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|---|---|---|---|
Three patients with SOS1 mutations presented with tumors (embryonal rhabdomyosarcoma, Sertoli cell testis tumor, and granular cell tumors of the skin). | genomic_alterations | {
"id": 6654,
"name": "SOS1",
"pos": [
20,
4
]
} | {
"id": "C0085167",
"name": "Granular cell tumor",
"pos": [
117,
20
]
} |
This is the first report of a secreted growth factor from a parasitic worm that induces proliferation of host cells, and supports a role for this fluke protein in establishment of a tumorigenic environment that may ultimately manifest as cholangiocarcinoma. | biomarker | {
"id": 7472,
"name": "WNT2",
"pos": [
30,
22
]
} | {
"id": "C0206698",
"name": "Cholangiocarcinoma",
"pos": [
238,
18
]
} |
Fifty-one of 51 tumors with a single copy of MYCN were also correctly identified by PCR. | genomic_alterations | {
"id": 4613,
"name": "MYCN",
"pos": [
45,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
16,
6
]
} |
This suggests a cell type-specific reliance on Wip1 for tumorigenesis, because alveolar progenitor cells are the likely target for transformation in the MMTV(mouse mammary tumor virus)-neu but not MMTV-wnt1 breast cancer model. | NA | {
"id": 8493,
"name": "PPM1D",
"pos": [
47,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
56,
13
]
} |
Annualized median liver growth rates were 1.68, 1.5 and 1.24% for PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV. | genomic_alterations | {
"id": 5311,
"name": "PKD2",
"pos": [
86,
4
]
} | {
"id": "C0085413",
"name": "Polycystic Kidney, Autosomal Dominant",
"pos": [
158,
5
]
} |
To interrogate cellular heterogeneity in mouse glioma models, we utilized a replication-competent avian sarcoma-leukosis virus long terminal repeat with splice acceptor/tumor virus A (RCAS-tva) system to generate spontaneous mouse gliomas that contained a Sox2-enhanced green fluorescent protein (EGFP) reporter. | NA | {
"id": 6657,
"name": "SOX2",
"pos": [
256,
4
]
} | {
"id": "C0004426",
"name": "Sarcoma, Avian",
"pos": [
98,
13
]
} |
This study investigated the function and mechanism of lipid metabolism-related acetyl-CoA synthetase 2 (ACSS2) in RCC development, cell migration and invasion. | biomarker | {
"id": 55902,
"name": "ACSS2",
"pos": [
104,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
150,
8
]
} |
Collectively, this study demonstrates Csn3 as an oncogene that regulates the tumorigenesis process in HCC cells. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
102,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
77,
13
]
} |
Gab-1.PI 3-kinase-CD44v3 association, PI 3-kinase-mediated AKT activation, and M-CSF production) and tumor cell behaviors (e.g. cell growth, survival, and invasion). | biomarker | {
"id": 128869,
"name": "PIGU",
"pos": [
0,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
155,
8
]
} |
In this study, we used the prototypical RIP-Tag model of multistage pancreatic islet tumorigenesis to show that the nuclear receptor COUP-TFII is essential to regulate the balance between pro- and anti-angiogenic molecules that influence the angiogenic switch in cancer. | NA | {
"id": 7026,
"name": "NR2F2",
"pos": [
133,
9
]
} | {
"id": "C1510885",
"name": "Angiogenic Switch",
"pos": [
242,
17
]
} |
XP-V cells UV-irradiated at mid-S phase were normally S-arrested, and no "override" by caffeine (i.e. | NA | {
"id": 5429,
"name": "POLH",
"pos": [
0,
4
]
} | {
"id": "C0236734",
"name": "Caffeine related disorders",
"pos": [
87,
8
]
} |
Higher induction apoptosis than wild-type p53 makes A276S an attractive candidate for therapy to eradicate cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
42,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
107,
6
]
} |
Because the potential role of ECP in the inhibition of surfactant function is not known, we tested the hypothesis of whether ECP levels in bronchoalveolar lavage fluid (BALF) of patients with asthma after segmental allergen provocation correlate to surfactant dysfunction. | NA | {
"id": 6037,
"name": "RNASE3",
"pos": [
125,
3
]
} | {
"id": "C3711368",
"name": "Surfactant Dysfunction",
"pos": [
249,
22
]
} |
Significant CD8+ and/or CD4+ MART-1-specific T-cell responses were observed in 6/11 and 2/4 patients evaluated, respectively, indicating that the E1-deleted adenovirus encoding the cDNA for MART-1/Melan-A (AdVMART1)/DC vaccine activated both helper and killer T cells in vivo. | NA | {
"id": 920,
"name": "CD4",
"pos": [
24,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
157,
10
]
} |
In addition, the activity of IL-6 and LIF signaling pathways may be influenced by increased expression of their receptors after seizures. | NA | {
"id": 3976,
"name": "LIF",
"pos": [
38,
3
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
128,
8
]
} |
This report on TAP gene polymorphisms in dengue suggested that among the primary-infected individuals, homozygous patterns for Ile at TAP1(333) Val at TAP2(379) loci and Asp at TAP1(637) were found to be a protective factor against development of DHF and DSS, respectively. | genomic_alterations | {
"id": 6891,
"name": "TAP2",
"pos": [
151,
4
]
} | {
"id": "C1848296",
"name": "DOSAGE-SENSITIVE SEX REVERSAL",
"pos": [
255,
3
]
} |
miR-143 inhibits tumor progression by targeting FAM83F in esophageal squamous cell carcinoma. | NA | {
"id": 113828,
"name": "FAM83F",
"pos": [
48,
6
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
17,
17
]
} |
Parental FISH analysis revealed that the translocation occurred de novo. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
9,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
41,
13
]
} |
CONCLUSION: Our results suggest a genetically influenced higher propensity for alcohol drinking among social drinkers carrying the 118G allele of the OPRM1 gene. | NA | {
"id": 4988,
"name": "OPRM1",
"pos": [
150,
10
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
79,
16
]
} |
Synergically increased expression of CD36, CLA-1 and CD68, but not of SR-A and LOX-1, with the progression to foam cells from macrophages. | NA | {
"id": 4481,
"name": "MSR1",
"pos": [
70,
4
]
} | {
"id": "C4281786",
"name": "Presence of foam cells",
"pos": [
110,
10
]
} |
HLA-DR-, CD33+, CD56+, CD16- myeloid/natural killer cell acute leukemia: a previously unrecognized form of acute leukemia potentially misdiagnosed as French-American-British acute myeloid leukemia-M3. | NA | {
"id": 2214,
"name": "FCGR3A",
"pos": [
23,
4
]
} | {
"id": "C0085669",
"name": "Acute leukemia",
"pos": [
107,
14
]
} |
Pelvic pain was not abolished in NOD-IFN-γ-KO mice but was associated with an enhanced IL-17A immune response to CP1 infection. | biomarker | {
"id": 3605,
"name": "IL17A",
"pos": [
87,
6
]
} | {
"id": "C1868112",
"name": "Crossed Polydactyly, Type I",
"pos": [
113,
3
]
} |
Using FISH as gold standard, MLPA showed a sensitivity of 90% (36/40) and a specificity of 100% (31/31) in detecting amplification of MDM2 and CDK4 in lipomatous soft tissue tumors. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
6,
4
]
} | {
"id": "C0037579",
"name": "Soft Tissue Neoplasms",
"pos": [
162,
18
]
} |
GSTP1 Val105/Val105 and Ala114/Val114 genotypes in the child were associated with non-significant increases in lung function (forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC) and the FEV1/FVC ratio). | NA | {
"id": 2950,
"name": "GSTP1",
"pos": [
0,
5
]
} | {
"id": "C0042834",
"name": "Vital capacity",
"pos": [
178,
14
]
} |
Foxn1 was focally expressed in 13% of cutaneous squamous cell carcinoma and completely negative in cutaneous basal cell carcinoma, whereas it was completely negative in squamous cell carcinoma from head and neck, esophagus and uterine cervix, and normal tissue and malignant neoplasms from all other organs other than thymus. | NA | {
"id": 8456,
"name": "FOXN1",
"pos": [
0,
5
]
} | {
"id": "C0007117",
"name": "Basal cell carcinoma",
"pos": [
109,
20
]
} |
We found five heterozygous PAX2 gene mutations: a dinucleotide insertion (2G) at position 619 in one sporadic RCS case, a single nucleotide insertion (619 + G) in three unrelated cases, and a single nucleotide deletion in a familial case. | NA | {
"id": 10777,
"name": "ARPP21",
"pos": [
110,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
101,
8
]
} |
DNA was extracted from specimens of TSA, TA, SCa and Ca, v-raf murine sarcoma viral oncogene homolog B (BRAF) V600E mutation and microsatellite instability (MSI) (assay for BAT25 and BAT26) were analyzed. | NA | {
"id": 7001,
"name": "PRDX2",
"pos": [
36,
3
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
129,
26
]
} |
PIM inhibited LPS/TLR4-induced NFkappaB translocation. | NA | {
"id": 7099,
"name": "TLR4",
"pos": [
18,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
40,
13
]
} |
STAT2 deficiency has been described in 5 family members and is characterized by selective susceptibility to viral infections, whereas STAT3 loss-of-function (LOF) mutations are causative of the autosomal-dominant hyper-IgE syndrome (HIES), a condition that is characterized by cutaneous and respiratory infections in association with mucocutaneous candidiasis, eczema, skeletal and connective tissue abnormalities, eosinophilia, and high levels IgE. | genomic_alterations | {
"id": 6773,
"name": "STAT2",
"pos": [
0,
5
]
} | {
"id": "C0006848",
"name": "Mucocutaneous candidiasis",
"pos": [
334,
25
]
} |
Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype. | NA | {
"id": 6955,
"name": "TRA",
"pos": [
24,
4
]
} | {
"id": "C0917799",
"name": "Hypersomnia",
"pos": [
71,
11
]
} |
In summary, we found that p53 mutations occurred mainly during the transition from low-grade to high-grade dysplasia in the neoplastic progression of Barrett's esophagus but not in the nondysplastic Barrett's mucosa. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
26,
3
]
} | {
"id": "C0004763",
"name": "Barrett Esophagus",
"pos": [
150,
19
]
} |
CONCLUSIONS AND IMPLICATIONS: Overall, we found a novel sensory TRP acting metabolite and suggest that its use may help to elucidate the physiological role of TRPV4 in nociception and associated inflammation. | NA | {
"id": 59341,
"name": "TRPV4",
"pos": [
159,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
195,
12
]
} |
SVR rates in the two groups were comparable in all patient sub-groups according to factors like viral load (≤ or > 400,000 IU/mL), RVR (achieved/not achieved), age (≤ or > 40 years), body mass index (≤ or > 27) and cirrhosis (present/absent). | NA | {
"id": 9975,
"name": "NR1D2",
"pos": [
131,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
183,
15
]
} |
The miRNA network demonstrated that hsa‑miR‑4488, hsa‑miR‑196a‑5p, and hsa‑miR‑549a had a high degree and may be involved with the pathogenesis and potential therapeutic targets of HD. | biomarker | {
"id": 100616470,
"name": "MIR4488",
"pos": [
36,
12
]
} | {
"id": "C0020179",
"name": "Huntington Disease",
"pos": [
181,
2
]
} |
The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to tuberculosis in the Indian population. | NA | {
"id": 26191,
"name": "PTPN22",
"pos": [
4,
6
]
} | {
"id": "C0429908",
"name": "Susceptibility to tuberculosis",
"pos": [
60,
30
]
} |
The tumor was near-tetraploid and the clonal structural chromosomal abnormalities included add(7)(p13), add(22)(q13), markers, and double minutes. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
98,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
4,
5
]
} |
CFTR is a tumor suppressor gene in murine and human intestinal cancer. | biomarker | {
"id": 1080,
"name": "CFTR",
"pos": [
0,
4
]
} | {
"id": "C0346627",
"name": "Intestinal Cancer",
"pos": [
52,
17
]
} |
However, HDLS had greater improvements in the mental domains, perhaps indicating the responsiveness of the mental disability to surgical treatment. | biomarker | {
"id": 1436,
"name": "CSF1R",
"pos": [
9,
4
]
} | {
"id": "C1306341",
"name": "Mental handicap",
"pos": [
107,
17
]
} |
The effect of conventional risk factors on the relationship between phenotype-disease and genotype-disease was analysed by two-way and three-way interaction analysis and by the classification and regression trees (CART) model. | NA | {
"id": 9607,
"name": "CARTPT",
"pos": [
214,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
196,
10
]
} |
To evaluate CAG repeat expansion of androgen receptor (AR) gene in patients with nonprogressive juvenile-onset SMA. | NA | {
"id": 367,
"name": "AR",
"pos": [
36,
17
]
} | {
"id": "C3839460",
"name": "Nonprogressive",
"pos": [
81,
14
]
} |
The C(-55) variant, in the presence of increased adiposity, might reduce plasma ANP through increased NPRC-mediated ANP clearance, contributing to higher blood pressure. | NA | {
"id": 4878,
"name": "NPPA",
"pos": [
116,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
154,
14
]
} |
Multiple mutations damaged functionally important and breast cancer-related genes, including transcriptional factor BPTF and FOXP1, ubiquitin ligase CUL4B, phosphorylase kinase PHKG2, and nuclear receptor activator SRA1. | NA | {
"id": 2186,
"name": "BPTF",
"pos": [
116,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
54,
13
]
} |
A role for BRCA1 in the pathoetiology of sporadic ovarian epithelial cancer (OEC) development has been suggested, although spontaneous mutations of the BRCA1 gene in this disease are uncommon. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
152,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
41,
8
]
} |
Younger siblings showed drusen-like deposits with focal relatively increased FAF in the macular area. | NA | {
"id": 2188,
"name": "FANCF",
"pos": [
77,
3
]
} | {
"id": "C1260959",
"name": "Drusen",
"pos": [
24,
6
]
} |
This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
293,
4
]
} | {
"id": "C0745730",
"name": "Multiple lipomata",
"pos": [
153,
16
]
} |
Thus, it is possible that BART and ANX7 can distinctly regulate the downstream signaling of PKCα that is potentially relevant to cell invasion by acting as anti-invasive molecules. | biomarker | {
"id": 5578,
"name": "PRKCA",
"pos": [
92,
4
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
134,
8
]
} |
Western blotting and immunohistochemistry were used to investigate the expression of estrogen receptor, progesterone receptor, HER2, AKT, and 4EBP1 proteins in 27 atrophic endometria, 31 grade 1 and 24 grade 3 endometrioid endometrial cancers, and 19 malignant mixed müllerian tumors. | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
85,
17
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
163,
8
]
} |
The inhibitory activity of the analogs on tumor proliferation in vitro was tested in several human cancer cell lines such as HEC-1A endometrial adenocarcinoma, HCT-15 colorectal adenocarcinoma, and LNCaP prostatic carcinoma. | biomarker | {
"id": 10403,
"name": "NDC80",
"pos": [
125,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
42,
5
]
} |
Mutant allele-specific imbalance modulates prognostic impact of KRAS mutations in colorectal adenocarcinoma and is associated with worse overall survival. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
64,
4
]
} | {
"id": "C1319315",
"name": "Adenocarcinoma of large intestine",
"pos": [
82,
25
]
} |
Diabetic M1 BMM had their LC3 vesicle-bound content diminished and M2 BMM enhanced their LC3 levels and insulin treatment failed to rescue autophagy to control levels. | NA | {
"id": 84557,
"name": "MAP1LC3A",
"pos": [
89,
3
]
} | {
"id": "C3814530",
"name": "Skin Vesicle",
"pos": [
30,
7
]
} |
Furthermore, TBG triggered the collapse of F-actin filaments in breast cancer. | biomarker | {
"id": 60,
"name": "ACTB",
"pos": [
45,
5
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
64,
13
]
} |
We aimed to investigate whether there are any expression abnormalities and/or gene polymorphisms of SDC4 and NRP1 associated with venous leg ulcer. | NA | {
"id": 6385,
"name": "SDC4",
"pos": [
100,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
57,
13
]
} |
Stimulation of dendritic cells (DCs) with anti-CD40 or CD40L led to translocation of c-Rel into the nucleus resulting in induction of expression of interleukin-12 (IL-12) and IL-23, key regulators of innate cell-induced colitis. | NA | {
"id": 5966,
"name": "REL",
"pos": [
85,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
68,
13
]
} |
Gremlin-mediated decrease in bone morphogenetic protein signaling promotes pulmonary fibrosis. | therapeutic | {
"id": 655,
"name": "BMP7",
"pos": [
29,
28
]
} | {
"id": "C0034069",
"name": "Pulmonary Fibrosis",
"pos": [
75,
18
]
} |
In our previous study, the recombinant adenovirus expressing wild-type p27(kip1) (Adp27-wt) induced cell cycle arrest and apoptosis, and proved that p27 is a tumor suppressor gene like p53. | NA | {
"id": 1027,
"name": "CDKN1B",
"pos": [
75,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
39,
10
]
} |
Because AngII increases hepatic serum amyloid A (SAA) expression in an IL-6-dependent manner, we treated wild-type mice with rhIL-6 and an SAA1-overexpressing adenovirus; the combination led to a significantly greater increase in SOCS3 and decrease in IRS-1 compared with either rhIL-6 or SAA1 alone. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
230,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
159,
10
]
} |
We observed that the expression level of HIF-1alpha mRNA and its protein were correlated with the degree of hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
41,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
108,
7
]
} |
These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement. | genomic_alterations | {
"id": 847,
"name": "CAT",
"pos": [
321,
8
]
} | {
"id": "C0003076",
"name": "Aniridia",
"pos": [
190,
8
]
} |
TS pathology is caused by mutations in tuberous sclerosis complex (TSC) genes and is associated with insulin resistance, decreased glycogen synthase kinase 3β (GSK3β) activity, activation of the mammalian target of rapamycin complex 1 (mTORC1), and subsequent increase in protein synthesis. | genomic_alterations | {
"id": 6559,
"name": "SLC12A3",
"pos": [
67,
3
]
} | {
"id": "C0040963",
"name": "Tricuspid Valve Stenosis",
"pos": [
0,
2
]
} |
CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis. | genomic_alterations | {
"id": 1282,
"name": "COL4A1",
"pos": [
56,
6
]
} | {
"id": "C0023520",
"name": "Leukodystrophy",
"pos": [
100,
14
]
} |
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. | NA | {
"id": 6469,
"name": "SHH",
"pos": [
50,
3
]
} | {
"id": "C0857439",
"name": "Pituitary hormone deficiency",
"pos": [
93,
28
]
} |
In systolic HF, the downregulation of SERCA2a (sarcoplasmic-endoplasmic reticulum calcium ATPase), along with an increased BNIP3 expression, further worsen myocardial diastolic and systolic function and contribute to the major remodeling seen in systolic HF as compared with diastolic HF with normal SERCA2a expression. | therapeutic | {
"id": 664,
"name": "BNIP3",
"pos": [
123,
5
]
} | {
"id": "C0018801",
"name": "Heart failure",
"pos": [
12,
2
]
} |
Microtubule-associated protein-tau is a bifunctional predictor of endocrine sensitivity and chemotherapy resistance in estrogen receptor-positive breast cancer. | biomarker | {
"id": 4137,
"name": "MAPT",
"pos": [
0,
34
]
} | {
"id": "C2938924",
"name": "Oestrogen receptor positive breast cancer",
"pos": [
119,
40
]
} |
IFNβ, a key upstream regulator of the IFN response, was significantly increased in DICER1 knockdowns in the AN3CA, Ishikawa, and KLE endometrial cancer cell lines and in the normal endometrial cell line EM-E6/E7/TERT. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
38,
3
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
133,
18
]
} |
Magnetic resonance image (MRI) study showed marked linear signal abnormalities in white matter of parietoocctipital lobes, suggesting a presence of cortical amyloid angiopathy of the patient with PS-1 gene mutation. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
26,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
65,
13
]
} |
Finally, we summarize phenotypic and genetic data of known MLA cases showing that our case has some unique features (Chiari II malformation; focal neuropathological alterations) that could be part of the variable phenotype of SMOC1-associated diseases. | genomic_alterations | {
"id": 64093,
"name": "SMOC1",
"pos": [
226,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
127,
12
]
} |
In studying the sensitivity of the cell lines to dFdC, conditionally replicative adenovirus (CRAd) ZD55-dNKmut showed higher expression and enzymatic activity than the replication-defective adenovirus Ad-dNKmut in cancer cells, but with less cytotoxicity to cancer cells than that of Ad-dNKmut. | NA | {
"id": 57482,
"name": "CRACD",
"pos": [
93,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
190,
10
]
} |
Krüppel-like factor 5 (KLF5) regulates many factors involved in cell cycle, migration, inflammation, angiogenesis and stemness and has cancer-promoting effects in some cancers. | NA | {
"id": 688,
"name": "KLF5",
"pos": [
23,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
87,
12
]
} |
Blockade of Rac1 activation with ectopic expression of an inactive mutant form of Rac1 (T17N) or Rac1 siRNA downregulated hypoxia-induced HIF-1α and VEGF expression. | NA | {
"id": 5879,
"name": "RAC1",
"pos": [
97,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
122,
7
]
} |
Expression of endothelial nitric oxide synthase and vascular endothelial growth factor in association with neovascularization in human primary astrocytoma. | NA | {
"id": 4846,
"name": "NOS3",
"pos": [
14,
33
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
107,
18
]
} |
Furthermore, with the aids of 5'-deletion and site-directed mutagenesis, we demonstrate that Sp1 binding sites, ranging from -64 to -84 bp, are essential for As2O3- or EGF-regulated p21 expression. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
182,
3
]
} | {
"id": "C0001175",
"name": "Acquired Immunodeficiency Syndrome",
"pos": [
22,
4
]
} |
CRIP2 reexpression functionally suppresses in vivo tumorigenesis and angiogenesis; these effects are induced by its transcription-repressor capability. | NA | {
"id": 1397,
"name": "CRIP2",
"pos": [
0,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
51,
13
]
} |
Elevated serum S100B was significantly attenuated by MK-801, correlating significantly with long-term beneficial effects of MK-801 on infarct volumes and neurological outcomes. | NA | {
"id": 6285,
"name": "S100B",
"pos": [
15,
5
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
134,
7
]
} |
MicroRNA-21 promotes cell proliferation and down-regulates the expression of programmed cell death 4 (PDCD4) in HeLa cervical carcinoma cells. | NA | {
"id": 27250,
"name": "PDCD4",
"pos": [
102,
5
]
} | {
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
117,
18
]
} |
Hyperinsulinemic-euglycemic clamp studies reveal that the maintenance of insulin sensitivity with CGI-58 ASO treatment could entirely be attributed to protection from lipid-induced hepatic insulin resistance, despite the apparent lipotoxic conditions. | NA | {
"id": 51099,
"name": "ABHD5",
"pos": [
98,
6
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
73,
19
]
} |
In patients with systemic vasculitis the presence of any antibodies against neutrophil cytoplasmic antigens (ANCA) was associated with an increased frequency of DR8 [p < 0.004], and no patients expressed the DR5 antigen. | NA | {
"id": 8795,
"name": "TNFRSF10B",
"pos": [
209,
3
]
} | {
"id": "C0264939",
"name": "Systemic Vasculitis",
"pos": [
18,
19
]
} |
Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
45,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
90,
23
]
} |
Collectively, these results suggest that osteocalcin and bone sialoprotein expression is coordinated and regulated through cAMP-dependent PKA signaling, which may define the molecular basis of the osteomimicry exhibited by prostate cancer cells. | NA | {
"id": 3381,
"name": "IBSP",
"pos": [
57,
17
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
223,
15
]
} |
FET-alpha cells did not metastasize to the liver, but showed lung metastasis in 10% of the animals, whereas CBS cells gave rise to metastasis in 65%. | NA | {
"id": 875,
"name": "CBS",
"pos": [
108,
3
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
61,
15
]
} |
Effects of the vitamin E in catalase activities in hippocampus after status epilepticus induced by pilocarpine in Wistar rats. | therapeutic | {
"id": 847,
"name": "CAT",
"pos": [
28,
8
]
} | {
"id": "C0751524",
"name": "Simple Partial Status Epilepticus",
"pos": [
69,
18
]
} |
Glucokinase activators (GKAs) are currently being developed as new therapies for type 2 diabetes and have been shown to enhance beta cell survival and proliferation in vitro. | therapeutic | {
"id": 2645,
"name": "GCK",
"pos": [
0,
11
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
81,
15
]
} |
In invasive tumors, these abnormalities were even higher, with 79% reduction or absence of Fhit immunostaining and 76% FHIT allele loss. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
119,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
26,
13
]
} |
Such association between blood pressure and ALDH2 enzymatic activity may be affected by the interplay between gene and environment, such as life style and ethnicity. | NA | {
"id": 217,
"name": "ALDH2",
"pos": [
44,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
25,
14
]
} |
Low expression of PIDD is associated with cell proliferation and apoptosis in hepatocellular carcinoma. | NA | {
"id": 55367,
"name": "PIDD1",
"pos": [
18,
4
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
78,
24
]
} |
NCX protein expression was evaluated at different time points in the ischemic temporoparietal cortex of rats subjected to ischemia alone, to ischemic preconditioning alone, or to ischemic preconditioning plus ischemia. | NA | {
"id": 3196,
"name": "TLX2",
"pos": [
0,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
209,
8
]
} |
High expression of cyclin E and G1 CDK and loss of function of p57KIP2 are involved in proliferation of malignant sporadic adrenocortical tumors. | NA | {
"id": 898,
"name": "CCNE1",
"pos": [
19,
8
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
114,
8
]
} |
Lower lid epiblepharon was assessed preoperatively using a morphological classification (class I-IV) according to the horizontal skin fold height and a functional classification (grade 0-3) according to the severity of keratopathy. | biomarker | {
"id": 80316,
"name": "PPP1R2C",
"pos": [
95,
4
]
} | {
"id": "C0344503",
"name": "Congenital epiblepharon",
"pos": [
10,
12
]
} |
The purpose of this study was to investigated the effects of the LFA-1 antagonist, lifitegrast, in a mouse desiccating stress (DS) dry eye model that develops KCS similar to Sjögren syndrome. | genomic_alterations | {
"id": 3689,
"name": "ITGB2",
"pos": [
65,
5
]
} | {
"id": "C0022575",
"name": "Keratoconjunctivitis Sicca",
"pos": [
159,
3
]
} |
Association analysis of HTR6 and HTR2A polymorphisms in sporadic Alzheimer's disease. | NA | {
"id": 3362,
"name": "HTR6",
"pos": [
24,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
56,
8
]
} |
However, no association between office blood pressure and CD300LG genotype was detected in the genetic-epidemiological study. | NA | {
"id": 146894,
"name": "CD300LG",
"pos": [
58,
7
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
39,
14
]
} |
Eligible participants were adults with stage IIIB/IV lung adenocarcinoma and exon 19/21 EGFR mutations. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
88,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
53,
19
]
} |
Gene polymorphisms, including those recently described in the claudin2 gene, have been implicated in recurrent acute (RAP) and chronic pancreatitis (CP). | NA | {
"id": 4043,
"name": "LRPAP1",
"pos": [
118,
3
]
} | {
"id": "C0149521",
"name": "Pancreatitis, Chronic",
"pos": [
127,
20
]
} |
However, the demonstration that LCH cells are clonal, along with the recent discovery of activating BRAF mutations in LCH cells, strongly suggests that LCH is a neoplastic disease. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
100,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
161,
18
]
} |
The tested material was mitochondrial DNA (mtDNA) isolated from specimens of ductal carcinoma (carcinoma ductale) Tp1-2Np0-1Mp0, blood and non-cancerous tissue of mammary gland (control), sampled from 50 patients who had been operated for breast cancer. | NA | {
"id": 7011,
"name": "TEP1",
"pos": [
114,
3
]
} | {
"id": "C1176475",
"name": "Ductal Carcinoma",
"pos": [
77,
16
]
} |
Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. | biomarker | {
"id": 958,
"name": "CD40",
"pos": [
92,
3
]
} | {
"id": "C0152264",
"name": "Familial erythrocytosis",
"pos": [
113,
21
]
} |
First, we show that hypoxic upregulation of HIF-1α protein levels and activity involves both the PI3K/Akt/mTOR and p44/42 MAPK pathways. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
97,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
20,
7
]
} |
Inhibiting AKT or preventing SIRT6 phosphorylation by mutating Ser(338) prevented the degradation of SIRT6 mediated by MDM2, suppressed the proliferation of breast cancer cells in culture, and inhibited the growth of breast tumor xenografts in mice. | NA | {
"id": 51548,
"name": "SIRT6",
"pos": [
101,
5
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
217,
12
]
} |
In general, susceptible individuals carry an inherited germline mutation that disables one copy of DICER1; within tumors, a very characteristic second mutation alters function of the other gene copy. | genomic_alterations | {
"id": 23405,
"name": "DICER1",
"pos": [
99,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
114,
6
]
} |
In this study, we demonstrate an association between MMP13 expression and the presence of SAMs in the regression of experimental liver fibrosis. | NA | {
"id": 4322,
"name": "MMP13",
"pos": [
53,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
102,
10
]
} |
The aim of this study was to examine the frequency of two polymorphisms in Brazilian patients with biopsy-proven simple steatosis or non-alcoholic steatohepatitis (NASH): -493 G/T in the MTP gene, which codes the protein responsible for transferring triglycerides to nascent apolipoprotein B, and -129 C/T in the GCLC gene, which codes the catalytic subunit of glutamate-cystein ligase in the formation of glutathione. | NA | {
"id": 4547,
"name": "MTTP",
"pos": [
187,
3
]
} | {
"id": "C2718067",
"name": "Alcoholic Steatohepatitis",
"pos": [
137,
25
]
} |
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