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dict |
|---|---|---|---|
CD8 T cells play a key role in clearing primary virus infections and in protecting against subsequent challenge. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
0,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
48,
16
]
} |
For BRCA1 (D17S855, THRA1, D17S579) losses could be detected in invasive ductal carcinoma (IDC; n = 108) in 32-38%, invasive lobular carcinoma (ILC; n = 19) in 21-42% depending on the marker applied, but not in benign breast tumours (n = 15). | biomarker | {
"id": 9572,
"name": "NR1D1",
"pos": [
20,
5
]
} | {
"id": "C0346156",
"name": "Benign neoplasm of breast",
"pos": [
211,
21
]
} |
Studies from several animal models suggest that the Nrf2-ARE pathway collectively exhibits diverse biological functions against viral hepatitis, alcoholic and nonalcoholic liver disease, fibrosis, and cancer via target gene expression. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
52,
4
]
} | {
"id": "C1963279",
"name": "Viral Hepatitis, CTCAE 3",
"pos": [
128,
15
]
} |
If confirmed in other studies, this association may suggest a possible role of attenuated DNA repair, and NEIL3 in particular, in atherogenesis. | NA | {
"id": 55247,
"name": "NEIL3",
"pos": [
106,
5
]
} | {
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
130,
13
]
} |
Since most sporadic and hereditary colorectal neoplasms express DR4 and DR5, targeting of these receptors may be a potential prevention or treatment strategy. | NA | {
"id": 8797,
"name": "TNFRSF10A",
"pos": [
64,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
11,
8
]
} |
Current evidence indicates that extracellular matrix (ECM) remodeling is a component of acute myocardial infarction (AMI) and matrix metalloproteinase (MMP) has a role in early atherosclerosis, plaque rupture and myocardial infarction (MI). | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
54,
3
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
194,
6
]
} |
The study revealed a statistically significant co-variation (p<0.05) between meningiomas grade II associated with several clinicopathological features (Simpson grade of clinical resection, necrosis, nuclear atypia, macronucleoli, transition to small cell, sheet-like growth, high cellularity), increased expression of several biomarkers of tumour proliferation (Cyclin A, Cyclin E, MIB-1 or MDM2), proteases (Cathepsin D) or cell-adhesion (CD44) and lower expression of progesterone receptors than meningiomas grade I. | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
391,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
430,
8
]
} |
Maintenance of cyclic GMP-AMP homeostasis by ENPP1 is involved in pseudorabies virus infection. | biomarker | {
"id": 5167,
"name": "ENPP1",
"pos": [
45,
5
]
} | {
"id": "C0033839",
"name": "Pseudorabies",
"pos": [
66,
12
]
} |
Twelve meta-analyses and one pooled-analysis of community based genetic association studies were included, focusing on nine genes involved in inflammation (IL-1beta, IL-1RN, IL-8), detoxification of carcinogens (GSTs, CYP2E1), folate metabolism (MTHFR), intercellular adhesion (E-cadherin) and cell cycle regulation (p53). | NA | {
"id": 1571,
"name": "CYP2E1",
"pos": [
218,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
142,
12
]
} |
Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
22,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
48,
8
]
} |
Pleomorphic sarcomas such as osteosarcomas revealed aneuploidy with remarkably higher MDC (1.70 in osteosarcomas, p < 0.01) and SPF (6.5, p < 0.01), but lower RDR (1.70, p < 0.01). | NA | {
"id": 23541,
"name": "SEC14L2",
"pos": [
128,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
52,
10
]
} |
MicroRNA-378 functions as an onco-miR in nasopharyngeal carcinoma by repressing TOB2 expression. | NA | {
"id": 10766,
"name": "TOB2",
"pos": [
80,
4
]
} | {
"id": "C2931822",
"name": "Nasopharyngeal carcinoma",
"pos": [
41,
24
]
} |
We show that the G116A mutation impaired GABARAPL1 function in autophagosome/lysosome fusion and inhibited lysosome activity but did not alter MTOR and ULK1 activities or tumor growth <i>in vivo</i>. | genomic_alterations | {
"id": 8408,
"name": "ULK1",
"pos": [
152,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
171,
5
]
} |
NaHS significantly reduced the myocardial infarct size (31.2 ± 4.7%), inhibited the production of lipid peroxidation, MPO activity, and cell apoptosis, and downregulated expression of caspase-3, Fas, FasL, and TNF-α, which had been elevated by MIR, while PAG further increased the myocardial infarct size (58.3 ± 5.9%), and displayed opposite effects. | NA | {
"id": 220972,
"name": "MARCHF8",
"pos": [
244,
3
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
281,
18
]
} |
Eight of 110 (7.3%) NOA men had microduplications or microdeletions of E2F1 that were absent in fertile controls. | biomarker | {
"id": 1869,
"name": "E2F1",
"pos": [
71,
4
]
} | {
"id": "C1847540",
"name": "Azoospermia, Nonobstructive",
"pos": [
20,
3
]
} |
Correcting diastolic dysfunction by Ca2+ desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy. | NA | {
"id": 760,
"name": "CA2",
"pos": [
36,
3
]
} | {
"id": "C0520863",
"name": "Diastolic dysfunction",
"pos": [
11,
21
]
} |
One of the compounds, withaferin A (WA), a major constituent of the dietary compound Withania somnifera, induced Par-4-dependent apoptosis in androgen-refractory prostate cancer cells and regression of PC-3 xenografts in nude mice. | NA | {
"id": 692094,
"name": "MSMP",
"pos": [
202,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
188,
10
]
} |
We successfully transduced two colorectal cancer cell lines as evidenced by increased iNOS protein accumulation and nitrite production. | biomarker | {
"id": 51477,
"name": "ISYNA1",
"pos": [
86,
4
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
31,
17
]
} |
A child, who received successful chemotherapy for pneumoblastoma, developed a myelomonocytic leukemia with translocation t(11;19)(q23;p13) 2 years later. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
134,
3
]
} | {
"id": "C0027019",
"name": "Myelomonocytic leukemia",
"pos": [
78,
23
]
} |
A retrospective case series was conducted at Eye subspecialty center, Cairo, Egypt on 9 eyes with myopia or myopic astigmatism (spherical equivalent - 8.0 and - 12.0D). undergoing SMILE procedure and needed second interference. | genomic_alterations | {
"id": 160418,
"name": "TMTC3",
"pos": [
180,
5
]
} | {
"id": "C2363771",
"name": "Myopic astigmatism",
"pos": [
108,
18
]
} |
Surfactant protein B polymorphism and respiratory distress syndrome in premature twins. | genomic_alterations | {
"id": 6439,
"name": "SFTPB",
"pos": [
0,
20
]
} | {
"id": "C0852283",
"name": "Respiratory Distress Syndrome",
"pos": [
38,
29
]
} |
High levels of transforming growth factor-beta (TGF-beta) produced by mesothelioma cells have been related to the immune tolerance towards the tumor. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
48,
8
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
70,
12
]
} |
Among males, while the level of alcohol consumption significantly affected systolic, diastolic and pulse pressure, no significant interaction was observed between the ALDH2 genotype and the level of alcohol consumption in determining blood pressure levels. | NA | {
"id": 217,
"name": "ALDH2",
"pos": [
167,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
234,
14
]
} |
Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) encoding the chloride channel on skeletal muscle membrane. | genomic_alterations | {
"id": 1180,
"name": "CLCN1",
"pos": [
228,
5
]
} | {
"id": "C0234119",
"name": "Neuromuscular inhibition",
"pos": [
104,
17
]
} |
A recent report showed that in sporadic MTC, CDKN1B V109G polymorphism correlates with a more favorable disease progression than the wild-type allele and might be considered a new promising prognostic marker. | NA | {
"id": 1027,
"name": "CDKN1B",
"pos": [
45,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
31,
8
]
} |
This study investigated the heme oxygenase-1 (HO-1) and the endotoxin-induced uveitis (EIU) in diabetic streptozotocin (STZ)-hyperglycemic rats. | NA | {
"id": 6484,
"name": "ST3GAL4",
"pos": [
120,
3
]
} | {
"id": "C0042164",
"name": "Uveitis",
"pos": [
78,
7
]
} |
dose-dependently suppressed alcohol intake in WT C57BL/6 mice under two-bottle free choice conditions but was ineffective in NK1R KO:s, demonstrating the receptor specificity of the effect. | NA | {
"id": 6869,
"name": "TACR1",
"pos": [
125,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
28,
14
]
} |
This study inquired into the relationship between a pentanucleotide repeats(PNR) polymorphism of the apolipoprotein(a)[apo(a)] gene and coronary atherosclerotic heart disease(CHD) in Chinese Han nationality. | NA | {
"id": 10002,
"name": "NR2E3",
"pos": [
76,
3
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
145,
29
]
} |
In case 3, a dir ins (18;5)(q21.3;p13.1p14) was associated with spontaneous abortions, in case 4, the proband with mental retardation, microcephaly, and a heart defect showed a pure trisomy of (12)(q13-->q15), which had segregated from a carrier of an ins (18;12)(p11.3;q13q15). | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
264,
3
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
115,
18
]
} |
The results suggested that three overlapping genes (FGFBP2, GFOD1 and MLC1) between two modules could be a potential use of gene biomarkers for the diagnose of AMI. | biomarker | {
"id": 23209,
"name": "MLC1",
"pos": [
70,
4
]
} | {
"id": "C0155626",
"name": "Acute myocardial infarction",
"pos": [
160,
3
]
} |
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are specific types of neuroendocrine tumors that originate in the adrenal medulla or sympathetic/parasympathetic paraganglia, respectively. | NA | {
"id": 25796,
"name": "PGLS",
"pos": [
46,
4
]
} | {
"id": "C0206754",
"name": "Neuroendocrine Tumors",
"pos": [
74,
21
]
} |
We sought to identify differentially expressed genes involved in extracellular matrix (ECM) metabolism in vaginal tissues from women with SUI in the secretory phase of menses compared with asymptomatic women. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
87,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
189,
12
]
} |
RAR-alpha, RAR-beta, and RAR-gamma mRNAs were expressed in all 20 adjacent normal esophageal tissues. | NA | {
"id": 10966,
"name": "RAB40B",
"pos": [
25,
3
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
82,
10
]
} |
This case-control study investigated associations between polymorphisms in the PON and GST genes (PON1-55/192, PON2-311, GSTM1/T1) and infertility. | NA | {
"id": 5444,
"name": "PON1",
"pos": [
98,
4
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
135,
11
]
} |
Unexpectedly, a variant in the 3' untranslated region of the GCK gene interacted significantly with BMI to predict insulin sensitivity. | NA | {
"id": 2645,
"name": "GCK",
"pos": [
61,
8
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
115,
19
]
} |
Soluble ADAM8 is elevated in the bronchoalveolar lavage fluid of patients with eosinophilic pneumonia and has a physiologic role in protecting against allergic pulmonary disease in experimental murine asthma. | NA | {
"id": 101,
"name": "ADAM8",
"pos": [
8,
5
]
} | {
"id": "C0024115",
"name": "Lung diseases",
"pos": [
160,
17
]
} |
]; GAG1013GAA, plasma cell membrane glycoprotein 1 [PC-1]; K121Q, insulin receptor substrate [IRS-1]; G972R, insulin receptor substrate 2 [IRS-2]; G1057D and phosphatidylinositol 3-kinase p85 alpha [PI3K]; M326I) affect the weight change and development of Type 2 diabetes in the Finnish Diabetes Prevention Study. | NA | {
"id": 8660,
"name": "IRS2",
"pos": [
109,
28
]
} | {
"id": "C0005911",
"name": "Body Weight Changes",
"pos": [
224,
13
]
} |
We have reported that the genetic variation of the tenomodulin gene (TNMD) is associated with the risk of type 2 diabetes (T2DM), central obesity, and impaired glucose metabolism and the TNMD mRNA levels correlate with serum and mRNA levels of inflammatory markers. | NA | {
"id": 64102,
"name": "TNMD",
"pos": [
187,
4
]
} | {
"id": "C0311277",
"name": "Obesity, Abdominal",
"pos": [
130,
15
]
} |
The objective of this study was to investigate the POU5F1P1 expression in prostatic carcinoma and carcinoma surrounding prostatic tissue. | NA | {
"id": 5462,
"name": "POU5F1B",
"pos": [
51,
8
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
98,
9
]
} |
Cysteine-rich 61-connective tissue growth factor-nephroblastoma-overexpressed 5 (CCN5)/Wnt-1-induced signaling protein-2 (WISP-2) regulates microRNA-10b via hypoxia-inducible factor-1α-TWIST signaling networks in human breast cancer cells. | NA | {
"id": 8839,
"name": "CCN5",
"pos": [
122,
6
]
} | {
"id": "C0027708",
"name": "Nephroblastoma",
"pos": [
49,
14
]
} |
We hypothesize that loss of a putative PL6 secretory function due to VHL deficiency is an early and important event that may promote tumour initiation and growth. | NA | {
"id": 11070,
"name": "TMEM115",
"pos": [
39,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
133,
6
]
} |
We constructed a novel oncolytic adenovirus, Ad315-E1A, and a replication-deficient recombinant adenovirus, Ad315-EGFP, driven by the IGF2 imprinting system by inserting the H19 promoter, CCCTC binding factor, enhancer, human adenovirus early region 1A (E1A) and enhanced green fluorescent protein (EGFP) reporter gene into a pDC-315 shuttle plasmid. | NA | {
"id": 283120,
"name": "H19",
"pos": [
174,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
96,
10
]
} |
ERF-1 protein was purified from the ER-positive breast carcinoma cell line, MCF7, utilizing ion exchange and DNA affinity chromatography. | NA | {
"id": 2077,
"name": "ERF",
"pos": [
0,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
48,
16
]
} |
Local arterial Tlr2 stimulation induced neointima and atherosclerotic plaque formation in mouse femoral arteries. | NA | {
"id": 7097,
"name": "TLR2",
"pos": [
15,
4
]
} | {
"id": "C2936380",
"name": "Neointima",
"pos": [
40,
9
]
} |
MSC marker CD73 was expressed around the granulomas of ITB alone and was completely absent in the Crohn's. | NA | {
"id": 4907,
"name": "NT5E",
"pos": [
11,
4
]
} | {
"id": "C0018188",
"name": "Granuloma",
"pos": [
41,
10
]
} |
Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease. | NA | {
"id": 3736,
"name": "KCNA1",
"pos": [
20,
5
]
} | {
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
116,
20
]
} |
These results suggest that autism may be accompanied by an activation of the monocytic (increased IL-1RA) and Th-1-like (increased IFN-gamma) arm of the IRS. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
131,
3
]
} | {
"id": "C0004352",
"name": "Autistic Disorder",
"pos": [
27,
6
]
} |
In this study, we investigated the associations of polymorphisms in glutathione-S-transferases (GSTs) genes that are GSTM1, GSTT1, and GSTP1, with sporadic colorectal cancer (CRC). | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
124,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
147,
8
]
} |
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and subsequent PCR analyses identified a methylation defect at exon A/B of GNAS and a microdeletion involving exons 4-6 of the GNAS neighboring gene STX16 in the patient and in his asymptomatic brother. | NA | {
"id": 8675,
"name": "STX16",
"pos": [
229,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
261,
12
]
} |
Sensory CGRP depletion by capsaicin exacerbated hypoxia-induced pulmonary hypertension in rats, as shown by an increase in right ventricle systolic pressure, mean pulmonary artery pressure and vascular hypertrophy, accompanied with decreased p27 expression and increased expression of phosphorylated ERK1/2, c-fos and c-myc. | NA | {
"id": 796,
"name": "CALCA",
"pos": [
8,
4
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
139,
17
]
} |
Our experiments demonstrate the suppression of NORE1A, a known Ras effector, in PAX8-PPARgamma carrying FTCs. | genomic_alterations | {
"id": 5468,
"name": "PPARG",
"pos": [
85,
9
]
} | {
"id": "C0206682",
"name": "Follicular thyroid carcinoma",
"pos": [
104,
3
]
} |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expanded CGG (CGG<sup>exp</sup>) trinucleotides in the 5'UTR of the <i>FMR1</i> gene encoding fragile X mental retardation protein (FMRP). | genomic_alterations | {
"id": 2332,
"name": "FMR1",
"pos": [
261,
4
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
68,
26
]
} |
To test the hypothesis that MSX1 mutations are a common cause of congenital tooth agenesis, we screened 92 affected individuals, representing 82 nuclear families, for mutations, using single-strand conformation analysis. | NA | {
"id": 4487,
"name": "MSX1",
"pos": [
28,
4
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
76,
14
]
} |
Isocitrate dehydrogenase 1 gene (IDH1) R132H mutation status was also recently identified as a prognostic factor for malignant gliomas. | genomic_alterations | {
"id": 3417,
"name": "IDH1",
"pos": [
33,
4
]
} | {
"id": "C0555198",
"name": "Malignant Glioma",
"pos": [
117,
17
]
} |
Proviral integrations were enriched near prostate cancer susceptibility loci in cells grown in androgen-deficient medium (p < 0.001), and five candidate genes that influence AIPC were identified; ATPAF1, GCOM1, MEX3D, PTRF, and TRPM4. | NA | {
"id": 284119,
"name": "CAVIN1",
"pos": [
218,
4
]
} | {
"id": "C3469524",
"name": "PROSTATE CANCER, SUSCEPTIBILITY TO",
"pos": [
41,
30
]
} |
We hypothesized that heterozygous FLG mutation carriers who suffer from dermatitis will have strongly reduced or even absent filaggrin levels during episodes of inflammation, potentially increasing the penetration of contact allergens, and hence the risk of becoming sensitized. | NA | {
"id": 2312,
"name": "FLG",
"pos": [
125,
9
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
161,
12
]
} |
<b>Conclusions:</b> This study reports the tumor suppressive roles of FA2H on breast cancer cells through cancer stemness control. | biomarker | {
"id": 79152,
"name": "FA2H",
"pos": [
82,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
55,
5
]
} |
Hence, these and other data suggest that TBX2 is a novel candidate gene for a new multisystem malformation disorder. | biomarker | {
"id": 6909,
"name": "TBX2",
"pos": [
41,
4
]
} | {
"id": "C0302142",
"name": "Deformity",
"pos": [
94,
12
]
} |
We further showed that the expression of seven tumor-associated ERG target genes (PLA1A, CACNA1D, ATP8A2, HLA-DMB, PDE3B, TDRD1, and TMBIM1) and two tumor-associated ETV1 target genes (FKBP10 and GLYATL2) was significantly affected by specific ETS silencing in VCaP and LNCaP cell line models, respectively, whereas the expression of three candidate ERG and ETV1 shared targets (GRPR, KCNH8, and TMEM45B) was significantly affected by silencing of either ETS. | NA | {
"id": 51761,
"name": "ATP8A2",
"pos": [
98,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
149,
5
]
} |
In our study population, no significant correlation could be detected between CYP2C9*3, CYP2C9C-65 (rs9332127), CYP4F2 rs2108622, GGCX rs12714145, EPHX1 rs4653436 and PROC rs1799809 with warfarin sensitivity. | NA | {
"id": 2052,
"name": "EPHX1",
"pos": [
147,
5
]
} | {
"id": "C2608079",
"name": "WARFARIN SENSITIVITY (disorder)",
"pos": [
187,
20
]
} |
Apolipoprotein E genotypes in primary progressive aphasia. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
0,
16
]
} | {
"id": "C0282513",
"name": "Primary Progressive Aphasia (disorder)",
"pos": [
30,
27
]
} |
ALS and CHARGE syndrome: a clinical and genetic study. | biomarker | {
"id": 3483,
"name": "IGFALS",
"pos": [
0,
3
]
} | {
"id": "C0265354",
"name": "CHARGE Syndrome",
"pos": [
8,
15
]
} |
Quantitative RT-PCR showed that HS6ST2, COL1A1, F2RL1, LEPREL1, PDZK1, and PDZK1IP1 are overexpressed in thyroid carcinoma samples compared with normal thyroids. | NA | {
"id": 5174,
"name": "PDZK1",
"pos": [
64,
5
]
} | {
"id": "C0549473",
"name": "Thyroid carcinoma",
"pos": [
105,
17
]
} |
In pancreatitis patients, significant associations were found for FUT-2 non-secretor status (OR=1.53; p=8.56×10(-4)) and ABO-B (OR=1.69, p=1.0×10(-4)) with chronic pancreatitis, but not with acute pancreatitis. | NA | {
"id": 28,
"name": "ABO",
"pos": [
121,
3
]
} | {
"id": "C0030305",
"name": "Pancreatitis",
"pos": [
3,
12
]
} |
The A allele of GIPR rs10423928 was associated with impaired glucose- and GIP-stimulated insulin secretion and a decrease in BMI, lean body mass, and waist circumference. | NA | {
"id": 114897,
"name": "C1QTNF1",
"pos": [
74,
3
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
150,
19
]
} |
Earlier studies revealed that major ECM components, type I, III, and IV collagens, etc., were accumulated in glomeruli and tubulointerstitium in kidneys of Institute of Cancer Research (ICR) derived glomerulonephritis (ICGN) mice which are a novel inbred strain of mice with a hereditary nephrotic syndrome of unknown etiology and are considered to be a good model of human idiopathic nephrotic syndrome. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
36,
3
]
} | {
"id": "C0027726",
"name": "Nephrotic Syndrome",
"pos": [
288,
18
]
} |
FISH on paraffin-embedded specimens is a useful method for subclassification of glioblastoma. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
0,
4
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
80,
12
]
} |
Animal models and human studies have identified NRF2 and several NRF2 target genes as a protective system against inflammation and oxidative stress from cigarette smoke, a major causative factor in COPD development. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
65,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
114,
12
]
} |
Although p53 levels were stabilized and elevated after DNA damage, dissociation of NF-YA, and thereby p53, from the IGF-1 promoter resulted in IGF-1 induction, indicating that NF-YA was rate limiting. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
102,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
67,
12
]
} |
there was increased expression of TNFa, IL-1b, IL-8, VCAM-1and increased foam cells formation (extended atherosclerosis area) in the aortic tissues infected by Chlamydia pneumoniae (5(1/2) months, 7(1/2) months and 9(1/2) months), which was significantly different compared to the control group. | NA | {
"id": 3553,
"name": "IL1B",
"pos": [
40,
5
]
} | {
"id": "C4281786",
"name": "Presence of foam cells",
"pos": [
73,
10
]
} |
Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH [1]. | genomic_alterations | {
"id": 4436,
"name": "MSH2",
"pos": [
122,
4
]
} | {
"id": "C0796074",
"name": "MOHR-TRANEBJAERG SYNDROME",
"pos": [
49,
3
]
} |
The TLR4 c.896A < G polymorphism was found in 22.5% of patients with scar-positive PN, and it was also present in 10.8% of patients with scar-negative PN and 2.9% of patients with lower UTI. | NA | {
"id": 7099,
"name": "TLR4",
"pos": [
4,
4
]
} | {
"id": "C2004491",
"name": "Cicatrix",
"pos": [
137,
4
]
} |
We found AUF1 in complexes with ARE-bearing mRNAs, previously described to be crucial for proliferation and cell cycle of thyroid carcinoma. | NA | {
"id": 3184,
"name": "HNRNPD",
"pos": [
9,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
130,
9
]
} |
β-thalassemias are caused by nearly 300 mutations of the β-globin gene, leading to a low or absent production of adult hemoglobin (HbA). | NA | {
"id": 3043,
"name": "HBB",
"pos": [
57,
8
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
119,
10
]
} |
In order to study the possible role of TTV in hepatocarcinogenesis, we investigated the frequency of the TTV genome in liver tissue of 20 HCC patients. | NA | {
"id": 2131,
"name": "EXT1",
"pos": [
105,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
46,
20
]
} |
The present study demonstrates the co-expression of Hsp60 and adhesion molecules in arterial and venous EC in response to cytokine and LPS exposure, and that oxLDL is an efficient inducer of adhesion molecules in arterial EC and not in venous EC. | NA | {
"id": 3329,
"name": "HSPD1",
"pos": [
52,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
191,
8
]
} |
Common disease-associated clones of GAS can cause both mild and severe infections because of a characteristic mutation and subsequent change in the expression of several genes that develops under host immune selection. | NA | {
"id": 2588,
"name": "GALNS",
"pos": [
36,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
55,
4
]
} |
The expression of osteopontin (OPN), a gene regulating every step in tumor progression and metastasis, was robustly up-regulated by LSF. | NA | {
"id": 7024,
"name": "TFCP2",
"pos": [
132,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
69,
17
]
} |
In conclusion, cytogenetic abnormalities are a common finding in CLL patients, and MLPA is a reliable approach that is more cost effective and faster than FISH. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
155,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
15,
25
]
} |
No AQP3 expression was demonstrated in small cell carcinoma, pleomorphic carcinoma, or metastatic colon adenocarcinoma. | NA | {
"id": 360,
"name": "AQP3",
"pos": [
3,
4
]
} | {
"id": "C0334233",
"name": "Pleomorphic carcinoma",
"pos": [
61,
21
]
} |
However, in patients with PSC, cholestasis, and bacterial cholangitis, the CA19-9 level can be affected by variants in the fucosyltransferases 2 and 3 genes (FUT2 and FUT3), which regulate the production of CA19-9. | NA | {
"id": 2524,
"name": "FUT2",
"pos": [
158,
4
]
} | {
"id": "C0008370",
"name": "Cholestasis",
"pos": [
31,
11
]
} |
The defective gut homing of CCR9+β7+ CD4+ T cells - a population that we found included most gut-homing Th17 cells, which have a critical role in mucosal immune defense - correlated with high plasma concentrations of markers of mucosal damage, microbial translocation, and systemic T cell activation. | NA | {
"id": 920,
"name": "CD4",
"pos": [
37,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
254,
13
]
} |
GLI2 mutations as a cause of hypopituitarism. | genomic_alterations | {
"id": 2736,
"name": "GLI2",
"pos": [
0,
4
]
} | {
"id": "C0020635",
"name": "Hypopituitarism",
"pos": [
29,
15
]
} |
These results correlated with the direct cellular dissociation of Hdm2 from wt p53 observed within 15 minutes in JAR choriocarcinoma cells. | biomarker | {
"id": 7157,
"name": "TP53",
"pos": [
79,
3
]
} | {
"id": "C0008497",
"name": "Choriocarcinoma",
"pos": [
117,
15
]
} |
A polymorphism in the promoter region of the CD14 gene, C-159T, has been shown to be associated with increased levels of soluble CD14 (sCD14) and decreased serum immunoglobulin E (IgE) and the expression of a more severe atopic phenotype in previous studies. | NA | {
"id": 929,
"name": "CD14",
"pos": [
129,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
221,
6
]
} |
The aim of this work was to investigate the possible contribution of IL-31 and IL-33, cytokines involved in disorders associated with itching, in the pathogenesis of pruritus in patients undergoing EGFR-TK inhibitors. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
198,
4
]
} | {
"id": "C0033774",
"name": "Pruritus",
"pos": [
166,
8
]
} |
Centerin (SERPINA9/GCET1) is a protease inhibitor with expression restricted to germinal center B cells and lymphoid malignancies with germinal center B-cell maturation. | NA | {
"id": 327657,
"name": "SERPINA9",
"pos": [
19,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
117,
12
]
} |
Srcasm inhibits Fyn-induced cutaneous carcinogenesis with modulation of Notch1 and p53. | NA | {
"id": 10040,
"name": "TOM1L1",
"pos": [
0,
6
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
38,
14
]
} |
Urokinase and AT-III concentrate treatment in inferior vena cava thrombosis associated with nephrotic syndrome. | therapeutic | {
"id": 462,
"name": "SERPINC1",
"pos": [
14,
6
]
} | {
"id": "C0040053",
"name": "Thrombosis",
"pos": [
65,
10
]
} |
The MYLK gene encodes the multifunctional enzyme, myosin light chain kinase (MLCK), involved in isoform-specific non-muscle and smooth muscle contraction and regulation of vascular permeability during inflammation. | NA | {
"id": 4638,
"name": "MYLK",
"pos": [
77,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
201,
12
]
} |
Because thymidylate synthase provides an effective prediction of chemotherapy treatment based on 5-fluorouracil, our interest in this study was focused on finding an eventual interaction between thymidylate synthase polymorphism and treatment of sporadic colorectal and gastric cancer. | NA | {
"id": 7298,
"name": "TYMS",
"pos": [
195,
20
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
246,
8
]
} |
Interestingly, death effector domain-containing proteins such as MC159, E8, K13, and cellular FLIP, but not the apoptosis inhibitors Bcl-xL, p35, and XIAP, potently suppressed programmed necrosis. | NA | {
"id": 8837,
"name": "CFLAR",
"pos": [
94,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
187,
8
]
} |
Subtle clinical differences were found for primary AS, the B27 negative patients being less frequently complicated by acute anterior uveitis and more associated with peripheral arthritis than B27 positive. | NA | {
"id": 56246,
"name": "MRAP",
"pos": [
192,
3
]
} | {
"id": "C0701807",
"name": "Acute anterior uveitis",
"pos": [
118,
22
]
} |
Moreover, the treatment of CL1-5 cells with EGCG caused downregulation of c- Jun N-terminal kinase (JNK), resulting in repression of the translocation of transcriptional factors, Sp1, and NF-κB, from the cytosol into the nucleus. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
188,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
137,
13
]
} |
In this study, we demonstrated that miR-144-3p was decreased in PC tissues and PANC-1 cells, whereas proline-rich protein 11 (PRR11) was remarkably increased. miR-144-3p mimics were discovered to inhibit cell proliferation by arresting cells at the S-phase of the cell cycle, and inducing cell apoptosis in PANC-1 cells. | biomarker | {
"id": 406936,
"name": "MIR144",
"pos": [
36,
7
]
} | {
"id": "C0346647",
"name": "Malignant neoplasm of pancreas",
"pos": [
64,
2
]
} |
Our previous studies showed that loss of the enzymatic activity of HTRA2 due to a Ser276Cys missense mutation in its catalytic domain is associated with early onset neurodegeneration, multiple tissue atrophy and premature lethality in homozygous htra2 (mnd2) mice, suggesting that HTRA2 is neuroprotective. | NA | {
"id": 27429,
"name": "HTRA2",
"pos": [
246,
5
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
200,
7
]
} |
Altered gene expression of brain-derived neurotrophic factor and receptor tyrosine kinase B in postmortem brain of suicide subjects. | NA | {
"id": 627,
"name": "BDNF",
"pos": [
27,
33
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
115,
7
]
} |
In the present study, RT-PCR and western blotting were conducted to assay the mRNA and protein levels of HIF-1α and DEC1 under normoxia and hypoxia induced by exposure to CoCl2 for different time periods (0, 2, 4, 6, 24 and 48 h). | NA | {
"id": 8553,
"name": "BHLHE40",
"pos": [
116,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
140,
7
]
} |
In-vitro exposure to SFN appears to result in the induction of apoptosis and cell-cycle arrest in a variety of tumor types. | NA | {
"id": 25996,
"name": "REXO2",
"pos": [
21,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
111,
5
]
} |
Whereas there was no appreciable difference in adenoma or hyperplastic polyp risk associated with R8W, P17L, and L237M, an increased risk was observed for individuals heterozygous for the L15-L16del polymorphism (OR = 3.6, 95% CI 1.2-11.2). | NA | {
"id": 91057,
"name": "CCDC34",
"pos": [
188,
3
]
} | {
"id": "C0333983",
"name": "Hyperplastic Polyp",
"pos": [
58,
18
]
} |
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