "Mammary Carcinoma, Human",
"pos": [
32,
20
]
} |
We conducted a systematic search of MEDLINE since its inception until May 2017 for articles reporting erythropoietin and haemoglobin concentrations in heart failure patients not treated with erythropoietin-stimulating agents. | biomarker | {
"id": 2056,
"name": "EPO",
"pos": [
102,
14
]
} | {
"id": "C0018801",
"name": "Heart failure",
"pos": [
151,
13
]
} |
In this study, we investigated the expression of Arg1 in granulomas of human lung tissues from patients with tuberculosis. | NA | {
"id": 383,
"name": "ARG1",
"pos": [
49,
4
]
} | {
"id": "C0018188",
"name": "Granuloma",
"pos": [
57,
10
]
} |
However, acute splenic sequestration, acute chest syndrome, nephrotic syndrome, and stroke have been reported in SCD patients following HPV B19 infection. | NA | {
"id": 59271,
"name": "EVA1C",
"pos": [
140,
3
]
} | {
"id": "C1260402",
"name": "Splenic sequestration",
"pos": [
15,
21
]
} |
To evaluate the effects of recombinant adenovirus Ad-ODC-AdoMetDCas that can simultaneously express both antisense ODC and AdoMetDC, the human lung cancer cell line A-549 was infected with Ad-ODC-AdoMetDCas or the control vector. | NA | {
"id": 4953,
"name": "ODC1",
"pos": [
192,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
39,
10
]
} |
In cancer tissues, decreased expression of annexin I was observed in 12 out of 16 well differentiated tumors, 16 out of 17 moderately differentiated tumors, and 3 out of 3 poorly differentiated tumors as compared with the corresponding normal esophageal epithelia. | NA | {
"id": 301,
"name": "ANXA1",
"pos": [
43,
9
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
243,
10
]
} |
In vivo treatment has shown that NTG-A-009 has ameliorated experimental autoimmune encephalomyelitis (EAE) and dextran sulfate sodium (DSS) induced colitis through the inhibition of Th1 and Th17 cells differentiation. | biomarker | {
"id": 4976,
"name": "OPA1",
"pos": [
33,
3
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
148,
7
]
} |
The four unrelated families harbor novel homozygous mutations in <i>MTMR2</i> (NM_016156, Family 1: c.1490dupC; p.Phe498IlefsTer2; Family 2: c.1479+1G>A; Family 3: c.1090C>T; p.Arg364Ter; Family 4: c.883C>T; p.Arg295Ter) and present with CMT4B1-related severe early-onset motor and sensory neuropathy, generalized muscle atrophy, facial and bulbar weakness, and pes cavus deformity. | genomic_alterations | {
"id": 8898,
"name": "MTMR2",
"pos": [
259,
6
]
} | {
"id": "C0579144",
"name": "Cavovarus deformity of foot",
"pos": [
383,
19
]
} |
Cerulenin, a FASN inhibitor, synergized with rapamycin to induce apoptosis and inhibit cell migration and tumorigenesis in ER/HER2-positive breast cancer cells. | NA | {
"id": 2194,
"name": "FASN",
"pos": [
13,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
106,
13
]
} |
Previously, we showed that MGAT3 reduces growth factor signaling and retards mammary tumor progression driven by the Polyoma middle T antigen (PyMT) expressed in mammary epithelium under the mouse mammary tumor virus (MMTV) promoter. | NA | {
"id": 4248,
"name": "MGAT3",
"pos": [
27,
5
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
77,
13
]
} |
Mutations in the microtubule associated protein tau (MAPT) and progranulin (PGRN) have been identified in several neurodegenerative disorders, such as frontotemporal lobar degeneration (FTLD), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS). | NA | {
"id": 875,
"name": "CBS",
"pos": [
258,
3
]
} | {
"id": "C0751072",
"name": "Frontotemporal Lobar Degeneration",
"pos": [
151,
33
]
} |
We then knocked a mutation into BRAF encoding the V600E substitution and overexpressed the GREM1 transgene; the organoids were transplanted into colons of NOG mice and growth of xenograft tumors was measured. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
32,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
188,
6
]
} |
These data suggest that β2MG is a candidate for further study as a biomarker for atherosclerosis in SLE. | biomarker | {
"id": 567,
"name": "B2M",
"pos": [
24,
4
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
81,
15
]
} |
Expression of HIF-1alpha and cleaved caspase 3 localised to necrotic areas. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
14,
10
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
60,
8
]
} |
To investigate whether S100A4 plays an important role in the invasion and metastasis of gastric cancers, we examined the gene mutations in the coding regions and expression patterns of the S100A4 in gastric adenocarcinoma in Korea. | NA | {
"id": 6275,
"name": "S100A4",
"pos": [
189,
6
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
199,
22
]
} |
We show that a frequently occurring SMO alteration encoding p.Leu412Phe is an activating mutation and that its effect on Hedgehog-pathway activity can be inhibited by arsenic trioxide (ATO), an anti-leukemia drug approved by the US Food and Drug Administration (FDA) that is currently in clinical trials for its Hedgehog-inhibitory activity. | NA | {
"id": 6608,
"name": "SMO",
"pos": [
36,
3
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
199,
8
]
} |
Notably, macrophage-specific Stk4 deletion resulted in chronic inflammation, liver fibrosis, and HCC in mice treated with a combination of diethylnitrosamine (DEN) and CCl4, along with either LPS or E. coli infection. | NA | {
"id": 6789,
"name": "STK4",
"pos": [
29,
4
]
} | {
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
77,
14
]
} |
Here we report that a first-in-class HDAC1,2 selective inhibitor and doxorubicin (a hyper-CVAD chemotherapy regimen component) impair DSB repair networks in Ph+ B-cell precursor ALL cells using common as well as distinct mechanisms. | biomarker | {
"id": 3065,
"name": "HDAC1",
"pos": [
37,
5
]
} | {
"id": "C0424295",
"name": "Hyperactive behavior",
"pos": [
84,
5
]
} |
A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. | NA | {
"id": 144568,
"name": "A2ML1",
"pos": [
58,
5
]
} | {
"id": "C0029877",
"name": "Ear Inflammation",
"pos": [
231,
6
]
} |
Fibroblasts from a man with a mild form of osteogenesis imperfecta (OI) and from his son with perinatal lethal OI (OI type II) produced normal and abnormal type I procollagen molecules. | NA | {
"id": 1278,
"name": "COL1A2",
"pos": [
156,
18
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
30,
4
]
} |
Rituximab, given weekly after tumors had reached 250 mm2, led to complete disappearance of the lymphoma within 2-3 wk. | NA | {
"id": 10687,
"name": "PNMA2",
"pos": [
53,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
30,
6
]
} |
This review will focus on recent evidence indicating that EEF1A2 is an important ovarian oncogene and that the protein elongation network can activate tumorigenesis and inhibit apoptosis. | NA | {
"id": 1917,
"name": "EEF1A2",
"pos": [
58,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
151,
13
]
} |
The objective of the present study was to examine the potential impact of a T-->C substitution at codon Leu(338) of the type I (HSD3B1) 3 beta-HSD gene on obesity, circulating hormones, and estimates of insulin, glucose, and lipid metabolism as well as blood pressure in 284 unrelated Swedish men born in 1944. | NA | {
"id": 3283,
"name": "HSD3B1",
"pos": [
128,
6
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
253,
14
]
} |
Next, we investigated if dsRNA signaling pathway involvement could be observed in MG-T, as recently observed in early-onset MG. We observed an abnormal regulation of dsRNA-sensing molecules with an increase of toll-like receptor 3 (TLR3), and a decrease of protein kinase R (PKR) and dsRNA helicases (RIG-I and MDA5) in thymoma from MG patients. | NA | {
"id": 5610,
"name": "EIF2AK2",
"pos": [
275,
3
]
} | {
"id": "C0040100",
"name": "Thymoma",
"pos": [
320,
7
]
} |
We further explored the upstream components of AIF translocation. | NA | {
"id": 9131,
"name": "AIFM1",
"pos": [
47,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
51,
13
]
} |
We observed EBP50 localization to the nucleus of human colorectal carcinoma cell lines at low cell culture densities and human primary colorectal tumors that manifested a poor clinical outcome. | biomarker | {
"id": 9368,
"name": "SLC9A3R1",
"pos": [
12,
5
]
} | {
"id": "C0009404",
"name": "Colorectal Neoplasms",
"pos": [
135,
17
]
} |
The relationship of neuroserpin and tissue plasminogen activator to Aβ plaque formation was studied further by knocking-out neuroserpin in the human amyloid precursor protein-J20 transgenic mouse. | NA | {
"id": 5274,
"name": "SERPINI1",
"pos": [
124,
11
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
71,
6
]
} |
Specifically, we characterize a symmetric and distally pronounced, late-onset muscular atrophy in transgenic mice overexpressing the EGFR ligand epigen. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
133,
4
]
} | {
"id": "C0026846",
"name": "Muscular Atrophy",
"pos": [
78,
16
]
} |
C-kit and its ligand stem cell factor: potential contribution to prostate cancer bone metastasis. | NA | {
"id": 4254,
"name": "KITLG",
"pos": [
21,
16
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
81,
15
]
} |
Simple regression analysis revealed that age, female sex, homeostasis model assessment of insulin resistance (HOMA-IR) index, systolic blood pressure, low HDL cholesterol, and high-sensitivity C-reactive protein (hs-CRP) were positively correlated with plasma resistin (P < 0.001, 0.003, <0.001, 0.004, <0.001, and 0.003, respectively). | NA | {
"id": 1401,
"name": "CRP",
"pos": [
216,
3
]
} | {
"id": "C0020649",
"name": "Hypotension",
"pos": [
135,
19
]
} |
TRAF3 knockdown abrogated JNK/AP-1 activation and prevented CD40-mediated apoptosis, whereas restoration of CD40 expression in CD40-negative carcinoma cells restored apoptotic susceptibility via the TRAF3/AP-1-dependent mechanism. | NA | {
"id": 7187,
"name": "TRAF3",
"pos": [
199,
5
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
141,
9
]
} |
This study supports that the LRRK2 G2385R variant may be a genetic risk factor for sporadic PD in the Korean population. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
29,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
92,
2
]
} |
Molecular studies using chromosome 8 microsatellites performed on parents' blood and fetal tissues revealed a maternal meiotic origin of the inv dup(8p) with deletion of the distal p23 region and duplication of the remaining 8p. | genomic_alterations | {
"id": 115482694,
"name": "H3P17",
"pos": [
181,
3
]
} | {
"id": "C3711376",
"name": "Isodicentric Chromosome 15 Syndrome",
"pos": [
141,
7
]
} |
The t(8;21) is the second most frequent translocation in acute myeloid leukemia and creates a fusion between the DNA binding domain of AML-1 and the ETO (also known as MTG8) corepressor. | NA | {
"id": 862,
"name": "RUNX1T1",
"pos": [
168,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
40,
13
]
} |
The p53 gene is rarely mutated in neuroblastoma, but codon 72 polymorphism that modulates its proapoptotic activity might influence cancer risk and clinical outcome. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
4,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
132,
6
]
} |
MTRR C524T polymorphism decreases the risk of DS in the Chinese population. | genomic_alterations | {
"id": 4552,
"name": "MTRR",
"pos": [
0,
4
]
} | {
"id": "C0013080",
"name": "Down Syndrome",
"pos": [
46,
2
]
} |
The aim of the study was to compare peripheral immune cells from obese and normal-weight women with regard to composition of immune cell subpopulations, surface expression of the chemokine receptors (CCRs) CCR2, CCR3, CCR5, and CXCR3 (chemokine (C-X-C motif) receptor 3) and cell-intrinsic migration capacity. | NA | {
"id": 729230,
"name": "CCR2",
"pos": [
206,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
82,
6
]
} |
To address possible roles of the DNA mismatch repair (MMR) system in ICC carcinogenesis, a fluorescence-labeling PCR/laser scanning technique with high sensitivity was employed to analyze genomic instability in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) in 24 fresh and 13 formalin-fixed, paraffin-embedded tissues of ICC and their corresponding normal parts. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
54,
3
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
188,
19
]
} |
Out of 15,867 patients with NSTE-ACS enrolled in the 6 registries, 2226 (14.0%) had a history of PAD. | biomarker | {
"id": 55902,
"name": "ACSS2",
"pos": [
33,
3
]
} | {
"id": "C1704436",
"name": "Peripheral Arterial Diseases",
"pos": [
97,
3
]
} |
This study aimed to determine the role of four single-nucleotide polymorphisms (SNPs) within programmed cell death 1 (PDCD1 or PD-1) gene and haplotypes defined by these SNPs in susceptibility to SLE in the Iranian population. | genomic_alterations | {
"id": 6622,
"name": "SNCA",
"pos": [
127,
4
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
196,
3
]
} |
Control of transferrin expression by β-amyloid through the CP2 transcription factor. | NA | {
"id": 7024,
"name": "TFCP2",
"pos": [
59,
3
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
39,
7
]
} |
This study was designed to assess TARC and MDC production by CD4+ T cells, including naive T cells and memory/effector T cells, purified from peripheral blood mononuclear cells in patients with asthma. | NA | {
"id": 920,
"name": "CD4",
"pos": [
61,
3
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
194,
6
]
} |
DEPDC5 variants increase fibrosis progression in Europeans with chronic hepatitis C virus infection. | NA | {
"id": 9681,
"name": "DEPDC5",
"pos": [
0,
6
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
25,
8
]
} |
We reported that ALDH2 is phosphorylated and activated by the survival kinase protein kinase C epsilon and found a strong inverse correlation between ALDH2 activity and infarct size. | NA | {
"id": 5581,
"name": "PRKCE",
"pos": [
78,
24
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
169,
7
]
} |
All of the children who harbored G. intestinalis assemblages B were symptomatic, while asymptomatic ones had only assemblage AI and AII with 50% each. | NA | {
"id": 114548,
"name": "NLRP3",
"pos": [
132,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
87,
12
]
} |
Thus, the four mutations affect CD18 differently in its capacities to support CD11/CD18 expression and adhesion. | NA | {
"id": 3689,
"name": "ITGB2",
"pos": [
83,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
103,
8
]
} |
To follow-up on the GWAS, tag SNPs across PFKFB2 were genotyped in American Indians (AI) who had longitudinal data on BMI (n = 6839), type 2 diabetes (T2D; n = 7710), diabetic nephropathy (DN; n = 2452), % body fat (n = 555) and insulin secretion (n = 298). | NA | {
"id": 5208,
"name": "PFKFB2",
"pos": [
42,
6
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
167,
20
]
} |
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation. | NA | {
"id": 2876,
"name": "GPX1",
"pos": [
72,
24
]
} | {
"id": "C0018995",
"name": "Hemochromatosis",
"pos": [
296,
15
]
} |
Our study revealed pronounced CXCL13 elevations in CSF of patients with severe disease courses of bacterial and viral neuroinfections. | biomarker | {
"id": 10563,
"name": "CXCL13",
"pos": [
30,
6
]
} | {
"id": "C0870953",
"name": "neuroinfections",
"pos": [
118,
15
]
} |
A functional interleukin-1 beta gene polymorphism is associated with chronic periodontitis in a sample of Brazilian individuals. | genomic_alterations | {
"id": 3553,
"name": "IL1B",
"pos": [
13,
18
]
} | {
"id": "C0266929",
"name": "Chronic Periodontitis",
"pos": [
69,
21
]
} |
At hypoxia (5% O2), IDH2-related and unrelated (13)C-accumulation into citrate and malate increased 1.5-2.5-fold with unchanged IDH2 expression; whereas hypoxic 2HG formation did not. | NA | {
"id": 3418,
"name": "IDH2",
"pos": [
128,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
153,
7
]
} |
Autocrine growth of small cell lung cancer mediated by coexpression of c-kit and stem cell factor. | NA | {
"id": 4254,
"name": "KITLG",
"pos": [
81,
16
]
} | {
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
20,
22
]
} |
SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis. | NA | {
"id": 8878,
"name": "SQSTM1",
"pos": [
0,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
49,
8
]
} |
We assessed the MMP-7-181 and CMA/B polymorphisms in H. pylori-positive patients with gastric cancer (n = 160), gastric ulcer (n = 157), duodenal ulcer (n = 121), and H. pylori-positive gastritis alone as controls (n = 156). | genomic_alterations | {
"id": 4316,
"name": "MMP7",
"pos": [
16,
5
]
} | {
"id": "C0038358",
"name": "Gastric ulcer",
"pos": [
112,
13
]
} |
Reported differences in insulin sensitivity between ACE genotypes were not found in this study under strict regulation of sodium intake. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
52,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
24,
19
]
} |
Several groups have shown that FUS binds broadly to many transcripts in the brain and have also identified a plethora of putative splice targets; however, only ABLIM1, BRAF, Ewing sarcoma protein R1 (EWSR1), microtubule-associated protein tau (MAPT), NgCAM cell adhesion molecule (NRCAM), and netrin G1 (NTNG1) have been identified in at least three of four studies. | NA | {
"id": 3983,
"name": "ABLIM1",
"pos": [
160,
6
]
} | {
"id": "C0232370",
"name": "Florid red complexion (finding)",
"pos": [
109,
8
]
} |
Our findings suggest that miR-638 plays an important role in TNBC progression via BRCA1 deregulation. | biomarker | {
"id": 693223,
"name": "MIR638",
"pos": [
26,
7
]
} | {
"id": "C4722518",
"name": "Triple-Negative Breast Carcinoma",
"pos": [
61,
4
]
} |
Increased PAFAH and oxidized lipids are associated with inflammation and atherosclerosis in hypercholesterolemic pigs. | NA | {
"id": 5048,
"name": "PAFAH1B1",
"pos": [
10,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
56,
12
]
} |
A review of a series of 30 primary and metastatic prostatic carcinomas clinically sequenced at our cancer genomics laboratory utilizing a targeted gene panel identified recurrent structural variants in the TP53 gene. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
206,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
99,
6
]
} |
Several studies have investigated the association of a promoter polymorphism in CD14 with atopic phenotypes. | NA | {
"id": 929,
"name": "CD14",
"pos": [
80,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
90,
6
]
} |
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. | genomic_alterations | {
"id": 5261,
"name": "PHKG2",
"pos": [
59,
5
]
} | {
"id": "C1291390",
"name": "Deficiency of phosphorylase kinase",
"pos": [
26,
31
]
} |
Mantle cell lymphoma is an aggressive, non-curable B-cell lymphoma, characterized by the translocation t(11;14)(q13;q32) involving CCND1 and a high number of additional genetic alterations. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
131,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
89,
13
]
} |
It has been proposed that the lack of intracellular calcium concentration ([Ca2+]i) increase induced by the potassium channel blocker tetraethylammonium (TEA) in skin fibroblast cell lines identifies patients with both sporadic and familial Alzheimer's disease (AD). | NA | {
"id": 760,
"name": "CA2",
"pos": [
76,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
219,
8
]
} |
Molecular genetic analysis of ESR1 gene polymorphism in 50 women with PMS (25 women of them had edematous form of disease, 25 - neuropsychical, 25 - mild, 25 - severe form) was carried out. | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
30,
9
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
96,
9
]
} |
The aim of the present study was to explore new insights regarding the potential role of LCN2 in inducing epithelial to mesenchymal transition (EMT) by transfecting LCN2 into CD133+-A549-TICSCs and its cross-talk with the NF-κB signaling pathway in adenocarcinoma of the lung. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
222,
5
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
249,
26
]
} |
The PTRF gene should be investigated in patients with hyperCKemia, mild myopathy associated with spontaneous or percussion-induced muscle contractions like rippling or mounding, and no CAV3 mutation. | NA | {
"id": 859,
"name": "CAV3",
"pos": [
185,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
67,
4
]
} |
At the beginning adiponectin was not increased in HSS patients (p = .56), and only marginally elevated in LSS patients (p = 0.07) compared with controls. | biomarker | {
"id": 9370,
"name": "ADIPOQ",
"pos": [
17,
11
]
} | {
"id": "C1851100",
"name": "LAURIN-SANDROW SYNDROME",
"pos": [
106,
3
]
} |
In colorectal tumors, this down-regulation is associated with loss of heterozygosity occurring within UNC5A, UNC5B, and UNC5C genes but may also be partially related to epigenetic processes because histone deacetylase inhibitor increased UNC5C expression in various cancer cell lines. | NA | {
"id": 90249,
"name": "UNC5A",
"pos": [
102,
5
]
} | {
"id": "C0009404",
"name": "Colorectal Neoplasms",
"pos": [
3,
17
]
} |
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