text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
Patients with axSpA who started first TNFi during 2011-2016 were stratified according to baseline Bath Ankylosing Spondylitis Disease Activity Index (BASDAI ≥ 0.0 to ≤ 4.0, > 4.0 to ≤ 5.0, > 5.0 to ≤ 6.0, > 6.0 to ≤ 7.0, > 7.0 to ≤ 8.0, > 8.0 to ≤ 9.0, and > 9.0 to ≤ 10.0). | genomic_alterations | {
"id": 3106,
"name": "HLA-B",
"pos": [
103,
22
]
} | {
"id": "C3203547",
"name": "Axial spondyloarthritis",
"pos": [
14,
5
]
} |
A strong association was found between serum levels of leptin and weight gain and cytokines/adipokines related to metabolic comorbidity, especially among female patients (in women leptin vs. weight gain, IL-6 and IL-1Ra, P<0.001; in men leptin vs. weight gain, P=0.026, leptin vs. IL-1Ra, P<0.001). | NA | {
"id": 3569,
"name": "IL6",
"pos": [
204,
4
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
248,
11
]
} |
Conditional knockout of c-Abl in the nervous system also prevents the phosphorylation of parkin, the accumulation of its substrates, and subsequent neurotoxicity in response to MPTP intoxication. | NA | {
"id": 25,
"name": "ABL1",
"pos": [
24,
5
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
37,
14
]
} |
Conversely, adding soluble BCMA-Fc or anti-BAFF and anti-APRIL antibodies enhanced B-CLL apoptosis. | biomarker | {
"id": 608,
"name": "TNFRSF17",
"pos": [
27,
4
]
} | {
"id": "C1868683",
"name": "B-CELL MALIGNANCY, LOW-GRADE",
"pos": [
83,
5
]
} |
It also led to an elevated expression of heat shock protein 70 (HSP70) and transcription factor Sp1, and increased the binding of transcription factors Sp1 and heat shock transcription factor 1 (HSF1) to the MICA/B promoter, resulting in increased expression of MICA and MICB. | NA | {
"id": 100507436,
"name": "MICA",
"pos": [
262,
4
]
} | {
"id": "C0036974",
"name": "Shock",
"pos": [
165,
5
]
} |
Most recently, undifferentiated gonadal tissue (UGT) has been identified as the likely precursor for gonadoblastoma. | NA | {
"id": 7355,
"name": "SLC35A2",
"pos": [
48,
3
]
} | {
"id": "C0206661",
"name": "Gonadoblastoma",
"pos": [
101,
14
]
} |
Among the GST genetic variants examined, the GSTT1 null genotype was more prevalent in CAD participants with 3 stenosed vessels than in control participants (OR=1.64, P=.02). | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
45,
5
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
87,
3
]
} |
Our data in the present study, combing our previous report, suggested that in the endogenous formaldehyde-induced pain in bone cancer pain rats, LSD1 in metastasized cancer cells contributed to the production of the endogenous formaldehyde. | NA | {
"id": 23028,
"name": "KDM1A",
"pos": [
145,
4
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
114,
4
]
} |
Subject to validation of the current results in further larger studies, miR-21 and miR-126 profiling could be an effective and reliable tool for the diagnosis of MM in pleural effusions complementary to cytology evaluation. | NA | {
"id": 406991,
"name": "MIR21",
"pos": [
72,
6
]
} | {
"id": "C0032227",
"name": "Pleural effusion disorder",
"pos": [
168,
17
]
} |
There is an association between the G46A polymorphism of beta2-AR and blood pressure and RAAS responses to the DASH diet, which suggests that beta2-AR may be a genetic modifier of DASH-diet responsiveness. | NA | {
"id": 4760,
"name": "NEUROD1",
"pos": [
142,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
70,
14
]
} |
Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes. | NA | {
"id": 23418,
"name": "CRB1",
"pos": [
112,
4
]
} | {
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
68,
20
]
} |
Cell cycle progression beyond the G1/S phase transition requires the activation of a transcription complex containing histone nuclear factor P (HiNF-P) and nuclear protein mapped to ataxia telangiectasia (p220(NPAT)) in response to cyclin dependent kinase 2 (CDK2)/cyclin E signaling. | NA | {
"id": 1017,
"name": "CDK2",
"pos": [
259,
4
]
} | {
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
189,
14
]
} |
We further investigated cytoplasm TARBP2 could be a novel target in treatment for late-stage breast cancer and triple-negative breast cancer (TNBC). | biomarker | {
"id": 6895,
"name": "TARBP2",
"pos": [
34,
6
]
} | {
"id": "C2216702",
"name": "malignant neoplasm of breast staging",
"pos": [
87,
19
]
} |
P7 and P21 rats were subjected to unilateral hypoxia-ischemia, and brains were analyzed at various intervals of recovery for the presence of STEP. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
7,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
53,
8
]
} |
CONCLUSIONS: The current study implicates RMND1 in the development of calcification and dermatological abnormalities, likely due to defective ATP-dependent processes in vascular smooth muscle cells and skin. | NA | {
"id": 55005,
"name": "RMND1",
"pos": [
42,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
103,
13
]
} |
Epidemiological data and variations of candidate genes for mycobacterial diseases were analysed in 111 patients with pulmonary MAC infection. | NA | {
"id": 4082,
"name": "MARCKS",
"pos": [
127,
3
]
} | {
"id": "C0026918",
"name": "Mycobacterium Infections",
"pos": [
59,
22
]
} |
In breast cancer, the strongest associations included either SNPs in or gene burden scores for genes LDLRAD1, SLC19A1, FGFBP3, CASP5, MMAB, SLC16A6, and INS-IGF2. | NA | {
"id": 723961,
"name": "INS-IGF2",
"pos": [
153,
8
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
3,
13
]
} |
Hyperthermia inhibits transforming growth factor beta-induced epithelial-mesenchymal transition (EMT) in HepG2 hepatocellular carcinoma cells. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
97,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
111,
24
]
} |
There was no association between TPH gene polymorphism and gender, family history of migraine and epilepsy, or aura. | NA | {
"id": 7166,
"name": "TPH1",
"pos": [
33,
3
]
} | {
"id": "C0236018",
"name": "Aura",
"pos": [
111,
4
]
} |
Nuclear expression levels of poly(ADP) ribose polymerase 1 in ER+ BRCA1-related cancers were similar to those in ER- BRCA1-related cancers but significantly higher than in ER+ sporadic cancers. | NA | {
"id": 23038,
"name": "WDTC1",
"pos": [
34,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
185,
7
]
} |
We found that overexpression of GRK2 through recombinant adenovirus transduction inhibits the growth of human HCC cells. | NA | {
"id": 156,
"name": "GRK2",
"pos": [
32,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
57,
10
]
} |
High tumor mutational burden (≥20 mutations/Mb) was significantly more common in ERBB-mutated samples, and ERBB3-mutated CRCs were significantly more likely to have high microsatellite instability (P<.002). | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
81,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
5,
5
]
} |
Here, we show anti-caries DNA vaccines, pGJA-P and pGJA-P/VAX, encoding Streptococcus mutans antigens fused to cytotoxic T lymphocyte antigen-4 (CTLA4), which binds to B7 molecule expressed on the surfaces of antigen-presenting cells. | NA | {
"id": 1493,
"name": "CTLA4",
"pos": [
145,
5
]
} | {
"id": "C0011334",
"name": "Dental caries",
"pos": [
19,
6
]
} |
These results demonstrate that BRCA1 mutation status may be associated with a worse disease progression in patients with breast cancer, and women who harbored a PALB2 mutation might be at a higher risk of death due to breast cancer compared to noncarriers. | genomic_alterations | {
"id": 79728,
"name": "PALB2",
"pos": [
161,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
218,
13
]
} |
Recurrent infections, asthma-like chronic reactive airway disease, hyperimmunoglobulins, hepatosplenomegaly with mildly elevated aspartate transaminase (AST), anemia, and thrombocytopenia were common and massive imidodipeptiduria was universal. | NA | {
"id": 2805,
"name": "GOT1",
"pos": [
153,
3
]
} | {
"id": "C0040034",
"name": "Thrombocytopenia",
"pos": [
171,
16
]
} |
This suggests that VANGL2 mutations may predispose to NTDs in approximately 2.5% of closed spinal NTDs (5 in 202), at a frequency that is significantly different from that of 0.4% (2 in 453) detected in open spina bifida patients (p = 0.027). | NA | {
"id": 57216,
"name": "VANGL2",
"pos": [
19,
6
]
} | {
"id": "C0917813",
"name": "Spina Bifida, Open",
"pos": [
203,
17
]
} |
Fourteen tag single nucleotide polymorphisms (tagSNPs) in MyD88, IRAK1, IRAK4 and TRAF6 were genotyped in samples of sepsis-induced ALI (n = 272) and sepsis alone patients (n = 276), and tested for association in this case-control collection. | biomarker | {
"id": 51135,
"name": "IRAK4",
"pos": [
72,
5
]
} | {
"id": "C0243026",
"name": "Sepsis",
"pos": [
150,
6
]
} |
These results highlight a novel mechanism of malignant progression in prostate cancer cells that involves β1 integrin-mediated adhesion, in concert with MT1-MMP proteolytic activity, to elicit oxidative stress and induction of a more invasive phenotype. | NA | {
"id": 4323,
"name": "MMP14",
"pos": [
153,
7
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
127,
8
]
} |
Immunohistochemical studies showed that 8 of 10 melanomas and all 15 metastases were positive for ANG, particularly in the vicinity of small vessels, whereas all benign nevi were negative. | NA | {
"id": 283,
"name": "ANG",
"pos": [
98,
3
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
169,
4
]
} |
We report a case of diffuse mesangial sclerosis with perinatal death caused by a de novo mutation in the WT1 gene in a girl with an XY-genotype. | NA | {
"id": 7490,
"name": "WT1",
"pos": [
105,
8
]
} | {
"id": "C0701826",
"name": "Perinatal death",
"pos": [
53,
15
]
} |
Together, our results revealed that IGL-1 preservation solution better protected fatty liver grafts against cold ischemia damage than HTK solution. | biomarker | {
"id": 3543,
"name": "IGLL1",
"pos": [
36,
5
]
} | {
"id": "C0015695",
"name": "Fatty Liver",
"pos": [
81,
11
]
} |
ACTH-induced seizures in an infant with West syndrome. | therapeutic | {
"id": 5443,
"name": "POMC",
"pos": [
0,
4
]
} | {
"id": "C4317109",
"name": "Epileptic Seizures",
"pos": [
13,
8
]
} |
Our findings suggest that ADRA2A plays an important role in depression therapy. | biomarker | {
"id": 150,
"name": "ADRA2A",
"pos": [
26,
6
]
} | {
"id": "C0344315",
"name": "Depressed mood",
"pos": [
60,
10
]
} |
Germline mutations in the von Hippel-Lindau (VHL) disease tumor suppressor gene (TSG) convey a high risk of clear-cell renal-cell carcinoma (CC-RCC) and most sporadic CC-RCCs demonstrate somatic inactivation of the VHL TSG. | NA | {
"id": 57045,
"name": "TWSG1",
"pos": [
219,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
158,
8
]
} |
In 18 of 20 cases of IPF/UIP investigated on serial sections, nuclear beta-catenin immunoreactivity and abnormal levels of cyclin-D1 and matrilysin were demonstrated in proliferative bronchiolar lesions (basal-cell hyperplasia, squamous metaplasia, bronchiolization, honeycombing). | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
71,
12
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
216,
11
]
} |
This is the first genetic association study of HECTD2 with sporadic CJD in an Asian population. | biomarker | {
"id": 143279,
"name": "HECTD2",
"pos": [
47,
6
]
} | {
"id": "C4310512",
"name": "Sporadic CJD",
"pos": [
59,
12
]
} |
The aim of the present study was to investigate whether single nucleotide polymorphisms (SNPs) in the sodium channel a subunit type 1 (SCN1A) gene affect the retention rate of carbamazepine (CBZ) used to treat seizures in Chinese Han patients with epilepsy. | genomic_alterations | {
"id": 6323,
"name": "SCN1A",
"pos": [
135,
5
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
248,
8
]
} |
The purpose of this study was to explore potential mediators of the effects of canagliflozin on heart failure in the CANVAS Program (CANagliflozin cardioVascular Assessment Study; NCT01032629 and CANagliflozin cardioVascular Assessment Study-Renal; NCT01989754). | genomic_alterations | {
"id": 5981,
"name": "RFC1",
"pos": [
117,
6
]
} | {
"id": "C0018801",
"name": "Heart failure",
"pos": [
96,
13
]
} |
Mutations in the central nervous system-specific voltage-gated sodium channel alpha1 subunit gene (SCN1A) lead not only to seizure syndromes but also to familial hemiplegic migraine. | genomic_alterations | {
"id": 6323,
"name": "SCN1A",
"pos": [
99,
5
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
123,
17
]
} |
The influence of functional polymorphisms in the genes coding for mannose-binding lectin (MBL) and interleukin-1 receptor antagonist (IL-1ra) on recurrent vulvovaginal candidiasis (RVVC) were examined in an urban Brazilian population. | NA | {
"id": 4153,
"name": "MBL2",
"pos": [
90,
3
]
} | {
"id": "C4023003",
"name": "Recurrent vulvovaginal candidiasis",
"pos": [
145,
34
]
} |
Inhibition of BTK kinase activity through either targeted genetic inactivation or ibrutinib in the TCL1 mouse significantly delays the development of CLL, demonstrating that BTK is a critical kinase for CLL development and expansion and thus an important target of ibrutinib. | genomic_alterations | {
"id": 8115,
"name": "TCL1A",
"pos": [
99,
4
]
} | {
"id": "C0023434",
"name": "Chronic Lymphocytic Leukemia",
"pos": [
150,
3
]
} |
Two enhancers in one risk region were occupied by AR and responded to androgen treatment; one contained a single nucleotide polymorphism (rs11986220) that resides within a FoxA1 binding site, with the prostate cancer risk allele facilitating both stronger FoxA1 binding and stronger androgen responsiveness. | genomic_alterations | {
"id": 367,
"name": "AR",
"pos": [
50,
2
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
201,
15
]
} |
These were mostly breast and colon cancer, or colon polyposis patients in whom mutation analyses of the BRCA1, BRCA2, MLH1, MSH2, APC or TP53 genes did not detect a pathogenic germline mutation. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
104,
5
]
} | {
"id": "C0334108",
"name": "Multiple polyps",
"pos": [
52,
9
]
} |
Patients receiving adrenalectomy showed a benefit of decreasing the risk of sepsis (PA vs EH, HR 0.14, P = 0.001; APA vs EH, HR 0.16, P = 0.003), but mineralocorticoid receptor antagonist treatment may differ. | genomic_alterations | {
"id": 4306,
"name": "NR3C2",
"pos": [
150,
26
]
} | {
"id": "C0036690",
"name": "Septicemia",
"pos": [
76,
6
]
} |
Notably, tissue-microarray analyses from an established cohort of women diagnosed with invasive breast carcinoma exhibited a significantly shorter disease-free (P=0.006) and overall (P=0.02) survival of patients that were positive for ER and PAR(1), compared to ER-positive but PAR(1)-negative patients. | NA | {
"id": 10899,
"name": "JTB",
"pos": [
278,
3
]
} | {
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
87,
25
]
} |
The 3p25.3-pter monosomy syndrome (MIM 613792) characteristics include low birth weight, microcephaly, psychomotor and growth retardation and abnormal facies. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
35,
3
]
} | {
"id": "C0025958",
"name": "Microcephaly",
"pos": [
89,
12
]
} |
Here, we used the polymerase chain reaction-restriction fragment length polymorphism method to genotype two single nucleotide polymorphisms (SNPs) of PDCD1 in 502 patients with chronic hepatitis B virus (HBV) infection and 359 healthy controls to determine the association between PDCD1 genotypes and serum viral load as well as the risk of chronic infection. | NA | {
"id": 5133,
"name": "PDCD1",
"pos": [
281,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
307,
10
]
} |
Hypertriglyceridemia is common among individuals with noninsulin-dependent diabetes mellitus (NIDDM), and heterozygous lipoprotein lipase (LPL) mutations may result in the syndrome of familial hypertriglyceridemia and low levels of high density lipoprotein (HDL) cholesterol. | genomic_alterations | {
"id": 4023,
"name": "LPL",
"pos": [
139,
3
]
} | {
"id": "C0020480",
"name": "Hyperlipoproteinemia Type IV",
"pos": [
184,
29
]
} |
To test the effect of rapamycin (RAPA) on hepatic tumor growth and metastasis in Sprague-Dawley (SD) rat model and explore the possible mechanism. | NA | {
"id": 55809,
"name": "TRERF1",
"pos": [
33,
4
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
67,
10
]
} |
Three hybridization signals of D107F9, a yeast artificial chromosome (YAC)-derived probe spanning the breakpoint regions of the BCR gene, were indicative of the translocation events. | NA | {
"id": 613,
"name": "BCR",
"pos": [
128,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
161,
13
]
} |
A deep understanding of APPLs and their related signaling pathways may potentially lead to therapeutic and interventional treatments for obesity, diabetes, cancer and neurodegenerative diseases. | biomarker | {
"id": 26060,
"name": "APPL1",
"pos": [
24,
4
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
146,
8
]
} |
Phase 1/2 Study of the Safety and Tolerability of Nivolumab Plus Crizotinib for the First-Line Treatment of Anaplastic Lymphoma Kinase Translocation - Positive Advanced Non-Small Cell Lung Cancer (CheckMate 370). | genomic_alterations | {
"id": 238,
"name": "ALK",
"pos": [
108,
26
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
184,
11
]
} |
TAT-LPTS-LC inhibited proliferation of telomerase-positive hepatocellular carcinoma BEL-7404 and hepatoblastoma HepG2cells and induced their death; however, it had no effect on telomerase-negative liver cell line L02 and osteosarcoma cell line Saos-2. | NA | {
"id": 54984,
"name": "PINX1",
"pos": [
4,
4
]
} | {
"id": "C0206624",
"name": "Hepatoblastoma",
"pos": [
97,
14
]
} |
Then gain-of-function and loss-of-function strategies were adopted to manipulate the HIF-1α in SH-SY5Y cells, and hypoxia-induced survivin upregulation and cell apoptosis were determined. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
85,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
114,
7
]
} |
Administration of miR-1 regressed cardiac hypertrophy (left ventricular posterior wall thickness,; 2.32±0.08 versus 2.75±0.07 mm, P<0.001) and (left ventricular septum wall thickness, 2.23±0.06 versus 2.54±0.10 mm, P<0.05) and halted the disease progression compared with control-treated animals, as assessed by echocardiography (fractional shortening, 37.60±5.01% versus 70.68±2.93%, P<0.05) and hemodynamic analyses (end-systolic pressure volume relationship/effective arterial elastance, 1.87±0.46 versus 0.96±0.38, P<0.05) after 7 weeks of treatment. | biomarker | {
"id": 79187,
"name": "FSD1",
"pos": [
18,
5
]
} | {
"id": "C0149721",
"name": "Left Ventricular Hypertrophy",
"pos": [
42,
29
]
} |
The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemia, Refsum disease, late-onset Tay-Sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia 1 and 2, spastic ataxia of Charlevoix-Saguenay, Cayman ataxia, Marinesco-Sjögren syndrome, and autosomal recessive mitochondrial ataxias (AR-CPEO, SANDO, SCAE, AHS, IOSCA, MEMSA, LBSL CoQ-deficiency, PDC-deficiency). | NA | {
"id": 197,
"name": "AHSG",
"pos": [
520,
3
]
} | {
"id": "C1853761",
"name": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1",
"pos": [
329,
30
]
} |
Chi2 test for linear trend in odds ratio provides reasonable evidence for an altered risk of thromboembolism within the range of compound MS/MSR genotypes encountered (wt/wt-->recessive/recessive) (p< or =0.05), but not within the same range of MTHFR/MTHFR genotypes. | NA | {
"id": 4552,
"name": "MTRR",
"pos": [
141,
3
]
} | {
"id": "C0040038",
"name": "Thromboembolism",
"pos": [
93,
15
]
} |
Sixteen clinical isolate H. pylori strains from eight duodenal ulcer and eight gastric adenocarcinoma patients were studied for CagA repeat sequence EPIYA motifs, C-terminal structure, and western blot analysis of CagA protein expression, translocation, and SHP-2 binding in AGS cells. | NA | {
"id": 5781,
"name": "PTPN11",
"pos": [
258,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
239,
13
]
} |
In this Review, we discuss the existing evidence for the newest treatments for BRAF-mutant melanoma, including combined BRAF and MEK inhibition and PD-1-PD-L1 checkpoint inhibitors, and assess future treatment strategies that could change metastatic melanoma from a rapidly fatal terminal illness to a chronic disease for most patients. | biomarker | {
"id": 29126,
"name": "CD274",
"pos": [
153,
5
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
239,
19
]
} |
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile. | genomic_alterations | {
"id": 107075310,
"name": "MTCO2P12",
"pos": [
76,
6
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
99,
8
]
} |
In conclusion, using the p53 gene as a probe it is obvious that the mutation spectra from skin tumors are very similar to those observed in UV-treated gene targets in model systems but statistically different from those described in other types of human cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
25,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
254,
6
]
} |
Our results showed that the GSTM1 and GSTT1 null genotypes were not associated with any incidence of endocrine dysfunction (including diabetes mellitus, hypogonadism, hypothyroidism, and growth hormone deficiency), liver function, or impaired left ventricular ejection fraction (LVEF). | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
28,
5
]
} | {
"id": "C3714796",
"name": "Isolated somatotropin deficiency",
"pos": [
187,
25
]
} |
Human ApoD, an apolipoprotein up-regulated in neurodegenerative diseases, extends lifespan and increases stress resistance in Drosophila. | therapeutic | {
"id": 347,
"name": "APOD",
"pos": [
6,
4
]
} | {
"id": "C0751733",
"name": "Degenerative Diseases, Spinal Cord",
"pos": [
46,
26
]
} |
To test the hypothesis that genetic variations in carcinogen metabolism modify the risk of pancreatic cancer (PC), we investigated the effect of single-nucleotide polymorphisms (SNPs) of the CYP1A2, NAT1, NAT2 and SULT1A1 gene on modification of the risk of PC in a hospital-based study of 755 patients with pancreatic adenocarcinoma and 636 healthy frequency-matched controls. | NA | {
"id": 1982,
"name": "EIF4G2",
"pos": [
199,
4
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
91,
17
]
} |
Taken together, these results indicate that ZEB1 promoted the invasive ability and bone metastasis of SCLC cells, and that this was partially mediated via the EMT pathway. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
159,
3
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
83,
15
]
} |
The authors investigated whether a functional polymorphism in the MAOA gene promoter (MAOA-VNTR) and a TPH gene polymorphism in intron 7 (TPH-A218C) were associated with the antidepressant response to fluvoxamine in 66 Japanese patients with major depressive disorder during a 6-week study with a specific dosage plan. | genomic_alterations | {
"id": 7166,
"name": "TPH1",
"pos": [
103,
3
]
} | {
"id": "C0041696",
"name": "Unipolar Depression",
"pos": [
242,
25
]
} |
Behavioral findings were matched by sepsis-induced loss of neurons in the hippocampus and the prefrontal cortex on serial sections after NeuN-staining and reduced cholinergic innervation in the parietal cortex measured by immunoradiography of vesicular acetylcholine transporter (VAChT). | NA | {
"id": 6572,
"name": "SLC18A3",
"pos": [
280,
5
]
} | {
"id": "C0243026",
"name": "Sepsis",
"pos": [
36,
6
]
} |
The PRNP-129 polymorphism has important effects on iatrogenic infection, including overall susceptibility and incubation period. vCJD, resulting from dietary exposure to BSE, has affected mostly the United Kingdom, followed by France. | genomic_alterations | {
"id": 5621,
"name": "PRNP",
"pos": [
4,
4
]
} | {
"id": "C4281802",
"name": "Spongiform encephalopathy",
"pos": [
170,
3
]
} |
Piascledine (PSD) is used in the treatment of osteoarthritis and has anti-inflammatory effects in vitro. | NA | {
"id": 23761,
"name": "PISD",
"pos": [
13,
3
]
} | {
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
46,
14
]
} |
Nephropathy in Pparg-null mice highlights PPARγ systemic activities in metabolism and in the immune system. | therapeutic | {
"id": 5468,
"name": "PPARG",
"pos": [
15,
5
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
26,
4
]
} |
Mantle cell lymphoma is a distinct entity among the non-Hodgkin's lymphomas characterized by a specific chromosomal translocation, the t(11;14)(q13;q32), overexpression of cyclin-D1 and frequent disease manifestations at extranodal sites. | genomic_alterations | {
"id": 595,
"name": "CCND1",
"pos": [
172,
9
]
} | {
"id": "C0019829",
"name": "Hodgkin Disease",
"pos": [
56,
19
]
} |
Solute carrier family 25A member 43 (SLC25A43) gene is a putative tumor suppressor gene that undergoes loss of heterozygosity (LOH) in human epidermal growth factor receptor 2 (HER2) positive breast cancer. | genomic_alterations | {
"id": 203427,
"name": "SLC25A43",
"pos": [
37,
8
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
66,
5
]
} |
The combined unfavorable TNFα (GA/AA) and TGFβ1 (CT/TT) genotypes were highly associated with abnormal liver function parameters and were significantly higher in high activity (A2-A3) and late fibrosis (F2-F4) HCV patients (p = 0.023, 0.029). | genomic_alterations | {
"id": 7040,
"name": "TGFB1",
"pos": [
42,
5
]
} | {
"id": "C0019196",
"name": "Hepatitis C",
"pos": [
210,
3
]
} |
Given that monoclonal antibodies against MUC18 are in preclinical development but the reason for their antitumor activity is not well understood, these translational results are relevant in the setting of human melanoma and perhaps of other cancers. | biomarker | {
"id": 4162,
"name": "MCAM",
"pos": [
41,
5
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
211,
8
]
} |
Logistic regression analyses showed that factors associated with breast cancer were BMI [OR (95% CI) =2.8 (1.4-5.5), P=0.004]; high levels of adiponectin [5.1 (2.2-11.5), P<0.001); hyperinsulinaemia [1.1 (1.0-1.1), P=0.01], leptin [3.1 (1.7-5.7), P<0.0001], estradiol [2.5 (1.3-4.7), P=0.005] and testosterone [1.3 (1.03-1.7), P=0.03]. | genomic_alterations | {
"id": 9370,
"name": "ADIPOQ",
"pos": [
142,
11
]
} | {
"id": "C0020459",
"name": "Hyperinsulinism",
"pos": [
184,
17
]
} |
In the current study, we quantified the expressions of SP precursor mRNA preprotachykinin (TAC1), NK1R (full and truncated forms), viral load (HIV-gag) and several proinflammatory and immune markers (CD4, CCR5, CXCR4, fractalkine, IL-6, IL-10, CCL2, CCL20 and CD163) in the frontal cortex of autopsied brains from HIV-1-positive individuals with or without HIV-associated neuropathology. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
211,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
131,
10
]
} |
These results suggest that AAV vectors with an oversized genome should be useful for not only hemophilia A gene therapy but also other diseases with large cDNA such as muscular dystrophy and cystic fibrosis. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
27,
3
]
} | {
"id": "C0026850",
"name": "Muscular Dystrophy",
"pos": [
168,
18
]
} |
Within these tumors, a CD133-positive cancer-initiating neural stem cell (NSC) population was shown to be resistant to gamma radiation through preferential activation of the DNA double-strand break (DSB) response machinery, including the ataxia-telangiectasia-mutated (ATM) kinase. | NA | {
"id": 8842,
"name": "PROM1",
"pos": [
23,
5
]
} | {
"id": "C0004135",
"name": "Ataxia Telangiectasia",
"pos": [
238,
21
]
} |
Unlike the lymphoblasts, this myeloid leukemia cell line (UoC-M1) was hypersensitive to mitomycin-C (MMC) and diepoxybutane (DEB) and exhibited a marked decrease in nuclear FANCA, FANCG, and FANCD2-L. Retroviral transduction of FANCA significantly reduced MMC sensitivity but FANCF, FANCG, and FANCC did not. | NA | {
"id": 2176,
"name": "FANCC",
"pos": [
294,
5
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
30,
16
]
} |
To address whether microRNA (miRNA) profiling can discriminate CTCL from benign inflammation, we studied miRNA expression levels in 198 patients with CTCL, peripheral T-cell lymphoma (PTL), and benign skin diseases (psoriasis and dermatitis). | NA | {
"id": 30,
"name": "ACAA1",
"pos": [
184,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
80,
12
]
} |
Factors positively associated with BART positivity were Myriad score, first-degree relatives with BC, infiltrating BC with ductal carcinoma in situ, younger age at BC diagnosis, estrogen receptor-negative BC for both the first and second BC, and Latin American/Caribbean ethnicity. | NA | {
"id": 23568,
"name": "ARL2BP",
"pos": [
35,
4
]
} | {
"id": "C0007124",
"name": "Noninfiltrating Intraductal Carcinoma",
"pos": [
123,
24
]
} |
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations. | genomic_alterations | {
"id": 54805,
"name": "CNNM2",
"pos": [
0,
5
]
} | {
"id": "C0266449",
"name": "Congenital anomaly of brain",
"pos": [
96,
19
]
} |
LOH on 9p (IFNA; alpha-interferon locus) was detected in 22% (5/23 informative cases) of differentiated adenocarcinomas, 10% (1/10) of undifferentiated carcinomas and none (0/6) of the adenomas. | biomarker | {
"id": 3451,
"name": "IFNA17",
"pos": [
11,
4
]
} | {
"id": "C0205698",
"name": "Undifferentiated carcinoma",
"pos": [
135,
27
]
} |
Intracerebroventricular infusion of AS (every 24 h for 3 days before ischemia) not only decreased the PSD-95 expression but also increased the number of surviving pyramidal neurons, while missense oligonucleotides (MS) had no effects. | NA | {
"id": 1742,
"name": "DLG4",
"pos": [
102,
6
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
69,
8
]
} |
The c-kit proto-oncogene encodes a 145- to 160-Kd transmembrane tyrosine kinase, which is a member of the platelet-derived growth factor receptor family and is allelic with the murine white spotting locus (W). | NA | {
"id": 3815,
"name": "KIT",
"pos": [
4,
5
]
} | {
"id": "C0025874",
"name": "Metrorrhagia",
"pos": [
190,
8
]
} |
Patients also underwent a study protocol including measurements of BMI, waist-to-hip ratio (WHR), resting energy expenditure (REE), energy intake, fat mass (FM) and free fat mass (FFM), total cholesterol (TCH), high density lipoprotein (HDL) cholesterol, triacylglyceroles (TG), leptin levels, basal glucose, immunoreactive insulin (IRI), glycated haemoglobin (HbA1c), insulin sensitivity and thyroid hormones. | NA | {
"id": 24,
"name": "ABCA4",
"pos": [
180,
3
]
} | {
"id": "C0205682",
"name": "Waist-Hip Ratio",
"pos": [
72,
18
]
} |
In the interest of cloning and analyzing the genes responsible for two very different diseases, the Rubinstein-Taybi syndrome (RTS) and acute myeloid leukemia (AML) associated with the somatic translocation t(8;16)(p11;p13.3), we constructed a high-resolution restriction map of contiguous cosmids (contig) covering 1.2 Mb of chromosome 16p13.3. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
215,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
193,
13
]
} |
Positive p53 immunoreactivity and positive p21 immunoreactivity were independent predictors of decreased survival with bladder preservation (P = 0.02 and P = 0.02, respectively) and disease-free survival (DFS; P = 0.005 and P = 0.009, respectively) in a multivariate analysis adjusting for clinical stage, ureteral obstruction, and age. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
43,
3
]
} | {
"id": "C0041956",
"name": "Ureteral obstruction",
"pos": [
306,
20
]
} |
This is because the issue of the benefits of achieving MRD-negative status in patients with CLL requires further investigation in large controlled trials, in which patients should be stratified according to not only clinical variables but also biological parameters such as cytogenetics, IGHV mutations or ZAP-70 expression. | genomic_alterations | {
"id": 28309,
"name": "IGHV3OR16-7",
"pos": [
288,
4
]
} | {
"id": "C0242596",
"name": "Neoplasm, Residual",
"pos": [
55,
3
]
} |
In 38 patients with SAH and negative angiography, CTA found six of the seven aneurysms finally diagnosed. | NA | {
"id": 6296,
"name": "ACSM3",
"pos": [
20,
3
]
} | {
"id": "C0002940",
"name": "Aneurysm",
"pos": [
77,
9
]
} |
5-Lipoxygenase (5-LO) oxidizes arachidonic acid into proinflammatory eicosanoids that may promote tumorigenesis. | NA | {
"id": 240,
"name": "ALOX5",
"pos": [
16,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
98,
13
]
} |
Cell culture and cytotoxicity assays based upon 51Cr release and flow cytometry were used to evaluate cell killing via CD95 molecule, flow cytometry to assess surface antigens, enzyme-linked immunosorbent assay (ELISA) for the determination of soluble CD95 and CD95L plasma levels, quantitative competitive (QC) reverse transcription polymerase chain reaction (RT-PCR) with an original RNA competitor for the analysis of CD95L mRNA expression and QC RT-PCR for determining plasma viral load. | NA | {
"id": 356,
"name": "FASLG",
"pos": [
421,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
480,
10
]
} |
BAL cells from healthy smokers produced 15-fold less OPN, and those cells from non-smoking healthy volunteers produced no OPN. | NA | {
"id": 6696,
"name": "SPP1",
"pos": [
122,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
83,
7
]
} |
Previous studies have shown that AROA in some cases constitutes a clinically mild presentation of oculocutaneous albinism (OCA), due to mutations in either the TYR (OCA1) or OCA2 (P) genes. | NA | {
"id": 7299,
"name": "TYR",
"pos": [
160,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
77,
4
]
} |
Elf3 plays a role in regulating bronchiolar epithelial repair kinetics following Clara cell-specific injury. | therapeutic | {
"id": 1999,
"name": "ELF3",
"pos": [
0,
4
]
} | {
"id": "C0273115",
"name": "Lung Injury",
"pos": [
101,
6
]
} |
We examined the association of common variants at the NPPA-NPPB locus with circulating concentrations of the natriuretic peptides, which have blood pressure-lowering properties. | NA | {
"id": 4878,
"name": "NPPA",
"pos": [
54,
4
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
142,
14
]
} |
Also a trial for non-resectable pancreatic cancer being carried out on the basis of the above result has proved to be innocuous and has been in progress to assess the clinical benefit and enhance the potentiality of HF10 against cancer. | biomarker | {
"id": 7584,
"name": "ZNF35",
"pos": [
216,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
229,
6
]
} |
Small molecule, oligonucleotide-based telomerase template inhibition in combination with cytolytic therapy in an in vitro androgen-independent prostate cancer model. | therapeutic | {
"id": 7012,
"name": "TERC",
"pos": [
117,
2
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
143,
15
]
} |
Together, our study demonstrates that Dectin-3 forms a heterodimeric PRR with Dectin-2 for sensing fungal infection and suggests that different CLRs may form different hetero- and homodimers, which provide different sensitivity and diversity for host cells to detect various microbial infections. | NA | {
"id": 10159,
"name": "ATP6AP2",
"pos": [
69,
3
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
285,
10
]
} |
Three of the four manifesting carriers, four of the five asymptomatic carriers, and 31 of the 32 female controls were heterozygous for the CAG repeat of HUMARA. | NA | {
"id": 367,
"name": "AR",
"pos": [
154,
6
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
58,
12
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.