text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
This study aimed to investigate systemic inflammation in progressive MS and its relationship with disease progression, using flow cytometry and gene expression analysis of CD4(+) and CD8(+)T-cells, B-cells, monocytes and dendritic cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
172,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
41,
12
]
} |
In addition, overexpression of several proteins not described previously to be elevated in human pancreatic cancer (CD9, perlecan, SDF4, apoE, and fibronectin receptor) was confirmed by immunohistochemical labeling using pancreatic cancer tissue microarrays suggesting that these could be further pursued as potential biomarkers. | NA | {
"id": 928,
"name": "CD9",
"pos": [
116,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
221,
17
]
} |
The present study describes the findings with respect to expression of this gene in human lymphomas studied by Fluorescent In Situ Hybridization (FISH). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
146,
4
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
90,
9
]
} |
The positive rate of SMP30 antibody was not related to the age of patients, tumor size, metastasis and infections of HBV, but the positive rate for SMP30 antibody in the HCC sera with alpha-fetoprotein (AFP) negative was higher (43.6%) compared with that AFP positive (26.2%). | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
170,
3
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
103,
10
]
} |
The results of the gene microarray study showed that HOTAIR reprogrammed the gene expression profile of ESCC cells, and the gene ontology analysis revealed an enrichment in genes that are important for tumorigenesis, such as genes involved in cell migration and the regulation of the cell cycle. | NA | {
"id": 100124700,
"name": "HOTAIR",
"pos": [
53,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
202,
13
]
} |
Müllerian inhibiting substance (MIS) is produced in Sertoli cells of fetal testis and causes regression of müllerian ducts in male embryos. | NA | {
"id": 268,
"name": "AMH",
"pos": [
32,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
93,
10
]
} |
Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population. | genomic_alterations | {
"id": 79728,
"name": "PALB2",
"pos": [
15,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
81,
13
]
} |
The counter-ligand of VCAM-1 - α4β1 integrin, also known as very late antigen-4 (VLA-4) - was more abundant on circulating CD4<sup>+</sup> T cells and was also expressed by a significant proportion of blood CD8<sup>+</sup> T cells and neutrophils in AD mice. | biomarker | {
"id": 7412,
"name": "VCAM1",
"pos": [
22,
6
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
274,
2
]
} |
Representative IPAH plasmablast recombinant antibodies stimulated human umbilical vein endothelial cells to produce cytokines and overexpress the adhesion molecule ICAM-1. | biomarker | {
"id": 3383,
"name": "ICAM1",
"pos": [
164,
6
]
} | {
"id": "C0152171",
"name": "Idiopathic pulmonary hypertension",
"pos": [
15,
4
]
} |
To study the association between FLG mutations, skin barrier impairment and clinical eczema at 3 months of age. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
33,
3
]
} | {
"id": "C0013595",
"name": "Eczema",
"pos": [
85,
6
]
} |
Three of the 4 patients with p53 missense mutations had invasion of the cancer beyond the thyroid capsule compared to 2 of the 17 remaining RITC patients. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
29,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
72,
6
]
} |
The PKCR overlaps with a region responsible for "infantile convulsions and paroxysmal choreoathetosis" (MIM 602066), a recently recognized clinical entity with benign infantile convulsions and nonkinesigenic paroxysmal dyskinesias. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
104,
3
]
} | {
"id": "C1869117",
"name": "Paroxysmal nonkinesigenic dyskinesia",
"pos": [
75,
26
]
} |
We conclude from these results that hypoxic regimens that promote PH pathogenesis and HPASMC proliferation reduce PPARγ expression and activity through ERK1/2-, p65-, and Nox4-dependent pathways. | NA | {
"id": 64689,
"name": "GORASP1",
"pos": [
161,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
36,
7
]
} |
Frequent p53 gene mutations and novel alleles in familial breast cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
9,
3
]
} | {
"id": "C0346153",
"name": "Breast Cancer, Familial",
"pos": [
49,
22
]
} |
Generally, Hsp20 was identified as a novel anti-HCV, anti-HSV and anti-HIV agent, but Hsp27 was efficient in the suppression of HSV infection. | biomarker | {
"id": 3316,
"name": "HSPB2",
"pos": [
86,
5
]
} | {
"id": "C0019348",
"name": "Herpes Simplex Infections",
"pos": [
128,
13
]
} |
This results in multiple peroxisomal abnormalities which includes a deficiency of acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT), alkyl-dihydroxyacetonephosphate synthase (alkyl-DHAP synthase), peroxisomal 3-ketoacyl-CoA thiolase and phytanoyl-CoA hydroxylase, although there are differences in the extent of the deficiencies observed. | NA | {
"id": 8443,
"name": "GNPAT",
"pos": [
134,
6
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
37,
13
]
} |
RAGE and arthritis: the G82S polymorphism amplifies the inflammatory response. | genomic_alterations | {
"id": 5891,
"name": "MOK",
"pos": [
0,
4
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
9,
9
]
} |
Added lactadherin enhances the adhesion via the integrin alphaVbeta3. | NA | {
"id": 4240,
"name": "MFGE8",
"pos": [
6,
11
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
31,
8
]
} |
These results indicate that HG- or diabetes-induced downregulation of Cx30.2 expression and decrease in GJIC activity play a critical role in the development of retinal vascular lesions in early DR. | NA | {
"id": 349149,
"name": "GJC3",
"pos": [
70,
6
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
35,
8
]
} |
A blood sample was also taken from the same population to test for allelic association between schizophrenia and a polymorphism close to the promoter site of the cytosolic phospholipase-A2 gene which is mapped to chromosome 1q25. | genomic_alterations | {
"id": 5321,
"name": "PLA2G4A",
"pos": [
162,
26
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
95,
13
]
} |
Male Sprague-Dawley rats were subjected to pMCAO, and ischemic penumbra was collected at 2, 24 h, 3, 7, and 21 days after inducing ischemia, ADAMTS1, ADAMTS8, and the four housekeeping genes were quantified using real-time polymerase chain reaction (PCR). | NA | {
"id": 11095,
"name": "ADAMTS8",
"pos": [
150,
7
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
131,
8
]
} |
We compared nociceptive thresholds (heat and mechanical) and pain behavior in response to a sustained stimulus (formalin test) between Fischer and Lewis rats that have different HPA axis activity. | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
178,
3
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
61,
4
]
} |
In 52 cervical cancer patients treated with neoadjuvant chemotherapy, we investigated whether the levels of phosphorylated Wee1 (pWee1), a key G2/M checkpoint kinase, and γ-H2AX, a marker of DNA double-strand breaks, discriminated between patients with a pathological complete response (pCR) and those with residual disease. | NA | {
"id": 7465,
"name": "WEE1",
"pos": [
123,
4
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
307,
16
]
} |
Positive correlations between TNF- alpha , IFN- gamma , iNOS, IDO, and mild/moderate MSF suggest that type 1 polarization plays a protective role. | NA | {
"id": 2335,
"name": "FN1",
"pos": [
85,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
71,
4
]
} |
Transfection of BRAF(V600E) into melanoma cells with wild-type BRAF induced significantly more hypoxic tolerance. | NA | {
"id": 673,
"name": "BRAF",
"pos": [
63,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
95,
7
]
} |
Here, we described a Chinese family with 2 members having juvenile-onset myoclonus and identified a novel SCN2A point mutation within this family. | genomic_alterations | {
"id": 6326,
"name": "SCN2A",
"pos": [
106,
5
]
} | {
"id": "C0027066",
"name": "Myoclonus",
"pos": [
73,
9
]
} |
Microarray-based gene expression data unexpectedly demonstrated a significant number of up- or down-regulated immune- and inflammation-related genes, including many well-known interferon (IFN)-induced genes (e.g., IFI44L, PSMB8, IRF5, PSMB10, IFI27, PSB9_HUMAN, IFIT2, TRAIL, IFIT1, PSB8_HUMAN, IRF1, B2M and GBP1), major histocompatibility complex (MHC) class I molecules (e.g., HLA-B, HLA-C, HLA-F and HLA-H) and interleukin (IL)-related genes (e.g., IL20RB, GALT, IL7, IL1B, IL11, IL1F8, IL1A, IL6 and IL7R), which was confirmed by qRT-PCR. | NA | {
"id": 2633,
"name": "GBP1",
"pos": [
309,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
122,
12
]
} |
One of these roles is that it provides an effective autoregulatory mechanism which protects the host from excessive inflammation and tissue damage which is in part initiated by the Th1 driven pro-inflammatory immune responses during infections (such as TB, HIV and malaria). | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
181,
3
]
} | {
"id": "C0024530",
"name": "Malaria",
"pos": [
265,
7
]
} |
Secondly, we found a correlation between PF4 and TFPI and between TFPI and thrombosis, suggesting that erythromelalgia may be caused by platelet-mediated endothelial activation. | biomarker | {
"id": 7035,
"name": "TFPI",
"pos": [
49,
4
]
} | {
"id": "C0014804",
"name": "Erythromelalgia",
"pos": [
103,
15
]
} |
The data reported here are the first to indicate that miR-27a plays an oncogenic role by targeting Spry2 and modulating the malignant, biological behavior of pancreatic cancer cells. | NA | {
"id": 10253,
"name": "SPRY2",
"pos": [
99,
5
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
158,
17
]
} |
C-X-C motif chemokine receptor type 2 (CXCR2) receptor-mediated signaling has been shown to play a critical role during bone-related inflammations and its ligands C-X-C motif chemokine ligand 6 (CXCL6) and 8 (CXCL8) aid in the resorption of bone during bone metastasis. | biomarker | {
"id": 3576,
"name": "CXCL8",
"pos": [
209,
5
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
253,
15
]
} |
Taken together, these results indicate that adhesion molecules, and principally CD54, are involved in the efficiency of recognition by effector chimeric ζ. | NA | {
"id": 3383,
"name": "ICAM1",
"pos": [
80,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
44,
8
]
} |
Trastuzumab is considered effective against human epidermal growth factor receptor (HER)-2-positive breast cancer as assessed by immunohistochemistry (IHC) and fluorescence or chromogenic in situ hybridization (FISH/CISH) on biopsy material. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
211,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
100,
13
]
} |
Low risk HLA-DQ and increased body mass index in newly diagnosed type 1 diabetes children in the Better Diabetes Diagnosis study in Sweden. | NA | {
"id": 3117,
"name": "HLA-DQA1",
"pos": [
9,
6
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
30,
15
]
} |
These results confirm ATR, MED1, and CHK1 as targets of the mutator pathway in stomach tumorigenesis, and also suggest a potential role of MED1 increasing, together with hMSH3 and hMSH6, the genomic instability in the mutator pathway as a secondary mutator. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
22,
3
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
191,
19
]
} |
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": 968,
"name": "CD68",
"pos": [
94,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
87,
6
]
} |
In contrast to earlier published data, Xp11 translocation RCC frequently expressed renal transcription factors PAX8 (16/21 cases) and PAX2 (14/21 cases), whereas only 1 of 21 cases focally expressed MiTF and only 5 of 21 overexpressed p21. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
235,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
44,
13
]
} |
Fifty-seven consecutive pancreaticoduodenectomy resection specimens (52 with a malignancy and five without) and the ductal brush cytology specimens collected post-operatively from these resection specimens were compared for the presence of K-ras and p53 alterations. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
250,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
79,
10
]
} |
A retinoic acid-inducible mRNA from human erythroleukemia cells encodes a novel tissue transglutaminase homologue. | biomarker | {
"id": 7052,
"name": "TGM2",
"pos": [
80,
23
]
} | {
"id": "C0023440",
"name": "Acute Erythroblastic Leukemia",
"pos": [
42,
15
]
} |
The expression of 24 families of T cell receptor beta chain variable region (TCRVbeta) and cytokine profiles in isolated CD4(+) and CD8(+) subsets, as well as the cytokine profiles in purified epithelial cells from the tumor tissue and the residual benign tissue of patients with gastric carcinoma, was detected by a highly sensitive radioactivity labeled semi-quantitative RT-PCR technique. | NA | {
"id": 920,
"name": "CD4",
"pos": [
121,
3
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
280,
17
]
} |
Tumour-to-tumour metastasis from papillary thyroid carcinoma with BRAF mutation to lung adenocarcinoma with EGFR mutation: the utility of mutation-specific antibodies. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
66,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
0,
6
]
} |
The prognostic potential of bone marrow cyclin E and P27, in Egyptian patients with acute myeloid leukemia. | NA | {
"id": 898,
"name": "CCNE1",
"pos": [
40,
8
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
84,
22
]
} |
Significant differences with regard to O & M score (p = 0.000), SF-36 score (p = 0.001 to p = 0.02; without MCS domain), movement deficit (p = 0.001), grade of osteoarthritis (p = 0.005) and pain (p = 0.001) could be verified under consideration of the reduction quality. | genomic_alterations | {
"id": 55034,
"name": "MOCOS",
"pos": [
108,
3
]
} | {
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
160,
14
]
} |
The increased expression of receptors for IL-12 in granulomatous diseases such as pulmonary tuberculosis and sarcoidosis provides evidence supporting the commitment of lymphocytes to a Th1-type cytokine profile in vivo. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
185,
3
]
} | {
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
82,
22
]
} |
It induced early generation of reactive nitrogen and oxygen species (RNOS), thus producing oxidative stress mediated mitochondrial membrane potential (MMP) loss leading to the release of cytochrome c, the translocation of Bax to mitochondria and apoptosis-inducing factor to the nuclei. | NA | {
"id": 54205,
"name": "CYCS",
"pos": [
187,
12
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
205,
13
]
} |
Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. | genomic_alterations | {
"id": 675,
"name": "BRCA2",
"pos": [
31,
5
]
} | {
"id": "C1336076",
"name": "Sporadic Breast Carcinoma",
"pos": [
67,
22
]
} |
Evaluation of Serum Nidogen-2 as a Screening and Diagnostic Tool for Ovarian Cancer. | biomarker | {
"id": 22795,
"name": "NID2",
"pos": [
20,
9
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
69,
14
]
} |
It has been shown that the SONIC HEDGEHOG (SHH)-GLI and MAPK signaling pathway regulate cell growth in many tumors including melanoma and interact with each other in the regulation of cell proliferation and survival. | NA | {
"id": 6469,
"name": "SHH",
"pos": [
27,
14
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
125,
8
]
} |
The levels of IL-8 during peritonitis were not only related to the etiological microorganism but also to other unknown factor(s). | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
14,
4
]
} | {
"id": "C0031154",
"name": "Peritonitis",
"pos": [
26,
11
]
} |
Age-specific relationship between CD14 and atopy in a cohort assessed from age 8 to 25 years. | NA | {
"id": 929,
"name": "CD14",
"pos": [
34,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
43,
5
]
} |
Combining these results with our previous series, we have detected germline SDHB or SDHD mutations in 2/12 (17%) of familial PC only kindreds, 4/5 (80%) of familial PC and HNPGL cases, 1/10 of sporadic multiple PC cases and 2/4 (50%) of paediatric PCs. | NA | {
"id": 6392,
"name": "SDHD",
"pos": [
84,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
193,
8
]
} |
Coamplification of CDK4 and MDM2 was detected in one gliosarcoma. | biomarker | {
"id": 4193,
"name": "MDM2",
"pos": [
28,
4
]
} | {
"id": "C3899658",
"name": "Childhood Gliosarcoma",
"pos": [
53,
11
]
} |
Clinical data and response to GH treatment were compared between GHR d3+and d3- IGHD and MPHD patients born either small for gestational age (SGA) or appropriate for gestational age (AGA). | NA | {
"id": 2690,
"name": "GHR",
"pos": [
65,
3
]
} | {
"id": "C0235991",
"name": "Small for gestational age (disorder)",
"pos": [
115,
25
]
} |
Collectively, our results provide the first clue towards understanding the contribution of DVL1-mediated acquired resistance to 5-FU in HepG2/5-FU cells, suggesting a promising therapeutic strategy for liver cancer resistant to 5-FU. | biomarker | {
"id": 1855,
"name": "DVL1",
"pos": [
91,
4
]
} | {
"id": "C0279000",
"name": "Liver and Intrahepatic Biliary Tract Carcinoma",
"pos": [
202,
12
]
} |
In this paper, we reviewed data regarding to the pivotal role played by the zinc-gene interaction in affecting some relevant cytokines (IL-6 and TNF-alpha) and heat shock proteins (Hsp70-2) in ageing, successful ageing (nonagenarians) and in some age-related diseases (atherosclerosis and infections). | NA | {
"id": 3304,
"name": "HSPA1B",
"pos": [
181,
7
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
289,
10
]
} |
We suggested a novel HIF-1alpha induction pathway by EPO under hypoxic conditions. | NA | {
"id": 2056,
"name": "EPO",
"pos": [
53,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
63,
7
]
} |
Here we show that hepatic clearance of NH<sub>4</sub><sup>+</sup> is impaired in TNFα deficient as well as TNFR1&TNFR2 double knockout mice, which both develop hyperammonemia. | biomarker | {
"id": 7132,
"name": "TNFRSF1A",
"pos": [
131,
5
]
} | {
"id": "C0220994",
"name": "Hyperammonemia",
"pos": [
184,
14
]
} |
Several of the multiple myeloma survival genes, especially MCL1, TNK2, CDK11, and WBSCR22, exhibited differential expression in primary plasma cells compared with other human primary somatic tissues. | NA | {
"id": 10188,
"name": "TNK2",
"pos": [
65,
4
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
15,
16
]
} |
Partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency was found in the propositus and an asymptomatic maternal uncle. | NA | {
"id": 3251,
"name": "HPRT1",
"pos": [
56,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
108,
12
]
} |
The human immunodeficiency virus (HIV) envelope protein gp120 promotes neuronal injury which is believed to cause HIV-associated neurocognitive disorders. | NA | {
"id": 30816,
"name": "ERVW-1",
"pos": [
39,
16
]
} | {
"id": "C4041080",
"name": "Neurocognitive Disorders",
"pos": [
129,
24
]
} |
Inhibition of mTORC1 activity by rapamycin treatment or haploinsufficiency of Rheb through genetic modification in mice impaired intestinal cell proliferation and induced cell apoptosis, leading to high mortality in dextran sodium sulfate- and 2,4,6-trinitrobenzene sulfonic acid-induced colitis models. | NA | {
"id": 6009,
"name": "RHEB",
"pos": [
78,
4
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
288,
7
]
} |
Mutations in the androgen receptor (AR) gene cause a broad spectrum of abnormal phenotypes in humans, ranging from mild through partial to complete androgen insensitivity. | NA | {
"id": 367,
"name": "AR",
"pos": [
17,
17
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
115,
4
]
} |
To investigate the occurrence of 17p (p53) loss of heterozygosity (LOH) and increased 4N or aneuploidy in gastric precancerous lesions (GPL), and their association with Helicobacter pylori (H pylori) infection. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
38,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
92,
10
]
} |
We identified 13 common genes (ADARB2, CEACAM6, CNTNAP2, COL19A1, DEF4, DRAXIN, FCER2, HBG1, NCAPG2, PVRL2, SLC2A14, SNCA, and TCL1B) showing significant differential expression between G2019S-associated PD and asymptomatic carriers and also between idiopathic PD and controls but not between untreated and treated patients. | NA | {
"id": 1310,
"name": "COL19A1",
"pos": [
57,
7
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
211,
12
]
} |
Dual therapeutic effects of interferon-alpha gene therapy in a rat hepatocellular carcinoma model with liver cirrhosis. | therapeutic | {
"id": 3439,
"name": "IFNA1",
"pos": [
28,
19
]
} | {
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
103,
15
]
} |
We think that the non-coding rs2072590 variant may contribute to OC susceptibility by regulating the gene expression of HOXD1 and HOXD3. | genomic_alterations | {
"id": 3231,
"name": "HOXD1",
"pos": [
120,
5
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
65,
2
]
} |
Six single nucleotide polymorphisms (SNPs) in ADIPOQ and ADIPOR1/2 were genotyped in 59 infertile Japanese women with PCOS and 97 healthy Japanese controls. | NA | {
"id": 9370,
"name": "ADIPOQ",
"pos": [
46,
6
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
88,
9
]
} |
SAA1 is one of the few modifiers identified in humans: this gene influences the risk of renal amyloidosis (RA) in patients with familial Mediterranean fever (FMF), a Mendelian autoinflammatory disorder associated with mutations in MEFV. | genomic_alterations | {
"id": 4210,
"name": "MEFV",
"pos": [
231,
4
]
} | {
"id": "C3860213",
"name": "Autoinflammatory disorder",
"pos": [
176,
25
]
} |
Genetic analyses demonstrated that EGFR and PI3K initiate malignant neoplastic transformation via a combinatorial genetic network composed primarily of other pathways commonly mutated or activated in human glioma, including the Tor, Myc, G1 Cyclins-Cdks, and Rb-E2F pathways. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
35,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
68,
25
]
} |
Sex differences in peak mean arterial pressure in wild-type were lost in Rag1(-/-) mice (mm Hg: wild-type-F, 136±4.9 versus wild-type-M, 153±1.7; P<0.02; Rag1(-/-)-F, 135±2.1 versus Rag1(-/-)-M, 141±3.8). | NA | {
"id": 5896,
"name": "RAG1",
"pos": [
182,
4
]
} | {
"id": "C0428886",
"name": "Mean blood pressure",
"pos": [
24,
22
]
} |
DDAH1, but not DDAH2, mRNA levels were reduced, whereas miR-21 levels were elevated in lung tissues from patients with pulmonary arterial hypertension and mice with pulmonary hypertension exposed to 2 weeks of hypoxia. | NA | {
"id": 406991,
"name": "MIR21",
"pos": [
56,
6
]
} | {
"id": "C0020542",
"name": "Pulmonary Hypertension",
"pos": [
165,
22
]
} |
Haplotypes consisting of these SNPs in TLR4 and STXBP5L were strongly associated with fibrosis risk (global P=3.04 x 10(-5) and 4.49 x 10(-6), respectively). | NA | {
"id": 9515,
"name": "STXBP5L",
"pos": [
48,
7
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
86,
8
]
} |
In our method the amount of SMN exon 7 PCR product is compared with the amount of a co-amplified PCR product of the retinoblastoma (RB1) exon containing a DraI restriction site. | NA | {
"id": 6606,
"name": "SMN1",
"pos": [
28,
3
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
116,
14
]
} |
Early onset familial Alzheimer's disease with spastic paraparesis (FAD-SP) has been associated with mutations of the presenilin 1 gene (PSEN1). | NA | {
"id": 675,
"name": "BRCA2",
"pos": [
67,
3
]
} | {
"id": "C0037771",
"name": "Paraparesis, Spastic",
"pos": [
46,
19
]
} |
Here, we tested whether delivery of the normal (wt) human ABCA4 gene to the subretinal space of the Abca4 -/- mice via lentiviral vectors would correct the disease phenotype; that is, reduce accumulation of the lipofuscin pigment A2E. | NA | {
"id": 24,
"name": "ABCA4",
"pos": [
100,
5
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
222,
7
]
} |
This suggested that Smad7 expression was not augmented by the TGF-beta signal in GEN in vivo in anti-Thy-1 nephritis. | NA | {
"id": 348654,
"name": "GEN1",
"pos": [
81,
3
]
} | {
"id": "C0027697",
"name": "Nephritis",
"pos": [
107,
9
]
} |
We aimed to explore the potential roles of CCN3 in inflammation in atherosclerosis. | NA | {
"id": 4856,
"name": "CCN3",
"pos": [
43,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
51,
12
]
} |
NY-ESO-1 Vaccination in Combination with Decitabine Induces Antigen-Specific T-lymphocyte Responses in Patients with Myelodysplastic Syndrome. | biomarker | {
"id": 1485,
"name": "CTAG1B",
"pos": [
0,
8
]
} | {
"id": "C3900098",
"name": "Adult Myelodysplastic Syndrome",
"pos": [
117,
24
]
} |
Here, we demonstrate that HNRNPAB is overexpressed in highly metastatic cells and tumor tissues from patients with hepatocellular carcinoma (HCC) with recurrence. | NA | {
"id": 3182,
"name": "HNRNPAB",
"pos": [
26,
7
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
115,
24
]
} |
SUZ12 and EZH2 are two main components of polycomb repressive complex 2 (PRC2) that is known to be of great importance in tumorigenesis. | NA | {
"id": 23512,
"name": "SUZ12",
"pos": [
0,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
122,
13
]
} |
However, there may be a small number of exceptions in which individuals have normally occurring (but relatively rare) amino acid substitutions in one of their pigments that significantly affect the physiology of the cone class containing that pigment, so as to reduce the amplitude of its contribution to the ERG. | NA | {
"id": 2078,
"name": "ERG",
"pos": [
309,
3
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
243,
7
]
} |
The regression of BCC despite sustained Hedgehog signaling activity seems to be mediated by tumor-stromal interactions via Wnt5a signaling. | NA | {
"id": 7474,
"name": "WNT5A",
"pos": [
123,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
4,
10
]
} |
We investigated whether SNPs in the purinergic receptor (P2X<sub>7</sub>R) and apolipoprotein (APO) E genes, both involved in a series of inflammatory responses, are associated to HF or cognitive impairment and are able to predict post-discharge mortality in the elderly. | genomic_alterations | {
"id": 22953,
"name": "P2RX2",
"pos": [
36,
19
]
} | {
"id": "C0018801",
"name": "Heart failure",
"pos": [
192,
2
]
} |
COX-2 Inhibitors, Aspirin, and Other Potential Anti-Inflammatory Treatments for Psychiatric Disorders. | biomarker | {
"id": 4513,
"name": "COX2",
"pos": [
0,
5
]
} | {
"id": "C0004936",
"name": "Mental disorders",
"pos": [
80,
21
]
} |
Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation. | NA | {
"id": 6335,
"name": "SCN9A",
"pos": [
129,
6
]
} | {
"id": "C1864365",
"name": "Acromesomelia",
"pos": [
89,
13
]
} |
The cytotoxicity of SB-921 was evaluated in a series of germinal center (GC-DLBCL) and post-germinal center (ABC-DLBCL) DLBCL cell lines and a murine lymphoma xenograft model. | biomarker | {
"id": 10058,
"name": "ABCB6",
"pos": [
109,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
150,
8
]
} |
The expression of p21 protein was detected in 30 of 97 tumors (30.9%) and DNA aneuploidy was detected in 36 of 97 tumors (37.1%). | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
18,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
78,
10
]
} |
This article describes a new extracellular domain--AMOP, for adhesion-associated domain in MUC4 and other proteins. | NA | {
"id": 4585,
"name": "MUC4",
"pos": [
91,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
61,
8
]
} |
The present study provide evidence for the first time that the TATC insertion/deletion polymorphism in RTN4 3'-UTR may contributes to ccRCC risk in Chinese Han population. | genomic_alterations | {
"id": 57142,
"name": "RTN4",
"pos": [
103,
4
]
} | {
"id": "C0279702",
"name": "Conventional (Clear Cell) Renal Cell Carcinoma",
"pos": [
134,
5
]
} |
Emerging evidence indicates that TSLP is also involved in chronic inflammatory (i.e., chronic obstructive pulmonary disease and celiac disease) and autoimmune (e.g., psoriasis, rheumatoid arthritis) disorders and several cancers. | biomarker | {
"id": 85480,
"name": "TSLP",
"pos": [
33,
4
]
} | {
"id": "C0033860",
"name": "Psoriasis",
"pos": [
166,
9
]
} |
Collectively, altered p53 expression cooperates with overexpression of EGFR in Schwann cells to enhance in vitro oncogenic properties and tumorigenesis and progression in vivo. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
71,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
138,
13
]
} |
Aberrant expression of eIF4E promotes tumorigenesis and has been implicated in cancer development and progression. | NA | {
"id": 1977,
"name": "EIF4E",
"pos": [
23,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
38,
13
]
} |
TRB3 has been revealed to be involved in insulin resistance in the liver by interacting directly with Akt and blocking its activation. | NA | {
"id": 50838,
"name": "TAS2R13",
"pos": [
0,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
41,
18
]
} |
Carriers of c.454-397T/T or c.454-397T/C genotypes had significantly (p = 0.002 and p = 0.004, respectively) higher mean systolic blood pressure (SBP), than carriers of c.454-397C/C, and a similar relationship was observed for diastolic blood pressure (DBP). | NA | {
"id": 1628,
"name": "DBP",
"pos": [
253,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
227,
24
]
} |
Immunohistochemically, the tumor was reactive for vimentin, epithelial membrane antigen, cytokeratin AE1/AE3, smooth muscle actin, and BAF47/INI-1, and negative for glial fibrillary acidic protein, neurofilament protein, S100 protein, CK7, CK20, HMB-45, MIC2, and Bcl-2. | NA | {
"id": 6508,
"name": "SLC4A3",
"pos": [
105,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
27,
5
]
} |
Recent studies of human genetic variants in p53 and MDM2 have shown that single nucleotide polymorphisms (SNPs) can affect p53 signaling, confer cancer risk, and suggest that the pathway is under evolutionary selective pressure (1-4). | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
44,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
145,
6
]
} |
Potential role for concurrent abnormalities of the cyclin D1, p16CDKN2 and p15CDKN2B genes in certain B cell non-Hodgkin's lymphomas. Functional studies in a cell line (Granta 519). | genomic_alterations | {
"id": 595,
"name": "CCND1",
"pos": [
51,
9
]
} | {
"id": "C0019829",
"name": "Hodgkin Disease",
"pos": [
113,
19
]
} |
From 583 cases of acute lymphoblastic leukemia (ALL) and 181 cases of acute myeloid leukemia (AML) in childhood, seven patients were identified to have t(11;19) (q23;p13) by sequential cytogenetic analyses. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
166,
3
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
70,
22
]
} |
Here we show that melusin expression was increased during compensated cardiac hypertrophy in mice subjected to 1 week pressure overload, but returned to basal levels in LV that have undergone dilation after 12 weeks of pressure overload. | NA | {
"id": 26548,
"name": "ITGB1BP2",
"pos": [
19,
7
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
71,
19
]
} |
This case involves an 8-year-old female dog that developed signs of exercise intolerance, muscle weakness and polyuria/polydipsia due to an adrenocorticotropic hormone-secreting pituitary adenoma. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
140,
27
]
} | {
"id": "C0085602",
"name": "Polydipsia",
"pos": [
119,
10
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.