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Linkage studies and haplotype analysis carried out in 16 affected and nine unaffected members of this family showed that the underlying locus maps to a 6.4 cM interval on chromosome 7q36, between EN2 and D7S2423, a region to which a locus for preaxial polydactyly and triphalangeal thumb-polysyndactyly has previously been mapped. | NA | {
"id": 2020,
"name": "EN2",
"pos": [
196,
3
]
} | {
"id": "C0241397",
"name": "Triphalangeal thumb",
"pos": [
268,
19
]
} |
By using FISH and long-range PCR approaches, we have precisely mapped the breakpoints associated with this translocation in a gene-free region in chromosome 3 and in the third intron of the ZNF407 gene in chromosome18. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
9,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
107,
13
]
} |
Both the proband and her affected brother had RP, PAP, mild mental retardation, morbid obesity (BMI >50 and 37, respectively), lobulated kidneys with prominent calyces and diabetes mellitus (diagnosed at ages 33 and 30, respectively). | genomic_alterations | {
"id": 50807,
"name": "ASAP1",
"pos": [
50,
3
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
175,
17
]
} |
In addition, site-directed mutagenesis experiments and chromatin immunoprecipitation revealed that from the three putative hypoxia responsive elements (HRE) within the STK15 promoter only HRE-2 was functional and bound HIF-1. | NA | {
"id": 6790,
"name": "AURKA",
"pos": [
168,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
123,
7
]
} |
We concluded that BRAF(V600E) was correlated with indicators of tumor aggressiveness in our study population. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
18,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
64,
5
]
} |
An increase in the CD28 mRNA expression was accompanied by a decrease in the CTLA-4 mRNA expression in decidual tissues from human miscarriage. | NA | {
"id": 1493,
"name": "CTLA4",
"pos": [
77,
6
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
131,
11
]
} |
Activating BRAF or NRAS mutations have been found in 80% of human sporadic melanomas, but only one of these genetic alterations could be detected in each tumour. | NA | {
"id": 673,
"name": "BRAF",
"pos": [
11,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
66,
8
]
} |
In binomial regression models with variables age, sex, race, aspirin use, treatment, and ODC1 genotype, treatment was the only statistically significant factor associated with differences in adenoma recurrence or tissue polyamine response. | NA | {
"id": 4953,
"name": "ODC1",
"pos": [
89,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
12,
10
]
} |
Co-infected patients had decreased intrahepatic mRNA levels of IFN-gamma (P = 0.09), IL-4 (P = 0.05) and IL-12p35 (P = 0.04) compared with mono-infected patients, while IL-10 was increased (P = 0.07). | NA | {
"id": 3565,
"name": "IL4",
"pos": [
85,
4
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
139,
4
]
} |
For example, we identified both known and new endometrial cancer hotspots in the tyrosine kinase domain of the FGFR2 protein, one of which is also a hotspot in breast cancer, and found new two hotspots in the Immunoglobulin I-set domain in colon cancer. | genomic_alterations | {
"id": 2263,
"name": "FGFR2",
"pos": [
111,
5
]
} | {
"id": "C0007102",
"name": "Malignant tumor of colon",
"pos": [
240,
12
]
} |
In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men. | genomic_alterations | {
"id": 3077,
"name": "HFE",
"pos": [
43,
3
]
} | {
"id": "C0015672",
"name": "Fatigue",
"pos": [
176,
7
]
} |
Genetic variants in FAAH have inconsistently been associated with obesity. | NA | {
"id": 79152,
"name": "FA2H",
"pos": [
20,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
66,
7
]
} |
Interestingly, the addition of the MYC probe allowed the diagnosis of an additional 7% of patients with tuberculosis and rapid screening of nontuberculous mycobacteria (NTM). | NA | {
"id": 4609,
"name": "MYC",
"pos": [
35,
3
]
} | {
"id": "C0041296",
"name": "Tuberculosis",
"pos": [
104,
12
]
} |
Esophageal biopsies from 243 patients with BE were evaluated at baseline for TP53 and CDKN2A (p16) alterations, tetraploidy, and aneuploidy using sequencing; loss of heterozygosity (LOH); methylation-specific PCR; and flow cytometry. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
77,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
129,
10
]
} |
On the other hand, the p53 mutation frequency was higher in patients with premalignant tumors or nonmelanocytic skin cancer than in patients with only benign tumors. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
23,
3
]
} | {
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
74,
12
]
} |
We conclude that this common MTHFR gene polymorphism does not exert a significant influence on the risk of developing ICVD or ICA stenosis, and does not cause the increased level of Hcy observed in ICA stenosis. | NA | {
"id": 4524,
"name": "MTHFR",
"pos": [
29,
10
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
202,
8
]
} |
Down-regulation of plasminogen activator inhibitor 1 expression promotes myocardial neovascularization by bone marrow progenitors. | NA | {
"id": 5054,
"name": "SERPINE1",
"pos": [
19,
33
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
84,
18
]
} |
beta-Catenin is a pivotal molecule of the Wnt-signalling pathway, involved in regulation of developmental and oncogenic processes as well as in intercellular adhesion. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
0,
12
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
158,
8
]
} |
Molecular heterogeneity assessment by next-generation sequencing and response to gefitinib of EGFR mutant advanced lung adenocarcinoma. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
94,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
115,
19
]
} |
Here we studied the entire coding sequence of RAP in genomic DNA samples from 18 patients with primary hypothyroidism not due to thyroid autoimmunity or dysgenesis. | NA | {
"id": 4043,
"name": "LRPAP1",
"pos": [
46,
3
]
} | {
"id": "C4316995",
"name": "Primary Hypothyroidism",
"pos": [
95,
22
]
} |
FISH analysis detected the same cytogenetic rearrangement in all patients, suggesting that the dic(4;17)(p11;p11) is a recurrent translocation in SLL/CLL. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
109,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
129,
13
]
} |
To analyse the expression of several mucins (MUC1, MUC2, MUC3, MUC5AC and MUC6), epidermal growth factor receptor (EGFR), v-erb-b2 erythroblastic leukaemia viral oncogene homologue 2 (HER2), thyroid transcription factor-1 (TTF-1), caudal type homeobox 2 (CDX2) and cytokeratin 20 (CK20), and the presence of mutations of EGFR, KRAS and HER2 in congenital pulmonary airway malformations (CPAM). | NA | {
"id": 4583,
"name": "MUC2",
"pos": [
53,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
374,
13
]
} |
In a rat ovariectomy model of estrogen deficiency, administration of Ang II (200 ng/kg/min) accelerated the increase in TRAP activity, accompanied by a significant decrease in bone density and an increase in urinary deoxypyridinoline. | NA | {
"id": 54,
"name": "ACP5",
"pos": [
120,
4
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
176,
12
]
} |
To determine whether IL-5 (T-746C) and TBXA2R (T924C) gene polymorphisms are associated with asthma phenotype and pulmonary function in Korean children with atopic and nonatopic asthma. | NA | {
"id": 6915,
"name": "TBXA2R",
"pos": [
39,
6
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
157,
6
]
} |
The aim of our present study was to investigate the efficacy of poly(adenosine diphosphate-ribose) polymerase (PARP) inhibition in the development of acute kidney injury in an experimental model of severe acute pancreatitis induced by retrograde infusion of sodium taurocholate into the bile-pancreatic duct. | NA | {
"id": 142,
"name": "PARP1",
"pos": [
111,
4
]
} | {
"id": "C0001339",
"name": "Acute pancreatitis",
"pos": [
205,
18
]
} |
Analysis of brain stem extracts showed that IH, but not continuous hypoxia, increased PHM, but not PAL, activity of PAM and that the increase of PHM activity was associated with a concomitant elevation in the levels of alpha-amidated forms of substance P and neuropeptide Y. IH increased the relative abundance of 42- and 35-kDa forms of PHM ( approximately 1.6- and 2.7-fold, respectively), suggesting enhanced proteolytic processing of PHM, which appears to be mediated by an IH-induced increase of endoprotease activity. | NA | {
"id": 4852,
"name": "NPY",
"pos": [
259,
14
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
67,
7
]
} |
In healthy hearts, BNP gene delivery into the anterior wall of the LV decreased myocardial fibrosis (P<0.01, n=7 to 8) and increased capillary density (P<0.05, n=7 to 8) associated with a 7.3-fold increase in LV BNP peptide levels. | NA | {
"id": 4879,
"name": "NPPB",
"pos": [
212,
3
]
} | {
"id": "C0151654",
"name": "Myocardial fibrosis",
"pos": [
80,
19
]
} |
In this report, we have assessed the role of IFN-gamma as a sensitizing agent in apoptosis mediated by activation of death receptor CD95 in breast tumor cells. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
45,
3
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
140,
12
]
} |
On the initial testing day, 12-month-old APP(695)SWE/co+PS1/DeltaE9 mice spent more time than non-transgenic controls in the open arms of the elevated plus-maze. | NA | {
"id": 5663,
"name": "PSEN1",
"pos": [
56,
3
]
} | {
"id": "C0206655",
"name": "Alveolar rhabdomyosarcoma",
"pos": [
130,
4
]
} |
Immunoreactivity for the CXCR3-ligand CXCL10 was present in the bronchiolar epithelium of smokers with COPD but not in the bronchiolar epithelium of smoking and nonsmoking control subjects. | NA | {
"id": 2833,
"name": "CXCR3",
"pos": [
25,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
149,
7
]
} |
MTHFR polymorphisms of 86 sporadic colorectal cancer (CRC) patients and 100 healthy volunteers were analyzed by PCR-based restriction fragment length polymorphism, and Bcl-2 promoter CGI methylation in 86 CRC tissues and 86 paired nonneoplastic adjacent tissues was determined by methylation-specific PCR. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
168,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
26,
8
]
} |
METHODS: Suitable breast cancer cells (MCF7 and MDA-MB-231) were transfected with anti-SOCS7 ribozymal transgene, to create sub-lines with SOCS7 knockdown verified by RT-PCR. | NA | {
"id": 122809,
"name": "SOCS4",
"pos": [
139,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
18,
13
]
} |
Imbalances of histone acetyltransferase (HAT) and deacetylase activity (DAC) that result in deregulated gene expression are commonly observed in leukemias. | NA | {
"id": 13,
"name": "AADAC",
"pos": [
72,
3
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
145,
9
]
} |
The levels of p-ELK1 expression were significantly higher in carcinoma than in benign (P < 0.001) or high-grade prostatic intraepithelial neoplasia (HGPIN) (P = 0.002) as well as in HGPIN than in benign (P < 0.001). | NA | {
"id": 2002,
"name": "ELK1",
"pos": [
16,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
61,
9
]
} |
A T-cell receptor-specific for a class I MHC (HLA-A2)-restricted epitope of the melanoma antigen tyrosinase was isolated from a CD4(+) tumor-infiltrating lymphocyte (TIL 1383I) and introduced into normal human peripheral blood lymphocytes by retroviral transduction. | NA | {
"id": 920,
"name": "CD4",
"pos": [
128,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
80,
8
]
} |
Transgenic APOE mice carrying an APP mutation and 0, 1 or 2 copies of APOE showed dose-related increases in plaque deposition in the hippocampus and cortex, a clear indication that APOEp promotes A beta deposition. | NA | {
"id": 348,
"name": "APOE",
"pos": [
70,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
108,
6
]
} |
Dietary calcium intake appears to be inversely associated with the risk of metabolic syndrome and may modulate susceptibility to the syndrome in subjects who are minor allele carriers of rs6445834 in ARHGEF3, rs10850335 in TBX5, or rs180349 in BUD13. | genomic_alterations | {
"id": 84811,
"name": "BUD13",
"pos": [
244,
5
]
} | {
"id": "C1857276",
"name": "Trichohepatoenteric Syndrome",
"pos": [
129,
12
]
} |
Lung adenocarcinoma harboring EGFR-activating mutations will inevitably acquire resistance to first-generation EGFR tyrosine kinase inhibitors (TKIs). | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
30,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
0,
19
]
} |
Transcripts of ectonucleotidases (CD39 and CD39L1) together with P2R (P2X7, P2Y2, and P2Y6) are significantly increased in both chronic pancreatitis and pancreatic cancer. | biomarker | {
"id": 5031,
"name": "P2RY6",
"pos": [
86,
4
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
153,
17
]
} |
No association was observed between CYP2E1 genotype and risk for oral cancer in the heavy-smoking group (i.e.> 24 pack-years). | genomic_alterations | {
"id": 1571,
"name": "CYP2E1",
"pos": [
36,
6
]
} | {
"id": "C0153381",
"name": "Malignant neoplasm of mouth",
"pos": [
65,
11
]
} |
Individuals diagnosed with colorectal cancer who carry a COX-2 C(-765) allele and are on NSAIDs have an increased survival in comparison to non-users with the wild type (G(-765)). | genomic_alterations | {
"id": 5743,
"name": "PTGS2",
"pos": [
57,
5
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
27,
17
]
} |
These data suggest that AK2 is indispensable for neutrophil differentiation and indicate a possible causative link between AK2 deficiency and neutropenia in RD. | NA | {
"id": 204,
"name": "AK2",
"pos": [
123,
3
]
} | {
"id": "C0027947",
"name": "Neutropenia",
"pos": [
142,
11
]
} |
This indicates TP53 mutations to be highly prevalent and concordant in primary tumors and associated locoregional metastases and recurrences. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
15,
4
]
} | {
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
114,
10
]
} |
Furthermore, identification of the t(15;17) translocation in CD34+ CD38- blasts indicates that, in at least some cases, the leukemogenic mutation in APL occurs within primitive hematopoietic progenitor cells. | NA | {
"id": 952,
"name": "CD38",
"pos": [
67,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
44,
13
]
} |
Anticardiolipin antibody (ACA), lupus anticoagulant and deficiencies of protein C, protein S and antithrombin III were evaluated by means of enzyme-linked immunosorbent assay (ELISA), dilute Russell Viper Venom time (dRVVT), coagulometric and chromogenic methods. | NA | {
"id": 462,
"name": "SERPINC1",
"pos": [
97,
16
]
} | {
"id": "C4321325",
"name": "Lupus anticoagulant -- finding",
"pos": [
32,
19
]
} |
NRP-1 interacts with GIPC1 and SYX to activate p38 MAPK signaling and cancer stem cell survival. | biomarker | {
"id": 8829,
"name": "NRP1",
"pos": [
0,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
70,
6
]
} |
Pooled odds ratio (OR) with corresponding 95 % confidence interval (95 % CI) was calculated to assess the association of MTHFR C677T with the susceptibility to CRC. | genomic_alterations | {
"id": 4524,
"name": "MTHFR",
"pos": [
121,
5
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
160,
3
]
} |
The TP73 gene encodes a nuclear protein that has high homology with TP53.TP73 is rarely mutated in human cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
68,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
105,
6
]
} |
We reprogrammed CD3+ CD8+, CD3+ CD4+, and natural killer (NK ) cells toward autologous and allogeneic targets such as B cells, Daudi lymphoma, primary melanoma, breast ductal carcinoma, breast adenocarcinoma, and rhabdomyosarcoma. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
21,
3
]
} | {
"id": "C0858252",
"name": "Breast adenocarcinoma",
"pos": [
186,
21
]
} |
We detected the epidermal growth factor receptor L858R, MSH2 R929* and telomerase reverse transcriptase amplification in the lung cancer specimen; CDH1 c.1320+1G>T mutation in the gastric cancer (GC) specimen; and MLH1 c.1896+5G>A germline mutation in the lung and GC specimens by 450 cancer-related gene mutations detection using next-generation sequencing technology. | genomic_alterations | {
"id": 4292,
"name": "MLH1",
"pos": [
217,
4
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
125,
11
]
} |
Most screened sulfonamides showed high potency in inhibiting hCA II, widely involved in glaucoma, epilepsy, edema, and other pathologies (K<sub>i</sub>s in the ranging from 6.32 ± 0.06 to 128.93 ± 23.11 nM). hCA I was inhibited with K<sub>i</sub>s in the range of 6.80 ± 0.10-85.91 ± 7.57 nM, whereas AChE in the range of 60.79 ± 3.51-249.55 ± 7.89 nM. | biomarker | {
"id": 266790,
"name": "HCA1",
"pos": [
220,
5
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
98,
8
]
} |
SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. | genomic_alterations | {
"id": 30813,
"name": "VSX1",
"pos": [
237,
4
]
} | {
"id": "C0022578",
"name": "Keratoconus",
"pos": [
284,
2
]
} |
The breast cancer patients who are heterozygous and homozygous for decreased-function and null alleles of CYP2D6 showed lower plasma concentrations of endoxifen and 4-hydroxytamoxifen compared to patients with homozygous-wild-type allele, resulting in worse clinical outcome in tamoxifen therapy. | genomic_alterations | {
"id": 1565,
"name": "CYP2D6",
"pos": [
106,
6
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
4,
13
]
} |
Thus, we carried out a case-control study to test the association with CML susceptibility of gene variants located in the miRNA machinery genes AGO1 (rs636832) and GEMIN4 (rs2740348), as well as in the miRNA binding sites of the genes BRCA1 (rs799917) and KRAS (rs61764370). | genomic_alterations | {
"id": 50628,
"name": "GEMIN4",
"pos": [
164,
6
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
71,
3
]
} |
Aldo-keto reductase family 1 B10 (AKR1B10), a member of aldo-keto reductase superfamily, is overexpressed in human hepatocellular carcinoma, lung squamous cell carcinoma and lung adenocarcinoma. | NA | {
"id": 5169,
"name": "ENPP3",
"pos": [
29,
3
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
174,
19
]
} |
The random forest analysis demonstrated that only clinical covariates were important in the prediction of growth response in mild GHD (>4 to <10 μg/L on GH stimulation test), however, in severe GHD (≤4 μg/L) several SNPs contributed (in IGF2, GRB10, FOS, IGFBP3 and GHRHR). | NA | {
"id": 3486,
"name": "IGFBP3",
"pos": [
255,
6
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
125,
4
]
} |
HDAC inhibition suppresses cardiac hypertrophy and fibrosis in DOCA-salt hypertensive rats via regulation of HDAC6/HDAC8 enzyme activity. | NA | {
"id": 9734,
"name": "HDAC9",
"pos": [
0,
4
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
27,
19
]
} |
The main mediators involved in neutrophil and monocyte/macrophage recruitment and in bone loss include lipopolysaccharide-induced CXC chemokine (LIX/CXCL5), stromal-derived factor-1/CXC chemokine ligand 12 (SDF1/CXCL12) and RANKL. | NA | {
"id": 6374,
"name": "CXCL5",
"pos": [
149,
5
]
} | {
"id": "C0029453",
"name": "Osteopenia",
"pos": [
85,
9
]
} |
Because aberrant cyclooxygenase 2 (COX2) expression promotes epithelial cell proliferation, we examined the effects of COX2 on the parathyroid gland in uremia. | NA | {
"id": 5743,
"name": "PTGS2",
"pos": [
119,
4
]
} | {
"id": "C0041948",
"name": "Uremia",
"pos": [
152,
6
]
} |
We then focus on exploring genetic anticipation in Lynch syndrome and analyze new data on the age of onset in affected parent-child pairs from families seen at the University of Michigan Cancer Genetics clinic with a mutation in one of the three main mismatch repair (MMR) genes. | genomic_alterations | {
"id": 4360,
"name": "MRC1",
"pos": [
268,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
187,
6
]
} |
Association between the catechol-O-methyltransferase Val158Met polymorphism and panic disorder: a replication. | genomic_alterations | {
"id": 1312,
"name": "COMT",
"pos": [
24,
28
]
} | {
"id": "C0030319",
"name": "Panic Disorder",
"pos": [
80,
14
]
} |
The NBS1/p95 protein has a pivotal role in the sensing and repair of chromosome breaks. | NA | {
"id": 4683,
"name": "NBN",
"pos": [
4,
4
]
} | {
"id": "C0333704",
"name": "Chromosome Breaks",
"pos": [
69,
17
]
} |
Taken together, these data demonstrate that MLL1 inhibition may be a powerful and effective strategy for inducing cancerous growth arrest through the direct epigenetic regulation of proliferation-promoting genes and the avoidance of deleterious OIS- or TIS-related tumor secretomes, which can promote both drug resistance and tumor progression. | biomarker | {
"id": 4297,
"name": "KMT2A",
"pos": [
44,
4
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
326,
17
]
} |
Immunohistochemical staining revealed a significant increase in numbers of p53 and bromodeoxyuridine (BrdU) positive cells in the esophageal and urinary bladder epithelia of DBN-treated p53 (+/-) mice compared to p53 (+/+) mice administered DBN. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
213,
3
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
130,
10
]
} |
Knockdown of DLX6-AS1 suppressed OS cell proliferation, invasion, and migration, and induced cell apoptosis. | biomarker | {
"id": 285987,
"name": "DLX6-AS1",
"pos": [
13,
8
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
33,
2
]
} |
Comparisons of radiographic findings in patients with COMP and MATN3 mutations showed that albeit marked abnormalities in hip and knee joints were observed in both groups, the degree of involvement and the morphology of dysplastic epiphyses differed markedly. | NA | {
"id": 1311,
"name": "COMP",
"pos": [
54,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
105,
13
]
} |
Expression of BLT1 was confirmed in type 1 helper T cells, type 2 helper T cells, type 17 helper T cells, effector CD8(+) T cells, dendritic cells and osteoclasts in addition to granulocytes, eosinophils and macrophages, and BLT1-deficient mice showed greatly reduced phenotypes in models of various inflammatory diseases, such as peritonitis, bronchial asthma, rheumatoid arthritis, atherosclerosis and osteoporosis. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
115,
3
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
384,
15
]
} |
Our data suggest that GATA2 does not contribute to the development of angiographic CAD among sporadic cases. | NA | {
"id": 2624,
"name": "GATA2",
"pos": [
22,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
93,
8
]
} |
Meanwhile apoptosis related proteins bax and ATF2 were involved in desminopathy patients and desminopathy rat model, but not bcl-2, bcl-xl or HK2.VDAC1 and desmin are closely relevant in the tissue splices of deminopathies patients and rats with desminopathy at protein lever. | biomarker | {
"id": 7416,
"name": "VDAC1",
"pos": [
146,
5
]
} | {
"id": "C1832370",
"name": "MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",
"pos": [
246,
12
]
} |
Accumulating evidence has demonstrated that Annexin A7 serves an important role in tumorigenesis and is dysregulated in multiple types of cancer. | biomarker | {
"id": 310,
"name": "ANXA7",
"pos": [
44,
10
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
138,
6
]
} |
Screening of a phage library of tumor DNA with a probe for the beta T cell receptor gene (TCRB), which maps to chromosomal band 7q34, resulted in the isolation of a clone containing DNA spanning the translocation breakpoint of the der(1) chromosome. | genomic_alterations | {
"id": 79139,
"name": "DERL1",
"pos": [
231,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
32,
5
]
} |
Following stratified analysis, an increased risk of RA was associated with the CC genotype among male, older, C-reactive protein-positive, anti-cyclic citrullinated peptide antibody-positive, and rheumatoid factor-positive-patients, and among patients with a DAS28 of≥3.20 or an erythrocyte sedimentation rate of≥25, and in functional class I and II patients. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
110,
18
]
} | {
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
279,
30
]
} |
This could be related to a primary genomic instability affecting particularly susceptible regions like FRA3B and could be associated with an increasing risk of recurrence without involving a causative role. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
103,
5
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
35,
19
]
} |
Cox regression models were then performed to detect differences in allograft survival based upon HLA-DQ match. | NA | {
"id": 3117,
"name": "HLA-DQA1",
"pos": [
97,
6
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
4,
10
]
} |
The NRAMP1 3' untranslated region STP+86 polymorphism also appeared to be inversely associated with cervical cancer, but this result did not reach statistical significance (HET, OR = 0.57; 95% CI, 0.32-1.02). | NA | {
"id": 6294,
"name": "SAFB",
"pos": [
173,
3
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
100,
15
]
} |
Canonical Wnt signalling is down regulated by abrogated β-Catenin translocation to the nucleus whilst non-canonical Wnt/Ca(2+) pathway is activated via its key signal mediators CaMKII and PKCδ. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
56,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
66,
13
]
} |
Altogether, these results demonstrate that variation in and around the TBX4 gene and the 17q23.1q23.2 microduplication are not a frequent cause of this common orthopedic birth defect and narrows the 17q23.1q23.2 nonsyndromic clubfoot-associated region. | genomic_alterations | {
"id": 9496,
"name": "TBX4",
"pos": [
71,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
170,
12
]
} |
Among postmenopausal women, those with genotypes lacking a (CA)19 repeat allele had significantly increased breast cancer risk among subjects with a lower than median body mass index (BMI) (OR=1.77 95% CI=1.09, 2.87), while no association for IGF1 genotype was seen among women with a higher than median BMI (Pinteraction=0.04). | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
243,
4
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
167,
15
]
} |
LGMD2I due to FKRP mutations appears to be a relatively common cause of LGMD, with respiratory and cardiac failure as prominent complications. | genomic_alterations | {
"id": 79147,
"name": "FKRP",
"pos": [
14,
4
]
} | {
"id": "C0018801",
"name": "Heart failure",
"pos": [
99,
15
]
} |
Lupus nephritis patients had significantly increased plasma eotaxin, TNF-α, interleukin-17-α, interleukin-10, and interleukin-15 as compared to the systemic lupus erythematosus non-nephritis group. | biomarker | {
"id": 3600,
"name": "IL15",
"pos": [
114,
14
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
148,
28
]
} |
To investigate the genotype frequencies of cytochrome P450, family2, subfamily C, polypeptide19 (CYP2C19); P2Y12 receptor; and glycoprotein IIIa polymorphisms in patients with coronary heart disease and their impact on clopidogrel responsiveness and major adverse cardiac events (MACEs).A total of 146 coronary heart disease patients of Han ethnicity, on a clopidogrel regimen, were enrolled. | genomic_alterations | {
"id": 1557,
"name": "CYP2C19",
"pos": [
97,
7
]
} | {
"id": "C0010068",
"name": "Coronary heart disease",
"pos": [
176,
22
]
} |
These findings expand our understanding of UVA-induced skin tumorigenesis and tumor progression and suggest that targeting p62 can help prevent or treat UVA-associated skin cancer. | biomarker | {
"id": 8878,
"name": "SQSTM1",
"pos": [
123,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
78,
17
]
} |
However, the adaptor function of CBL mediated signaling pathway during tumorigenesis has not been well characterized. | NA | {
"id": 867,
"name": "CBL",
"pos": [
33,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
71,
13
]
} |
On multiple logistic regression analysis adjusted for traditional risk factors, rs10037045 BHMT, rs682985 BHMT2, rs1051319 CBS, and rs202680 FOLH1 remained independent risk factors for stroke. | NA | {
"id": 23743,
"name": "BHMT2",
"pos": [
106,
5
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
185,
6
]
} |
The relationship between altered N-glycosylation and loss of E-cadherin adhesion in cancer, however, remains unclear. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
61,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
72,
8
]
} |
Recently the RAR alpha gene has been demonstrated to be involved in a novel fusion transcript (PLZF/RAR alpha) through a t(11;17) translocation. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
17,
10
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
130,
13
]
} |
HER-2 siRNA also demonstrated dramatic suppression on cell spreading and adhesion to ECM, as well as induction of apoptosis. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
85,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
73,
8
]
} |
We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). | NA | {
"id": 51099,
"name": "ABHD5",
"pos": [
321,
5
]
} | {
"id": "C4316789",
"name": "Partial lipodystrophy",
"pos": [
284,
21
]
} |
In this cohort, the Thr377Met MYOC mutation was significantly associated with both high intraocular pressures and high vertical cup-to-disc ratios. | NA | {
"id": 4653,
"name": "MYOC",
"pos": [
30,
4
]
} | {
"id": "C0220647",
"name": "Carcinoma of unknown primary",
"pos": [
128,
3
]
} |
We investigated several parameters including neovascularization (CD31) and tumor lymphocyte infiltration (CD8, CD4), determined by immunohistochemistry, and apoptosis, determined by terminal deoxynucleotidyl transferase dUTP nick end labeling assay. | NA | {
"id": 920,
"name": "CD4",
"pos": [
111,
3
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
45,
18
]
} |
Therefore, we suggest that restoration of the miR-29b expression using the c-Myc inhibitor might be helpful in suppressing tumor aggressiveness mediated by FHIT loss and consequently improving outcomes in NSCLC patients with tumors with low expression of FHIT. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
255,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
129,
14
]
} |
The findings suggest that patients with brain tumors who are carriers of the APOE ε4 allele may have increased vulnerability to developing memory and executive dysfunction, and that additional SNPs in the APOE gene may be associated with cognitive outcome. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
77,
4
]
} | {
"id": "C2748208",
"name": "Executive dysfunction",
"pos": [
150,
21
]
} |
Increased PLC-δ1 activity enhances coronary vasomotility such as that seen in patients with coronary spastic angina. | NA | {
"id": 3339,
"name": "HSPG2",
"pos": [
10,
3
]
} | {
"id": "C0002962",
"name": "Angina Pectoris",
"pos": [
109,
6
]
} |
Neuronal tau inclusions were DJ-1 immunopositive in Pick's disease (PiD), corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and Alzheimer's disease. | NA | {
"id": 11315,
"name": "PARK7",
"pos": [
29,
4
]
} | {
"id": "C0038868",
"name": "Progressive supranuclear palsy",
"pos": [
107,
30
]
} |
Ectopic expression of DACT1 in silenced gastric cancer cell lines (AGS, BGC823 and MGC803) by stable transfection suppressed colony formation (P < 0.001), induced cell apoptosis (P < 0.01) and retarded tumorigenesis in nude mice (P < 0.001). | NA | {
"id": 51339,
"name": "DACT1",
"pos": [
22,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
202,
13
]
} |
In the present study, the effects of the naturally occurring berberine (the major constituent of Coptis chinensis) on the cell cycle, as well as on CDK1, cyclin B1, 14-3-3sigma, Wee1 and Cdc25c expressions, were investigated in the human promyelocytic leukemia HL-60 cells and in the murine myelomonocytic leukemia WEHI-3 cells. | NA | {
"id": 7465,
"name": "WEE1",
"pos": [
178,
4
]
} | {
"id": "C0027019",
"name": "Myelomonocytic leukemia",
"pos": [
291,
23
]
} |
To extend these results, atherosclerotic Apoe-/- mice sufficient or deficient in CCR7 were treated with an LXR agonist, resulting in a CCR7-dependent decrease in plaque CD68+ cells. | NA | {
"id": 1236,
"name": "CCR7",
"pos": [
135,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
162,
6
]
} |
The patients with IRS have higher values of fibrinogen, factor VII, VIII, Von Willebrand factor and Plasminogen Activator Inhibitor (PAI) compared to control subjects. | NA | {
"id": 7450,
"name": "VWF",
"pos": [
74,
21
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
44,
10
]
} |
We have previously demonstrated the tumor suppressor characteristics of protein tyrosine phosphatase receptor-type O (PTPRO) in leukemia and lung cancer, including its suppression by promoter methylation. | NA | {
"id": 5800,
"name": "PTPRO",
"pos": [
118,
5
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
141,
11
]
} |
A new histological classification by the International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society (IASLC/ATS/ERS) for lung adenocarcinoma (LAC) was proposed recently, in which a micropapillary pattern (MPP) was described. | NA | {
"id": 3938,
"name": "LCT",
"pos": [
192,
3
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
171,
19
]
} |
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