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The median age at time of NEPC was 68.1 years, median prostate-specific antigen (PSA) was 1.20 ng/ml (0.14 ng/mL small-cell carcinoma, 1.55 ng/mL mixed carcinoma) and sites of metastases included bone (72.6%), lymph node (47.0%), and viscera (65.5%). | biomarker | {
"id": 354,
"name": "KLK3",
"pos": [
81,
3
]
} | {
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
113,
20
]
} |
Transfection of estrogen-dependent (T47D) and estrogen-independent (MDA-MB-468) breast cancer cells with VPAC(1)-receptor siRNA completely abolished VIP stimulatory effect on secretion of the main angiogenic factor, vascular endothelial growth factor (VEGF), and transactivation of epidermal growth factor receptor (EGFR or HER1) and HER2, two members of HER family of tyrosine-kinase receptors. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
149,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
80,
13
]
} |
Investigation of 109 genes potentially involved in chemoresistance revealed that only ABCB4, TCEA2, CCL14, CCL15 and KRT13 were up-regulated by FXR activation both in human hepatocytes and FXR/RXR-expressing hepatoma cells. | NA | {
"id": 6919,
"name": "TCEA2",
"pos": [
93,
5
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
208,
8
]
} |
We investigated TP53 pathway disruption in paediatric BL patient samples (n = 30) by studying MDM4, MDM2, and CDKN1A (p21) protein and mRNA expression; TP53 mutations; TP53 protein expression; and gene copy number abnormalities. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
118,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
214,
13
]
} |
Metabotropic glutamate receptor 5 (mGluR5) is an excitatory G-protein-coupled receptor (GPCR) present in the spinal cord dorsal horn (SCDH) where it has a well-established role in pain. | biomarker | {
"id": 134391,
"name": "GPR151",
"pos": [
88,
4
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
180,
4
]
} |
Our study provides genetic evidence that highlights the relevance of the Ca2+ -dependent potassium channel in the control of human blood pressure and its impact on cardiovascular disease. | NA | {
"id": 760,
"name": "CA2",
"pos": [
73,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
131,
14
]
} |
We correlated the TLE1 expression with the t(X;18) translocation and other established biomarkers (EMA, PanCK, CK7, CD34 and BCL2). | NA | {
"id": 3855,
"name": "KRT7",
"pos": [
111,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
51,
13
]
} |
This process was accompanied by a significant increase in esophageal PGE2 levels and the induction of both mRNA and protein levels of COX-2, COX-1, prostaglandin E synthase, 15-hydroxyprostaglandin dehydrogenase, and PGE2 receptors EP3, EP4 and especially EP2, which rose to particularly high levels in experimental rats. | NA | {
"id": 3248,
"name": "HPGD",
"pos": [
174,
37
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
58,
10
]
} |
The relationship between the apolipoprotein E allele and genotype frequencies to preeclampsia as well as adverse perinatal outcome. | NA | {
"id": 348,
"name": "APOE",
"pos": [
29,
16
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
81,
12
]
} |
Cytogenetic and molecular genetic studies have shown that deletions on the short arm of chromosome 17 distal to p53 locus are the most common genetic events in medulloblastoma. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
112,
3
]
} | {
"id": "C0278510",
"name": "Childhood Medulloblastoma",
"pos": [
160,
15
]
} |
Pdk4 deficiency ameliorated the hepatic steatosis significantly in NASH mice. | biomarker | {
"id": 5166,
"name": "PDK4",
"pos": [
0,
4
]
} | {
"id": "C4529962",
"name": "Fatty Liver Disease",
"pos": [
67,
4
]
} |
The correlation between FISH abnormalities and clinical characteristics such as age, gender, white blood cell count, peripheral hemoglobin (Hb) level, peripheral platelet count (PLT), lactate dehydrogenase (LDH) level, Rai stage, Binet stage, and overall survival was analyzed, and the relationship between them and overall survival was also analyzed to evaluate their prognostic implications. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
24,
4
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
128,
10
]
} |
Metformin has vasculo-protective effects even in normoglycemic subjects, and C-reactive protein and fibrinogen are considered markers of endothelial injury and inflammation. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
77,
18
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
100,
10
]
} |
TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. | NA | {
"id": 7299,
"name": "TYR",
"pos": [
0,
8
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
48,
12
]
} |
The common variant in the GSTM1 and GSTT1 genes is related to markers of oxidative stress and inflammation in patients with coronary artery disease: a case-only study. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
36,
5
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
124,
23
]
} |
Further FISH mapping confirmed that the 5q and 11p translocation breakpoints were the same in all 3 cases, between the nucleophosmin (NPM1) and fms-related tyrosine kinase 4 (FLT4) genes on 5q35 and the Harvey ras-1-related gene complex (HRC) and the radixin pseudogene (RDPX1) on 11p15.5. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
8,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
51,
13
]
} |
However, the role of Sirt1 in the brain, particularly the hypothalamus, in body weight and energy balance regulation is debated. | NA | {
"id": 23411,
"name": "SIRT1",
"pos": [
21,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
75,
11
]
} |
An expression quantitative trait locus variant for LKB1 gene predicts the clinical outcomes of chemotherapy in patients with non-small cell lung cancer. | genomic_alterations | {
"id": 6794,
"name": "STK11",
"pos": [
51,
4
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
125,
26
]
} |
These results suggest that RAR mRNA levels may be useful biomarkers for this disease and that gastroesophageal junction adenocarcinomas are genetically similar to esophageal adenocarcinomas. | NA | {
"id": 10966,
"name": "RAB40B",
"pos": [
27,
3
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
163,
10
]
} |
Our study is the first study that investigates the relationship among variants of CDKN2 p16 540 C>G, 580 C>T, and MDM2 SNP309 T>G risk of CRC and the development and progression in the Turkish population. | genomic_alterations | {
"id": 1017,
"name": "CDK2",
"pos": [
82,
5
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
147,
3
]
} |
Thus, in addition to performing a glucogenic function, asprosin is a centrally acting orexigenic hormone that is a potential therapeutic target in the treatment of both obesity and diabetes. | biomarker | {
"id": 2200,
"name": "FBN1",
"pos": [
55,
8
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
181,
8
]
} |
We conclude that: 1) in atopic and nonatopic asthma CD8+ T cells, in addition to CD4+ T cells, mast cells and eosinophils express mRNA for IL-4 and IL-5; 2) whereas IL-4 and IL-5 mRNA expression was associated mainly with T cells, immunoreactivity for the corresponding protein products was detectable predominantly in eosinophils and mast cells; and 3) this discrepancy may be partly attributable to the relative insensitivity of double IHC technique that does not allow detection of cytokine protein in T cells where, unlike eosinophils and mast cells, there is no facility for storage and concentration in granules. | NA | {
"id": 920,
"name": "CD4",
"pos": [
81,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
24,
6
]
} |
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
20,
3
]
} | {
"id": "C0152200",
"name": "Achromatopsia",
"pos": [
114,
13
]
} |
CCND1, EMS1, PIK3CA, and ERBB1 amplifications are uncommon and appear to be late events in the development of ethmoid sinus adenocarcinoma. | NA | {
"id": 2017,
"name": "CTTN",
"pos": [
7,
4
]
} | {
"id": "C1333472",
"name": "Ethmoid Sinus Adenocarcinoma",
"pos": [
110,
28
]
} |
The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus. | genomic_alterations | {
"id": 4068,
"name": "SH2D1A",
"pos": [
33,
3
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
175,
15
]
} |
To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu). | NA | {
"id": 5630,
"name": "PRPH",
"pos": [
55,
10
]
} | {
"id": "C1536085",
"name": "Geographic Atrophy",
"pos": [
29,
18
]
} |
Glutathione S-transferase (GST) pull-down experiments found novel binding partners with the SRR, several of which are associated with myopathies. | genomic_alterations | {
"id": 27306,
"name": "HPGDS",
"pos": [
0,
25
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
134,
10
]
} |
In the case for which FL and DLL cells showed different bcl-2/IgH junctional sequences, DLL cells incorporated larger bcl-2 and Ig-joining (JH) gene fragments than the corresponding FL cells, suggesting that DLL clones developed by a distinct t(14; 18) translocation rather than by alteration of the hybrid bcl-2/IgH gene detected in the FL cells. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
313,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
253,
13
]
} |
The frequency of KRAS/BRAF mutations in conventional serous high-grade carcinomas (4.0% : 1/25) was significantly lower than that in the other histological type (32.3% : 10/31). | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
22,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
71,
10
]
} |
Resolvin D1 receptor stereoselectivity and regulation of inflammation and proresolving microRNAs. | NA | {
"id": 2854,
"name": "GPR32",
"pos": [
0,
20
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
57,
12
]
} |
In this study, since HCC patients positive for anti-HCV antibody had significantly longer disease-free survival (p<0.05), we evaluated the proliferative activity of 58 resected HCCs and the status of their viral infections. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
21,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
206,
16
]
} |
We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporadic ALS and 100 healthy subjects in a Korean population. | NA | {
"id": 6607,
"name": "SMN2",
"pos": [
41,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
76,
8
]
} |
Western blot analysis and confocal microscopy showed that the tight junction proteins claudin-5, JAM-1, occludin and zonula occluden-1 between endothelial cells were significantly degradated, but the protein expression of caveolin-1, the principal marker of caveolae in endothelial cells, increased after ischemia, all of which were alleviated by CG treatment. | NA | {
"id": 100506658,
"name": "OCLN",
"pos": [
104,
8
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
305,
8
]
} |
Cultures consisted primarily (>90%) of cells positive for cytokeratin 18, fibrinogen, and IGFBP-1, with less than 2% vascular cells and less than 8% macrophages. | NA | {
"id": 3875,
"name": "KRT18",
"pos": [
58,
14
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
74,
10
]
} |
Recently, a second TPH gene, designated TPH2, was detected, located on human chromosome 12, a susceptibility region for affective disorders. | NA | {
"id": 6999,
"name": "TDO2",
"pos": [
40,
4
]
} | {
"id": "C0525045",
"name": "Mood Disorders",
"pos": [
120,
19
]
} |
Patients with CRS with nasal polyposis (n = 5) also demonstrated elevated SPA1 (27-fold), SPA2 (13-fold), and SPD (13-fold). | biomarker | {
"id": 729238,
"name": "SFTPA2",
"pos": [
90,
4
]
} | {
"id": "C0027430",
"name": "Nasal Polyps",
"pos": [
23,
15
]
} |
These results show that local infection of the vessel wall with Ad.ATF.BPTI reduces neointima formation, presumably by inhibiting SMC migration, thereby offering a novel therapeutic approach to inhibiting neointima development. | NA | {
"id": 54808,
"name": "DYM",
"pos": [
130,
3
]
} | {
"id": "C2936381",
"name": "Neointima Formation",
"pos": [
84,
19
]
} |
The presence of deletions of exons 7 and 8 of SMN1 and SMN2 was determined in 110 patients with sporadic ALS and compared with 100 unaffected controls. | NA | {
"id": 6607,
"name": "SMN2",
"pos": [
55,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
96,
8
]
} |
We observed that tamoxifen or fulvestrant alone was insufficient to block proliferation of patient-derived BSCs while this could be accomplished by a selective inhibitor of ERβ (PHTPP; 53.7% in luminal and 45.5% in triple-negative breast cancers). | genomic_alterations | {
"id": 2100,
"name": "ESR2",
"pos": [
173,
3
]
} | {
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
215,
30
]
} |
In the HER2 overexpression type and TNBC, tumor cell proliferation and survival in the hypoxic tumor environment could possibly be due to disinhibition of the mTOR pathway and HIF-1α stabilization by downregulation of REDD1. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
176,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
87,
7
]
} |
We also discuss the role of JAK inhibitors for treatment of CSF3RT618I-mutated chronic neutrophilic leukemia and hematologic malignancies with rearranged JAK2 gene. | genomic_alterations | {
"id": 3717,
"name": "JAK2",
"pos": [
154,
4
]
} | {
"id": "C0376545",
"name": "Hematologic Neoplasms",
"pos": [
113,
24
]
} |
The gene for Clara cell 16-kDa (CC16) protein is a promising candidate for asthma susceptibility. | NA | {
"id": 7356,
"name": "SCGB1A1",
"pos": [
32,
4
]
} | {
"id": "C1869116",
"name": "ASTHMA, SUSCEPTIBILITY TO (finding)",
"pos": [
75,
21
]
} |
To study the specificity of GSTT1, we determined immunoreactivity using a panel of 58 patients with PSC, with and without IBD, 57 patients with IBD, 31 patients with Hashimoto's thyroiditis, 30 patients with primary biliary cirrhosis (PBC), 20 patients with insulin dependent diabetes mellitus, 22 patients with autoimmune polyendocrine syndrome type I, 10 patients with systemic lupus erythematosus (SLE), 20 patients with Sjögren's syndrome, 12 patients with autoimmune pancreatitis, 28 patients with Addison's disease, 27 patients with Grave's disease, 17 with myasthenia gravis, and 118 healthy controls. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
28,
5
]
} | {
"id": "C0008312",
"name": "Primary biliary cirrhosis",
"pos": [
208,
25
]
} |
Frataxin depletion causes impairment in iron-sulfur cluster and heme biosynthesis, disruption of iron homeostasis and hypersensitivity to oxidants. | NA | {
"id": 2395,
"name": "FXN",
"pos": [
1,
8
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
119,
16
]
} |
Four cases of t(1;9;11)(v;p22;q23) have been reported previously in a series that included cases with other 11q23 abnormalities, making it difficult to determine the distinctive clinical features associated with this abnormality. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
26,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
114,
13
]
} |
VCAM-1 and E-selectin expression in cardiac biopsies can be upregulated with CMV infection in the absence of graft rejection. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
11,
10
]
} | {
"id": "C0018129",
"name": "Graft Rejection",
"pos": [
109,
15
]
} |
Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor. | genomic_alterations | {
"id": 2798,
"name": "GNRHR",
"pos": [
98,
39
]
} | {
"id": "C0022735",
"name": "Klinefelter Syndrome",
"pos": [
8,
29
]
} |
We further discuss seizure phenotypes in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. | NA | {
"id": 7023,
"name": "TFAP4",
"pos": [
133,
4
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
78,
8
]
} |
These results suggest that this variant in ADRB3 is influencing diabetes risk in this Mexican American family and supports a role for alterations of the beta3-adrenergic receptor in the pathogenesis of type 2 diabetes. | NA | {
"id": 27319,
"name": "BHLHE22",
"pos": [
153,
5
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
202,
15
]
} |
We investigated the 5-HTTLPR of the 5-HTT gene (G) and the presence of childhood sexual abuse and cannabis comorbidity (E) in 137 bipolar patients with (versus without) lifetime psychotic symptoms. | NA | {
"id": 3064,
"name": "HTT",
"pos": [
38,
8
]
} | {
"id": "C0024809",
"name": "Marijuana Abuse",
"pos": [
98,
8
]
} |
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. | genomic_alterations | {
"id": 6444,
"name": "SGCD",
"pos": [
30,
6
]
} | {
"id": "C0026850",
"name": "Muscular Dystrophy",
"pos": [
61,
18
]
} |
59.52% of hypothyroid patients had anti-TPO antibodies in their circulation. | NA | {
"id": 7066,
"name": "THPO",
"pos": [
40,
3
]
} | {
"id": "C0020676",
"name": "Hypothyroidism",
"pos": [
10,
11
]
} |
Analysis of receptor tyrosine kinase ROS1-positive tumors in non-small cell lung cancer: identification of a FIG-ROS1 fusion. | NA | {
"id": 11067,
"name": "DEPP1",
"pos": [
109,
3
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
61,
26
]
} |
The six-transmembrane protein of prostate 2 (STAMP2) has been shown to be involved in insulin resistance in animal models, but in humans, its role is far from understood. | NA | {
"id": 79689,
"name": "STEAP4",
"pos": [
45,
6
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
86,
18
]
} |
The present study was performed to investigate the association of IL-17A and IL-17F gene polymorphisms with two autoimmune uveitis entities, Vogt-Koyanagi-Harada (VKH) syndrome and Behçet's disease (BD), in a Chinese Han population. | NA | {
"id": 112744,
"name": "IL17F",
"pos": [
77,
6
]
} | {
"id": "C0042164",
"name": "Uveitis",
"pos": [
123,
7
]
} |
Hras1 VNTR alleles as susceptibility markers for lung cancer: relationship to microsatellite instability in tumors. | genomic_alterations | {
"id": 3265,
"name": "HRAS",
"pos": [
0,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
108,
6
]
} |
In the current study, we investigated the role and mechanism of Nox4 in regulation of retinal neovascularization (NV), a hallmark of proliferative diabetic retinopathy (PDR), using a mouse model of oxygen-induced retinopathy (OIR). | NA | {
"id": 50507,
"name": "NOX4",
"pos": [
64,
4
]
} | {
"id": "C0035320",
"name": "Retinal Neovascularization",
"pos": [
86,
26
]
} |
Using a semiquantitative reverse transcriptase polymerase chain reaction (RT-PCR) technique, the numbers of copies (relative to the "housekeeping" gene beta-actin) of messenger ribonucleic acid (mRNA) encoding the eosinophil-active chemotactic cytokines, the factor regulated upon activation in normal T-cells expressed and secreted (RANTES) and monocyte chemotactic protein-3 (MCP-3), was measured in bronchial biopsies from atopic asthmatic patients (n = 9), and compared with atopic nonasthmatic (n = 8) and nonatopic nonasthmatic (n = 8) control subjects. | NA | {
"id": 6354,
"name": "CCL7",
"pos": [
378,
5
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
479,
6
]
} |
To clarify the role of SHH signaling in OKCs, the expression of SHH, PTC, SMO, and GLI-1 and mutations of PTC were examined in 18 sporadic, 4 BCNS-associated OKCs and 7 control gingivae. | NA | {
"id": 2735,
"name": "GLI1",
"pos": [
83,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
130,
8
]
} |
This study aimed to clarify the frequency, phenotypes, and molecular spectrum of DUOX2, TPO, TSHR, and TG mutations in patients with congenital hypothyroidism (CH) with enlarged or normal-sized eutopic thyroid glands. | NA | {
"id": 7066,
"name": "THPO",
"pos": [
88,
3
]
} | {
"id": "C0010308",
"name": "Congenital Hypothyroidism",
"pos": [
133,
25
]
} |
From January 2014 to March 2018, a retrospective study of 88 patients with spondylolisthesis and osteoporosis treated with minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) using the conventional pedicle screw (CPS group, n = 52) and the fenestrated pedicle screw (FPS group, n = 36) was performed with a follow-up of 30 months (range, 10-58 months). | genomic_alterations | {
"id": 2242,
"name": "FES",
"pos": [
284,
3
]
} | {
"id": "C0029456",
"name": "Osteoporosis",
"pos": [
97,
12
]
} |
Mean values (mean±SEM) of classical inflammation markers were within the normal range (ESR of 11.7±1.9 mm/h, SAA 4.7±0.4 mg/l, CRP 0.26±0.04 mg/dl), while PCT was non-detectable in all cases (<0.1 μg/l). | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
87,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
36,
12
]
} |
Identification of the NAC1-regulated genes in ovarian cancer. | biomarker | {
"id": 112939,
"name": "NACC1",
"pos": [
22,
4
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
46,
14
]
} |
Thus, these results suggest that GD-induced cell death mode is determined by the protein kinase C/ERK1/2 signal pathway that regulates MnSOD and CuZnSOD and that these antioxidants may exert their known tumor suppressive activities by inducing necrosis-to-apoptosis switch. | NA | {
"id": 5595,
"name": "MAPK3",
"pos": [
98,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
244,
8
]
} |
We sought to estimate the frequency and characteristics of HNPCC gene mutations in a population-based sample of women with epithelial ovarian cancer. | genomic_alterations | {
"id": 4292,
"name": "MLH1",
"pos": [
59,
5
]
} | {
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
123,
25
]
} |
Although the pro-domain was flexible in the crystal, without visible electron density, structural analyses combined with biochemical assays revealed that the pro-domain inhibited CASP6 auto-activation by inhibiting intramolecular cleavage at the intersubunit cleavage site TEVD(193) and also by preventing this site from intermolecular cleavage at low protein concentration through a so-called `suicide-protection' mechanism. | NA | {
"id": 839,
"name": "CASP6",
"pos": [
179,
5
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
395,
7
]
} |
We posit that brain region- and cell type-specific alterations exist in mGluR5 in schizophrenia and depression, with evidence pointing towards altered regulation of this receptor in psychiatric pathology. | genomic_alterations | {
"id": 2915,
"name": "GRM5",
"pos": [
72,
6
]
} | {
"id": "C0344315",
"name": "Depressed mood",
"pos": [
100,
10
]
} |
These results suggest that polymorphisms in IGF2/H19 gene locus are associated with PR risk in EOC. | genomic_alterations | {
"id": 3481,
"name": "IGF2",
"pos": [
44,
4
]
} | {
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
95,
3
]
} |
In white subjects, there was an increasing frequency of the FAAH 385 A/A genotype with increasing BMI categories of overweight (P=0.02) and obese (P=0.006) with the same trend in black subjects. | NA | {
"id": 79152,
"name": "FA2H",
"pos": [
60,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
140,
5
]
} |
We performed a whole-genome RNA profiling of putamen tissue from idiopathic PD (IPD), LRRK2-associated PD (G2019S mutation), neurologically healthy controls and one asymptomatic LRRK2 mutation carrier, by using the Genechip Human Exon 1.0-ST Array. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
178,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
165,
12
]
} |
Recently, we found that the increase of TGase 2 expression is required for p53 depletion in RCC by transporting the TGase 2 (1-139 a.a)-p53 complex to the autophagosome, through TGase 2 (472-687 a.a) binding p62. | biomarker | {
"id": 10657,
"name": "KHDRBS1",
"pos": [
208,
3
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
92,
3
]
} |
Routine use of MRI in the initial phases of a CADASIL diagnostic work up and the subsequent recognition of early abnormal findings in asymptomatic subjects may lead to prompt diagnosis of the disease in these patients. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
15,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
134,
12
]
} |
We conclude that the induction of colitis or ileitis in mice is associated with significant disease-specific alterations to the PAMP profile of the gut microbiota. | NA | {
"id": 10730,
"name": "YME1L1",
"pos": [
128,
4
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
34,
7
]
} |
The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in 122 unrelated hereditary ataxia (HA) and 114 unrelated hereditary spastic paraplegia (HSP) patients. | NA | {
"id": 2548,
"name": "GAA",
"pos": [
4,
3
]
} | {
"id": "C0004138",
"name": "Ataxias, Hereditary",
"pos": [
115,
17
]
} |
Because all the amyloid deposits of SSA and FAP reacted positively with the antiprealbumin antiserum, a classification of the amyloid fibril proteins of FAP and SSA by immunohistochemistry, using polyclonal anti-prealbumin antisera, was not feasible. | NA | {
"id": 811,
"name": "CALR",
"pos": [
161,
3
]
} | {
"id": "C2936349",
"name": "Plaque, Amyloid",
"pos": [
16,
16
]
} |
Presently, we demonstrate that oxaliplatin triggers necrosis more than apoptosis in HepG2, SK-Hep1, SNU-423 and Hep3B HCC cells, while mainly inducing apoptosis in HCT116 and HT29 colon cancer cells. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
118,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
180,
12
]
} |
Patients with CAD-CAM bone reconstruction experienced significantly less malocclusion (p < 0.001), were more likely to progress to a regular diet (p = 0.001), and trended to having superior speech (p = 0.057) compared with the other cohorts. | biomarker | {
"id": 805,
"name": "CALM2",
"pos": [
18,
3
]
} | {
"id": "C0024636",
"name": "Malocclusion",
"pos": [
73,
12
]
} |
A study reported in this issue of the JCI using mice lacking Munc18c, one of the vesicle-trafficking proteins involved in GLUT4 translocation, has provided new insights into the signaling/trafficking intersection that controls insulin-stimulated GLUT4 movement. | NA | {
"id": 6517,
"name": "SLC2A4",
"pos": [
246,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
128,
13
]
} |
In the present report, we asked whether variation at MTHFR (677C-->T) or MTRR (66A-->G) might be associated with human trisomies other than trisomy 21. | genomic_alterations | {
"id": 4552,
"name": "MTRR",
"pos": [
76,
4
]
} | {
"id": "C0013080",
"name": "Down Syndrome",
"pos": [
146,
10
]
} |
The sarcomas displayed compensatory activation of PERK or phospho-eIF2α independent upregulation of ATF4 in order to maintain ISR signaling, indicating that this pathway is critical for tumorigenesis. | NA | {
"id": 468,
"name": "ATF4",
"pos": [
100,
4
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
4,
8
]
} |
Significantly higher levels of SRD5A1, AKR1C2, AKR1C3, and HSD17B10 mRNA were however found in bone metastases than in non-malignant and/or malignant prostate tissue, while the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower. | NA | {
"id": 1646,
"name": "AKR1C2",
"pos": [
39,
6
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
95,
15
]
} |
Previous studies have suggested that PHLDA1 may be a stem cell marker in the human intestine that contributes to tumorigenesis. | NA | {
"id": 22822,
"name": "PHLDA1",
"pos": [
37,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
113,
13
]
} |
Although some autoinflammatory diseases are due to gain-of-function mutations for caspase-1 activity, common diseases such as gout, type 2 diabetes, heart failure, recurrent pericarditis, rheumatoid arthritis, and smoldering myeloma also are responsive to IL-1β neutralization. | genomic_alterations | {
"id": 834,
"name": "CASP1",
"pos": [
82,
9
]
} | {
"id": "C3267073",
"name": "Autoinflammatory disease",
"pos": [
14,
25
]
} |
18F-FDOPA PET Compared With 123I-Metaiodobenzylguanidine Scintigraphy and 18F-FDG PET in Secreting Sporadic Pheochromocytoma. | biomarker | {
"id": 23583,
"name": "SMUG1",
"pos": [
78,
3
]
} | {
"id": "C4551683",
"name": "Adrenal Gland Pheochromocytoma",
"pos": [
108,
16
]
} |
The pregnancy complications preeclampsia, gestational hypertension, small for gestational age infants (SGA) and pre-term birth (PTB) affect approximately 21% of all pregnancies. | NA | {
"id": 5725,
"name": "PTBP1",
"pos": [
128,
3
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
28,
12
]
} |
TNF-α/CD4(+) T cell count, TNF-α/CD8(+) T cell count and IFN-γ/proviral load positively correlated in asymptomatic patients. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
33,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
102,
12
]
} |
However, TRPA1(A) activation is more highly concordant to type 1 phototoxicity than are those photochemical parameters. | biomarker | {
"id": 8989,
"name": "TRPA1",
"pos": [
9,
5
]
} | {
"id": "C0162830",
"name": "Dermatitis, Phototoxic",
"pos": [
65,
13
]
} |
Paradoxically, loss of HIF-1alpha expression did not grossly affect the hypoxic compartments within tumor xenografts in vivo, although HIF-1alpha promoted cell proliferation and survival under hypoxia in vitro. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
135,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
193,
7
]
} |
Although the small sample size precludes strong conclusions, CYP21 nonsense mutation carriers tend to be asymptomatic while missense mutation carriers, i.e. | NA | {
"id": 1589,
"name": "CYP21A2",
"pos": [
61,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
105,
12
]
} |
The human cytomegalovirus pp71 protein employs an LXCXD motif to attack the retinoblastoma family members and induce DNA synthesis in quiescent cells. pp71 binds to and induces the degradation of the hypophosphorylated forms of the retinoblastoma protein and its family members p107 and p130 in a proteasome-dependent manner. | biomarker | {
"id": 22930,
"name": "RAB3GAP1",
"pos": [
287,
4
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
76,
14
]
} |
Overall, there was no significant difference between the 2 consolidation arms (5-year event-free survival [EFS]: 41% for HDAraC vs 35% for TSC), or cumulative incidence of relapse, or treatment-related mortality. | NA | {
"id": 10278,
"name": "EFS",
"pos": [
107,
3
]
} | {
"id": "C0206655",
"name": "Alveolar rhabdomyosarcoma",
"pos": [
73,
4
]
} |
In addition, GAD67 mRNA levels were reduced in patients with schizophrenia in both the DG (23%) and CA4 (60%) compared with controls. | NA | {
"id": 762,
"name": "CA4",
"pos": [
100,
3
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
61,
13
]
} |
Patients with Parkinson's disease (PD) who carry the G2019S mutation (a glycine to serine substitution at amino acid 2019) in the leucine-rich repeat kinase 2 (LRRK2) gene are generally believed to be clinically indistinguishable from patients with sporadic PD. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
160,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
249,
8
]
} |
The significant aggregation of 4R-tau by 14-3-3zeta suggests that 14-3-3 may act as an inducer in the generation of 4R-tau-predominant neurofibrillary tangles in tauopathies. | NA | {
"id": 10971,
"name": "YWHAQ",
"pos": [
66,
6
]
} | {
"id": "C0085400",
"name": "Neurofibrillary degeneration (morphologic abnormality)",
"pos": [
135,
23
]
} |
Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be significantly associated with oral cancer. | genomic_alterations | {
"id": 7516,
"name": "XRCC2",
"pos": [
53,
5
]
} | {
"id": "C0153381",
"name": "Malignant neoplasm of mouth",
"pos": [
129,
11
]
} |
Pretreatment with CO-releasing molecules suppresses hepcidin expression during inflammation and endoplasmic reticulum stress through inhibition of the STAT3 and CREBH pathways. | NA | {
"id": 84699,
"name": "CREB3L3",
"pos": [
161,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
79,
12
]
} |
ADAM17 selectively activates the IL-6 trans-signaling/ERK MAPK axis in KRAS-addicted lung cancer. | biomarker | {
"id": 6868,
"name": "ADAM17",
"pos": [
0,
6
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
85,
11
]
} |
Once daily treatment with P2pal-18S reduced the severity and extent of fibrotic lesions in lungs of bleomycin-treated wild-type mice but did not further reduce fibrosis in PAR-2-deficient mice. | NA | {
"id": 10899,
"name": "JTB",
"pos": [
172,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
160,
8
]
} |
Intrahippocampal infusion studies with the AMPA-specific inhibitor GYKI 52466 [4-(8-methyl-9H-1,3-dioxolo[4,5-h][2,3]benzodiazepin-5-yl)-benzenamine hydrochloride], a GluR1-specific TAT-S845 peptide, showed that GluR1/2 was essential for the development of manic/hedonic-like behaviors such as amphetamine-induced hyperactivity. | NA | {
"id": 6898,
"name": "TAT",
"pos": [
182,
3
]
} | {
"id": "C0338831",
"name": "Manic",
"pos": [
257,
5
]
} |
The associated genes for APOE4 non-carriers were enriched in hereditary disorder, neurological disease and psychological disorders. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
25,
5
]
} | {
"id": "C0004936",
"name": "Mental disorders",
"pos": [
107,
23
]
} |
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