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However, approximately 15% of CN patients develop myeloid malignancies that have been associated with somatic mutations in the G-CSF receptor (G-CSFR) and RAS genes as well as with acquired monosomy 7. | genomic_alterations | {
"id": 1441,
"name": "CSF3R",
"pos": [
143,
6
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
58,
12
]
} |
The Gly460Trp variant of the alpha-adducin gene has been associated with the salt-sensitive and diuretic responsive form of hypertension. | genomic_alterations | {
"id": 118,
"name": "ADD1",
"pos": [
29,
13
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
124,
12
]
} |
While the cause-effect relationship between ALK fusions and malignancies such as ALCL and IMT is very well established, more circumstantial links implicate the involvement of the full-length, normal ALK receptor in the genesis of additional malignancies including glioblastoma, neuroblastoma, breast cancer, and others; in these instances, ALK is believed to foster tumorigenesis following activation by autocrine and/or paracrine growth loops involving the reported ALK ligands, pleiotrophin (PTN) and midkine (MK). | NA | {
"id": 4192,
"name": "MDK",
"pos": [
503,
7
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
366,
13
]
} |
On the basis of the latter observation, we analyzed plasma cell-derived tumors and found strong expression of GLI2 and BCL2 in neoplastic cells of plasmacytoma patients, implicating HH/GLI signaling in the development of plasma cell-derived malignancies. | NA | {
"id": 2736,
"name": "GLI2",
"pos": [
110,
4
]
} | {
"id": "C0032131",
"name": "Plasmacytoma",
"pos": [
147,
12
]
} |
Pilot study of Biomarkers for predicting effectiveness of ramosetron in diarrhea-predominant irritable bowel syndrome: expression of S100A10 and polymorphisms of TPH1. | NA | {
"id": 6281,
"name": "S100A10",
"pos": [
133,
7
]
} | {
"id": "C0011991",
"name": "Diarrhea",
"pos": [
72,
8
]
} |
It has been estimated that up to 1 in 10 adults has at least one adrenocortical nodule up to 1 cm on autopsy; these benign tumors may contribute to metabolic syndrome, hypertension, obesity and abnormalities of the hypothalamic-pituitary-adrenal (HPA) axis that can be linked to other serious disorders such as osteoporosis, depression and late-onset diabetes mellitus. | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
247,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
194,
13
]
} |
TAM (10 μM) may reverse the multi-drug-resistance (MDR) of QBC939/ADM and enhance the chemotherapeutic effects on cholangiocarcinoma, by competitively inhibiting over-expressed P-gp. | NA | {
"id": 133,
"name": "ADM",
"pos": [
66,
3
]
} | {
"id": "C0206698",
"name": "Cholangiocarcinoma",
"pos": [
114,
18
]
} |
Establishment and characterization of a new human myxoid liposarcoma cell line (DL-221) with the FUS-DDIT3 translocation. | genomic_alterations | {
"id": 2521,
"name": "FUS",
"pos": [
97,
3
]
} | {
"id": "C0206634",
"name": "Liposarcoma, Myxoid",
"pos": [
50,
18
]
} |
To determine whether combination treatment consisting of p53 gene transfer and cisplatin (CDDP) improves prognosis of ovarian cancer patients with peritonitis carcinomatosa, we tried this therapy in a peritonitis carcinomatosa model that we developed. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
57,
8
]
} | {
"id": "C0031154",
"name": "Peritonitis",
"pos": [
201,
11
]
} |
These were the platelet glycoprotein (GP) receptors GPIIIa, GPIa, GPIbalpha; platelet ligands beta-fibrinogen and von Willebrand Factor (vWF); interleukins (IL) IL-1RN, and IL-6; adhesion proteins E-selectin and P-selectin; and metalloproteinase MMP-9. | NA | {
"id": 3690,
"name": "ITGB3",
"pos": [
52,
6
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
99,
10
]
} |
TLR2 expression negatively correlated with CD3(+)/CD4(+)/CD8(+) T-cell counts and HBV viral load in patients with liver cirrhosis. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
57,
3
]
} | {
"id": "C0023890",
"name": "Liver Cirrhosis",
"pos": [
114,
15
]
} |
Furthermore, IL-10 was able to reduce, but not totally abrogate, adenovirus-induced hepatic inflammation. | NA | {
"id": 3586,
"name": "IL10",
"pos": [
13,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
65,
10
]
} |
Among other brain tumors, ODC activation could also be observed in meningiomas. | NA | {
"id": 4953,
"name": "ODC1",
"pos": [
26,
3
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
12,
12
]
} |
CD14(+) macrophages within ascites consistently expressed protein for CCR1, -2, and -5. | NA | {
"id": 1230,
"name": "CCR1",
"pos": [
70,
4
]
} | {
"id": "C0003962",
"name": "Ascites",
"pos": [
27,
7
]
} |
Previous studies have also shown that CYP24A1 (an enzyme implicated in vitamin D metabolism), might play an important role in furthering the progression of kidney lesions during diabetic nephropathy. | biomarker | {
"id": 1591,
"name": "CYP24A1",
"pos": [
38,
7
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
178,
20
]
} |
Oral submucous fibrosis (OSF) is a precancerous condition of the oral cavity and oropharynx and a significant number of such cases transform into oral squamous cell carcinoma (OSCC). | NA | {
"id": 26578,
"name": "OSTF1",
"pos": [
25,
3
]
} | {
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
151,
23
]
} |
High expression of MRP1 (89%, 8/9 tumors), TUBB3 (86%, 18/21 tumors), PTEN (85%, 28/33 tumors), TOP2A (84%, 26/31 tumors), thymidylate synthase (TS; 80%, 24/30 tumors), RRM1 (71%, 15/21 tumors), and TOP1 (63%, 19/30 tumors) were found in medulloblastoma. | genomic_alterations | {
"id": 7298,
"name": "TYMS",
"pos": [
123,
20
]
} | {
"id": "C0025149",
"name": "Medulloblastoma",
"pos": [
238,
15
]
} |
The risk was additively enhanced by combination of the ACE D/D genotype with other clinical risk factors (old age, hypoalbuminemia, and poor pulmonary function). | NA | {
"id": 1636,
"name": "ACE",
"pos": [
55,
3
]
} | {
"id": "C0239981",
"name": "Hypoalbuminemia",
"pos": [
115,
15
]
} |
In multiple regression analysis, daily drinking was significantly and positively associated with yearly changes in serum LDLC levels in men with ND2-237Met (p=0.026). | NA | {
"id": 4536,
"name": "ND2",
"pos": [
145,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
39,
8
]
} |
In the first study, LRRK2 mutation carriers with or without manifest Parkinson's disease who were referred for investigation between July, 1999, and January, 2012, were scanned with PET tracers for the membrane dopamine transporter, and dopamine synthesis and storage (<sup>18</sup>F-6-fluoro-L-dopa; <sup>18</sup>F-FDOPA). | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
20,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
69,
19
]
} |
Furthermore, we also observed that hypoxia accelerated RANKL-mediated cell migration, which was inhibited following HIF-1α knockdown and PI3K-Akt inhibition. | NA | {
"id": 8600,
"name": "TNFSF11",
"pos": [
55,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
35,
7
]
} |
Topically administered MIF plays a significant role in the early recovery of corneal sensitivity after LASIK in the experimental animal model. | NA | {
"id": 268,
"name": "AMH",
"pos": [
23,
3
]
} | {
"id": "C1707516",
"name": "Corneal Sensitivity",
"pos": [
77,
19
]
} |
We suggest that incomplete penetrance of dominant mutations in the LMNA gene is a common feature and we emphasize the significance of mutational analysis in relatives of sporadic cases of laminopathies, as asymptomatic carriers face high risk of sudden cardiac death. | NA | {
"id": 4000,
"name": "LMNA",
"pos": [
67,
9
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
206,
12
]
} |
Reduced BRCA1 gene expression is common in the sporadic form of ovarian carcinoma. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
8,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
47,
8
]
} |
No cases showed selective amplification of ERBB2 or EGFR but corresponding chromosome-specific probes displayed chromosome 17 and 7 polyploidy associated with the grade of the lesion (p<0.0001 and p=0.004, respectively) and with the positive expression of Ki67 and p16 (p<0.01). | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
43,
5
]
} | {
"id": "C0032578",
"name": "Polyploidy",
"pos": [
132,
10
]
} |
These findings suggest that the presence of tumor-specific CD4(+) Treg cells at tumor sites may have a profound effect on the inhibition of T cell responses against cancer. | NA | {
"id": 920,
"name": "CD4",
"pos": [
59,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
165,
6
]
} |
We also discover a processed pseudogene for USA-CYP, a cyclophilin associated with U4/U6 snRPNs, and a novel gene, DDP2, encoding a mitochondrial protein similar to the X-linked deafness-dystonia protein, which is juxtaposed 5'-to-5' to SDHD. | NA | {
"id": 6392,
"name": "SDHD",
"pos": [
237,
4
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
178,
8
]
} |
The maturation defect of mutant uromodulin leads to the accumulation of immature uromodulin in the endoplasmic reticulum (ER) and to ER hyperplasia. | NA | {
"id": 7369,
"name": "UMOD",
"pos": [
81,
10
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
136,
11
]
} |
These clinicopathological observations demonstrate the relevance of plakophilin 1 to keratinocyte adhesion and epidermal morphogenesis. | NA | {
"id": 5317,
"name": "PKP1",
"pos": [
68,
13
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
98,
8
]
} |
Although the number of TSC patients with large rearrangements of TSC1 is small, these patients tend to have a somewhat milder phenotype compared with the group of patients with small TSC1 mutations. | genomic_alterations | {
"id": 7248,
"name": "TSC1",
"pos": [
65,
4
]
} | {
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
23,
3
]
} |
In humans, PTEN deletion is associated with follicular adenomas and carcinomas, and in mice, deletion of one Pten allele causes mild thyroid hyperplasia. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
11,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
128,
4
]
} |
The G allele of -368T > G in SLC22A5, in which strong linkage disequilibrium was observed and the limited diversity of three haplotypes was estimated, was significantly associated with steroid resistance in Japanese patients with Crohn's disease (P = 0.016). | genomic_alterations | {
"id": 6584,
"name": "SLC22A5",
"pos": [
32,
7
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
233,
15
]
} |
These findings indicate that the inherited anticoagulant homozygous -33T → C TFPI polymorphism may protect against colon cancer recurrence and suggests a mediating role for the coagulation system in cancer outcomes. | genomic_alterations | {
"id": 7035,
"name": "TFPI",
"pos": [
77,
4
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
115,
12
]
} |
Mifepristone reversed the resistance of HeLa/MMC cells to MMC in vitro; the overexpression of the GCS gene and the increased expression of apoptosis-related protein Bcl-2 may play important roles in the formation of multidrug resistance in cervical cancer. | NA | {
"id": 2729,
"name": "GCLC",
"pos": [
98,
3
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
240,
15
]
} |
After genetic analysis, diabetics (n = 46) with HNF1A, HNF1B, HNF4A, GCK gene mutations (diagnosed as MODY) and diabetics (n = 30) with HNF1B, HNF4A, GCK gene SNPs were excluded. | genomic_alterations | {
"id": 6928,
"name": "HNF1B",
"pos": [
136,
5
]
} | {
"id": "C0342276",
"name": "Maturity onset diabetes mellitus in young",
"pos": [
102,
4
]
} |
Additionally, drusen-like deposition of sub-RPE material was notable, and several patients exhibited a sub-RPE fibrotic nodule. | NA | {
"id": 6120,
"name": "RPE",
"pos": [
107,
3
]
} | {
"id": "C0028259",
"name": "Nodule",
"pos": [
120,
6
]
} |
Therefore, NODAL, a member of TGF-beta superfamily of developmental regulators, is a strong candidate to be functionally involved in congenital LR axis patterning defects or heterotaxy. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
30,
8
]
} | {
"id": "C0266642",
"name": "Situs ambiguus",
"pos": [
174,
10
]
} |
To evaluate mRNA levels of the ocular mucins MUC1, MUC2, MUC4, MUC5AC, and MUC7 in conjunctival impression cytology samples from patients with moderate to severe dry eye syndrome (DES) compared with a population of healthy subjects; and to investigate the use of the levels of these mucin genes as biomarkers of DES and subsequently as a potential diagnostic test for DES. | NA | {
"id": 4585,
"name": "MUC4",
"pos": [
57,
4
]
} | {
"id": "C0013238",
"name": "Dry Eye Syndromes",
"pos": [
162,
16
]
} |
Further, an earlier age of drinking onset correlated with increased expression of RAGE, TLR4, and HMGB1. | NA | {
"id": 177,
"name": "AGER",
"pos": [
82,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
27,
8
]
} |
However, whether Stat3 drives the formation of CSCs during the development of resistance in TNBC, and whether a Stat3 inhibitor reverses CSC-mediated Dox resistance, remains to be elucidated. | biomarker | {
"id": 6774,
"name": "STAT3",
"pos": [
17,
5
]
} | {
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
92,
4
]
} |
Compound 21 and Telmisartan combination mitigates type 2 diabetic nephropathy through amelioration of caspase mediated apoptosis. | therapeutic | {
"id": 836,
"name": "CASP3",
"pos": [
97,
9
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
57,
20
]
} |
PATIENTS AND METHODS: Messenger RNA expression levels of excision repair cross complementing 1 (ERCC1), breast cancer 1 (BRCA1), ribonucleotide reductase subunit M1 (RRM1) and caveolin-1 were determined by RT-PCR in tumor DNA from 57 advanced and metastatic bladder cancer patients treated with either gemcitabine/cisplatin or gemcitabine/cisplatin/paclitaxel (Taxol). | NA | {
"id": 2067,
"name": "ERCC1",
"pos": [
96,
5
]
} | {
"id": "C4721666",
"name": "Bladder cancer stage IV",
"pos": [
247,
25
]
} |
In conclusion, MUC5B expression is associated with aggressive behavior of MCF7 breast cancer cells. | NA | {
"id": 727897,
"name": "MUC5B",
"pos": [
15,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
51,
19
]
} |
To further understand the regulation and roles of OKL38 in tumorigenesis we proceeded to clone and characterize the human OKL38 gene and three of its variants with transcripts of 1.9, 2.2, and 2.4 kb. | NA | {
"id": 29948,
"name": "OSGIN1",
"pos": [
122,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
59,
13
]
} |
In addition, we report here five new loci for prostate cancer susceptibility, at 5p15 (lambda-corrected probability P(GC) = 3.9 x 10(-18)), GPRC6A/RFX6 (P(GC) = 1.6 x 10(-12)), 13q22 (P(GC) = 2.8 x 10(-9)), C2orf43 (P(GC) = 7.5 x 10(-8)) and FOXP4 (P(GC) = 7.6 x 10(-8)). | NA | {
"id": 116113,
"name": "FOXP4",
"pos": [
242,
5
]
} | {
"id": "C3469524",
"name": "PROSTATE CANCER, SUSCEPTIBILITY TO",
"pos": [
46,
30
]
} |
TERT attenuates astrocyte proliferation and promotes neuronal survival in the developing rat brain after hypoxia-ischemia, partly through its enhancement of p15 and neurotrophin-3 expression in astrocytes. | NA | {
"id": 7015,
"name": "TERT",
"pos": [
0,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
105,
7
]
} |
Moreover, Uaf1(-/-) mouse embryonic stem cells (mESCs) showed chromosome instability, genotoxin hypersensitivity, and impaired Fancd2 focus assembly. | NA | {
"id": 57599,
"name": "WDR48",
"pos": [
10,
4
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
62,
22
]
} |
High expression of Nek2 is implicated in the induction of chromosomal instability, promotion of cell proliferation, and drug resistance in tumor cells as well as a marker for poor clinical outcomes. | NA | {
"id": 4751,
"name": "NEK2",
"pos": [
20,
4
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
59,
23
]
} |
Herein we performed a case-control study evaluating the influence of three single nucleotide polymorphisms (SNPs) in XPA, ERCC5 and MTR [rs1800975 (G-4A), rs17655 (Asp1104His) and rs1805087 (A2756G), respectively] in lymphoma risk. | genomic_alterations | {
"id": 2073,
"name": "ERCC5",
"pos": [
122,
5
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
217,
8
]
} |
There was no correlation between the 4 SNPs in DIO2 gene and replacement doses of L-T4, whereas a statistical significance was found between rs7140952 and central obesity (P<0.05), and systolic and diastolic blood pressure (P<0.05). | NA | {
"id": 1734,
"name": "DIO2",
"pos": [
47,
9
]
} | {
"id": "C0311277",
"name": "Obesity, Abdominal",
"pos": [
155,
15
]
} |
Comparison of 131I-MIBG, 68Ga-DOTANOC PET/CT and 18F-FDG PET/CT scans in a patient with extra adrenal paraganglioma associated with SDH-B gene mutation. | genomic_alterations | {
"id": 10993,
"name": "SDS",
"pos": [
132,
3
]
} | {
"id": "C1533592",
"name": "Malignant Paraganglionic Neoplasm",
"pos": [
88,
27
]
} |
Comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) studies were performed on 45 rhabdomyosarcoma specimens consisting of 23 ARMSs and 22 ERMSs (12 ERMS cases were included from an earlier study). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
81,
4
]
} | {
"id": "C0035412",
"name": "Rhabdomyosarcoma",
"pos": [
116,
16
]
} |
Recent findings showed a long-lasting NPY over-expression in the rat hippocampus by local application of recombinant AAV vectors associated with reduced generalization of seizures, delayed kindling epileptogenesis, and strong reduction of chronic spontaneous seizures. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
117,
3
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
259,
8
]
} |
For both CD14 C-159T and CC16 A38G, the risk allele for atopic phenotypes in Finnish Karelia was the protective allele in Russian Karelia. | NA | {
"id": 929,
"name": "CD14",
"pos": [
9,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
56,
6
]
} |
Furthermore, we show that VISTA.COMP, but not VISTA-Fc, functions as an immunosuppressive agonist in vivo capable of prolonging the survival of skin allografts in a mouse transplant model as well as rescuing mice from acute concanavalin-A-induced hepatitis. | biomarker | {
"id": 1311,
"name": "COMP",
"pos": [
32,
4
]
} | {
"id": "C0019159",
"name": "Hepatitis A",
"pos": [
247,
9
]
} |
Immunohistochemistry experiments showed the upregulation of FURIN in the plaque lymphocytes and macrophages where it was co-expressed with BAFF/TNFSF13B and APRIL/TNFSF13. | NA | {
"id": 10673,
"name": "TNFSF13B",
"pos": [
144,
8
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
73,
6
]
} |
We show here that reduced expression of CNP is the primary cause of a distinct behavioural phenotype, seen only upon aging as an additional 'pro-inflammatory hit'. | NA | {
"id": 1267,
"name": "CNP",
"pos": [
40,
3
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
158,
3
]
} |
We will next discuss the role of the FAK/ERK axis, and possibly Rap1, in mediating CAP1 signals to control breast cancer cell adhesion, invasiveness, and proliferation, largely based on our latest findings. | biomarker | {
"id": 5906,
"name": "RAP1A",
"pos": [
64,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
107,
13
]
} |
An altered p53 tumor-suppressor gene has been suggested to cooperate with activated Ki-ras in malignant cellular transformation and could enhance genomic instability. | NA | {
"id": 3845,
"name": "KRAS",
"pos": [
84,
6
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
146,
19
]
} |
Novel DNA methylation markers were identified, of which cg12374721 (PRAC2), cg18081940 (TDRD10) and cg04475027 (TMEM132C) show promise as diagnostic and prognostic markers in breast cancer as well as other cancer types. | biomarker | {
"id": 92293,
"name": "TMEM132C",
"pos": [
112,
8
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
175,
13
]
} |
Beyond HER2, other genetic abnormalities have been identified, and these mutations may be targetable by tyrosine kinase inhibitors or monoclonal antibodies. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
7,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
27,
13
]
} |
EGFR gene copy number gains and KRAS/BRAF mutations have been reported to act as positive and negative predictors, respectively, of therapeutic response to EGFR targeted therapies in colorectal adenocarcinoma, a tumour type claimed to be genetically similar to ITAC. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
37,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
212,
6
]
} |
Block of SUR1 with low-dose glibenclamide reduced cerebral edema, infarct volume and mortality by 50%, with the reduction in infarct volume being associated with cortical sparing. | NA | {
"id": 6833,
"name": "ABCC8",
"pos": [
9,
4
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
125,
7
]
} |
A comprehensive statistical analysis suggested the set of 19 gene markers, ANKRD28, BHLHE40, CGGBP1, RBSP3, EPHB1, FGD5, FOXP1, GORASP1/TTC21, IQSEC1, ITGA9, LOC285375, LRRC3B, LRRN1, MITF, NKIRAS1/RPL15, TRH, UBE2E2, VHL, WNT7A, to allow early detection, tumor progression, metastases and to discriminate between SCC and ADC with sensitivity and specificity of 80-100%. | NA | {
"id": 7200,
"name": "TRH",
"pos": [
205,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
275,
10
]
} |
In comparison with the Ad-GFP group, the Ad-ACE2 group exhibited reduced systolic blood pressure, urinary albumin excretion, creatinine clearance, glomeruli sclerosis index and renal malondialdehyde level; downregulated transforming growth factor (TGF)-β1, vascular endothelial growth factor (VEGF) and collagen IV protein expression; and increased renal superoxide dismutase activity. | NA | {
"id": 59272,
"name": "ACE2",
"pos": [
44,
4
]
} | {
"id": "C0036429",
"name": "Sclerosis",
"pos": [
157,
9
]
} |
Plasma samples were obtained from 69 patients with EGFR-mutated tumors and 21 negative control cases. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
51,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
64,
6
]
} |
All of the results presented here suggest that genomic instability, the MMR system, and hyper-methylation of the H19 DMR1 may be correlated with the occurrence of NTDs. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
72,
3
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
47,
19
]
} |
Recently, homozygous and compound heterozygous mutations of the IL36RN gene, which encodes the anti-inflammatory cytokine interleukin (IL)-36 receptor antagonist, were identified in familial and sporadic cases of various ethnicities with generalized pustular psoriasis. | NA | {
"id": 26525,
"name": "IL36RN",
"pos": [
64,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
195,
8
]
} |
6.7 kb deletion with characteristic IGHD phenotype predominated in nonconsanguineous community from Rajasthan having lowest mean FBS (55.6 mg/dl, p < 0.001) and peak GH (0.03 ng/dl, p < 0.01).In Group II phenotype was IB. | genomic_alterations | {
"id": 26269,
"name": "FBXO8",
"pos": [
129,
3
]
} | {
"id": "C3714796",
"name": "Isolated somatotropin deficiency",
"pos": [
36,
4
]
} |
Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH). | genomic_alterations | {
"id": 5649,
"name": "RELN",
"pos": [
23,
4
]
} | {
"id": "C0019621",
"name": "Histiocytosis, Langerhans-Cell",
"pos": [
155,
3
]
} |
Pathologic prescreening identified 552 (95%) tumors with sufficient tissue for SNaPshot; 51% had ≥1 mutation identified, most commonly in KRAS (24%), EGFR (13%), PIK3CA (4%) and translocations involving ALK (5%). | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
150,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
45,
6
]
} |
The results of this study have demonstrated that the T variant of 5-HTR2A may influence an earlier age of onset of TLE, especially in those with impaired memory. | genomic_alterations | {
"id": 3356,
"name": "HTR2A",
"pos": [
66,
7
]
} | {
"id": "C0014556",
"name": "Epilepsy, Temporal Lobe",
"pos": [
115,
3
]
} |
Histone-deacetylase (HDAC) inhibitors (HDACi) can block proliferation and induce intrinsic apoptosis in human papillomavirus (HPV)-positive cervical carcinoma cells, independently of copy number and integration locus of the viral DNA. | NA | {
"id": 9734,
"name": "HDAC9",
"pos": [
21,
4
]
} | {
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
140,
18
]
} |
We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function. | NA | {
"id": 5428,
"name": "POLG",
"pos": [
44,
5
]
} | {
"id": "C0027854",
"name": "Neurologic Manifestations",
"pos": [
93,
27
]
} |
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy. | NA | {
"id": 4359,
"name": "MPZ",
"pos": [
0,
19
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
76,
11
]
} |
Interestingly, using a highly sensitive nested PCR, IL-7 mRNA was detectable in all specimens tested, but there was no indication of IL-7 overexpression in MF then analysing lesions of patch, plaque or tumour stages. | NA | {
"id": 3574,
"name": "IL7",
"pos": [
52,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
192,
6
]
} |
Several forms of HSP were identified, including one patient with SPG31, four with SPG7 (with one novel SPG7 mutation) and two with SPG5 (including two novel CYP7B1 frameshift mutations). | genomic_alterations | {
"id": 65055,
"name": "REEP1",
"pos": [
65,
5
]
} | {
"id": "C0034152",
"name": "Henoch-Schoenlein Purpura",
"pos": [
17,
3
]
} |
Serum biochemical diagnostic ratios predicting WD-ALF (ALP: bilirubin and AST:ALT) were determined in these patients. | biomarker | {
"id": 27295,
"name": "PDLIM3",
"pos": [
55,
3
]
} | {
"id": "C0019202",
"name": "Hepatolenticular Degeneration",
"pos": [
47,
2
]
} |
Inactivation of the INK4a/ARF locus and p53 in sporadic extrahepatic bile duct cancers and bile tract cancer cell lines. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
26,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
47,
8
]
} |
CD8+CD103+ tumor-infiltrating lymphocytes are tumor-specific tissue-resident memory T cells and a prognostic factor for survival in lung cancer patients. | NA | {
"id": 3682,
"name": "ITGAE",
"pos": [
4,
5
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
132,
11
]
} |
There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number. | genomic_alterations | {
"id": 6606,
"name": "SMN1",
"pos": [
130,
4
]
} | {
"id": "C0002736",
"name": "Amyotrophic Lateral Sclerosis",
"pos": [
109,
3
]
} |
In general, 90% of tumors with p16 inactivation were also silenced for RASSF1A expression. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
31,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
19,
6
]
} |
<b>Methods:</b> We conducted a search for articles in PubMed, Scopus, PsycINFO, and Web of Science, using the key words: ("Child sexual abuse" OR "childhood maltreatment" OR "sexual violence" OR "posttraumatic stress disorder" OR "rape") AND ("cytokines" OR "inflammatory markers" OR "interleukin" OR "tumor necrosis factor" OR "C-reactive protein"). | genomic_alterations | {
"id": 1401,
"name": "CRP",
"pos": [
341,
18
]
} | {
"id": "C0008062",
"name": "Child Sexual Abuse",
"pos": [
135,
18
]
} |
In this study, we report that SUDHL-1 and KARPAS 299 ALCL-derived cell lines present different sensitivity to the antiproliferative effect of recombinant adenovirus-mediated p27(Kip1) expression or to serum-starvation in culture media. | NA | {
"id": 1027,
"name": "CDKN1B",
"pos": [
178,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
207,
10
]
} |
Disruption of the ICA69 locus prevented lacrimal gland disease and greatly reduced salivary gland disease in NOD mice. | genomic_alterations | {
"id": 3382,
"name": "ICA1",
"pos": [
18,
5
]
} | {
"id": "C0036093",
"name": "Salivary Gland Diseases",
"pos": [
83,
22
]
} |
Loss of PTEN protein was found in thyroid adenomas and carcinomas from all 22 (100%) PTEN(Mut+) CS/CSL patients. | NA | {
"id": 1444,
"name": "CSHL1",
"pos": [
99,
3
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
55,
10
]
} |
Cartilage-specific RB1CC1 excess caused dwarfism in mice without causing obvious abnormalities in endochondral ossification and subsequent skeletal development from embryo to adult. | NA | {
"id": 9821,
"name": "RB1CC1",
"pos": [
19,
6
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
81,
13
]
} |
RASSF1, SCGB3A1 and SFRP5 had significant higher methylation levels in CCL compared to normal breast tissue, but showed no significant differences between CCL, DCIS and invasive carcinoma. | NA | {
"id": 92304,
"name": "SCGB3A1",
"pos": [
8,
7
]
} | {
"id": "C1334274",
"name": "Invasive Carcinoma",
"pos": [
169,
18
]
} |
Fgf14(-/-) mice develop ataxia and paroxysmal dyskinesia and have cognitive deficits. | biomarker | {
"id": 2259,
"name": "FGF14",
"pos": [
0,
5
]
} | {
"id": "C0007758",
"name": "Cerebellar Ataxia",
"pos": [
24,
6
]
} |
Liquid Biopsy in Primary Brain Tumors: Looking for Stardust! | biomarker | {
"id": 64398,
"name": "MPP5",
"pos": [
51,
8
]
} | {
"id": "C0750974",
"name": "Brain Tumor, Primary",
"pos": [
17,
20
]
} |
To investigate the associations of DNA methylation levels and mRNA expressions of DNA cytosine-5-methyltransferase 1 (DNMT1) and methyl CpG-binding domain 2 (MBD2) with systemic lupus erythematosus (SLE), 108 patients with SLE and 97 healthy controls were enrolled in this study. | NA | {
"id": 23070,
"name": "CMTR1",
"pos": [
97,
19
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
169,
28
]
} |
Overexpression of GDF15 in hepatoma cells resulted in increased DNA synthesis, promoted cell proliferation, and importantly enhanced invasiveness of the cells. | NA | {
"id": 9518,
"name": "GDF15",
"pos": [
18,
5
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
27,
8
]
} |
Induction of HO-1 by hemin significantly decreased infarct size, incidence of reperfusion arrhythmias, MDA generation, and calcium overload induced by FIR. | NA | {
"id": 3162,
"name": "HMOX1",
"pos": [
13,
4
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
51,
7
]
} |
We revealed that, apart from E-cadherin in Leydig cell tumors and calretinin in seminomas, the expression of all the analyzed markers in canine and human testicular tumors was similar. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
29,
10
]
} | {
"id": "C0039590",
"name": "Testicular Neoplasms",
"pos": [
154,
17
]
} |
The mineral ion abnormalities observed in the three IHP patients are thus most likely caused by the inherited homozygous missense PTH mutation, which reduces bioactivity of the secreted hormone. | NA | {
"id": 5741,
"name": "PTH",
"pos": [
130,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
16,
13
]
} |
The authors suggest that MAD-CaP-5 could be explored as a novel prostate cancer antigen, and that this approach can be used to identify immunologically recognized proteins following any specific intervention. | biomarker | {
"id": 270,
"name": "AMPD1",
"pos": [
25,
3
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
64,
15
]
} |
For TNF-α gene -238 G/A polymorphism, no significant association was found between this genetic variation and pneumoconiosis risk. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
8,
6
]
} | {
"id": "C0032273",
"name": "Pneumoconiosis",
"pos": [
110,
14
]
} |
Hypoxic preconditioning induces stroke tolerance in mice via a cascading HIF, sphingosine kinase, and CCL2 signaling pathway. | therapeutic | {
"id": 56848,
"name": "SPHK2",
"pos": [
77,
20
]
} | {
"id": "C0740392",
"name": "Infarction, Middle Cerebral Artery",
"pos": [
32,
6
]
} |
We compared the serial analysis of gene expression (SAGE) between normal pig skin melanocytes and melanoma cells from an early pulmonary metastasis of MeLiM minipigs. | NA | {
"id": 55511,
"name": "SAGE1",
"pos": [
52,
4
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
127,
20
]
} |
Neuronal and glioma-derived stem cell factor induces angiogenesis within the brain. | NA | {
"id": 4254,
"name": "KITLG",
"pos": [
28,
16
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
13,
6
]
} |
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