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dict |
|---|---|---|---|
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. | NA | {
"id": 668,
"name": "FOXL2",
"pos": [
0,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
24,
13
]
} |
MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.We distinguish two types of hereditary NDI: a 'pure' type with loss of water only and a complex type with loss of water and ions. | genomic_alterations | {
"id": 10916,
"name": "MAGED2",
"pos": [
0,
6
]
} | {
"id": "C0004775",
"name": "Bartter Disease",
"pos": [
110,
18
]
} |
Gene expression profiling and consecutive network and pathway analyses confirmed these findings, as various genes and pathways known previously to be implicated in ovarian tumorigenesis, including EOC tumor invasion and metastasis, were found to be downregulated upon RUNX2 suppression, while a number of pro-apoptotic genes and some EOC tumor suppressor genes were induced. | NA | {
"id": 860,
"name": "RUNX2",
"pos": [
268,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
172,
13
]
} |
A high incidence of alpha 1-antitrypsin (AAT) deficiency has been reported in patients with C-ANCA systemic vasculitis in association with antibodies against proteinase-3 (PR3). | NA | {
"id": 5265,
"name": "SERPINA1",
"pos": [
41,
3
]
} | {
"id": "C0264939",
"name": "Systemic Vasculitis",
"pos": [
99,
19
]
} |
To elucidate potential mechanism of action, we used the most effective conjugates 6, 7, 9 and 12 and found that they decreased expression and secretion of the angiogenic growth factor pleiotrophin by the cancer cells themselves, and inhibited angiogenesis in vivo and endothelial cell growth in vitro. | biomarker | {
"id": 5764,
"name": "PTN",
"pos": [
184,
12
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
204,
6
]
} |
In addition, prolonged free-choice alcohol drinking may reduce the extent of GFAP-IR processes in the PLC of P rats. | NA | {
"id": 2670,
"name": "GFAP",
"pos": [
77,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
35,
16
]
} |
A 27-year-old woman was diagnosed with AML with the PICALM-MLLT10 fusion gene. | genomic_alterations | {
"id": 8028,
"name": "MLLT10",
"pos": [
59,
6
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
39,
3
]
} |
Together, these data show for the first time that SIRT3 activity is necessary to prevent mitochondrial dysfunction and cardiac hypertrophy during aging and shed light on new pharmacological approaches to delaying aging and treating diseases in cardiac muscle and possibly other post-mitotic tissues. | NA | {
"id": 23410,
"name": "SIRT3",
"pos": [
50,
5
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
119,
19
]
} |
MTSS1 expression is reduced in human kidney cancer cells. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
0,
5
]
} | {
"id": "C0740457",
"name": "Malignant neoplasm of kidney",
"pos": [
37,
13
]
} |
The CK-gated SPF and the PCNA labeling index of an individual tumor had a good correlation (P < 0.0001), and this agreed with the result showing that DNA diploid and aneuploid tumors had equal proliferative activity (P = 0.64 and P = 0.63, respectively). | NA | {
"id": 23541,
"name": "SEC14L2",
"pos": [
13,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
166,
9
]
} |
Here, we report on the localization of translocation breakpoints in seven uterine leiomyomata from 10 to > 100 kb upstream of HMGIC by use of fluorescence in situ hybridization. | NA | {
"id": 8091,
"name": "HMGA2",
"pos": [
126,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
39,
13
]
} |
Since the discovery of TTV, numerous studies have investigated the prevalence of TTV infections in different human population groups all over the world. | NA | {
"id": 2131,
"name": "EXT1",
"pos": [
81,
3
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
85,
10
]
} |
The PCR array revealed down-regulation of the migration inhibitor CD26/DPPIV and up-regulation of angiogenic factors (vascular endothelial growth factor A, C-X-C motif Ligand 6; CXCL6) in endometriotic ESCs under hypoxia. | NA | {
"id": 1803,
"name": "DPP4",
"pos": [
71,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
213,
7
]
} |
Mutations in CYP2C9 and/or VKORC1 haplotype are associated with higher bleeding complications in patients with Budd-Chiari syndrome on warfarin. | genomic_alterations | {
"id": 1559,
"name": "CYP2C9",
"pos": [
13,
6
]
} | {
"id": "C0856761",
"name": "Budd-Chiari Syndrome",
"pos": [
111,
20
]
} |
The associations between OPRM 1 and COMT genotypes and postoperative pain, opioid use, and opioid-induced sedation. | genomic_alterations | {
"id": 4988,
"name": "OPRM1",
"pos": [
25,
6
]
} | {
"id": "C0030201",
"name": "Pain, Postoperative",
"pos": [
55,
18
]
} |
Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. | NA | {
"id": 3558,
"name": "IL2",
"pos": [
24,
4
]
} | {
"id": "C0033626",
"name": "Protein Deficiency",
"pos": [
76,
18
]
} |
The results suggest that CD14 and TLR-4 polymorphisms influence regulators of the inflammation induced by endotoxin in organic dusts. | NA | {
"id": 929,
"name": "CD14",
"pos": [
25,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
82,
12
]
} |
A significant and positive association was found between serum DS-TNFR2 concentration and insulin sensitivity (P = 0.032, n = 76). | NA | {
"id": 7133,
"name": "TNFRSF1B",
"pos": [
66,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
90,
19
]
} |
PDE4D gene polymorphisms and coronary heart disease: a case-control study in a north Indian population. | genomic_alterations | {
"id": 5144,
"name": "PDE4D",
"pos": [
0,
5
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
29,
22
]
} |
Immunoblot revealed 29-57-kDa MMP-25 in myeloma cell lysates, but not in macrophages, and partly activated MMP-25 and -26 in diseased gingival crevicular fluid and peri-implant sulcular fluid. | biomarker | {
"id": 64386,
"name": "MMP25",
"pos": [
30,
6
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
40,
7
]
} |
We therefore investigated the frequency of the C9orf72 repeat expansion in 254 Korean patients with familial (n = 8) and sporadic (n = 246) ALS and found that none of the patients had the expansion. | NA | {
"id": 203228,
"name": "C9orf72",
"pos": [
47,
7
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
121,
8
]
} |
Repression of Bright/ARID3a blocked differentiation and conferred a survival advantage to Ba/F3 cells under interleukin-3 starvation. | NA | {
"id": 1820,
"name": "ARID3A",
"pos": [
21,
6
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
122,
10
]
} |
Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities. | NA | {
"id": 5277,
"name": "PIGA",
"pos": [
60,
9
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
188,
4
]
} |
Paternal and neonatal carriage of the KDR-604T/C polymorphism is associated with the risk of preeclampsia and SGA infants. | NA | {
"id": 3791,
"name": "KDR",
"pos": [
38,
3
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
93,
12
]
} |
HSP90 protects the human T-cell leukemia virus type 1 (HTLV-1) tax oncoprotein from proteasomal degradation to support NF-κB activation and HTLV-1 replication. | biomarker | {
"id": 3320,
"name": "HSP90AA1",
"pos": [
0,
5
]
} | {
"id": "C0023493",
"name": "Adult T-Cell Lymphoma/Leukemia",
"pos": [
19,
21
]
} |
This review covers a brief introduction and summary on various NGS technologies, applications and important findings by NGS in lung cancer advances, including further discoveries in previously known target genes (EGFR, ALK and KRAS), the identification of additional lung cancer mutations and the global coordination of cancer genome studies. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
227,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
320,
6
]
} |
Apelin treatment did not affect glycemia, body weight, or blood pressure in diabetic mice. | NA | {
"id": 8862,
"name": "APLN",
"pos": [
0,
6
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
42,
11
]
} |
Annexin profiling suggested that cell death could be due to necrosis as observed by upregulation of necrotic markers such as LDH A, Rip-1, and Cyclophilin A. Necrosis appears to be a better therapeutic response as it could further activate pro-inflammatory cytokines to attract immune cells to eliminate HPV-integrated cells and therefore TALEN editing strategy has the potential to be a promising tool as an adjuvant therapy in cervical cancer along with surgery. | biomarker | {
"id": 5478,
"name": "PPIA",
"pos": [
143,
13
]
} | {
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
429,
15
]
} |
In vivo, p53-deficient mice had enhanced proliferative responses to both xenobiotic hepatomitogen and CCl4-induced liver necrosis, although lack of persistent proliferation showed that other control mechanisms are important. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
9,
3
]
} | {
"id": "C0151798",
"name": "Hepatic necrosis",
"pos": [
115,
14
]
} |
As hyperlysinemia is generally considered a benign metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PTPRZ1. | NA | {
"id": 5803,
"name": "PTPRZ1",
"pos": [
209,
6
]
} | {
"id": "C0268553",
"name": "Hyperlysinemias",
"pos": [
3,
14
]
} |
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
15,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
97,
4
]
} |
Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease. | genomic_alterations | {
"id": 7534,
"name": "YWHAZ",
"pos": [
54,
16
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
83,
19
]
} |
We aim to check if serum levels of receptor for advanced glycation endproduct (RAGE) ligands S100B, S100A6 and S100P were related to myocardial injury in acute coronary syndrome (ACS). | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
100,
6
]
} | {
"id": "C0948089",
"name": "Acute Coronary Syndrome",
"pos": [
154,
23
]
} |
ING4 suppresses tumor angiogenesis and functions as a prognostic marker in human colorectal cancer. | therapeutic | {
"id": 51147,
"name": "ING4",
"pos": [
0,
4
]
} | {
"id": "C0024232",
"name": "Lymphatic Metastasis",
"pos": [
16,
18
]
} |
Clinically SLV gastroenteritis was characterized by a mild diarrheal disease, being sharply different from the Norwalk-like virus-associated "winter vomiting disease." | NA | {
"id": 55974,
"name": "SLC50A1",
"pos": [
11,
3
]
} | {
"id": "C0017160",
"name": "Gastroenteritis",
"pos": [
15,
15
]
} |
No disease causing mutations in the GABBR1 gene were detected in patients with sporadic or familial TLE. | NA | {
"id": 2550,
"name": "GABBR1",
"pos": [
36,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
79,
8
]
} |
We report for the first time a correlation between a gene mutation--BRAF V600E--and cisplatin resistance in nonseminomatous GCTs. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
68,
4
]
} | {
"id": "C0220620",
"name": "Gastrointestinal Carcinoid Tumor",
"pos": [
124,
3
]
} |
Interleukin 8 is induced by cholesterol loading of macrophages and expressed by macrophage foam cells in human atheroma. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
0,
13
]
} | {
"id": "C0264956",
"name": "Atheroma",
"pos": [
111,
8
]
} |
These results suggest that CHRM2 variants are potentially relevant for adolescent substance use and that temperamental risk factors could contribute to these associations. | genomic_alterations | {
"id": 1129,
"name": "CHRM2",
"pos": [
27,
5
]
} | {
"id": "C0237123",
"name": "Alcohol or Other Drugs use",
"pos": [
82,
13
]
} |
Here, we show that a functional interaction of PAR2 and TRPA1 in dorsal root ganglion (DRG) neurons could contribute to the sensation of inflammatory pain. | biomarker | {
"id": 2150,
"name": "F2RL1",
"pos": [
47,
4
]
} | {
"id": "C0234251",
"name": "Inflammatory pain",
"pos": [
137,
17
]
} |
In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas. | NA | {
"id": 5644,
"name": "PRSS1",
"pos": [
12,
5
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
85,
7
]
} |
Twenty-one families were included based on a history of focal seizures with auditory and/or receptive aphasic symptoms in two or more individuals, absence of brain abnormalities, and negative LGI1 test. | NA | {
"id": 9211,
"name": "LGI1",
"pos": [
192,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
164,
13
]
} |
Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism. | therapeutic | {
"id": 5071,
"name": "PRKN",
"pos": [
93,
6
]
} | {
"id": "C0752098",
"name": "Autosomal Dominant Parkinsonism",
"pos": [
176,
41
]
} |
One hundred and four DNA samples from mothers with preeclampsia, mothers with a normal history of pregnancies and their neonates were tested by polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) for HLA-A, -G, -DRB1, -DQA1, -DQB1 alleles. | NA | {
"id": 129831,
"name": "RBM45",
"pos": [
238,
4
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
51,
12
]
} |
The phenotype associated with the g.13185_13186insAG ENAM mutation is dose dependent such that ARAI with openbite malocclusion segregates as a recessive trait, and enamel pitting as a dominant trait. | NA | {
"id": 10117,
"name": "ENAM",
"pos": [
53,
4
]
} | {
"id": "C0266061",
"name": "Open Bite",
"pos": [
105,
8
]
} |
In total, 28 loci, that is, 14q32.33 (AKT1), 5q22.2 (APC), 11q22.3 (ATM), 2q33.1 (CASP8), 11q13.3 (CCND1), 16q22.1 (CDH1), 9p21.3 (CDKN2A), 1q31.1 (COX-2), 7p11.2 (EGFR), 22q13.2 (EP300), 4q35.2 (FAT1), 4q31.3 (FBXW7), 4p16.3 (FGFR3), 1p13.3 (GSTM1-GSTT1), 11q13.2 (GSTP1), 11p15.5 (H-RAS), 3p25.3 (hOGG1), 1q32.1 (IL-10), 4q13.3 (IL-8), 12p12.1 (KRAS), 12q15 (MDM2), 12q13.12 (MLL2), 9q34.3 (NOTCH1), 17p13.1 (p53), 3q26.32 (PIK3CA), 10q23.31 (PTEN), 13q14.2 (RB1), and 5q14.2 (XRCC4), were validated to be associated with oral cancer. | genomic_alterations | {
"id": 2033,
"name": "EP300",
"pos": [
180,
5
]
} | {
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
524,
11
]
} |
In conclusion, we demonstrate that type I IFN can prevent joint inflammation by downregulating antigen-specific cellular immunity. | biomarker | {
"id": 3439,
"name": "IFNA1",
"pos": [
42,
3
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
58,
18
]
} |
Reduced pain in the average population has been associated with frequent variants in the micro-opioid receptor gene (OPRM1), catechol-O-methyltransferase gene (COMT), guanosine triphosphate cyclohydrolase 1/dopa-responsive dystonia gene (GCH1), transient receptor potential cation channel, subfamily V, member 1 gene (TRPV1) or the melanocortin-1 receptor gene (MC1R). | NA | {
"id": 7442,
"name": "TRPV1",
"pos": [
318,
5
]
} | {
"id": "C1851920",
"name": "Dopa-Responsive Dystonia",
"pos": [
207,
24
]
} |
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling. | genomic_alterations | {
"id": 9681,
"name": "DEPDC5",
"pos": [
30,
6
]
} | {
"id": "C0424295",
"name": "Hyperactive behavior",
"pos": [
88,
13
]
} |
No differences between controls and victims for the Tph1 genetic variation, either at single loci, or at a haplotypic level, were demonstrated, albeit there was a tendency, not reaching statistical significance, towards an increase of the intron 7CC genotype in the suicide group. | NA | {
"id": 7166,
"name": "TPH1",
"pos": [
52,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
266,
7
]
} |
Silencing of vanilloid receptor TRPV1 by RNAi reduces neuropathic and visceral pain in vivo. | therapeutic | {
"id": 7442,
"name": "TRPV1",
"pos": [
13,
20
]
} | {
"id": "C0751407",
"name": "Pain, Migratory",
"pos": [
70,
13
]
} |
CSPG4 Shows Promise for Glioblastoma CAR T Therapy. | genomic_alterations | {
"id": 9970,
"name": "NR1I3",
"pos": [
37,
3
]
} | {
"id": "C0278878",
"name": "Adult Glioblastoma",
"pos": [
24,
12
]
} |
Polymorphisms of the haptoglobin (HP) gene and deletions in alpha-globin gene (alpha-thalassaemia) are common in malaria-endemic Africa. | genomic_alterations | {
"id": 3039,
"name": "HBA1",
"pos": [
60,
12
]
} | {
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
79,
18
]
} |
Northern blot analysis of 70 sporadic meningiomas showed specific loss of expression in 8 tumors, suggesting inactivation of BAM22. | NA | {
"id": 162,
"name": "AP1B1",
"pos": [
125,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
29,
8
]
} |
Among 84 consecutive patients with chronic phase Ph-positive chronic myeloid leukemia (CML) who were investigated for the hybrid BCR/ABL mRNA, in six cases (7%) the disease mimicked essential thrombocythemia (ET) at presentation, because of marked thrombocytosis (platelet counts ranging from 1003 x 10(9)/l to 2800 x 10(9)/l) and moderate leukocytosis (WBC counts from 10 x 10(9)/l to 19 x 10(9)/l). | genomic_alterations | {
"id": 25,
"name": "ABL1",
"pos": [
129,
7
]
} | {
"id": "C0023518",
"name": "Leukocytosis",
"pos": [
340,
12
]
} |
We hypothesize that inhibition of the enzyme secretory phospholipase A2 (sPLA2), which contributes to the growth potential of normal esophageal mucosa and esophageal cancer cells, may attenuate ICAM-1 production and nuclear factor-kappa beta activation in human esophageal adenocarcinoma cells. | NA | {
"id": 8399,
"name": "PLA2G10",
"pos": [
73,
5
]
} | {
"id": "C0279628",
"name": "Adenocarcinoma Of Esophagus",
"pos": [
262,
25
]
} |
TOR conservation from flies to humans indicates that probiotic therapy with L. fermentum NCIMB 5221 has a high therapeutic potential towards several human energy regulatory diseases such as obesity, diabetes and cancer. | biomarker | {
"id": 6097,
"name": "RORC",
"pos": [
0,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
212,
6
]
} |
We investigated the LT pathway in human T-lymphotropic virus type 1 (HTLV-1) infection by evaluating LT levels in HTLV-1-infected patients classified according to the clinical status as asymptomatic carriers (HACs) and HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
282,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
186,
12
]
} |
E-cadherin loss (mRNA and protein) generally correlated with identification of a second hit. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
0,
10
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
88,
3
]
} |
This finding also confirms the importance of impairment of the MYC/MAX/MXD1 axis in the development of aggressive neural tumors, because MYCN overexpression is an established genetic hallmark of malign neuroblastoma, and it is likely that MXI1 plays a relevant role in the development of medulloblastoma and glioblastoma. | biomarker | {
"id": 4084,
"name": "MXD1",
"pos": [
71,
4
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
308,
12
]
} |
Lower expression levels of LAMA2 correlate with a proliferative signature, and predict poor survival and higher chance of cancer recurrence in HCC patients, suggesting an important role of the extracellular matrix and cell adhesion in tumor progression of a subgroup of HCC patients. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
270,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
235,
17
]
} |
The level of VEGF mRNA was assessed by semi-quantitative reverse transcription-polymerase chain reaction (RT-PCR) using beta-actin as an internal control in 66 patients with stages Ia-IVb invasive cervical cancer. | biomarker | {
"id": 728378,
"name": "POTEF",
"pos": [
120,
10
]
} | {
"id": "C1334177",
"name": "Infiltrating Cervical Carcinoma",
"pos": [
188,
24
]
} |
We evaluated the relationship between DF and LNP with colorectal, breast, prostate, ovarian, lung, and stomach cancer and inflammatory bowel diseases (IBD; Crohn's disease and ulcerative colitis). | NA | {
"id": 80856,
"name": "LNPK",
"pos": [
45,
3
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
103,
14
]
} |
Our experiments showed that Sema3C not only affects angiogenesis of CAM by inhibiting neovascularization but also acts as an anti-tumorigenic molecule by hampering U87 MG cell invasion into mesenchyme. | biomarker | {
"id": 10512,
"name": "SEMA3C",
"pos": [
28,
6
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
176,
8
]
} |
We studied the expression of p53, p16, RB, H-RAS and human telomerase reverse transcriptase (hTERT) in MSCs from bone marrow of children diagnosed with idiopathic thrombocytopenic purpura (ITP) and autoimmune neutropenia. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
29,
3
]
} | {
"id": "C0340971",
"name": "Autoimmune neutropenia",
"pos": [
198,
22
]
} |
Wortmannin inhibited NF-kappaB binding and transcriptional activity without inhibiting NF-kappaB translocation to the nucleus, indicating that PI3K/Akt signaling activates NF-kappaB transcriptional activity directly. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
172,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
97,
13
]
} |
The t(14;18) translocation was investigated by fluorescence in-situ hybridization (FISH) analysis. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
83,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
13,
13
]
} |
In addition, BaF3 cells with the stable expression of NOK induced rapid tumorigenesis in nude mice. | NA | {
"id": 55359,
"name": "STYK1",
"pos": [
54,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
72,
13
]
} |
One patient discontinued TDF at 10 days due to rash. | NA | {
"id": 6736,
"name": "SRY",
"pos": [
25,
3
]
} | {
"id": "C0015230",
"name": "Exanthema",
"pos": [
47,
4
]
} |
Cinobufagin induces autophagy-mediated cell death in human osteosarcoma U2OS cells through the ROS/JNK/p38 signaling pathway. | biomarker | {
"id": 5599,
"name": "MAPK8",
"pos": [
99,
3
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
59,
12
]
} |
As the cervix is in constant contact with bacteria, especially Gram-negative bacteria, we hypothesize that TLR4-mediated bacterial stimulation may be involved in the tumorigenesis of cervical cancer. | NA | {
"id": 7099,
"name": "TLR4",
"pos": [
107,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
166,
13
]
} |
Two cancer susceptibility genes, BRCA1 on chromosome 17q12-21 and BRCA2 on chromosome 13q12-13, are thought to be responsible for approximately 80% of families containing multiple cases of early-onset female breast cancer. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
33,
5
]
} | {
"id": "C0007104",
"name": "Female Breast Carcinoma",
"pos": [
201,
20
]
} |
Substitution of Ala for Thr residue in 155th position in γ-tropomyosin (Tpm3.12) is associated with muscle weakness. | genomic_alterations | {
"id": 7170,
"name": "TPM3",
"pos": [
57,
13
]
} | {
"id": "C0151786",
"name": "Muscle Weakness",
"pos": [
100,
15
]
} |
This study shows that: a) tetranectin is produced and deposited extracellularly in the desmoplastic peritumoral stroma of infiltrating gastric adenocarcinomas; b) tetranectin is more highly expressed by the mucinous signet ring cell carcinomas compared to ITA; and c) the amount of tetranectin produced by the ITA is unrelated with the degree of tumor differentiation. | NA | {
"id": 7123,
"name": "CLEC3B",
"pos": [
282,
11
]
} | {
"id": "C1511789",
"name": "Desmoplastic",
"pos": [
87,
12
]
} |
BACKGROUND: HER2 and TOP2A gene status are assessed for diagnostic and research purposes in breast cancer with fluorescence in situ hybridization (FISH). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
147,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
92,
13
]
} |
Various hepatocellular carcinoma (HCC) cell lines (Huh-7, Hep3B, and HepG2) were transfected with small interfering RNA (siRNA) against HIF-1β (siHIF-1β) and cultured under hypoxic conditions (1% O2 for 24 h). | NA | {
"id": 405,
"name": "ARNT",
"pos": [
136,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
173,
7
]
} |
We assessed clinical history, CBG mutation analysis, plasma CBG, salivary cortisol, body mass index, waist circumference, blood pressure, and the Krupp fatigue scale. | NA | {
"id": 866,
"name": "SERPINA6",
"pos": [
60,
3
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
101,
19
]
} |
The IL-6C and APOE epsilon4 alleles were independently associated with a mild or moderate increased risk of MI, whilst the allele C of the IL-1beta was not independently linked to MI risk. | NA | {
"id": 348,
"name": "APOE",
"pos": [
14,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
73,
4
]
} |
The chromosomal translocation that segregates with the disease results in a truncated protein that impairs neurite outgrowth and proper development of the cerebral cortex, suggesting that lost DISC1 function may underlie neurodevelopmental dysfunction in schizophrenia. | NA | {
"id": 27185,
"name": "DISC1",
"pos": [
193,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
25
]
} |
In the present study, we investigated the role of insulin-like growth factor-I (IGF-I) in the regulation of ZEB1 during EMT associated with prostate tumor cell migration. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
120,
3
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
140,
14
]
} |
This study was performed to determine the range of phenotype caused by NOG mutations, using Japanese patients with various phenotypes including sporadic inherited SYM1, dominantly inherited SYM1, stapes ankylosis with broad thumb and toes (Teunissen and Cremer syndrome). | NA | {
"id": 4358,
"name": "MPV17",
"pos": [
190,
4
]
} | {
"id": "C1866656",
"name": "STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)",
"pos": [
196,
42
]
} |
We specifically hypothesized that RANTES is required for lung cancer invasion and progression in TGFbetaRII-repressed cells. | biomarker | {
"id": 6352,
"name": "CCL5",
"pos": [
34,
6
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
57,
11
]
} |
Modification effects of GSTM1, GSTT1 and CYP2E1 polymorphisms on associations between raw salted food and incomplete intestinal metaplasia in a high-risk area of stomach cancer. | genomic_alterations | {
"id": 2944,
"name": "GSTM1",
"pos": [
24,
5
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
162,
14
]
} |
The expression of TWEAK (TNFSF12) and TweakR/Fn14 was detected in regions rich in macrophage/foam cells in atherosclerotic plaques. | NA | {
"id": 51330,
"name": "TNFRSF12A",
"pos": [
45,
4
]
} | {
"id": "C4281786",
"name": "Presence of foam cells",
"pos": [
93,
10
]
} |
In patients with multiple sclerosis (n = 9; mean +/- SD = 5 +/- 4.3; range: 0-12.7 ng ml-1) or HIV infection with neurological symptoms (n = 18; mean +/- SD = 4.9 +/- 3.2; range; 1-11.9 ng ml-1) low levels of sICAM-1 were detected in the CSF associated with intact blood-CSF barrier function in most patients. | NA | {
"id": 51761,
"name": "ATP8A2",
"pos": [
189,
4
]
} | {
"id": "C0235031",
"name": "Neurologic Symptoms",
"pos": [
114,
21
]
} |
Drug-Coated Balloon Treatment for Femoropopliteal Artery Disease: The IN.PACT Global Study De Novo In-Stent Restenosis Imaging Cohort. | genomic_alterations | {
"id": 8575,
"name": "PRKRA",
"pos": [
73,
4
]
} | {
"id": "C0852949",
"name": "Arteriopathic disease",
"pos": [
50,
14
]
} |
Fragile sites were analyzed in normal peripheral lymphocytes from two acute nonlymphocytic leukemia patients with t(7;11)(p15-p13;p15) leukemic cells. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
126,
3
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
70,
29
]
} |
Genotyping was performed in 107 D/R DNA pairs for gene polymorphisms of cytokines (tumor necrosis factor-alpha [TNF-alpha] and TNF-beta, interleukin-1 receptor antagonist [IL-1Ra], IL-6, and IL-10), adhesion molecules (CD31 and CD54), Fcgammareceptors (FcgammaRIIa, IIIa, IIIb), mannose-binding lectin (MBL), and myeloperoxidase (MPO). | NA | {
"id": 3569,
"name": "IL6",
"pos": [
181,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
199,
8
]
} |
RBP4 is an adipocyte-secreted molecule that is elevated in the serum before the development of frank diabetes and appears to identify insulin resistance and associated cardiovascular risk factors in subjects with varied clinical presentations. | NA | {
"id": 5433,
"name": "POLR2D",
"pos": [
0,
4
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
101,
8
]
} |
The results suggest that GCT contains all signals including OPG, ODF, M-CSF and RANK that are essential for inducing osteoclastogenesis and promoting bone resorption. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
60,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
150,
15
]
} |
LAMR1 is down-regulated in CD4+ T cells of SRA compared to non-asthmatic individuals, irrespective of their atopic status. | NA | {
"id": 920,
"name": "CD4",
"pos": [
27,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
108,
6
]
} |
Our findings indicate the existence of alpha-smooth muscle actin-positive endothelial cells in adult aortic endothelium and the possible association with progression of atherosclerosis. | NA | {
"id": 70,
"name": "ACTC1",
"pos": [
45,
19
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
169,
15
]
} |
Tumor necrosis factor-alpha, transforming growth factor-β1, and interleukin-10 gene polymorphisms: implication in protection or susceptibility to dengue hemorrhagic fever. | genomic_alterations | {
"id": 7040,
"name": "TGFB1",
"pos": [
29,
29
]
} | {
"id": "C0019100",
"name": "Severe Dengue",
"pos": [
146,
24
]
} |
The concentrations of fibrinogen (Fb) and the activities of factor VII (F VIIC) and antithrombin III (AT III) both in men less than 55 years old with a history of myocardial infarction (MI) and with normolipemia (MI-NLP) or hyperlipoproteinemia (MI-HLP) and in their sons have been measured. | NA | {
"id": 22981,
"name": "NINL",
"pos": [
216,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
22,
10
]
} |
Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro. | NA | {
"id": 10225,
"name": "CD96",
"pos": [
19,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
45,
8
]
} |
Overall, DNA abnormalities were found in 13% of cases with SIM without dysplasia, 60% with LGD, 73% with HGD, and 100% with adenocarcinoma. | NA | {
"id": 6493,
"name": "SIM2",
"pos": [
59,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
13,
13
]
} |
Functional genetic polymorphisms of proinflammatory (T-helper-1: IL-2, IL-12 and IFN-gamma), anti-inflammatory (T-helper-2: IL-4, IL-6 and IL-10) and metabolic (IGF-I, VDR and INS) genes were determined in 206 Dutch simplex families with juvenile onset T1D and the results were analysed using the transmission disequilibrium test. | genomic_alterations | {
"id": 3586,
"name": "IL10",
"pos": [
139,
5
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
253,
3
]
} |
We hypothesized that a substantial proportion of patients with adult-onset MMD were misclassified as having ICAS, which may in part explain the high prevalence of intracranial atherosclerotic stroke in Asians. | NA | {
"id": 23531,
"name": "MMD",
"pos": [
75,
3
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
192,
6
]
} |
It was shown that emerin dissociates from chromatin depending on mitotic phosphorylation of the former, and this plays a critical role in the dissociation of emerin from barrier-to-autointegration factor (BAF). | NA | {
"id": 8815,
"name": "BANF1",
"pos": [
205,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
142,
12
]
} |
The apolipoprotein E (apoE) polymorphism was evaluated alone, and in interaction with smoking status, in predicting carotid intima-medial thickness and plaque among 182 untreated, hypertensive, white men (mean age 56+/-8.9 years). | NA | {
"id": 348,
"name": "APOE",
"pos": [
4,
16
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
152,
6
]
} |
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