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|---|---|---|---|
The steady-state ratio fibronectin/type I procollagen mRNAs was 0.12 +/- 0.01 in striae distensae and 0.18 +/- 0.01 in the control. | NA | {
"id": 1278,
"name": "COL1A2",
"pos": [
35,
18
]
} | {
"id": "C0152459",
"name": "Linear atrophy",
"pos": [
81,
16
]
} |
The difference in ECM glycoprotein content in interstitial lung diseases could contribute to the development of lung fibrosis. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
18,
3
]
} | {
"id": "C0206062",
"name": "Lung Diseases, Interstitial",
"pos": [
46,
26
]
} |
SD rat fed with a HF diet showed different susceptibility to obesity, and up-regulated hypothalamic NPY and Y1, Y2, Y5 receptor gene expressions were closely associated with being predisposed to obesity and overeating of DIO rats. | NA | {
"id": 4852,
"name": "NPY",
"pos": [
100,
3
]
} | {
"id": "C0020505",
"name": "Hyperphagia",
"pos": [
207,
10
]
} |
The percentage of nuclear HIF-1α expression was higher in the BRCA1-2 carriers than in BRCAX cancers (p<0.05), and in all familial than in sporadic tumor tissues (p = 0.0045). | NA | {
"id": 60500,
"name": "BRCA3",
"pos": [
87,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
139,
8
]
} |
Down-regulation of miR-125a-5p, miR-126-3p, miR-221-3p, and miR-222-3p may be a manifestation of atherosclerosis either in SCH+ATH or in ATH-alone patients. | NA | {
"id": 4771,
"name": "NF2",
"pos": [
123,
3
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
97,
15
]
} |
Heparin-binding epidermal growth factor-like growth factor (HB-EGF) is a promising target for ovarian cancer therapy. | biomarker | {
"id": 1839,
"name": "HBEGF",
"pos": [
0,
39
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
94,
14
]
} |
We report on the aberrant expression of a novel T-cell coregulatory molecule, B7 homolog 1 (B7-H1), in vestibular schwannomas and discuss the implications of B7-H1 expression and tumor aggressiveness and a potential regulator of B7-H1 expression. | NA | {
"id": 29126,
"name": "CD274",
"pos": [
229,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
185,
14
]
} |
We investigated the association between endometriosis and polymorphisms in the N-acetyltransferase 1 (NAT1) and N-acetyltransferase 2 (NAT2) genes in a Japanese population, having previously demonstrated a positive association with NAT2 polymorphisms in a UK population. | NA | {
"id": 9,
"name": "NAT1",
"pos": [
102,
4
]
} | {
"id": "C0014175",
"name": "Endometriosis",
"pos": [
40,
13
]
} |
Costello syndrome (CS; MIM 218040) is characterized by short stature, facial dysmorphism, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
23,
3
]
} | {
"id": "C0206656",
"name": "Embryonal Rhabdomyosarcoma",
"pos": [
128,
26
]
} |
METHODS: The expression of SNCG, MAP2, SDF-1 and CXCR4 was detected by SP immunohistochemical method in 225 cases of gastric adenocarcinoma and 105 cases of nonneoplastic adjacent gastric tissue. | NA | {
"id": 4133,
"name": "MAP2",
"pos": [
33,
4
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
117,
22
]
} |
Carbonic anhydrase III promotes transformation and invasion capability in hepatoma cells through FAK signaling pathway. | NA | {
"id": 761,
"name": "CA3",
"pos": [
0,
22
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
74,
8
]
} |
Our research shows that t(11;14) translocation is a special and useful diagnostic marker for MCL, and detection of the marker by nuclei micro-array FISH is convenient and economic, especially more sensitive and specific than other methods for the diagnosis of MCL. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
148,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
33,
13
]
} |
Blocking this system with angiotensin converting enzyme (ACE) inhibitors in patients with HF and left ventricular dysfunction reduces mortality and morbidity and these drugs are currently recommended as standard therapy. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
57,
3
]
} | {
"id": "C0242973",
"name": "Ventricular Dysfunction",
"pos": [
102,
23
]
} |
Survivin, HIAP-1, and HIAP-2 were distinctly upregulated in NPC, suggesting they may play significant roles in NPC tumorigenesis and serve as tumor markers with prognostic and therapeutic implications. | NA | {
"id": 330,
"name": "BIRC3",
"pos": [
10,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
115,
13
]
} |
Interestingly, Cd could activate both ERK and JNK signaling pathways in C6 cells; however, γ-secretase-mediated N-cad/CTF2 production by Cd was completely blocked by MEK1/2 inhibitors PD184352 and U0126, but not by a JNK inhibitor SP600125, demonstrating that the ERK signaling pathway plays a major role in the cleavage. | NA | {
"id": 5604,
"name": "MAP2K1",
"pos": [
166,
4
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
114,
3
]
} |
Gender-specific association of TSNAX/DISC1 locus for schizophrenia and bipolar affective disorder in South Indian population. | genomic_alterations | {
"id": 100303453,
"name": "TSNAX-DISC1",
"pos": [
31,
11
]
} | {
"id": "C2700438",
"name": "MAJOR AFFECTIVE DISORDER 7",
"pos": [
71,
26
]
} |
Our findings suggest that the K303R ERalpha mutation might be a new predictive marker of response to AIs in mutation-positive breast tumors, and that targeting the PI3K/Akt pathway may be a useful strategy for treating patients with tumors resistant to hormone therapy. | genomic_alterations | {
"id": 5294,
"name": "PIK3CG",
"pos": [
164,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
233,
6
]
} |
For FANCA, hypomethylation was observed in 11/13 cell lines (p<0.0003) and all 64 primary larynx samples (p<0.001) compared to buccal swabs. | NA | {
"id": 2175,
"name": "FANCA",
"pos": [
4,
5
]
} | {
"id": "C0023051",
"name": "Laryngeal Diseases",
"pos": [
90,
6
]
} |
A total of 11 tSNPs within DHFR, MTHFR, RFC1, and TYMS were associated with HNC risk (all p-uncorrected <0.050). | genomic_alterations | {
"id": 5981,
"name": "RFC1",
"pos": [
40,
4
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
76,
3
]
} |
In a boy with myopathy and an increase of muscle fibres with central nuclei we detected a heterozygous 387G-->T nucleotide transversion in the MYF6 gene (MIM*159991). | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
154,
3
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
14,
8
]
} |
Modulation of p75 neurotrophin receptor under hypoxic conditions induces migration and invasion of C6 glioma cells. | biomarker | {
"id": 1523,
"name": "CUX1",
"pos": [
14,
3
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
87,
8
]
} |
Overexpression of constitutively active p110 phosphoinositol-3-kinase subunit was sufficient to restore invasion and tumorigenesis in transformed cells lacking laminin-332/collagen VII interaction in a manner independent of cellular adhesion. | biomarker | {
"id": 1523,
"name": "CUX1",
"pos": [
40,
4
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
104,
8
]
} |
The aim of the present study was to examine the role of protease-activated receptor-1 (PAR1)-stimulated platelet activation in the epithelial-mesenchymal transition (EMT) and migration of colon cancer cells, and to identify the underlying mechanisms. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
166,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
188,
12
]
} |
The TGFB1 Ex5-73C>T variant was positively associated with TGCT (CT/TT versus CC: odds ratio, 1.73; 95% confidence interval, 1.01-2.95; P(trend) = 0.05); additionally, haplotypes of the assessed TGFB1 SNPs (-509C>T, 327C>T, Ex1-282C>G, and Ex5-73C>T) differed in frequency between cases and controls (all TGCT, P 0.07; seminoma, P 0.04; nonseminoma, P 0.11). | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
195,
5
]
} | {
"id": "C0036631",
"name": "Seminoma",
"pos": [
319,
8
]
} |
Lack of association between Gly460Trp polymorphism of alpha-adducin gene and salt sensitivity of blood pressure in Polish hypertensives. | NA | {
"id": 118,
"name": "ADD1",
"pos": [
54,
13
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
97,
14
]
} |
Among acute myeloblastic leukemia patients, frequency peaks were found for those with MLL/11q23 rearrangements (peak: first year), Down syndrome (peak: second to third year), or cytogenetic abnormalities other than translocations t(8;21), t(15;17), and inv(16)/t(16;16) (peak: first to third year). | genomic_alterations | {
"id": 4297,
"name": "KMT2A",
"pos": [
86,
3
]
} | {
"id": "C0008626",
"name": "Congenital chromosomal disease",
"pos": [
178,
25
]
} |
Here, we hypothesized that hypoxia transcriptionally up-regulates CD39 expression. | NA | {
"id": 953,
"name": "ENTPD1",
"pos": [
66,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
27,
7
]
} |
Time lapse microscopy and Transwell migration data show that the absence of both Nischarin and LKB1 from an invasive breast cancer cell line (MDA-MB-231) enhances migration as measured by increased distance and speed of migrating cells. | NA | {
"id": 6794,
"name": "STK11",
"pos": [
95,
4
]
} | {
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
108,
22
]
} |
Myxoid liposarcomas (MLSs) are characterized by t(12;16)(q13;p11) translocation and expression of TLS-CHOP chimeric oncoprotein. | genomic_alterations | {
"id": 2521,
"name": "FUS",
"pos": [
98,
3
]
} | {
"id": "C0206634",
"name": "Liposarcoma, Myxoid",
"pos": [
0,
19
]
} |
Yeast two-hybrid cloning identified metastasis-associated GPI-anchored C4.4a protein and extracellular alpha-dystroglycan (DAG-1) as binding partners for both hAG-2 and hAG-3, which if replicated in clinical oncology would demonstrate a potential role in tumour metastasis through the regulation of receptor adhesion and functioning. | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
58,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
36,
10
]
} |
BCT and TNF-alpha can reverse HCC MDR in nude mouse MDR1 model of liver neoplasm. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
30,
3
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
66,
14
]
} |
These data indicate that mutations of PIK3CA play an oncogenic role in substantial fractions of ovarian and breast carcinomas, and in consideration of mutation of other components of the PI3K-AKT pathway in both tumor types, confirm the major oncogenic role of this pathway in ovarian and breast carcinomas. | genomic_alterations | {
"id": 5293,
"name": "PIK3CD",
"pos": [
187,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
289,
17
]
} |
As HCMV proteins were mainly confined to neoplastic cells in primary breast cancer and SLN samples, our observations raise the question whether HCMV contributes to the tumorigenesis of breast cancer and its metastases. | NA | {
"id": 6588,
"name": "SLN",
"pos": [
87,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
168,
13
]
} |
To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism. | genomic_alterations | {
"id": 6323,
"name": "SCN1A",
"pos": [
43,
5
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
107,
9
]
} |
The genes selected for methylation analysis covered a wide range cellular processes including cell cycle control (p16), apoptosis (DAPK and RASSF1A), Wnt signaling (APC, WIF1 and RUNX3), cell-cell adhesion (E-cad), and DNA repair (MGMT and hMLH1). | NA | {
"id": 4255,
"name": "MGMT",
"pos": [
231,
4
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
209,
3
]
} |
DNA from patients with familial MM, from MM cell lines and sporadic MM cases has been examined for coding region and splice junction mutations of the p16 gene, but expression studies of both genes from the same cells have not been reported. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
150,
8
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
59,
8
]
} |
Fragile genes as biomarkers: epigenetic control of WWOX and FHIT in lung, breast and bladder cancer. | biomarker | {
"id": 51741,
"name": "WWOX",
"pos": [
51,
4
]
} | {
"id": "C0005684",
"name": "Malignant neoplasm of urinary bladder",
"pos": [
85,
14
]
} |
In conclusion, miRNA‑224 was downregulated in MCNs and may regulate tumorigenesis by targeting Jag1. | NA | {
"id": 182,
"name": "JAG1",
"pos": [
95,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
68,
13
]
} |
We hypothesized that disruption of apelin signaling would lead to worsening of the vascular remodeling associated with pulmonary hypertension (PH). | NA | {
"id": 8862,
"name": "APLN",
"pos": [
35,
6
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
83,
19
]
} |
NEU1 mutations were detected in 3 siblings of each family with prominent cortical myoclonus presenting in the third decade of life and having a mild and slowly progressive course. | NA | {
"id": 4758,
"name": "NEU1",
"pos": [
0,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
144,
4
]
} |
In addition, down-regulated expression of hCLP46 inhibited the proliferation of U937 cells, which was correlated with increased cyclin-dependent kinase inhibitor (CDKI) CDKN1B (p27) and decreased phosphorylation of retinoblastoma (RB) protein. | NA | {
"id": 56983,
"name": "POGLUT1",
"pos": [
42,
6
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
215,
14
]
} |
Patients suffering from Kindler syndrome have a homologous mutation of the kindlin-1 gene and develop skin blisters, periodontal disease, and intestinal complications because of deficient adhesion of the basal epithelial cells. | NA | {
"id": 55612,
"name": "FERMT1",
"pos": [
75,
9
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
188,
8
]
} |
Familial incontinentia pigmenti (IP [MIM 308310]), or Bloch-Sulzberger syndrome, is an X-linked dominant and male-lethal disorder. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
37,
3
]
} | {
"id": "C0021171",
"name": "Bloch Sulzberger syndrome",
"pos": [
9,
22
]
} |
Clinicians should consider EGFR mutation and EGFR-TKIs resistance in lung cancer patients with DS. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
45,
4
]
} | {
"id": "C4521042",
"name": "Complete Trisomy 21 Syndrome",
"pos": [
95,
2
]
} |
STin2 VNTR polymorphism of SLC6A4 gene may contribute to CD pathogenesis. | genomic_alterations | {
"id": 6532,
"name": "SLC6A4",
"pos": [
27,
6
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
57,
2
]
} |
The inheritance pattern in this family suggests the presence of a single major locus responsible for multiple sclerosis susceptibility, with DRB1 acting as an important modifier. | genomic_alterations | {
"id": 129831,
"name": "RBM45",
"pos": [
141,
4
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
101,
18
]
} |
Altogether, these results suggest that delirium rats induced by scopolamine may be correlated with an increased cerebral concentration of 5-HT and dopamine neurotransmitters system; the selective 5-HT(1A) antagoniszts can reverse the delirium symptoms at some extent through tendering PI3K/Akt/mammalian target of rapamycin complex 1 (mTOR) activation-induced NLRP3 activity and then reducing IL-1β release. | NA | {
"id": 2475,
"name": "MTOR",
"pos": [
294,
29
]
} | {
"id": "C0011206",
"name": "Delirium",
"pos": [
234,
8
]
} |
Macroarray analysis was used to compare equal amounts of cDNA from wild-type and rd/rd (retinal degeneration) mice, collected at P90 when photoreceptor degeneration is virtually complete. | NA | {
"id": 821,
"name": "CANX",
"pos": [
129,
3
]
} | {
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
88,
20
]
} |
We have reported previously that HIV-TAT-dominant negative (dn) Ras inhibits eosinophil adhesion to ICAM-1 after activation by IL-5 and eotaxin. | NA | {
"id": 6898,
"name": "TAT",
"pos": [
37,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
88,
8
]
} |
The present results suggest that common dysfunctional variants of ABCG2 decrease extra-renal urate excretion including gut excretion and cause hyperuricemia. | genomic_alterations | {
"id": 9429,
"name": "ABCG2",
"pos": [
66,
5
]
} | {
"id": "C0740394",
"name": "Hyperuricemia",
"pos": [
143,
13
]
} |
Biopsy specimens (bone marrow and gastrointestinal mucosa) of a 69 year old woman with mild blood lymphocytosis and a history of urticaria pigmentosa-like skin lesions that had disappeared a few years earlier, were investigated immunohistochemically using antibodies against CD3, CD5, CD20, CD23, CD25, CD34, CD117, chymase, and tryptase. | NA | {
"id": 3559,
"name": "IL2RA",
"pos": [
297,
4
]
} | {
"id": "C0024282",
"name": "Lymphocytosis",
"pos": [
98,
13
]
} |
Histological examination revealed a demyelinating neuropathy and axon degeneration, and molecular analysis of signaling pathways showed reduced protein kinase B (PKB, AKT) activation in the nerves of Epigen-tg mice, indicating that the muscular phenotype is secondary to PNS demyelination and axon degeneration. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
167,
3
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
275,
13
]
} |
A number of rare mutations linked to familial AD (FAD) on the Aβ precursor protein (APP), Presenilin-1 (PS1), Presenilin- 2 (PS2), Adamalysin10, and other genetic risk factors for sporadic AD such as the ε4 allele of Apolipoprotein E (ApoE-ε4) foster the accumulation of Aβ and also induce the entire spectrum of pathology associated with the disease. | NA | {
"id": 351,
"name": "APP",
"pos": [
84,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
180,
8
]
} |
An alteration in CCL17 and CCL20 might contribute to the Treg/Th17 imbalance in MPE, which partially predicts a poor prognosis in patients with lung cancer. | biomarker | {
"id": 6364,
"name": "CCL20",
"pos": [
27,
5
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
144,
11
]
} |
Univariate analyses showed that stage of fibrosis, hemoglobin, platelet counts, ISDR mutations, serum HCV RNA level, and adherence to PEG-IFN plus RBV were significantly correlated with SVR rates. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
138,
3
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
51,
10
]
} |
Seven tumor samples from a stage IVc PTC patient were analyzed by RNA-Seq: two areas from the primary tumor, four areas from two LN metastases, and one area from a pleural metastasis (PLM). | NA | {
"id": 5348,
"name": "FXYD1",
"pos": [
184,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
6,
5
]
} |
In this report, we first confirmed that expression of Ccd1, a mouse homologous gene of DIXDC1, was up-regulated in embryonic developing nervous system. | NA | {
"id": 85458,
"name": "DIXDC1",
"pos": [
87,
6
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
136,
14
]
} |
Plasma levels of circulating hemostatic factors (fibrinogen, factor VII, plasminogen activator inhibitor-1, von Willebrand factor, tissue plasminogen activator, D-dimer) and hematological phenotypes (platelet aggregation, viscosity, hemoglobin, red blood cell count, mean corpuscular volume, mean corpuscular hemoglobin concentration) were obtained in approximately 1000 Framingham Heart Study (FHS) participants from 310 families. | NA | {
"id": 7450,
"name": "VWF",
"pos": [
108,
21
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
233,
10
]
} |
A comprehensive analysis of the phenotype of the Crtap-/- mice revealed multiple abnormalities of connective tissue, including in the lungs, kidneys, and skin, consistent with systemic dysregulation of collagen homeostasis within the extracellular matrix. | NA | {
"id": 10491,
"name": "CRTAP",
"pos": [
49,
5
]
} | {
"id": "C0000772",
"name": "Multiple congenital anomalies",
"pos": [
72,
22
]
} |
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis. | genomic_alterations | {
"id": 8926,
"name": "SNURF",
"pos": [
108,
3
]
} | {
"id": "C0026847",
"name": "Spinal Muscular Atrophy",
"pos": [
23,
23
]
} |
The genotype GSTP1-Val (105)/Val (105) was more frequent in patients with chronic hepatitis (19.4%) than HBV normal carriers (2.4%; OR 9.65, 95% CI 1.1-82.8). | NA | {
"id": 2950,
"name": "GSTP1",
"pos": [
13,
5
]
} | {
"id": "C0019189",
"name": "Hepatitis, Chronic",
"pos": [
74,
17
]
} |
Our study validates the suppressive role of NRSN2 in both clinicopathologic and biological aspects in HCC tumorigenesis. | NA | {
"id": 80023,
"name": "NRSN2",
"pos": [
44,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
106,
13
]
} |
However, the off-target activity of lapatinib in inducing EGFR expression without tyrosine kinase activity was demonstrated to render HER2-negative breast cancer cells more metastatic, suggesting a limitation to the therapeutic effectiveness of this dual inhibitor in HER2-heterogeneous tumors. | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
268,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
287,
6
]
} |
These results highlight a mechanism of action of lenalidomide in MCL cases with increased tumorigenicity in vivo, which is mediated by the dissociation of cyclin D1/p27(KIP1) complexes, and subsequent proliferation blockade and apoptosis induction. | NA | {
"id": 10671,
"name": "DCTN6",
"pos": [
165,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
139,
12
]
} |
Here we show that consecutive cycles of compression-decompression under aggregating conditions lead to reversible dissociation of TTR and alpha-syn fibrils. | NA | {
"id": 7276,
"name": "TTR",
"pos": [
130,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
114,
12
]
} |
Collectively, these results underscore the critical role of NF-kappaB in the progression of muscular dystrophy and suggest the IKK/NF-kappaB signaling pathway as a potential therapeutic target for DMD. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
131,
9
]
} | {
"id": "C0026850",
"name": "Muscular Dystrophy",
"pos": [
92,
18
]
} |
These findings suggest that piebaldism may occasionally include CALM and intertriginous freckling, which may create diagnostic confusion especially in the absence of a family history of piebaldism. | NA | {
"id": 8301,
"name": "PICALM",
"pos": [
64,
4
]
} | {
"id": "C0016689",
"name": "Freckles",
"pos": [
88,
9
]
} |
The study demonstrates potent growth and pulmonary metastasis inhibitory effects of VEGF-siRNA on osteosarcoma in vivo and in vitro, which could potentially be applicable to the treatment of cancers as an antiangiogenic therapeutic in the near future. | biomarker | {
"id": 7422,
"name": "VEGFA",
"pos": [
84,
4
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
41,
20
]
} |
The alleles identified in the DNA repair gene RAD51 indicated an increased risk for MDS in MDS patients and low blood cell counts in benzene-exposed workers. | genomic_alterations | {
"id": 5888,
"name": "RAD51",
"pos": [
46,
5
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
84,
3
]
} |
The cells were transduced with a recombinant adenovirus expressing human beta-glucuronidase (GUSB), and cells overexpressing GUSB were generated. | NA | {
"id": 2990,
"name": "GUSB",
"pos": [
125,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
45,
10
]
} |
CpG methylation of the PGP9.5 gene was analyzed in cultured prostate cancer cell lines, 226 localized prostate cancer samples from radical prostatectomy cases, and 80 benign prostate hyperplasia (BPH) tissues. | NA | {
"id": 7345,
"name": "UCHL1",
"pos": [
23,
6
]
} | {
"id": "C1704272",
"name": "Benign Prostatic Hyperplasia",
"pos": [
167,
27
]
} |
Chromosomal abnormalities in transformed Ph-negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutations. | genomic_alterations | {
"id": 54790,
"name": "TET2",
"pos": [
159,
4
]
} | {
"id": "C0027022",
"name": "Myeloproliferative disease",
"pos": [
53,
28
]
} |
Aberrant expression of Cdt1 and Geminin is thus linked to DNA replication defects, aneuploidy and genomic instability. | NA | {
"id": 81620,
"name": "CDT1",
"pos": [
23,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
83,
10
]
} |
Our studies implicate ETS1 as a crucial regulator of broader oncogenic processes and specifically Mesenchymal phenotypes, such as EMT and cellular invasion. | biomarker | {
"id": 2113,
"name": "ETS1",
"pos": [
22,
4
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
147,
8
]
} |
Further subgroup analysis based on ethnicity revealed significant associations between the KCNE1 112G variant and an increased risk of AF among both Asians and Caucasians. | genomic_alterations | {
"id": 3753,
"name": "KCNE1",
"pos": [
91,
5
]
} | {
"id": "C0004238",
"name": "Atrial Fibrillation",
"pos": [
135,
2
]
} |
These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. | NA | {
"id": 9439,
"name": "MED23",
"pos": [
161,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
81,
13
]
} |
The use of a combined strategy in the initial genetic evaluation of acute leukemia patients allowed us to characterize the pattern of MLL rearrangements in our institution, including our previous discovery of two novel MLL fusion partners, the SEPT2 and CT45A2 genes, and a very rare MLL-MLLT4 fusion variant. | NA | {
"id": 4735,
"name": "SEPTIN2",
"pos": [
244,
5
]
} | {
"id": "C0085669",
"name": "Acute leukemia",
"pos": [
68,
14
]
} |
Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
91,
3
]
} | {
"id": "C0040822",
"name": "Tremor",
"pos": [
22,
6
]
} |
NKTR-181, a new molecular entity, mu-opioid receptor agonist with an inherently slow rate of central nervous system (CNS) entry, was designed to provide analgesia while reducing abuse potential. | biomarker | {
"id": 4820,
"name": "NKTR",
"pos": [
0,
4
]
} | {
"id": "C0563625",
"name": "Agnosia for Pain",
"pos": [
153,
9
]
} |
Alteration of activity and survival of osteoblasts obtained from human periodontitis patients: role of TRAIL. | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
103,
5
]
} | {
"id": "C0031099",
"name": "Periodontitis",
"pos": [
71,
13
]
} |
Use of recombinant factor VIIa in patients with warfarin-associated intracranial hemorrhage. | therapeutic | {
"id": 2155,
"name": "F7",
"pos": [
19,
10
]
} | {
"id": "C0751893",
"name": "Posterior Fossa Hemorrhage",
"pos": [
68,
23
]
} |
We also tested these LCTs for mutations in two genes, the LH/choriogonadotropin receptor (LHCGR) and the guanine nucleotide-binding protein alpha (GNAS) that had been implicated in LCT tumorigenesis. | NA | {
"id": 2778,
"name": "GNAS",
"pos": [
147,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
185,
13
]
} |
MicroRNA-133a protects against myocardial fibrosis and modulates electrical repolarization without affecting hypertrophy in pressure-overloaded adult hearts. | therapeutic | {
"id": 406922,
"name": "MIR133A1",
"pos": [
0,
15
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
31,
19
]
} |
There was no significant difference in terms of kidney function, urinary activity, SLEDAI score, presence of anti-dsDNA antibodies, CD4+/CD8+ ratio and BKV viremia and/viruria, as well as there was no significant correlation between SLEDAI score, anti-dsDNA antibodies titers and median viral load. | NA | {
"id": 920,
"name": "CD4",
"pos": [
132,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
287,
10
]
} |
Signaling mediated by p38 and JNK has well-established importance in cancer, yet the contribution of this pathway in urothelial bladder cancer is not understood. | biomarker | {
"id": 7965,
"name": "AIMP2",
"pos": [
22,
3
]
} | {
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
128,
14
]
} |
Deficiency of SAP (SLAM (signaling lymphocyte activation molecule)-associated protein) protein is associated with a severe immunodeficiency, the X-linked lymphoproliferative disease (XLP) characterized by an inappropriate immune reaction against Epstein-Barr virus infection often resulting in a fatal clinical course. | NA | {
"id": 6504,
"name": "SLAMF1",
"pos": [
19,
4
]
} | {
"id": "C0021051",
"name": "Immunologic Deficiency Syndromes",
"pos": [
123,
16
]
} |
The aim of this study was to investigate whether there is an interaction between birthweight and common variants in the TCF7L2, HHEX, PPARG, KCNJ11, SLC30A8, IGF2BP2, CDKAL1, CDKN2A/2B and JAZF1 genes in the risk of developing type 2 diabetes. | NA | {
"id": 5468,
"name": "PPARG",
"pos": [
134,
5
]
} | {
"id": "C0005612",
"name": "Birth Weight",
"pos": [
81,
11
]
} |
ERP27, ITPR1, ERO1LB, TIMP1, IL12B) emerged as differently expressed genes between asymptomatic and symptomatic patients. | NA | {
"id": 7076,
"name": "TIMP1",
"pos": [
22,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
83,
12
]
} |
In this retrospective study, 15 oligometastasized PC patients with a total of 20 bone metastases were evaluated regarding biochemical progression-free survival (PSA-PFS), time to initiation of ADT, and local control rate (LCR). | genomic_alterations | {
"id": 9520,
"name": "NPEPPS",
"pos": [
161,
3
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
81,
15
]
} |
To assess whether CYP1A1, GSTM1, GSTT1 susceptibility genotypes, smoking status and alcohol consumption factors contribute to PCa risk, gene-gene and gene-environment interactions were analyzed. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
33,
5
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
84,
19
]
} |
Since the discovery of its role in tumorigenesis, HER2 has received great attention in cancer research during the past two decades. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
51,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
36,
13
]
} |
An essential transcription factor for inflammation, nuclear factor-kappa B (NF-kappaB), plays a pivotal role for restenosis after percutaneous coronary intervention (PCI). | NA | {
"id": 5104,
"name": "SERPINA5",
"pos": [
166,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
38,
12
]
} |
To address this, we fed wild-type (WT) and human IAPP transgenic (HIP) rats either 10 weeks of regular chow or a high-fat diet and prospectively examined the relations among beta-cell mass and turnover, beta-cell ER stress, insulin secretion, and insulin sensitivity. | NA | {
"id": 64399,
"name": "HHIP",
"pos": [
66,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
247,
19
]
} |
Genetic associations with EN included known IBD susceptibility genes (PTGER4 [P = 8.8 × 10], ITGAL [0.03]) as well as SOCS5 (9.64 × 10), CD207 (3.14 × 10), ITGB3 (7.56 × 10), and rs6828740 (4q26) (P < 5.0 × 10). | genomic_alterations | {
"id": 5734,
"name": "PTGER4",
"pos": [
70,
6
]
} | {
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
44,
3
]
} |
The cytogenetic analysis of bone marrow established a novel translocation t(7;10) (p22;q24) in 100% of the cells analyzed. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
83,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
60,
13
]
} |
Mutations in ADAR1, IFIH1, and RNASEH2B can cause a phenotype of spastic paraplegia with normal neuroimaging, or in association with nonspecific dysmyelination. | NA | {
"id": 79621,
"name": "RNASEH2B",
"pos": [
31,
8
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
145,
14
]
} |
To verify the methylation status of CDH1, DAPK, COX2, hMLH1 and CDKN2A genes and to evaluate their association with Helicobacter pylori (H. pylori)-cagA(+) and Epstein Barr virus (EBV) infections in gastric adenocarcinomas. | NA | {
"id": 4513,
"name": "COX2",
"pos": [
48,
4
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
185,
10
]
} |
These data reveal that Brag2 is essential for developmental and pathological angiogenesis by promoting EC sprouting through regulation of adhesion by mediating β1-integrin internalization and link for the first time the process of β1-integrin endocytosis with angiogenesis. | NA | {
"id": 9922,
"name": "IQSEC1",
"pos": [
23,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
138,
8
]
} |
Additionally, osteopoikilosis can coincide with melorheostosis (MRO), a more severe bone disease characterised by the ectopic bone formation on the periosteal and endosteal surface of the long bones 456. | NA | {
"id": 83876,
"name": "MRO",
"pos": [
64,
3
]
} | {
"id": "C0025239",
"name": "Melorheostosis",
"pos": [
48,
14
]
} |
We showed previously that CB2 selective agonists inhibit leukocyte rolling and adhesion to CNS microvasculature and ameliorate clinical symptom in both chronic and remitting-relapsing EAE models. | NA | {
"id": 1269,
"name": "CNR2",
"pos": [
26,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
79,
8
]
} |
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