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The interaction between polymorphisms and the variable representing 'Western' and 'Eastern' environments/ lifestyles was significant for IL10-1082 (p = 0.0083) on current rhinitis, IL12b 6408 on current conjunctivitis (p = 0.016) and atopy (p = 0.034), IL8 781 on atopic eczema (p = 0.0096), CD14 -550 on current rhinitis (p = 0.022), IFNgR1 -56 on atopic eczema(p = 0.038), and STAT6 2964 on current itchy rash (p = 0.037) and total serum IgE (p = 0.042). | NA | {
"id": 3593,
"name": "IL12B",
"pos": [
181,
5
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
234,
5
]
} |
Ectopic expression of FOXP3 in mouse mammary cancer cells repressed SKP2 expression with a corresponding increase in p27 and polyploidy. | NA | {
"id": 6502,
"name": "SKP2",
"pos": [
68,
4
]
} | {
"id": "C0032578",
"name": "Polyploidy",
"pos": [
125,
10
]
} |
The 2-fold increase in the actin gliding velocity of C442Y compared with wild type (WT) may be explained at least in part by the more rapid rate of ADP dissociation. | NA | {
"id": 23038,
"name": "WDTC1",
"pos": [
148,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
152,
12
]
} |
Using a sensitive and specific reverse transcription-polymerase chain reaction (RT-PCR) assay to detect the NPM/ALK fusion transcript, we assessed the involvement of NPM/ALK in a series of histologically and immunohistochemically confirmed ALCL, in non-ALCL aggressive non-Hodgkin's lymphomas of T-cell phenotype, and in Hodgkin's disease (HD) to better define the morphologic spectrum of disease associated with this translocation. | NA | {
"id": 238,
"name": "ALK",
"pos": [
170,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
418,
13
]
} |
NS-3 (CG3703), an analog of thyrotropin-releasing hormone, ameliorates cognitive impairment in rats. | therapeutic | {
"id": 7200,
"name": "TRH",
"pos": [
19,
29
]
} | {
"id": "C0750907",
"name": "Amnestic State",
"pos": [
71,
20
]
} |
Curcumin induces radiosensitivity of in vitro and in vivo cancer models by modulating pre-mRNA processing factor 4 (Prp4). | NA | {
"id": 9128,
"name": "PRPF4",
"pos": [
116,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
58,
6
]
} |
PC3 is a cell line characteristic of prostatic small cell carcinoma. | NA | {
"id": 7832,
"name": "BTG2",
"pos": [
0,
3
]
} | {
"id": "C0262584",
"name": "Carcinoma, Small Cell",
"pos": [
47,
20
]
} |
YC-1 inhibits HIF-1alpha expression in hypoxic pancreatic cancer cells, which is accompanied by the translocation of HIF-1alpha from nucleus to cytoplasm, decreased mRNA expression of VEGF and GPI, reduced cell proliferative vitality, and increased apoptosis. | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
193,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
47,
17
]
} |
In our analysis, we found that increased expression of 12 mature miRNAs-hsa-miR-320a, hsa-miR-361-5p, hsa-miR-103a-3p, hsa-miR-21-5p, hsa-miR-374b-5p, hsa-miR-140-3p, hsa-miR-25-3p, hsa-miR-651-5p, hsa-miR-200c-3p, hsa-miR-30a-5p, hsa-miR-30c-5p, and hsa-let-7i-5p -each predicted improved breast cancer survival. | biomarker | {
"id": 406891,
"name": "MIRLET7I",
"pos": [
251,
10
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
290,
13
]
} |
Meta-analyses showed that the test of detecting MDM2 amplification by fluorescence in situ hybridization was accurate in differentiating atypical lipomatous tumor/well-differentiated liposarcoma/dedifferentiated liposarcoma from benign tumors (N = 971; sensitivity = 95%, 95% confidence interval [CI] 89-98; specificity = 100%, CI 89-100) or from other STS (N = 347; sensitivity = 99%, CI 72-100; specificity = 90%, CI 78-95); that the test of detecting SS18-SSX fusion by reverse transcription polymerase chain reaction (PCR) was accurate in differentiating synovial sarcoma from other STS (N = 532; sensitivity = 93%, CI 85-96; specificity = 99%, CI 96-100). | genomic_alterations | {
"id": 727837,
"name": "SSX2B",
"pos": [
459,
3
]
} | {
"id": "C0205824",
"name": "Liposarcoma, Dedifferentiated",
"pos": [
195,
28
]
} |
The MDM2 ID genotype was significantly higher in patients with PTC less than 40 years and associated with larger tumor size (≥1 cm). | genomic_alterations | {
"id": 4193,
"name": "MDM2",
"pos": [
4,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
113,
5
]
} |
We conclude that the anomalous expression of both Cl(-) transporters, NKCC1 and KCC2 [corrected] in TLE hippocampal subiculum probably causes altered Cl(-) transport in the "epileptic" neurons, as revealed in the microtransplanted Xenopus oocytes, and renders GABA aberrantly "exciting," a feature that may contribute to the precipitation of epileptic seizures. | biomarker | {
"id": 6558,
"name": "SLC12A2",
"pos": [
70,
5
]
} | {
"id": "C4317109",
"name": "Epileptic Seizures",
"pos": [
342,
18
]
} |
Ten Aza-dC and/or TSA up-regulated genes (CPEB1, CD9, GJA1, BCL7c, GADD45G, AKAP12, TFPI2, CCNA1, SPARC, and BNIP3) were selected for methylation analysis in six MM cell lines, 24 samples from patients with monoclonal gammopathy of undetermined significance (MGUS), and 111 samples from patients with MM. | NA | {
"id": 9590,
"name": "AKAP12",
"pos": [
76,
6
]
} | {
"id": "C0026470",
"name": "Monoclonal Gammopathy of Undetermined Significance",
"pos": [
207,
50
]
} |
Overall, 24 patients (17 with leukemia, 4 with SAA, and 3 with thalassemia) suffered graft failure: 10 patients (all grafted with Campath-1M) rejected their grafts, while 14 others (9 grafted with Campath-1M, and 5 with 1G isotype) never engrafted (p = 0.009). | NA | {
"id": 6288,
"name": "SAA1",
"pos": [
47,
3
]
} | {
"id": "C0039730",
"name": "Thalassemia",
"pos": [
63,
11
]
} |
Although, LAMP1 downregulation had a marginal effect on cellular spreading and motility on fibronectin and matrigel, it significantly altered the same on galectin-3, and ultimately leading to notably reduced lung metastasis. | biomarker | {
"id": 2335,
"name": "FN1",
"pos": [
91,
11
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
208,
15
]
} |
Serum starvation regulates E-cadherin upregulation via activation of c-Src in non-small-cell lung cancer A549 cells. | NA | {
"id": 6714,
"name": "SRC",
"pos": [
69,
5
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
6,
10
]
} |
The main outcome measures were systolic and diastolic blood pressure (SBP, DBP), mean arterial pressure (MAP), body mass index (BMI), and serum lipid, glucose and insulin levels of the 16 year-old offspring. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
75,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
44,
24
]
} |
The aim of the study was to assess if serum concentration of MC proteases: carboxypeptidase A3, cathepsin G and chymase 1 is associated with the extension of CAD and MI. | biomarker | {
"id": 1359,
"name": "CPA3",
"pos": [
75,
19
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
158,
3
]
} |
4D-CTA with a wide scan range and precise injection timing methods facilitated an anatomical approach to tumor-related vascular structures, providing detailed vascular information. | biomarker | {
"id": 105375847,
"name": "CERNA3",
"pos": [
3,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
105,
5
]
} |
Olfm4 deletion in a chronic granulomatous disease mouse model rescued them from S. aureus infection. | NA | {
"id": 10562,
"name": "OLFM4",
"pos": [
0,
5
]
} | {
"id": "C0018203",
"name": "Chronic granulomatous disease",
"pos": [
20,
29
]
} |
The association between ITPA variants and SVR remained significant when patients were subdivided by the 12- and 24-week treatment duration arms, HCV genotype, fibrosis stage, and IL28B genotype, and was not secondary to improved adherence to therapy or less pronounced anemia. | NA | {
"id": 282617,
"name": "IFNL3",
"pos": [
179,
5
]
} | {
"id": "C0206655",
"name": "Alveolar rhabdomyosarcoma",
"pos": [
139,
4
]
} |
We show that the NTR functions in cis to drive the aggregation of the downstream polycystic kidney disease (PKD) domain into a melanosomal core matrix. | NA | {
"id": 4923,
"name": "NTSR1",
"pos": [
17,
3
]
} | {
"id": "C0022680",
"name": "Polycystic Kidney Diseases",
"pos": [
81,
25
]
} |
This study evaluated the effects of growth hormone (GH) on morphology and myogenic regulatory factors (MRF) gene expression in skeletal muscle of rats with ascending aortic stenosis (AAS) induced chronic heart failure. | NA | {
"id": 745,
"name": "MYRF",
"pos": [
103,
3
]
} | {
"id": "C0003507",
"name": "Aortic Valve Stenosis",
"pos": [
166,
15
]
} |
The authors present a child with diabetes manifesting with ketoacidosis during the neonatal period, born in a large family with ten members bearing a heterozygous p.Gly223Ser mutation in GCK. | NA | {
"id": 2645,
"name": "GCK",
"pos": [
187,
3
]
} | {
"id": "C0220982",
"name": "Ketoacidosis",
"pos": [
59,
12
]
} |
On the basis of this small series of these rare testicular neoplasms, it seems that the c.402C>G mutation of the FOXL2 gene frequently found in adult type of ovarian GCT does not play any significant role in the development of ATGCT and ISCST. | NA | {
"id": 668,
"name": "FOXL2",
"pos": [
113,
10
]
} | {
"id": "C0039590",
"name": "Testicular Neoplasms",
"pos": [
48,
20
]
} |
The patients with HR-NMO had optico-spinal MS (OSMS; n=3), longitudinally extensive transverse myelitis (TM) (n=35), recurrent optic neuritis (ON) (n=2), ON with Sjögren's syndrome (n=1) and TM positive for Sjögren-A(SSA) antibody (n=1). | NA | {
"id": 811,
"name": "CALR",
"pos": [
217,
3
]
} | {
"id": "C0026976",
"name": "Myelitis, Transverse",
"pos": [
84,
19
]
} |
Gossypiboma Mimicking FDG-avid Lung Nodule. | biomarker | {
"id": 23583,
"name": "SMUG1",
"pos": [
22,
3
]
} | {
"id": "C1532195",
"name": "Gossypiboma",
"pos": [
0,
11
]
} |
Our results are consistent with the presence of a major gene in the IBD1 region close to D16S408 involved in both UC and CD. | genomic_alterations | {
"id": 130589,
"name": "GALM",
"pos": [
68,
4
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
121,
2
]
} |
PRG1, IL-10, CD68, IL-23a, and IL-12a expression in noncancerous tissue, and PRG1, ANXA1, IL-23a, IL-17a, FOXP3, and HLA-DRA expression in tumor tissues were associated with poor prognosis based on Cox regression (/Z-score/ >1.5) and were used to generate the inflammatory risk score (IRS). | NA | {
"id": 3605,
"name": "IL17A",
"pos": [
98,
6
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
202,
10
]
} |
TSC is genetically linked to two loci: TSC1 on chromosome 9q34 and TSC2 on 16p13.3. | genomic_alterations | {
"id": 7248,
"name": "TSC1",
"pos": [
39,
4
]
} | {
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
0,
3
]
} |
Ichthyosis bullosa of Siemens (IBS, MIM 146800) is a unique congenital ichthyosis characterized by mild epidermal hyperkeratosis over flexural areas, blister formation and the development of superficially denuded areas of hyperkeratotic skin. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
36,
3
]
} | {
"id": "C1848773",
"name": "Epidermal hyperkeratosis",
"pos": [
104,
24
]
} |
The leukemogenic mechanisms of CML were hypothesized 20 years later when it was discovered that the t(9;22) translocation produced a fusion gene involving the BCR gene from chromosome 22 and the ABL protooncogene from chromosome 9 [corrected] Multiple breakpoints in BCR produce fusion genes that are translated into chimeric protein products of different lengths that are associated with different leukemic subtypes. | NA | {
"id": 613,
"name": "BCR",
"pos": [
267,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
108,
13
]
} |
Given the high selectivity of this compound at the cannabinoid CB2 receptor and the well-known protective function of this receptor in neurological disorders with autoimmune component like multiple sclerosis, we assessed the immunomodulatory properties of VL15. | biomarker | {
"id": 1269,
"name": "CNR2",
"pos": [
63,
3
]
} | {
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
135,
22
]
} |
The mRNA level of the downstream NF-κB canonical pathway p65 gene and of the non-canonical pathway RelB gene were higher in the BCa and cystitis groups compared to the healthy one. | biomarker | {
"id": 5971,
"name": "RELB",
"pos": [
99,
4
]
} | {
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
128,
3
]
} |
We found the nasal discharge, but not serum, from AR group with high serum IgE (H-IgE, serum IgE >200 KIU/l) before treatment exerted many stimulating effects on normal PMN including delayed apoptosis, enhanced production of soluble intercellular adhesion molecule 1 (sICAM-1), interleukin 8 (IL-8) and prostaglandin E2 (PGE2), increased phagocytosis, and augmented cyclooxygenase 2 (COX-2) mRNA expression of PMN. | NA | {
"id": 3383,
"name": "ICAM1",
"pos": [
233,
33
]
} | {
"id": "C1260880",
"name": "Rhinorrhea",
"pos": [
13,
15
]
} |
An increased T4 level, a nonsuppressed TSH level, normal levels of FT4 and FT4D, and a low level of T3RU were clues that led to a request for specific measurement of serum TBG levels in multiple family members; family testing was essential for the diagnosis of euthyroid hyperthyroxinemia due to familial hepatic overproduction of TBG. | NA | {
"id": 6906,
"name": "SERPINA7",
"pos": [
331,
3
]
} | {
"id": "C4021549",
"name": "Euthyroid hyperthyroxinemia",
"pos": [
261,
27
]
} |
Last, mutations in 2 of these genes turned out to be frequent enough to have relevance in clinical practice: parkin mutations are common in early-onset familial and sporadic PD; moreover, emerging data delineate mutations in the LRRK2 gene (encoding the dardarin protein) as a frequent cause of the familial late onset PD forms, and even of few late-onset sporadic cases. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
254,
8
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
319,
2
]
} |
Thus, aerosolized IFN-gamma treatment could be particularly beneficial to AIDS patients at high risk of developing mycobacterial infections, that is, those with significantly declined CD4(+) T cell counts. | NA | {
"id": 920,
"name": "CD4",
"pos": [
184,
3
]
} | {
"id": "C0026918",
"name": "Mycobacterium Infections",
"pos": [
115,
24
]
} |
This study gives us an insight into the direct linkage between liver inflammation and DA neuron damage in the pathogenesis of PD and provides the potential target of NLRP3 for developing novel drugs for PD therapy. | biomarker | {
"id": 114548,
"name": "NLRP3",
"pos": [
166,
5
]
} | {
"id": "C0019158",
"name": "Hepatitis",
"pos": [
63,
18
]
} |
Haploinsufficiency of NTNG1, LPPR4, GPSM2, COL11A1 and VAV3 might have contributed to the severe psychomotor retardation and unusual craniofacial features in this patient. | NA | {
"id": 1301,
"name": "COL11A1",
"pos": [
43,
7
]
} | {
"id": "C1854919",
"name": "Severe psychomotor retardation",
"pos": [
90,
30
]
} |
After an initial setback related to increased toxicity including deaths observed in several upfront studies, there has been a resurgence in interest in this pathway following the promising efficacy of second-generation PI3K inhibitors including in patients with T cell lymphomas. | biomarker | {
"id": 5294,
"name": "PIK3CG",
"pos": [
219,
4
]
} | {
"id": "C0079772",
"name": "T-Cell Lymphoma",
"pos": [
262,
16
]
} |
Mucosal loss with increased expression of IL-6, IL-8, and COX-2 in a formula-feeding only neonatal rat model of necrotizing enterocolitis. | biomarker | {
"id": 4513,
"name": "COX2",
"pos": [
58,
5
]
} | {
"id": "C0520459",
"name": "Necrotizing Enterocolitis",
"pos": [
112,
25
]
} |
We present eight genes (KRT19, PRKCDBP, SCNN1A, POU2F2, TGFBI, COL1A2, DHRS3 and DUSP23) that are methylated in neuroblastoma, most of them not previously reported as such, some of which also distinguish between biological subsets of neuroblastoma tumors. | NA | {
"id": 1278,
"name": "COL1A2",
"pos": [
63,
6
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
234,
13
]
} |
Loss of ASRGL1 is associated with aggressive disease and poor survival, and is demonstrated for the first time to have independent prognostic value in the entire endometrial carcinoma patient population. | biomarker | {
"id": 80150,
"name": "ASRGL1",
"pos": [
8,
6
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
162,
21
]
} |
There was no significant association between FAAH SNPs and risk for childhood obesity or T2DM. | NA | {
"id": 79152,
"name": "FA2H",
"pos": [
45,
4
]
} | {
"id": "C2362324",
"name": "Pediatric Obesity",
"pos": [
68,
17
]
} |
Hepatic ABCA1, serum insulin and insulin sensitivity are normal while glucose tolerance is impaired. | NA | {
"id": 19,
"name": "ABCA1",
"pos": [
8,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
33,
19
]
} |
Alterations of the PTCH1 gene have been found to contribute to both familial and sporadic basal cell carcinoma (BCC), especially in Caucasian patients. | NA | {
"id": 5727,
"name": "PTCH1",
"pos": [
19,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
81,
8
]
} |
The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K-AKT pathway in the characteristic clinical findings of overgrowth and tumor susceptibility in this disorder. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
156,
3
]
} | {
"id": "C1849265",
"name": "Overgrowth",
"pos": [
211,
10
]
} |
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of PD. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
52,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
101,
8
]
} |
Renal injury (blood urea nitrogen, proteinuria) was assessed 2 and 7 days (NTS), or 10 and 30 days (PHN) later. | NA | {
"id": 4922,
"name": "NTS",
"pos": [
75,
3
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
35,
11
]
} |
These results suggest that the double hit of PGN+poly(I:C) induces preterm labor via reduction of a2V expression and simultaneous activation of apoptosis and inflammatory processes. | NA | {
"id": 6687,
"name": "SPG7",
"pos": [
45,
3
]
} | {
"id": "C0022876",
"name": "Premature Obstetric Labor",
"pos": [
67,
13
]
} |
In conclusion, MK2 and MK3 together play crucial roles in the regulation of the renal stress response and in the development of glomerulonephritis, which can potentially be exploited to develop novel therapeutic approaches to treat glomerular disease. | NA | {
"id": 9261,
"name": "MAPKAPK2",
"pos": [
15,
3
]
} | {
"id": "C0017658",
"name": "Glomerulonephritis",
"pos": [
128,
18
]
} |
In this study, we examined the association of 14 SNPs, which cover the entire gene, with ND, assessed by smoking quantity (SQ), heaviness of smoking index (HSI), and Fagerström Test for ND (FTND), in 2,037 subjects from 602 families of African American (AA) or EA origin. | NA | {
"id": 57016,
"name": "AKR1B10",
"pos": [
156,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
141,
7
]
} |
We investigated whether common, functional polymorphisms in GSTM1, GSTP1 and NQO1 influence airway hyperreactivity (AHR) and atopy among schoolchildren in South Africa. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
60,
5
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
125,
5
]
} |
TTP-deficient (knockout [KO]) mice exhibit an early-onset, severe inflammatory phenotype, with cachexia, erosive arthritis, left-sided cardiac valvulitis, myeloid hyperplasia, and autoimmunity, which can be prevented by injections of anti-TNF Abs, or interbreeding with TNF receptor-deficient mice. | biomarker | {
"id": 7538,
"name": "ZFP36",
"pos": [
0,
3
]
} | {
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
180,
12
]
} |
EBV-positivity was mutually exclusive with MMR-deficiency, predominantly identified in male patients, and these tumors were undifferentiated with proximal location. p53 mutant type was significantly found predominantly in the EBV-negative (60.6% vs 14.3%, P=0.001) and HER2-positive (78.0% vs 56.2%, P=0.002) groups. | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
269,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
112,
6
]
} |
Our results indicate that the t(11;14)(p13;q11) occurs exclusively in T-cell malignancies of intermediate- or late-stage thymocyte differentiation. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
39,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
77,
12
]
} |
The in vitro stimulation of PBMCs with DCs transduced with the full-length MSLN gene elicited a potent MSLN-specific cytotoxic activity against pancreatic cancer cell lines endogenously expressing MSLN by recognizing multiple MSLN epitopes and activating both CD8(+) T cells and CD4(+) helper T cells. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
260,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
144,
17
]
} |
Protective haplotypes (DR2)-DQA1*0102-B1*0602, (DR11/12/13)-DQA1*05-DQB1*0301, and (DR13)-DQA1*0103-DQB1*0603 were significantly more prevalent among controls than children with diabetes (25.6%, 33.3%, 19.2% vs. 0%, 3.2%, 0%; P<0.001). | NA | {
"id": 55717,
"name": "WDR11",
"pos": [
48,
4
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
178,
8
]
} |
Adenoid cystic carcinoma (AdCC) cell lines (ACCS and ACCT) showed higher migration responses and adhesion to the extracellular matrix (ECM), especially types I and IV collagen, than did the oral squamous cell carcinoma (SCC) lines (NA and TF). | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
135,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
97,
8
]
} |
Recently, abnormalities in Semaphorin 4D (Sema4D/CD100) or CD72, two contrareceptors involved in T and B cells cooperation, were associated with autoimmunity. | NA | {
"id": 971,
"name": "CD72",
"pos": [
59,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
10,
13
]
} |
Despite its importance in oncogenesis, the regulatory factors and mechanisms that potentiate the function of EVI1 and its consequences are partially known. | biomarker | {
"id": 2122,
"name": "MECOM",
"pos": [
109,
4
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
26,
11
]
} |
On the basis of their localization, these genes could be candidate for the gonadoblastoma locus (TTY1, TTY2) and for the control growth locus (VCY). | genomic_alterations | {
"id": 50858,
"name": "TTTY1",
"pos": [
97,
4
]
} | {
"id": "C0206661",
"name": "Gonadoblastoma",
"pos": [
75,
14
]
} |
Patients with gastric cancer displayed high frequency of HLA-DQA1*0601 (p = 0.003; OR = 20.9, 95% CI = 2.11-506.2) and HLA-DQB1*0501 alleles, the latter when compared to patients with chronic gastritis (p = 0.04; OR = 3.58, 95% CI = 1.05-12.5) and to healthy individuals (p = 0.002; OR = 4.5, 95% CI =1.59-12.7). | NA | {
"id": 3117,
"name": "HLA-DQA1",
"pos": [
57,
8
]
} | {
"id": "C0085695",
"name": "Chronic gastritis",
"pos": [
184,
17
]
} |
HIV-1 tat gene function and immunogenicity of HIV-1 Tat protein from 3 low (PS01, PS40, PS58) and 3 high (PS19, PS65, LP22) viral load infected, untreated and asymptomatic individuals from Thailand were compared. | NA | {
"id": 6898,
"name": "TAT",
"pos": [
6,
8
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
159,
12
]
} |
HDAC-inhibition counteracts everolimus resistance in renal cell carcinoma in vitro by diminishing cdk2 and cyclin A. | NA | {
"id": 890,
"name": "CCNA2",
"pos": [
107,
8
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
53,
20
]
} |
Although the RANTES -28C>G genotype had no significant association with CAD risk, the presence of the minor allele of the RANTES -403G>A single nucleotide polymorphism was associated with a lower risk of CAD {OR 0.70 [95% CI (confidence interval) 0.54-0.92], P=0.011} after adjusting for age, BMI (body mass index), cigarette smoking and alcohol consumption. | NA | {
"id": 6352,
"name": "CCL5",
"pos": [
122,
6
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
338,
19
]
} |
One or more of the MAbs were shown to reduce the spread of vaccinia virus as well as variola virus (the causative agent of smallpox) in vitro and to more effectively protect mice when administered before or 2 days after intranasal challenge with virulent vaccinia virus than a previously isolated mouse anti-A33 MAb (1G10) or vaccinia virus immunoglobulin. | NA | {
"id": 10223,
"name": "GPA33",
"pos": [
308,
3
]
} | {
"id": "C0037354",
"name": "Smallpox",
"pos": [
123,
8
]
} |
Although IDO1 is expressed in inflamed and neoplastic epithelial cells of the colon, its role in colon tumorigenesis is not well understood. | NA | {
"id": 3620,
"name": "IDO1",
"pos": [
9,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
103,
13
]
} |
In two patients originating from one family, the hyperlysinemia was caused by a contiguous gene deletion syndrome affecting AASS and PTPRZ1. | NA | {
"id": 5803,
"name": "PTPRZ1",
"pos": [
133,
6
]
} | {
"id": "C0268553",
"name": "Hyperlysinemias",
"pos": [
49,
14
]
} |
DYT1 mutation in primary torsion dystonia in a Serbian population. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
0,
4
]
} | {
"id": "C3888090",
"name": "Early onset torsion dystonia",
"pos": [
17,
24
]
} |
In a genotype-quantitative trait study involving 500 middle-aged glucose-tolerant subjects the CDK4 IVS2-31G-->A variant was associated with an increased waist circumference (P=0.03) and waist-to-hip ratio (P=0.02) and altered fasting plasma glucose (P=0.03). | NA | {
"id": 1019,
"name": "CDK4",
"pos": [
95,
4
]
} | {
"id": "C0205682",
"name": "Waist-Hip Ratio",
"pos": [
187,
18
]
} |
Subgroup analysis revealed gender- and/or smoking-specific effects of EPHX1 rs2854455 (IV-1464C > T) and rs2234922 (His139Arg), GSTT1 deletion, GSTP1 rs1695 (Ile105Val), rs947895 (+991C > A) and rs4891 (Ser185Ser) and NQO1 rs1800566 (Pro187Ser) polymorphisms. | NA | {
"id": 1728,
"name": "NQO1",
"pos": [
218,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
42,
7
]
} |
miR-26a could suppress tumor angiogenesis of HCC through HGF-cMet signaling, and it is a new hopeful therapeutic target and prognostic marker for HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
146,
3
]
} | {
"id": "C1519670",
"name": "Tumor Angiogenesis",
"pos": [
23,
18
]
} |
Deficiency of the dual ubiquitin/SUMO ligase Topors results in genetic instability and an increased rate of malignancy in mice. | NA | {
"id": 10210,
"name": "TOPORS",
"pos": [
45,
6
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
108,
10
]
} |
14), close to the t(15;17) (q21-q11-22) translocation specifically associated with APL, we analysed RAR alpha gene structure and expression in APL cells. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
104,
10
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
40,
13
]
} |
The FDFT1 rs7001819 C-allele showed no association with obesity-related quantitative measures or dichotomous measures of overweight, obesity and morbid obesity. | NA | {
"id": 2222,
"name": "FDFT1",
"pos": [
4,
5
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
121,
10
]
} |
AIP is shown to bind various proteins, including the aryl hydrocarbon receptor, Hsp90, phosphodiesterases, survivin, RET and the glucocorticoid receptor, but currently it is not clear which interaction has the leading role in pituitary tumorigenesis. | NA | {
"id": 2908,
"name": "NR3C1",
"pos": [
129,
23
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
236,
13
]
} |
To investigate the therapeutic potential of PI3K pathway inhibition in the treatment of basal-like breast cancer, we evaluated the antitumor effect of the mTOR inhibitor MK-8669 and AKT inhibitor MK-2206 in WU-BC4 and WU-BC5, two patient-derived xenograft models of basal-like breast cancer. | biomarker | {
"id": 207,
"name": "AKT1",
"pos": [
182,
3
]
} | {
"id": "C3642347",
"name": "Basal-Like Breast Carcinoma",
"pos": [
266,
24
]
} |
Hence, in order to determine the implication of atherosclerosis in the risk of developing thrombosis in aPLA positive patients, we performed a genetic association study with 3 candidate genes, APOH, LDLR and PCSK9. | genomic_alterations | {
"id": 350,
"name": "APOH",
"pos": [
193,
4
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
48,
15
]
} |
Polysialic acid (PSA) is highly expressed in many human cancers, including neuroblastoma (NB), and is critical for cellular adhesion, neuronal migration and tumor metastasis. | NA | {
"id": 9856,
"name": "KIAA0319",
"pos": [
134,
18
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
56,
7
]
} |
The myoferlin overexpressors show no skeletal muscle abnormalities, and crossing them with a dysferlin-deficient model rescues the membrane fusion defect present in dysferlin-deficient mice in vitro. | NA | {
"id": 26509,
"name": "MYOF",
"pos": [
4,
9
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
53,
13
]
} |
Increased PAFAH and oxidized lipids are associated with inflammation and atherosclerosis in hypercholesterolemic pigs. | NA | {
"id": 5048,
"name": "PAFAH1B1",
"pos": [
10,
5
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
73,
15
]
} |
These findings suggest p38 inhibition as a potential way to increase the efficacy of treatments available for malignancies associated with deregulated SHH signaling, such as basal cell carcinoma and medulloblastoma. | biomarker | {
"id": 25897,
"name": "RNF19A",
"pos": [
23,
3
]
} | {
"id": "C0278510",
"name": "Childhood Medulloblastoma",
"pos": [
199,
15
]
} |
The effects of HOXB7 on cell growth and proliferation, as well as on tumorigenesis, were examined both in vitro and in vivo, using MTT assay, colony formation assay, cell cycle analysis, soft agar assay, and tumorigenesis in nude mice. | NA | {
"id": 3217,
"name": "HOXB7",
"pos": [
15,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
208,
13
]
} |
We aimed to report the clinical picture of two asymptomatic daughters of a patient with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. | NA | {
"id": 1786,
"name": "DNMT1",
"pos": [
228,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
47,
12
]
} |
Immune checkpoints PVR and PVRL2 are prognostic markers in AML and their blockade represents a new therapeutic option. | therapeutic | {
"id": 5817,
"name": "PVR",
"pos": [
19,
3
]
} | {
"id": "C0026998",
"name": "Acute Myeloid Leukemia, M1",
"pos": [
59,
3
]
} |
Multivariate proportional hazard analysis including sex, age, Simplified Acute Physiology Score II, Sequential Organ Failure Assessment score, body mass index, necessity for continuous hemofiltration/dialysis, concentrations of plasma angiotensin II, serum aldosterone, C-reactive protein, and interleukin 6 as covariates revealed the AQP5 -1364A/C polymorphism as a strong and independent prognostic factor for 30-day survival. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
270,
18
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
143,
15
]
} |
No significant differences were observed in genotype or allele frequencies between case and control groups for VDR, CYP27B1 or CYP2R1 SNPs, either before or after stratification by recruitment centre or when restricted to patients with end-stage renal disease. | NA | {
"id": 1594,
"name": "CYP27B1",
"pos": [
116,
7
]
} | {
"id": "C0022661",
"name": "Kidney Failure, Chronic",
"pos": [
236,
23
]
} |
However, WT mice can present only mouse TSHR, and two to four amino acid species differences may preclude recognition by CD4+ T cells activated by hTSHR-adenovirus. | NA | {
"id": 920,
"name": "CD4",
"pos": [
121,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
153,
10
]
} |
Our results suggest that hyperproliferation is an early event followed by DNA aneuploidy, which in turn precedes p53 immunoreactivity in the genesis of SCC. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
113,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
78,
10
]
} |
Reduced secretion of IFN-gamma in atopic individuals has been implicated in the pathogenesis of disease, though the mechanisms leading to this reduced secretion have not been elucidated. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
21,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
34,
6
]
} |
Using cultured neonatal rat cardiomyocytes with adenoviral gene delivery and pharmacological inhibitors, we found that hypertrophy induced by a particularly aggressive LS mutation in Shp2 depends on hyperactivation of Akt and focal adhesion kinase as well as mammalian target of rapamycin. | NA | {
"id": 2475,
"name": "MTOR",
"pos": [
259,
29
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
119,
11
]
} |
A 2-base pair deletion in exon 13 of the RPGR gene that creates a frameshift was found to segregate with the retinal disease in affected males and the carrier state in female heterozygotes in this family. | genomic_alterations | {
"id": 6103,
"name": "RPGR",
"pos": [
41,
4
]
} | {
"id": "C0035309",
"name": "Retinal Diseases",
"pos": [
109,
15
]
} |
Genes that are frequently amplified in sarcoma include CDK4, YEATS4, HMGA2, MDM2, JUN, DNM3, FLT4, MYCN, MAP3K5, GLI1 and the microRNAs miR-214 and miR-199a2. | NA | {
"id": 26052,
"name": "DNM3",
"pos": [
87,
4
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
39,
7
]
} |
Numerous observational studies performed over the past few decades have demonstrated the supreme "likability" and abuse and dependence liability/addictiveness of oxycodone, with more recent mechanistic studies illuminating biological underpinnings including markedly increased active transport across the blood-brain barrier, increased phasic dopaminergism in the ventral tegmental area, nucleus accumbens and related striatal reward centers, and possibly increased kappa opioid receptor-mediated withdrawal dysphoria. | biomarker | {
"id": 4986,
"name": "OPRK1",
"pos": [
466,
21
]
} | {
"id": "C0013146",
"name": "Drug abuse",
"pos": [
114,
5
]
} |
Finally, we observed modulation of genes involved in cell growth inhibition (CGREF1, PA2G4, and PPP2R1B), increased apoptosis (FAS, TNFSF10, and BASP1), and reduced adhesion at the dermal epidermal junction (PLEC1, ITGB4, and LAMA5). | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
132,
7
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
165,
8
]
} |
We propose that zinc homeostasis in macrophages involves the coordinated action of ZIP1 and ZIP2 transporters responding differently to zinc deficiency signals and that these play important roles in macrophage efferocytosis. | biomarker | {
"id": 158401,
"name": "SHOC1",
"pos": [
92,
4
]
} | {
"id": "C0235950",
"name": "Zinc deficiency",
"pos": [
136,
15
]
} |
The results showed that intraplantar injection of carrageenan led to time-dependent development of peripheral inflammation, which resulted in a significant increase in the levels of tumor necrosis factor α (TNF-α) and interleukin 1 (IL-1) β, nitric oxide (NO) and prostaglandin E2 (PGE2) and also iNOS and COX-2 protein expression in inflamed paw. | therapeutic | {
"id": 7124,
"name": "TNF",
"pos": [
182,
21
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
110,
12
]
} |
The inhibition of cardiac remodeling by of PICOT with a concomitant increase in ventricular function and cardiomyocyte contractility suggests that PICOT may provide an efficient modality for treatment of cardiac hypertrophy and heart failure. | NA | {
"id": 10539,
"name": "GLRX3",
"pos": [
147,
5
]
} | {
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
228,
13
]
} |
Subsets and Splits