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|---|---|---|---|
These results suggest that I/R injury in steatotic liver transplantation are associated with exaggerated activation of NFκB subunit p65, leading to an inflammatory mechanism of reperfusion injury and necrosis. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
119,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
200,
8
]
} |
The present study suggests the contribution of the interleukin 12 B gene or nearby gene(s) to mite-sensitive atopic asthma and a considerable number of genetic variants common across Caucasians and Japanese populations contributing to asthma, although the relative importance of various variants may differ between the groups. | genomic_alterations | {
"id": 3593,
"name": "IL12B",
"pos": [
51,
16
]
} | {
"id": "C1827849",
"name": "IgE-mediated allergic asthma",
"pos": [
109,
13
]
} |
T-cell-directed chemokine thymus- and activation-regulated chemokine (TARC)- and/or macrophage-derived chemokine (MDC)-positive H&RS cells were detected in all 20 cases of HL MC and HL NS but only in 5 of 9 cases of HL-like ATLL. | biomarker | {
"id": 6367,
"name": "CCL22",
"pos": [
114,
3
]
} | {
"id": "C0152268",
"name": "Nodular Sclerosis Classical Hodgkin Lymphoma",
"pos": [
185,
2
]
} |
We also observed that the SPA4 peptide inhibits LPS-induced expression of TNF-α, nuclear localization of NF-κB-p65 and cell influx, and alleviates the endotoxic shock-like symptoms in a mouse model. | NA | {
"id": 64689,
"name": "GORASP1",
"pos": [
111,
3
]
} | {
"id": "C0036981",
"name": "Endotoxic shock",
"pos": [
151,
15
]
} |
The expression of CTGF closely correlated with the progression of radiation nephropathy. | NA | {
"id": 1490,
"name": "CCN2",
"pos": [
18,
4
]
} | {
"id": "C4054127",
"name": "Radiation Nephropathy",
"pos": [
66,
21
]
} |
RIPA (at low ristocetin concentrations) in the patients' platelet-rich plasma was abolished by a monoclonal antibody (AP1) to GPIb and was markedly reduced by monoclonal antibodies (10E5 and LJP9) that block adenosine diphosphate and thrombin-induced binding of vWF and fibrinogen to GPIIb-IIIa but was unaffected by an antibody (LJP5) that only blocks vWF binding. | NA | {
"id": 3725,
"name": "JUN",
"pos": [
118,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
270,
10
]
} |
The minor allele for MCHR1 100213G>A (rs133072) was associated with reduced abdominal obesity. | NA | {
"id": 2847,
"name": "MCHR1",
"pos": [
21,
5
]
} | {
"id": "C0311277",
"name": "Obesity, Abdominal",
"pos": [
76,
17
]
} |
We found that in hypoxic breast cancer cells, hypoxia-inducible factor 1 (HIF-1) activates transcription of the PLOD1 and PLOD2 genes encoding procollagen lysyl hydroxylases that are required for the biogenesis of collagen, which is a major constituent of the ECM. | NA | {
"id": 5351,
"name": "PLOD1",
"pos": [
112,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
25,
13
]
} |
Four SNPs [-3969 C>T (rs243327), -1656 G>A (rs243330), -820 G>T (rs33977706) and +1125 G>C (rs33932899)] of SOCS1 gene were determined for TaqMan genotyping assays in a group of 447 patients with ACS and 622 healthy controls. | genomic_alterations | {
"id": 8651,
"name": "SOCS1",
"pos": [
120,
5
]
} | {
"id": "C0742343",
"name": "Acute Chest Syndrome",
"pos": [
208,
3
]
} |
A novel molecular pathway has been identified that links Hoxc6 with oncogenic signaling through the activator protein-1 pathway in carcinoid tumorigenesis. | biomarker | {
"id": 3727,
"name": "JUND",
"pos": [
100,
19
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
141,
13
]
} |
The authors describe the clinical characteristics, MRI abnormalities, and molecular findings in a patient with a novel variant of a two-octarepeat insertion mutation in the prion protein gene. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
51,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
55,
13
]
} |
These effects were at least partly due to effects on the expression of VCAM-1, ICAM-1, and P-selectin, which led to reduced macrophage adhesion and infiltration. | NA | {
"id": 6403,
"name": "SELP",
"pos": [
91,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
135,
8
]
} |
Split T cell tolerance against a self/tumor antigen: spontaneous CD4+ but not CD8+ T cell responses against p53 in cancer patients and healthy donors. | NA | {
"id": 920,
"name": "CD4",
"pos": [
65,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
115,
6
]
} |
Concurrent with regression, mRNA levels of the gene encoding LXRalpha are increased in plaque CD68+ cells, suggestive of a functional relationship between LXR and CCR7. | NA | {
"id": 1236,
"name": "CCR7",
"pos": [
163,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
16,
10
]
} |
Our results suggest that NPM may play an important role in the progression of tumorigenesis and that NPM may serve as a potential marker for HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
141,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
78,
13
]
} |
Centrosomal aberrations in primary invasive breast cancer are associated with nodal status and hormone receptor expression. | NA | {
"id": 3164,
"name": "NR4A1",
"pos": [
95,
16
]
} | {
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
35,
22
]
} |
Our aim was to measure perforin, granzyme A, granzyme B, and 8-OHdG expression in sputum from smoking and nonsmoking patients with asthma, compared with smoking and nonsmoking control subjects. | NA | {
"id": 3002,
"name": "GZMB",
"pos": [
45,
10
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
153,
7
]
} |
Recently we have demonstrated that a disease-specific subpopulation of CD4+ T cells isolated from skin lesions of chronic plaque psoriasis produces interferon-gamma in response to group A streptococcal (GAS) antigens. | NA | {
"id": 2588,
"name": "GALNS",
"pos": [
203,
3
]
} | {
"id": "C0406317",
"name": "Chronic small plaque psoriasis",
"pos": [
122,
16
]
} |
Association of PON2 variation with birth weight in Trinidadian neonates of South Asian ancestry. | NA | {
"id": 5445,
"name": "PON2",
"pos": [
15,
4
]
} | {
"id": "C0005612",
"name": "Birth Weight",
"pos": [
35,
12
]
} |
Conversely, biglycan deficiency improved systemic and renal outcome in lupus-prone mice, with lower levels of autoantibodies, less enlargement of the spleen and lymph nodes, and reduction in renal damage and albuminuria. | NA | {
"id": 633,
"name": "BGN",
"pos": [
12,
8
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
131,
11
]
} |
MDR1 C3435T polymorphism in Mexican patients with breast cancer. | genomic_alterations | {
"id": 5243,
"name": "ABCB1",
"pos": [
0,
4
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
50,
13
]
} |
Recent studies have revealed that malignant transformation of various human cancers may involve two different genetic alterations: inactivation of the p16 gene, which is a putative tumor suppressor gene, and genetic instability represented by microsatellite instability (MSI). | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
151,
8
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
243,
26
]
} |
Expression of IGF-R1, glycolysis-related proteins (GLUT-1, HK 2, PFK-1, LDHA, TKTL1), mitochondrial enzymes (SDHA, SDHB, ATP synthase) were analyzed in normal oral mucosa (n = 5), oral precursor lesions (simple hyperplasia, n = 11; squamous intraepithelial neoplasia, SIN I-III, n = 35), and OSCC specimen (n = 42) by immunohistochemistry and real-time polymerase chain reaction (qPCR) analysis in OSCC cell lines. | NA | {
"id": 3939,
"name": "LDHA",
"pos": [
72,
4
]
} | {
"id": "C0878500",
"name": "Intraepithelial Neoplasia",
"pos": [
241,
25
]
} |
Peripheral blood MIF levels showed no association with either parasitemia or hemoglobin concentrations. | NA | {
"id": 268,
"name": "AMH",
"pos": [
17,
3
]
} | {
"id": "C0242723",
"name": "Parasitemia",
"pos": [
62,
11
]
} |
Thus, we show that a virus-sensing PRR modulates the progression of secondary pneumococcal infection following IAV. | NA | {
"id": 10159,
"name": "ATP6AP2",
"pos": [
35,
3
]
} | {
"id": "C0032269",
"name": "Pneumococcal Infections",
"pos": [
78,
22
]
} |
The differentially expressed genes between diffuse and nodular samples included some related to DNA stability and repair (TALDO1, PRDX2, DDB1, XRCC1, and POLB), RNA stability and degradation (OASL and AUF1), protein synthesis and processing (PFDN5, HSPD1, and NACA), cell growth (CDC25C and GRPR), and tumorigenesis and cell cycle (VIL2 and TPD52). | NA | {
"id": 2925,
"name": "GRPR",
"pos": [
291,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
302,
13
]
} |
In the Netherlands, the majority of hereditary paragangliomas (PGL) is caused by SDHD, SDHB and SDHAF2 mutations. | genomic_alterations | {
"id": 54949,
"name": "SDHAF2",
"pos": [
96,
6
]
} | {
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
47,
14
]
} |
As activation and overexpression of the cholecystokinin-2 (CCK-2)/gastrin receptor can lead to carcinogenesis, it has been explored as a therapeutic target in pancreatic cancer. | genomic_alterations | {
"id": 887,
"name": "CCKBR",
"pos": [
66,
16
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
95,
14
]
} |
Most X-linked nonsyndromic hearing loss is caused by various types of mutations of the POU domain class 3 transcription factor 4 gene (POU3F4). | NA | {
"id": 6925,
"name": "TCF4",
"pos": [
106,
27
]
} | {
"id": "C3711374",
"name": "Nonsyndromic Deafness",
"pos": [
14,
25
]
} |
We report a 54-year-old woman with eosinophilic cellulitis whose peripheral blood showed a marked eosinophilia and a high proportion of CD4+CD7- cells before treatment. | NA | {
"id": 920,
"name": "CD4",
"pos": [
136,
3
]
} | {
"id": "C0343101",
"name": "Wells syndrome",
"pos": [
35,
23
]
} |
These results suggest that ND2-237 Leu/Met polymorphism modulates the effects of daily alcohol consumption on SUA levels in nonobese Japanese men. | NA | {
"id": 4536,
"name": "ND2",
"pos": [
27,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
87,
19
]
} |
Specifically, dietary NOB significantly reduced the level of iNOS, up-regulated Nrf2-dependent enzymes and profoundly modulated key signaling proteins resulting in decreased cell cycle progression in the colonic tissue of AOM/DSS-treated mice. | biomarker | {
"id": 4780,
"name": "NFE2L2",
"pos": [
80,
4
]
} | {
"id": "C1848296",
"name": "DOSAGE-SENSITIVE SEX REVERSAL",
"pos": [
226,
3
]
} |
This enhanceosome serves as a landing pad for the co-activator CIITA, which is recruited via protein-protein interactions CIITA is the master control factor for MHCII expression. | NA | {
"id": 4261,
"name": "CIITA",
"pos": [
122,
5
]
} | {
"id": "C1704436",
"name": "Peripheral Arterial Diseases",
"pos": [
38,
3
]
} |
The amplification frequency of the RPS6KB1 and TBX2 oncogenes from this amplicon was compared in 27 BRCA1 and BRCA2 mutant breast tumors, 15 breast tumors from high-risk patients with no BRCA1 or BRCA2 mutations, and 62 matched sporadic breast tumor controls. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
187,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
228,
8
]
} |
The angiopoietin/Tie2 and MET pathways have been implicated in tumor angiogenesis, metastases, and macrophage infiltration. | biomarker | {
"id": 4233,
"name": "MET",
"pos": [
26,
3
]
} | {
"id": "C1519670",
"name": "Tumor Angiogenesis",
"pos": [
63,
18
]
} |
The results suggest that GCT contains all signals including OPG, ODF, M-CSF and RANK that are essential for inducing osteoclastogenesis and promoting bone resorption. | NA | {
"id": 8792,
"name": "TNFRSF11A",
"pos": [
80,
4
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
150,
15
]
} |
The monoclonal antibody Myc 1-6E10 was used in an immunocytochemical technique to examine the expression of the c-myc oncogene in normal endocervices and those with glandular intraepithelial neoplasia and invasive malignancy. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
114,
12
]
} | {
"id": "C0878500",
"name": "Intraepithelial Neoplasia",
"pos": [
175,
25
]
} |
Breast cancers with BRCA1 methylation lacked BRCA1 expression, except for only three cancers, and there was a significant inverse relationship between BRCA1 methylation and its expression in sporadic breast cancers (P = 0.043). | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
151,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
191,
8
]
} |
Ovariectomy of NAR significantly ameliorated hypertriglyceridemia. | NA | {
"id": 10898,
"name": "CPSF4",
"pos": [
15,
3
]
} | {
"id": "C0020557",
"name": "Hypertriglyceridemia",
"pos": [
45,
20
]
} |
Furthermore, GPER silencing in CAFs inhibited hypoxia-increased CTGF expression in CAFs and breast cancer cells cultured with CM from CAFs under hypoxic conditions. | NA | {
"id": 2852,
"name": "GPER1",
"pos": [
13,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
145,
7
]
} |
Mutations in the PTEN tumor suppressor gene are found in a high proportion of human prostate cancers, and in mice, Pten deletion induces high-grade prostate intraepithelial neoplasia (HGPIN). | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
17,
4
]
} | {
"id": "C0878500",
"name": "Intraepithelial Neoplasia",
"pos": [
157,
25
]
} |
DNA aneuploidy was present in 70.9% of the cases and the median S-phase fraction (SPF) was 9.4%. | NA | {
"id": 23541,
"name": "SEC14L2",
"pos": [
82,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
4,
10
]
} |
Three cases of lymphomas (two T cell lymphomas and one B cell lymphoma) were observed in the group receiving EBV and TPA, and one T cell lymphoma and three cases of undifferentiated carcinoma were found in the group receiving EBV, TPA and n-butyrate, but no case was found in the control groups that were transplanted with fetal nasopharyngeal tissue infected with EBV, or TPA and n-butyrate alone. | NA | {
"id": 5327,
"name": "PLAT",
"pos": [
373,
3
]
} | {
"id": "C0205698",
"name": "Undifferentiated carcinoma",
"pos": [
165,
26
]
} |
Seventy-two southern Chinese with prostate cancer undergoing radical prostatectomy were included in this study. miR-146a polymorphism was analyzed by PCR-RFLP. | genomic_alterations | {
"id": 406938,
"name": "MIR146A",
"pos": [
112,
8
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
34,
15
]
} |
In this case-control study we genotyped the CHRNA5 rs3841324 polymorphism with 400 NPC cases and 491 healthy controls who were Han Chinese and frequency-matched by age (±5 years), gender, and alcohol consumption. | NA | {
"id": 1138,
"name": "CHRNA5",
"pos": [
44,
6
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
192,
19
]
} |
Therefore, the TCR repertoire was determined in long-term TIL cultures that specifically lysed autologous melanoma in vitro and in many cases mediated in vivo regression of metastatic cancer in patients with advanced disease. | NA | {
"id": 7096,
"name": "TLR1",
"pos": [
58,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
159,
10
]
} |
Productive HIV infection in BLT mice was associated with T-cell activation (increases in CD38 mean fluorescence intensity and both the frequency and absolute number of CD38(+) HLA-DR(+) T cells) that correlated strongly with plasma viral load and was most pronounced in the CD8(+) T-cell compartment. | NA | {
"id": 952,
"name": "CD38",
"pos": [
168,
4
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
232,
10
]
} |
The loss of palladin may be an integral part of EMT, an early step in the metastatic spread of colon carcinoma. | biomarker | {
"id": 23022,
"name": "PALLD",
"pos": [
12,
8
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
95,
15
]
} |
Available data on agents potentially targeting bone metastatic CRPC or the bone microenvironment in patients with CRPC are discussed, including inhibitors of tumor growth/survival and bone turnover (SRC family kinase inhibitors, endothelin-1 inhibitors, MET inhibitors, and thalidomide and its derivatives), inhibitors of bone turnover (bisphosphonates and receptor activator of nuclear factor-kB ligand inhibitors), antiangiogenic agents (vascular endothelial growth factor receptor and platelet-derived growth factor blockers), prostate cancer vaccines, and bone-directed radiopharmaceuticals. | biomarker | {
"id": 4233,
"name": "MET",
"pos": [
254,
3
]
} | {
"id": "C1328504",
"name": "Hormone refractory prostate cancer",
"pos": [
63,
4
]
} |
We evaluated the association of LRP5 and APOE polymorphisms with serum lipid concentrations and generalized aggressive periodontitis within a Chinese population. | NA | {
"id": 348,
"name": "APOE",
"pos": [
41,
4
]
} | {
"id": "C0031106",
"name": "Aggressive Periodontitis",
"pos": [
108,
24
]
} |
We found that in hypoxic breast cancer cells, hypoxia-inducible factor 1 (HIF-1) activates transcription of the PLOD1 and PLOD2 genes encoding procollagen lysyl hydroxylases that are required for the biogenesis of collagen, which is a major constituent of the ECM. | NA | {
"id": 5351,
"name": "PLOD1",
"pos": [
112,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
17,
7
]
} |
While all CT genes were frequently expressed in cell lines derived from pancreatic cancer, no expression of MAGE-3, SSX-1, SSX-2, NY-ESO-1 and CT-7 was detected in fresh tumor biopsies, and MAGE-4 (1/52), SSX-4 (1/39) and CT-8 (2/41) were only rarely expressed. | NA | {
"id": 51213,
"name": "LUZP4",
"pos": [
223,
4
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
73,
17
]
} |
We found that the minor alleles for these polymorphisms were not related to invasive breast cancer risk overall in women of European descent: ECCR4 per-allele OR (95% CI) = 0.99 (0.97-1.02), minor allele frequency = 27.5%; TNF 1.00 (0.95-1.06), 5.0%; CASP10 1.02 (0.98-1.07), 6.5%; PGR 1.02 (0.99-1.06), 15.3%; and BID 0.98 (0.86-1.12), 1.7%. | NA | {
"id": 843,
"name": "CASP10",
"pos": [
251,
6
]
} | {
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
76,
22
]
} |
Histamine (from 10(-3) to 10(-9) M) did not affect the growth of BRL-3A cells without hypoxia treatment. | NA | {
"id": 23774,
"name": "BRD1",
"pos": [
65,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
86,
7
]
} |
The protumorigenic activity of Nrf2 in keratinocytes was particularly significant in a mouse model of skin tumorigenesis that did not rely upon chemical carcinogenesis. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
31,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
107,
13
]
} |
These results demonstrate that a single genetic event such as the inappropriate expression of the nonmutated LH/hCG receptor gene is sufficient to initiate the phenotypic changes that cause the development of a benign adrenocortical tumor. | biomarker | {
"id": 1081,
"name": "CGA",
"pos": [
112,
3
]
} | {
"id": "C0001618",
"name": "Tumors of Adrenal Cortex",
"pos": [
218,
20
]
} |
7.6515.16 F to DDM and grant 5/4/150/5 awarded to MMD and CAA is research associate, FRS-FNRS), Fonds Spéciaux de Recherche, Fondation St Luc, and Foundation Against Cancer, and donations from the Ferrero family. | biomarker | {
"id": 10194,
"name": "TSHZ1",
"pos": [
58,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
166,
6
]
} |
than in sporadic HNPs (29/90 [32%], P = .03), as well as fewer instances of multiple tumors in SDHC (2/22) than in SDHD (24/42; P<.001), 0 malignant tumors in SDHC vs 6/15 in SDHB (P = .002), and younger age at diagnosis in SDHC than in sporadic HNPs (45 vs 52 years; P = .03). | NA | {
"id": 6392,
"name": "SDHD",
"pos": [
115,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
237,
8
]
} |
The 78 kDa glucose-regulated stress protein GRP78 is induced by physiological stress conditions such as hypoxia, low pH, and glucose deprivation which often exist in the microenvironments of solid tumors. | biomarker | {
"id": 3309,
"name": "HSPA5",
"pos": [
44,
5
]
} | {
"id": "C0280100",
"name": "Solid Neoplasm",
"pos": [
191,
12
]
} |
Overall, these data indicate that overexpression of IL10R2 and STAT3 contributes to colorectal carcinogenesis in microsatellite-stable tumors through IL22/STAT3 signaling. | NA | {
"id": 3588,
"name": "IL10RB",
"pos": [
52,
6
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
95,
14
]
} |
Thiazide therapy for ACTH-induced hypercalciuria and nephrolithiasis. | therapeutic | {
"id": 5443,
"name": "POMC",
"pos": [
21,
4
]
} | {
"id": "C0546878",
"name": "Nodding spasm",
"pos": [
53,
15
]
} |
There were only 7.2% (54 of 746) infected high-risk HPV types in the control, whereas 54.5% (six of 11) and 76.5% (52 of 68) were infected in the CIN and cervical cancer, respectively. | genomic_alterations | {
"id": 57026,
"name": "PDXP",
"pos": [
146,
3
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
154,
15
]
} |
Functional assays, such as the MTS assay, colony formation assay, and transwell assay, were used to determine the biological role of ITGA2 in human cancer. | biomarker | {
"id": 1678,
"name": "TIMM8A",
"pos": [
31,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
148,
6
]
} |
The status of p16 was further characterized in 38 premalignant lesions including squamous metaplasias without dysplasia, squamous metaplasias with mild, moderate and severe dysplasias and 4 carcinomas in situ. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
14,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
147,
4
]
} |
Hirschsprung's disease (HSCR) is characterized by aganglionosis from failure of neural crest cell (NCC) migration to the distal hindgut. | NA | {
"id": 6559,
"name": "SLC12A3",
"pos": [
99,
3
]
} | {
"id": "C0019569",
"name": "Hirschsprung Disease",
"pos": [
50,
13
]
} |
Treatment of androgen receptor positive clones with the synthetic androgen R1881 further reduced alpha6 and beta4 messenger RNA expression as well as adhesion on laminin and Matrigel invasion. | NA | {
"id": 128408,
"name": "BHLHE23",
"pos": [
108,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
150,
8
]
} |
The k-ras mutations occurred in the cases with DLBL with RER, and four of five cases with RER had a k-ras mutation, indicating a close association between RER and k-ras mutation. p53 mutations were not found in the CLTH. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
179,
3
]
} | {
"id": "C0677607",
"name": "Hashimoto Disease",
"pos": [
215,
4
]
} |
Endoplasmic reticulum (ER) stress markers BiP, CHOP, ATF4 and ATF6 were induced in osteosarcoma cells. | biomarker | {
"id": 22926,
"name": "ATF6",
"pos": [
62,
4
]
} | {
"id": "C0029463",
"name": "Osteosarcoma",
"pos": [
83,
12
]
} |
Our data revealed that interferon-gamma (IFN-γ) stimulation significantly potentiated the expression of the KP enzymes, IDO-1 IDO-2, kynureninase (KYNU), kynurenine hydroxylase (KMO) and significantly down-regulated 2-amino-3-carboxymuconate semialdehyde decarboxylase (ACMSD) and kynurenine aminotransferase-I (KAT-I) expression in cultured human glioma cells. | NA | {
"id": 8564,
"name": "KMO",
"pos": [
178,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
348,
6
]
} |
BDNF/TrkB system was crucial for tumor angiogenesis and growth, which may represent a potential target for antiangiogenic therapy in HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
133,
3
]
} | {
"id": "C1519670",
"name": "Tumor Angiogenesis",
"pos": [
33,
18
]
} |
We have investigated loci in the vicinity of the human Thy-I locus on chromosome 11q23 and report here the results of restriction fragment length polymorphism (RFLP) analysis of the CD3 epsilon locus of 168 Caucasoid patients with type I diabetes. | genomic_alterations | {
"id": 7070,
"name": "THY1",
"pos": [
55,
5
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
231,
15
]
} |
Proliferation and the sequence of epithelial to mesenchymal transition (EMT) and mesenchymal to epithelial transition (MET), called epithelial-mesenchymal-epithelial (EME) cycling are pivotal mechanisms of kidney repair and fibrosis. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
72,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
224,
8
]
} |
Among the alleles potentially associated with type 2 diabetes, none negatively influenced surrogate markers of insulin sensitivity in non-diabetic participants, while the minor alleles of UQCRC1 rs2228561 and COX10 rs10521253 showed a weak (p < 0.01 to p < 0.05) negative influence on indices of glucose-stimulated insulin secretion. | NA | {
"id": 7384,
"name": "UQCRC1",
"pos": [
188,
6
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
111,
19
]
} |
Neurological degradation, megalencephaly, and typical MRI pattern are characteristic of infantile sporadic patients. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
54,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
98,
8
]
} |
Exome and RNA sequencing were conducted on a pretreatment tumor and two subcutaneous resistant metastases, one that was present at baseline and previously responded to vemurafenib (PV1) and one that occurred de novo after reintroduction of the drug (PV2). | NA | {
"id": 83483,
"name": "PLVAP",
"pos": [
181,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
58,
5
]
} |
Reduced production of UGRP1, which is likely due, at least in part, to a local cytokine environment, may contribute to the hyper-inflammation in CRS and correlates with response to surgery. | NA | {
"id": 117156,
"name": "SCGB3A2",
"pos": [
22,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
129,
12
]
} |
We conclude that these particular COL4A3/COL4A4 mutations either predispose some patients to FSGS and chronic renal failure, or that thin basement membrane nephropathy sometimes coexists with another genetic modifier that is responsible for FSGS and progressive renal failure. | genomic_alterations | {
"id": 1286,
"name": "COL4A4",
"pos": [
41,
6
]
} | {
"id": "C2316810",
"name": "Chronic kidney disease stage 5",
"pos": [
102,
21
]
} |
Most importantly, we demonstrated for the first time that the commonly used non-steroidal anti-inflammatory drug for headache ASA and possibly other COX-1/2 inhibitors can produce a strong antagonistic effect on the growth inhibition of lung cancer cells when administered in combination with MTX. | biomarker | {
"id": 4512,
"name": "COX1",
"pos": [
149,
5
]
} | {
"id": "C0018681",
"name": "Headache",
"pos": [
117,
8
]
} |
Differential expression of mRNA for Th1 and Th2 cytokine-associated transcription factors and suppressors of cytokine signalling in peripheral blood mononuclear cells of patients with atopic dermatitis. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
36,
3
]
} | {
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
184,
17
]
} |
These findings support a two-hit hypothesis, whereby cytoplasmic mislocalization of FUS protein, followed by cellular stress, contributes to the formation of cytoplasmic aggregates that may sequester FUS, disrupt RNA processing and initiate motor neuron degeneration. | NA | {
"id": 2521,
"name": "FUS",
"pos": [
200,
3
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
29,
3
]
} |
Our results provide a foundation and an expansive view of the roles and mechanisms of ncRNAs in PDF-induced peritoneal fibrosis. | NA | {
"id": 9518,
"name": "GDF15",
"pos": [
96,
3
]
} | {
"id": "C0521607",
"name": "Peritoneal Fibrosis",
"pos": [
108,
19
]
} |
Our results support the hypothesis that opioids play a significant role in the susceptibility of the CNS to HIV-1 infection and subsequent encephalopathy by inhibiting local production of HIV-1-protective chemokines (IL-8 and macrophage-inflammatory protein-1beta) and enhancing expression of HIV-1 entry coreceptor genes (CCR3, CCR5, and CXCR2) within the CNS. | biomarker | {
"id": 3576,
"name": "CXCL8",
"pos": [
217,
4
]
} | {
"id": "C2363741",
"name": "HIV-1 infection",
"pos": [
108,
15
]
} |
Ligand-receptor interactions of adhesion molecules, such as SDF1/CXCR4, VLA4/VCAM-1, or CD44/osteopontin, play an important role in homing of HSC in the hematopoietic niche. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
65,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
32,
8
]
} |
The rat Nb2-11C lymphoma cell line expresses high affinity prolactin (PRL) receptors, and requires lactogenic hormones for survival and proliferation. | NA | {
"id": 53942,
"name": "CNTN5",
"pos": [
8,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
16,
8
]
} |
The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. | NA | {
"id": 25939,
"name": "SAMHD1",
"pos": [
158,
6
]
} | {
"id": "C0151699",
"name": "Intracranial Hemorrhage",
"pos": [
21,
23
]
} |
Receptor subunits for the neurocytokine ciliary neurotrophic factor (CNTF) share sequence similarity with the receptor for leptin, an adipocyte-derived cytokine involved in body weight homeostasis. | NA | {
"id": 1270,
"name": "CNTF",
"pos": [
69,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
173,
11
]
} |
FISH analysis demonstrated homozygous deletion of the 9p21 locus in 35 of 52 cases (67%) of pleural mesothelioma and in 5 of 20 cases of peritoneal mesothelioma (25%) (P<0.005). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
0,
4
]
} | {
"id": "C0346109",
"name": "Malignant Mesothelioma of Peritoneum",
"pos": [
137,
23
]
} |
Adherence to components of the extracellular matrix was analysed in static assays, and adhesion to E-selectin, endothelial and mesothelial cells in dynamic flow assays. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
99,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
87,
8
]
} |
Despite more rapid onset and higher rate of CR than in other molecular subgroups, CRD was inferior in CCND1 without CD20 myeloma, resembling outcomes in MAF/MAFB and proliferation entities. | genomic_alterations | {
"id": 54474,
"name": "KRT20",
"pos": [
116,
4
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
121,
7
]
} |
Differences in mean body mass index (BMI) and other anthropometric measures including weight, waist circumference, and waist-to-hip ratio were assessed by a general linear model in individuals categorized by INSIG2 rs7566605 genotype. | NA | {
"id": 51141,
"name": "INSIG2",
"pos": [
208,
6
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
20,
15
]
} |
BRAF V600E mutation in tumors was determined using a PCR-based allelic discrimination method. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
0,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
23,
6
]
} |
In this issue of the JCI, Tamura, Phan, and colleagues identified ectopic upregulation of the membrane-bound IL-6 receptor (IL6R), indicating classical IL-6 signaling in the smooth muscle layer of remodeled vessels in human and experimental PAH. | biomarker | {
"id": 3569,
"name": "IL6",
"pos": [
109,
4
]
} | {
"id": "C3203102",
"name": "Idiopathic pulmonary arterial hypertension",
"pos": [
241,
3
]
} |
Myocardial hypertrophy was induced by Cardiotrophin-1 (CT-1) in neonatal cardiomyocytes and by abdominal aortic constriction (AC) for 4 weeks in adult SD rats. | NA | {
"id": 1489,
"name": "CTF1",
"pos": [
55,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
11,
11
]
} |
We also showed that bcl-2, HIF-1alpha and HSP90 proteins form a tri-complex that may contribute to enhancing the stability of the HIF-1alpha protein in bcl-2 overexpressing clones under hypoxic conditions. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
130,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
186,
7
]
} |
Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in one of the mismatch repair (MMR) genes: MLH1, MSH2, MSH6 and PMS2. | genomic_alterations | {
"id": 4360,
"name": "MRC1",
"pos": [
131,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
40,
6
]
} |
PON1 decrease indicates lymph node metastasis, but its moderate predictive power does not recommend PON1 determination alone for clinical application. | NA | {
"id": 5444,
"name": "PON1",
"pos": [
100,
4
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
24,
21
]
} |
There is evidence that the nociceptive (and sympathetic) axons die because nerve growth factor is not being produced by the target tissues; patients with congenital insensitivity to pain have mutations in the NTRK1 gene, the gene responsible for producing the TrkA receptor, but there is also evidence for mutations in the SCN9A gene, which codes for a specific subunit of the voltage-gated sodium channel. | biomarker | {
"id": 4803,
"name": "NGF",
"pos": [
75,
19
]
} | {
"id": "C1855739",
"name": "Indifference to Pain, Congenital, Autosomal Recessive",
"pos": [
154,
32
]
} |
Systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), low density lipoprotein (LDL), high-density lipoprotein (HDL), high-sensitivity C-reactive protein (hs-CRP), left atrial diameter (LA DIA), left ventricular diameter (LV DIA) and other parameters were recorded in EH group. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
57,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
63,
15
]
} |
Longitudinally, we observed that malaria drives Th1 cytokine responses, and accordingly, the less-functional Th1-polarized Tfh subset was preferentially activated and its activation did not correlate with antibody responses. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
109,
3
]
} | {
"id": "C0024530",
"name": "Malaria",
"pos": [
33,
7
]
} |
Furthermore, no relationship has been established between GLP-1 receptor (GLP-1R) in AT and obesity and insulin resistance (IR). | NA | {
"id": 2740,
"name": "GLP1R",
"pos": [
74,
6
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
104,
18
]
} |
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