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|---|---|---|---|
Missense mutation of tumor suppressor p53, which exhibits oncogenic gain-of-function (GOF), not only promotes tumor progression, but also diminishes therapeutic efficacies of cancer treatments. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
21,
20
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
110,
17
]
} |
Our results demonstrate that in Ang II-induced hypertensive rats, puerarin protects against endothelial dysfunction and end organ damage with a mild reduction in SBP, and that the cardiovascular beneficial effects of puerarin may be in part attributed to its anti-oxidant and upregulation of phosphor-eNOS. | biomarker | {
"id": 6462,
"name": "SHBG",
"pos": [
162,
3
]
} | {
"id": "C0856169",
"name": "Endothelial dysfunction",
"pos": [
92,
23
]
} |
Vitamin D receptor (VDR) and CYP27B1 and CYP24A1 (respectively activating and catabolizing vitamin D) expression was studied (RT-PCR, immunohistochemistry) in normal thyroid, follicular adenoma (FA), differentiated thyroid cancer (DTC) consisting of the papillary (PTC) and follicular (FTC) subtype, and anaplastic thyroid cancer (ATC). | NA | {
"id": 1594,
"name": "CYP27B1",
"pos": [
29,
7
]
} | {
"id": "C0205647",
"name": "Follicular adenoma",
"pos": [
175,
18
]
} |
Elevated levels of procoagulant proteins factor II, factor VIII, factor IX, factor XI and fibrinogen are associated with an increased risk of venous thrombosis. | NA | {
"id": 2160,
"name": "F11",
"pos": [
76,
9
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
90,
10
]
} |
The GUD breakpoint maps within the smallest region of overlap (SRO) for the Wilms tumor (WT) gene locus, thus strengthening the previous suggestion of an association between Wilms tumor and other abnormalities of the genitourinary system. | NA | {
"id": 161003,
"name": "STOML3",
"pos": [
63,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
196,
13
]
} |
On analysis of histological and systemic parameters we evidenced an impairment of cellular responses to Plasmodium berghei ANKA infection in ABCA1(-/-) mice, as shown by lower plasma tumor necrosis factor levels, a weaker up-regulation of endothelial adhesion molecules in brain microvessels, a reduced leukocyte sequestration, as well as an ablated platelet accumulation. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
183,
21
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
251,
8
]
} |
The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia. | genomic_alterations | {
"id": 867,
"name": "CBL",
"pos": [
90,
3
]
} | {
"id": "C3839741",
"name": "Core binding factor acute myeloid leukemia",
"pos": [
107,
42
]
} |
Neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation presents with diabetes in the first 3 months of life and sometimes with neurological features like developmental delay, muscle weakness and epilepsy. | genomic_alterations | {
"id": 3767,
"name": "KCNJ11",
"pos": [
40,
6
]
} | {
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
160,
19
]
} |
In addition, SIN also Nrf2-dependently modulated macrophage M1/M2 polarization and inhibited the IkBα phosphorylation and NF-kB nuclear translocation, hence revealing an important upstream event that contributed to its anti-inflammation and tissue protection. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
22,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
224,
12
]
} |
Fourteen patients with primary generalized dystonia (PGD) were assessed, measuring their estimated premorbid and current IQ, memory for words and faces, and working memory, language, executive function, and sustained attention, one month before and one year or more after surgery. | NA | {
"id": 5226,
"name": "PGD",
"pos": [
53,
3
]
} | {
"id": "C1848954",
"name": "Generalized dystonia",
"pos": [
31,
20
]
} |
However, two novel cases of piebaldism were reported in 2001, in which both mother and daughter having a novel Val620Ala mutation in their KIT gene showed progressive depigmentation. | genomic_alterations | {
"id": 3815,
"name": "KIT",
"pos": [
139,
3
]
} | {
"id": "C0162835",
"name": "Hypopigmentation disorder",
"pos": [
167,
14
]
} |
Patients with AA genotypes at polymorphisms rs2070697 (AA-15.3%, GA-24.1%, and GG-22.3%) or rs2236742 (AA-6.4%, GA-20.4%, and GG-22.6%) in the CTSG gene had lower risk for chronic postsurgical pain compared with wild-types. | genomic_alterations | {
"id": 1511,
"name": "CTSG",
"pos": [
143,
4
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
193,
4
]
} |
Here, we report that gestational intermittent hypoxia (GIH) elicited a sex-dependent anxiety-like behavior in male P90 offspring and activation of corticotropin-releasing hormone (CRH) and CRH type-1 receptor (CRHR1) mRNA in the hypothalamic paraventricular nucleus (PVN) and in male E19 hypothalamus. | NA | {
"id": 1392,
"name": "CRH",
"pos": [
189,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
46,
7
]
} |
The phosphoinositide 3-kinase (PI3K)/Akt signaling cascade induces cell growth, cell transformation, and neovascularization. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
31,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
105,
18
]
} |
Autosomal Dominant Polycystic Kidney Disease (ADPKD) caused by mutations in two PKD1 and PKD2 genes. | genomic_alterations | {
"id": 5311,
"name": "PKD2",
"pos": [
89,
4
]
} | {
"id": "C0085413",
"name": "Polycystic Kidney, Autosomal Dominant",
"pos": [
0,
44
]
} |
Transgene constructs could also be packaged in AAV virions, using AAV and adenovirus or HSV-1 helper functions. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
66,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
74,
10
]
} |
Proteinase 3 (PR3) is a major autoantigen in anti-neutrophil cytoplasmic antibodies (ANCA)-associated systemic vasculitis (AASV), and the proportion of neutrophils expressing PR3 on their membrane (mPR3+) is increased in AASV. | NA | {
"id": 5657,
"name": "PRTN3",
"pos": [
175,
3
]
} | {
"id": "C0264939",
"name": "Systemic Vasculitis",
"pos": [
102,
19
]
} |
Methods to suppress the function of IAP induced apoptosis in chemo-resistant cancer cells. | NA | {
"id": 248,
"name": "ALPI",
"pos": [
36,
3
]
} | {
"id": "C0677936",
"name": "Refractory cancer",
"pos": [
67,
16
]
} |
We first determined that hypoxia induces the expression of HIF-1α and GPER in CAFs, then we ascertained that the HIF-1α/GPER signaling is involved in the regulation of VEGF expression in breast cancer cells and in CAFs exposed to hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
113,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
230,
7
]
} |
A founder mutation in PALB2 accounts for up to 4% of breast cancer patients in Argentina. | genomic_alterations | {
"id": 79728,
"name": "PALB2",
"pos": [
22,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
53,
13
]
} |
We have examined the expression and distribution of immunoreactivity to angiogenesis growth factors (vascular endothelial growth factor and basic fibroblast growth factor) and selected vascular wall matrix proteins (fibronectin, Type IV collagen, and alpha smooth muscle actin) in the walls of human intracranial aneurysms from surgical biopsy or autopsy specimens. | NA | {
"id": 70,
"name": "ACTC1",
"pos": [
257,
19
]
} | {
"id": "C0007766",
"name": "Intracranial Aneurysm",
"pos": [
300,
22
]
} |
The 3 G/3 G genotype of the TYMS gene may indicate predisposition of poor response to MTX and GG genotype of GGH -354 T > G polymorphism may have high predictive value for myelosuppression in RA patients. | NA | {
"id": 7298,
"name": "TYMS",
"pos": [
28,
9
]
} | {
"id": "C0854467",
"name": "Myelosuppression",
"pos": [
172,
16
]
} |
Role of single nucleotide polymorphisms of KIF1B gene in HBV-associated viral hepatitis. | NA | {
"id": 23095,
"name": "KIF1B",
"pos": [
43,
10
]
} | {
"id": "C1963279",
"name": "Viral Hepatitis, CTCAE 3",
"pos": [
72,
15
]
} |
Since the metastasis of prostate cancer to bone often induces osteosclerosis, the possibility that these tumor cells secrete OPG is of interest. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
125,
3
]
} | {
"id": "C0029464",
"name": "Osteosclerosis",
"pos": [
62,
14
]
} |
Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study. | genomic_alterations | {
"id": 50515,
"name": "CHST11",
"pos": [
76,
6
]
} | {
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
35,
14
]
} |
Acute smoking exposure induced expression of MUC5AC and Nrf2 in both A549 cells and mouse lungs. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
56,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
6,
7
]
} |
Erythropoietin (EPO) primarily regulates red blood cell formation, and EPO serum levels are increased on hypoxic stress (e.g., anemia and altitude). | NA | {
"id": 2056,
"name": "EPO",
"pos": [
71,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
105,
7
]
} |
Human leukocyte antigen-B (HLA)-B 15:02 and HLA-A 31:01 have been identified as predictive genetic markers for CBZ hypersensitivity in Asian and European patients. | NA | {
"id": 3105,
"name": "HLA-A",
"pos": [
44,
5
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
115,
16
]
} |
In sporadic breast tumors, other BRCA1 gene loss of function mechanisms, such as down-regulation of gene expression, have been suggested. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
33,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
3,
8
]
} |
Together, these findings define a molecular mechanism of signal integration by TSC1/2 that provides insight into the ability of REDD1 to function in a hypoxia-dependent tumor suppressor pathway. | NA | {
"id": 7248,
"name": "TSC1",
"pos": [
79,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
151,
7
]
} |
A polymorphism of the switch region of the mu IgH gene (S mu) is associated with arthritis in English patients with psoriasis. | genomic_alterations | {
"id": 3492,
"name": "IGH",
"pos": [
46,
3
]
} | {
"id": "C0033860",
"name": "Psoriasis",
"pos": [
116,
9
]
} |
The expression of NF-κB increased with the development of fibrosis especially in group D; and it decreased in group E compared with groups C and D (1.43 ± 0.31 vs 1.89 ± 0.29, 1.43 ± 0.31 vs 2.53 ± 0.54, respectively, P < 0.01). | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
18,
5
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
58,
8
]
} |
In addition to frequently altered MMR genes, such as MLH1, MSH2, MSH6, and MLH3, other MMR-associated genes, such as those encoding human exonuclease 1, transforming growth factor β receptor 2, and alanine aminopeptidase, metastasis-associated protein 2, adenomatosis polyposis coli down-regulated 1, and hepatic and glial cell adhesion molecule have also been implicated in Chinese Lynch syndrome. | NA | {
"id": 4436,
"name": "MSH2",
"pos": [
59,
4
]
} | {
"id": "C0334294",
"name": "Multiple adenomatous polyps",
"pos": [
255,
12
]
} |
mRNA levels of IGFBP5, a specific substrate for PAPP-A2 protease activity, were also significantly increased, suggesting a potential role for IGFBP5 in fetal and placental growth suppression during pre-eclampsia. | NA | {
"id": 3488,
"name": "IGFBP5",
"pos": [
15,
6
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
198,
13
]
} |
In melanoma, several adhesion receptors of the integrin family (eg, alpha V beta 3, alpha 4 beta 1, alpha 2 beta 1) and the CD44 receptor are potentially relevant in this process. | NA | {
"id": 3476,
"name": "IGBP1",
"pos": [
84,
7
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
3,
8
]
} |
These data suggest that polymorphisms at the MIF locus may influence the levels of MIF produced in the innate response to malaria infection and the likelihood of anemic complications. | NA | {
"id": 268,
"name": "AMH",
"pos": [
83,
3
]
} | {
"id": "C0024530",
"name": "Malaria",
"pos": [
122,
7
]
} |
The SMN1 and NAIP genes are related to the development of spinal muscular atrophy (SMA), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. | NA | {
"id": 4671,
"name": "NAIP",
"pos": [
13,
4
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
190,
7
]
} |
Our findings suggest that SREBP2-miR-92a-inflammasome exacerbates endothelial dysfunction during oxidative stress. | biomarker | {
"id": 6721,
"name": "SREBF2",
"pos": [
26,
6
]
} | {
"id": "C0856169",
"name": "Endothelial dysfunction",
"pos": [
66,
23
]
} |
Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
191,
3
]
} | {
"id": "C0026827",
"name": "Muscle hypotonia",
"pos": [
269,
9
]
} |
Our results show significantly higher (p<0.001) expression of CCR9 and CCL25 in serous adenocarcinoma followed by serous papillary cystadenoma, endometrioid adenocarcinoma, mucinous adenocarcinoma, cystadenoma, mucinous boderline adenocarcinoma, clear cell carcinoma, granulosa cell tumor, dysgerminoma, transitional cell carcinoma, Brenner tumor, yolk sac tumor, adenocarcinoma and fibroma cases, compared to non-neoplastic ovarian tissue. | NA | {
"id": 1238,
"name": "ACKR2",
"pos": [
62,
4
]
} | {
"id": "C0018206",
"name": "granulosa cell tumor",
"pos": [
268,
20
]
} |
The NF-kappaB pathway appears to play a major role in IBC, possibly contributing to the unusual phenotype and aggressiveness of this form of breast cancer. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
4,
9
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
110,
14
]
} |
Thymoma is a rare epithelial tumor arising from the thymus in the anterior mediastinum. | biomarker | {
"id": 7063,
"name": "THM",
"pos": [
0,
7
]
} | {
"id": "C1368683",
"name": "Epithelioma",
"pos": [
18,
16
]
} |
The aim of the study was to evaluate the usefulness of 3 chimeric Toxoplasma gondii antigens, P35-MAG1, MIC1-ROP1 and MAG1-ROP1, in the serodiagnosis of an acute toxoplasmosis in humans. | NA | {
"id": 8851,
"name": "CDK5R1",
"pos": [
94,
3
]
} | {
"id": "C0040558",
"name": "Toxoplasmosis",
"pos": [
162,
13
]
} |
Our results suggest that the CYP3A43-Pro(340)Ala polymorphism contributes to prostate cancer risk. | genomic_alterations | {
"id": 64816,
"name": "CYP3A43",
"pos": [
29,
7
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
77,
15
]
} |
There was a high correlation between measures of viral load in plasma and in DBS/DPS (r=0.96 and 0.85 respectively, P<0.001). | NA | {
"id": 4036,
"name": "LRP2",
"pos": [
77,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
49,
10
]
} |
N-cadherin-mediated adhesion to MSCs was associated with increased cytoplasmic N-cadherin-β-catenin complex formation as well as enhanced β-catenin nuclear translocation and transcriptional activity. | NA | {
"id": 1000,
"name": "CDH2",
"pos": [
79,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
20,
8
]
} |
Polymorphism in p53 may influence individual responsiveness to cancer therapy. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
16,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
63,
6
]
} |
Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation in females, with an incidence of 1 in 10,000-15,000 (ref. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
20,
3
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
114,
18
]
} |
Caffeine induced an increase in the intracellular Ca(2+) concentration and ROS generation leading to p38 MAPK activation and ERK inactivation, respectively. | biomarker | {
"id": 1398,
"name": "CRK",
"pos": [
101,
3
]
} | {
"id": "C0236734",
"name": "Caffeine related disorders",
"pos": [
0,
8
]
} |
Originally, the primary risk associated with OS was the occurrence of frank ovarian hyperstimulation syndrome (OHSS), a possibly dreadful-sometime fatal-complication of ART. | genomic_alterations | {
"id": 9048,
"name": "ARTN",
"pos": [
169,
3
]
} | {
"id": "C0085083",
"name": "Ovarian Hyperstimulation Syndrome",
"pos": [
76,
33
]
} |
We conducted a genome-wide association study (GWAS) and a replication study with a total of 123 southern Chinese with TPP (cases) and 1,170 healthy controls and identified a susceptibility locus on chromosome 17q24.3 near KCNJ2 (rs312691: odds ratio (OR) = 3.3; P(meta-analysis) = 1.8 × 10(-14)). | genomic_alterations | {
"id": 3759,
"name": "KCNJ2",
"pos": [
222,
5
]
} | {
"id": "C0268446",
"name": "Thyrotoxic periodic paralysis",
"pos": [
118,
3
]
} |
Both estrogen receptor and progesterone receptor expressions were observed in STAs, SFTs, and cellular angiofibromas. | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
5,
17
]
} | {
"id": "C0206731",
"name": "Angiofibroma",
"pos": [
103,
13
]
} |
Oncolytic virotherapy for prostate cancer by E1A, E1B mutant adenovirus. | NA | {
"id": 594,
"name": "BCKDHB",
"pos": [
50,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
26,
15
]
} |
Evidence for two susceptibility loci on chromosomes 22q12 and 6p21-p22 in Chinese generalized vitiligo families. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
67,
3
]
} | {
"id": "C1304470",
"name": "Generalized vitiligo",
"pos": [
82,
20
]
} |
These results underscore the importance of ADH1B and ADH1C in the association between alcohol consumption and the risk for HNC. | genomic_alterations | {
"id": 126,
"name": "ADH1C",
"pos": [
53,
5
]
} | {
"id": "C0278996",
"name": "Malignant Head and Neck Neoplasm",
"pos": [
123,
3
]
} |
Moreover, knockdown of TMEM158 notably repressed cell adhesion via down-regulating the expression intercellular adhesion molecule1 (ICAM1) and vascular cell adhesion molecule1 (VCAM1). | NA | {
"id": 7412,
"name": "VCAM1",
"pos": [
177,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
112,
8
]
} |
A number of polymorphisms in the VEGF gene have been described as being associated with several diseases, such as diabetic retinopathy, prostate cancer and breast cancer. | genomic_alterations | {
"id": 7422,
"name": "VEGFA",
"pos": [
33,
4
]
} | {
"id": "C0011884",
"name": "Diabetic Retinopathy",
"pos": [
114,
20
]
} |
It is known that the viral E6 and E7 proteins interact with p53 and p21, respectively, altering cell cycle control and leading to chromosomal instability. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
60,
3
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
130,
23
]
} |
Reverse-phase protein array analysis of phospho-proteomic changes in mutant NRAS melanoma in response to trametinib indicated a compensatory increase in v-akt murine thymoma viral oncogene homolog signaling and decreased expression of mitogen-inducible gene 6 (MIG6), a negative regulator of epidermal growth factor receptor/v-erb-b2 erythroblastic leukemia viral oncogene homolog receptors. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
76,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
81,
8
]
} |
Pharmacological antagonism of RAGE or its genetic deletion imparts marked protection from podocyte effacement, albuminuria and glomerular sclerosis in disease models. | NA | {
"id": 177,
"name": "AGER",
"pos": [
30,
4
]
} | {
"id": "C0178664",
"name": "Glomerulosclerosis (disorder)",
"pos": [
127,
20
]
} |
[The relationship between gene polymorphism of catechol-O-methyltransferase and survival of oral pesticides suicide attempters]. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
47,
28
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
108,
7
]
} |
The findings for DRD1 also persisted when a wide range of rates of 'sporadic' (non-genetic) presentations of illness were incorporated in the analysis, but the DRD2 results did not remain statistically significant at high sporadic rates. | NA | {
"id": 1813,
"name": "DRD2",
"pos": [
160,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
222,
8
]
} |
A homozygous mutation in exon 4 of the MMAA gene was found in mutation analysis and confirmed the diagnosis of cblA-deficient MMA. | genomic_alterations | {
"id": 166785,
"name": "MMAA",
"pos": [
39,
4
]
} | {
"id": "C0276096",
"name": "Mastitis-metritis-agalactia syndrome",
"pos": [
126,
3
]
} |
Role of the tumor suppressor gene Brca1 in genetic stability and mammary gland tumor formation. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
34,
5
]
} | {
"id": "C4087397",
"name": "Mammary gland tumor",
"pos": [
65,
19
]
} |
Inversion (16)(p13.1q22), t(16;16)(p13.1;q22), and del(16)(q22) are nonrandom abnormalities associated with AML M4Eo and a favorable prognosis, compared with the standard risk group for AML. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
35,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
78,
13
]
} |
Among 150 carcinomas of multiple anatomic sites, we found the highest average expression of MSLN in serous carcinomas of the ovary and adenocarcinomas of the pancreas, consistent with previous reports, as well as measurable but less-striking expression in pulmonary, gastric/esophageal, and colorectal adenocarcinomas. | NA | {
"id": 10232,
"name": "MSLN",
"pos": [
92,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
275,
10
]
} |
In this review paper, we summarize recent findings indicating a role of CREB and its coactivators CREB binding protein and CREB-regulated transcription coactivator in cognition during normal and pathological aging. | NA | {
"id": 1385,
"name": "CREB1",
"pos": [
123,
4
]
} | {
"id": "C0001811",
"name": "Aging",
"pos": [
208,
5
]
} |
Platelet activating factor (PAF) and tumor necrosis factor-alpha (TNF alpha) interactions in endotoxemic shock: studies with BN 50739, a novel PAF antagonist. | therapeutic | {
"id": 7124,
"name": "TNF",
"pos": [
35,
28
]
} | {
"id": "C0600327",
"name": "Toxic Shock Syndrome",
"pos": [
105,
5
]
} |
The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency. | NA | {
"id": 3981,
"name": "LIG4",
"pos": [
137,
9
]
} | {
"id": "C0151686",
"name": "Growth retardation",
"pos": [
278,
18
]
} |
(U87-MG) and intracranial (SNB19) injections of Ad-uPAR-infected glioma cells did not produce tumors in nude mice. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
1,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
94,
6
]
} |
[Interferon gamma as an immunological strategy for the treatment of human leishmaniasis]. | therapeutic | {
"id": 3458,
"name": "IFNG",
"pos": [
1,
16
]
} | {
"id": "C0023290",
"name": "Leishmaniasis, Visceral",
"pos": [
74,
13
]
} |
In support of this thesis, recent evidence is adduced indicating that (i) the potency of potentially modifiable AD determinants and responsiveness to intervention may be affected by the presence or absence of the ε4 allele, (ii) disclosure of APOE status to asymptomatic individuals seeking AD risk assessment is well tolerated when appropriate safeguards are in place, and (iii) awareness of personal AD risk in general, and APOE status in particular, may motivate individuals to engage in beneficial, risk-lowering behaviors. | NA | {
"id": 348,
"name": "APOE",
"pos": [
426,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
258,
12
]
} |
Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. | genomic_alterations | {
"id": 4913,
"name": "NTHL1",
"pos": [
39,
5
]
} | {
"id": "C0032580",
"name": "Adenomatous Polyposis Coli",
"pos": [
68,
21
]
} |
The cell-permeable ceramide analogues C2 and C6 each greatly potentiated induction of both CRP and SAA mRNA by IL-6+IL-1beta but did not affect the responses of alpha-fibrinogen to IL-6 or to IL-6+IL-1beta. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
91,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
167,
10
]
} |
The T877A mutant of the AR frequently found in advanced cases of prostate cancer displays an exaggerated stimulation of transcriptional activity by CDK6. | genomic_alterations | {
"id": 367,
"name": "AR",
"pos": [
24,
2
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
65,
15
]
} |
Cellular changes in prostate cancer cells induced by intermittent androgen suppression. | therapeutic | {
"id": 367,
"name": "AR",
"pos": [
6,
2
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
20,
15
]
} |
We generated periostin(-/-) mice and found no morphologically abnormal cardiomyocyte phenotypes; however, after AMI, cardiac healing was impaired in these mice, resulting in cardiac rupture as a consequence of reduced myocardial stiffness caused by a reduced number of alpha smooth muscle actin-positive cells, impaired collagen fibril formation, and decreased phosphorylation of FAK. | NA | {
"id": 5747,
"name": "PTK2",
"pos": [
380,
3
]
} | {
"id": "C0018813",
"name": "Myocardial rupture",
"pos": [
174,
15
]
} |
PKR directly interacted with HIV-1 Tat and phosphorylates the first exon of Tat exclusively at five Ser/Thr residues (T23, T40, S46, S62, and S68), which inhibits Tat-mediated provirus transcription in three critical steps: (i) phosphorylation near the arginine-rich motif (ARM) inhibits Tat translocation into the nucleus, (ii) accumulation of Tat phosphorylation abolishes Tat-Tat-responsive region (TAR) binding, and (iii) Tat phosphorylation at T23 and/or T40 obliterates the Tat-cyclin T1 interaction. | NA | {
"id": 904,
"name": "CCNT1",
"pos": [
484,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
292,
13
]
} |
When the AAV vector plasmids carrying the human factor VIII heavy chain (hHC) and the light chain (hLC) expression cassettes were cotransfected into 293 cells along with the AAV rep&cap and mini-adenovirus helper plasmids, both rAAV-hHC and rAAV-hLC were produced at the desired ratio and in high titer. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
174,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
195,
10
]
} |
SNAI1, an important regulator of epithelial-mesenchymal transition, has been associated with metastasis in various carcinoma cells. | biomarker | {
"id": 6615,
"name": "SNAI1",
"pos": [
0,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
93,
10
]
} |
We used cobalt chloride (CoCl(2) ) to mimic tumor hypoxic microenvironment and analyzed the expressions of E-cadherin, matrix metalloproteinase-2 (MMP-2), and HIF-1 alpha in esophageal carcinoma cells under hypoxia by reverse transcription polymerase chain reaction and Western blotting. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
107,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
207,
7
]
} |
We have investigated, using a PCR-RFLP assay, the effects on weight gain of two genetic variants of the uncoupling proteins and the beta 3-adrenoceptor, two major expressed proteins of the brown adipose tissue (BAT) involved in thermo-genesis. | NA | {
"id": 570,
"name": "BAAT",
"pos": [
211,
3
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
61,
11
]
} |
This study clearly demonstrates associations between BMI and IRS-4 variants in schizophrenia patients, but not in healthy controls, pointing to a possible involvement of IRS-4 in the control of body weight in schizophrenia. | NA | {
"id": 8471,
"name": "IRS4",
"pos": [
170,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
209,
13
]
} |
Thus, complement-coated RBC-derived microvesicles are elevated in HUS patients and induced in vitro by incubation of RBCs with Stx2, which also induced hemolysis. | NA | {
"id": 2054,
"name": "STX2",
"pos": [
127,
4
]
} | {
"id": "C0019054",
"name": "Hemolysis (disorder)",
"pos": [
152,
9
]
} |
Western blot assays revealed that the expression levels of nuclear factor‑E2‑related factor 2 (Nrf2) and heme oxygenase-1 (HO‑1), which exhibit oxidation resistance, were increased by sulforaphane treatment in DNCB‑induced AD mice. | biomarker | {
"id": 4780,
"name": "NFE2L2",
"pos": [
95,
4
]
} | {
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
223,
2
]
} |
Interactome analysis identified four PR-genes in signaling pathways whose dysregulation is correlated directly with pathogenesis: GRK5 and KLK6 in Alzheimer's disease; FGF14 in craniosynostosis, mental retardation and FLT1 in neuroferritinopathy. | NA | {
"id": 2869,
"name": "GRK5",
"pos": [
130,
4
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
195,
18
]
} |
Current information is insufficient regarding the prevalence, cytogenetic details, JAK2 involvement, JAK2V617F mutational status, and clinicopathologic correlates of chromosome 9p24 abnormalities. | NA | {
"id": 3717,
"name": "JAK2",
"pos": [
83,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
182,
13
]
} |
These observations demonstrate that MGr1-Ag/37LRP is actively engaged by hypoxia and represent a novel HIF-1 target. | NA | {
"id": 3921,
"name": "RPSA",
"pos": [
44,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
73,
7
]
} |
Mitochondrial malic enzyme (ME2) in pancreatic islets of the human, rat and mouse and clonal insulinoma cells. | NA | {
"id": 9620,
"name": "CELSR1",
"pos": [
28,
3
]
} | {
"id": "C0021670",
"name": "insulinoma",
"pos": [
94,
10
]
} |
The translocation does not appear to affect any transcription unit on 1p, but it disrupts the SIM1 gene on 6q. | NA | {
"id": 6492,
"name": "SIM1",
"pos": [
94,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
13
]
} |
The results showed that, although there are more than 20 beta-thalassemia mutations in the Thai population, PND by DNA analysis could be carried out in more than 95% of the risk couples by using beta(E) and 10 different HRP-labeled ASO probes. | NA | {
"id": 4878,
"name": "NPPA",
"pos": [
108,
3
]
} | {
"id": "C0005283",
"name": "beta Thalassemia",
"pos": [
57,
16
]
} |
They were clinically categorized into 4 groups: hepatocellular carcinoma (HCC), liver cirrhosis (LC), chronic hepatitis (CH), and asymptomatic carriers (ASC). | NA | {
"id": 29108,
"name": "PYCARD",
"pos": [
153,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
130,
12
]
} |
These findings support the hypothesis that the GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal. | NA | {
"id": 114787,
"name": "GPRIN1",
"pos": [
47,
5
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
92,
8
]
} |
Further research is necessary to understand how early life stress interacts with 5-HTT genotypes to confer risk for suicidal behavior through psychological mechanisms. | genomic_alterations | {
"id": 6532,
"name": "SLC6A4",
"pos": [
81,
5
]
} | {
"id": "C0038443",
"name": "Stress, Psychological",
"pos": [
54,
11
]
} |
This study aimed to analyze the expression of Notch signaling molecules (Notch2, Jagged1, and Hey1) and proinflammatory cytokines (tumor necrosis factor alpha [TNF-α], interleukin [IL]-1β, and IL-6) in human apical periodontitis lesions with different receptor activator of nuclear factor kappa B ligand (RANKL)/osteoprotegerin (OPG) ratios and determine their potential correlation. | biomarker | {
"id": 182,
"name": "JAG1",
"pos": [
81,
7
]
} | {
"id": "C0031099",
"name": "Periodontitis",
"pos": [
215,
13
]
} |
Using immunohistochemistry, annexin A10 was expressed in 23/53 (43%) BRAF-mutated and 9/22 (41%) BRAF wild-type sporadic tumors. | NA | {
"id": 11199,
"name": "ANXA10",
"pos": [
28,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
112,
8
]
} |
Furthermore, we also observed that hypoxia accelerated RANKL-mediated cell migration, which was inhibited following HIF-1α knockdown and PI3K-Akt inhibition. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
116,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
35,
7
]
} |
Immunotherapy delivered a new therapeutic option to the oncologist: Ipilimumab (anti-CTLA-4), Nivolumab and Pembrolizumab (anti-PD1), and Atezolizumab (anti-PD-L1) increase overall survival and show a better safety profile compared to chemotherapy in patients with metastatic melanoma, lung, renal cancer among others. | biomarker | {
"id": 29126,
"name": "CD274",
"pos": [
157,
5
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
265,
19
]
} |
Factor V Leiden (FVL) and prothrombin gene mutation G20210A (PTM) are the two most common genetic polymorphisms known to predispose carriers to venous thromboembolism (VTE). | genomic_alterations | {
"id": 2153,
"name": "F5",
"pos": [
0,
15
]
} | {
"id": "C1260403",
"name": "prothrombin gene mutation",
"pos": [
26,
25
]
} |
Formononetin improved hepatic steatosis via TFEB-mediated lysosome biogenesis, which provides new evidence regarding formononetin's anti-NAFLD effects. | biomarker | {
"id": 7942,
"name": "TFEB",
"pos": [
44,
4
]
} | {
"id": "C0015695",
"name": "Fatty Liver",
"pos": [
22,
17
]
} |
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