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|---|---|---|---|
In the spinal cords of sporadic ALS patients, CHOP was markedly up-regulated but typically expressed at low levels in those of the control. | NA | {
"id": 1649,
"name": "DDIT3",
"pos": [
46,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
23,
8
]
} |
In summary, these findings expand current views on the initiation of psoriasis and related arthritis by revealing the keratinocyte-intrinsic role of TTP. | biomarker | {
"id": 23677,
"name": "SH3BP4",
"pos": [
149,
3
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
91,
9
]
} |
We report three consanguineous families in which four affected individuals with BFPP and GPR56 mutations had Lennox-Gastaut syndrome. | genomic_alterations | {
"id": 9289,
"name": "ADGRG1",
"pos": [
89,
5
]
} | {
"id": "C0238111",
"name": "Lennox-Gastaut syndrome",
"pos": [
109,
23
]
} |
This hypertrophy was associated with an increase in phosphorylated GSK-3beta (+17%; P<0.05) and in beta-catenin content (+35%; P<0.05). | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
99,
12
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
5,
11
]
} |
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by skeletal abnormalities such as hypoplasia of the mandible and clavicles and acro-osteolysis. | NA | {
"id": 270,
"name": "AMPD1",
"pos": [
26,
3
]
} | {
"id": "C0917990",
"name": "Acro-Osteolysis",
"pos": [
163,
15
]
} |
The most frequent venous thrombotic manifestation was deep vein thrombosis with or without pulmonary embolism (90% in antithrombin, 88% in protein C, 100% in protein S deficiency, and 57% in factor V Leiden), but a relatively mild manifestation such as superficial vein thrombosis was common in factor V Leiden (43%). | NA | {
"id": 5624,
"name": "PROC",
"pos": [
139,
9
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
226,
4
]
} |
In 1 case, CUX1 was disrupted by a translocation, resulting in a loss-of-function RNA fusion transcript. | NA | {
"id": 1523,
"name": "CUX1",
"pos": [
11,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
35,
13
]
} |
Pro and anti-inflammatory cytokines (tumor necrosis factor alpha, TNFA and interleukin, IL-10) are involved in fighting against the tumorigenesis. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
66,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
132,
13
]
} |
Asymptomatic LRRK2 G2019S mutation carriers show a reorganization of corticostriatal circuits that mirrors findings in idiopathic PD. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
13,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
130,
2
]
} |
In order to elucidate the possible role of the Pro121Leu exchange in uPA and the Ala/Thr variants in the signal sequence of PAI-1 in the development and/or progression of human ovarian cancer, we studied the presence of these mutants or variants in a series of 22 ovarian cancer tissues. | genomic_alterations | {
"id": 5328,
"name": "PLAU",
"pos": [
69,
3
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
177,
14
]
} |
Together these data indicate that the t(9;14)(p13;q32) translocation contributes to lymphoma formation as a regulatory mutation that leads to increased PAX-5 expression in late B-cell differentiation due to promoter replacement or enhancer insertion. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
46,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
84,
8
]
} |
We elucidated the mechanism by which netrin-1 released under hypoxic stress can induce epithelial-mesenchymal transition (EMT) to promote invasion in hepatocellular carcinoma (HCC) cells. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
122,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
150,
24
]
} |
Estrogen receptor alpha variant ERalpha46 mediates growth inhibition and apoptosis of human HT-29 colon adenocarcinoma cells in the presence of 17beta-oestradiol. | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
0,
23
]
} | {
"id": "C0338106",
"name": "Adenocarcinoma of colon",
"pos": [
98,
20
]
} |
In tumor cells, Bnip3L played a role in tumor growth inhibition, but some studies argued hypoxia-induced autophagy via Bnip3L was a survival mechanism that promoted tumor progression. | NA | {
"id": 665,
"name": "BNIP3L",
"pos": [
119,
6
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
165,
17
]
} |
These experiments of nature suggest that the TLR7-, TLR8-, and TLR9-dependent induction of IFN-alpha, IFN-beta, and IFN-lambda is largely redundant in human antiviral immunity, whereas the TLR3-dependent induction of IFN-alpha, IFN-beta, and IFN-lambda is critical for primary immunity to HSV-1 in the central nervous system in children but redundant for immunity to most other viral infections. | biomarker | {
"id": 54106,
"name": "TLR9",
"pos": [
63,
4
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
378,
16
]
} |
These data indicate that dasatinib sensitizes mesothelioma cells to PEM through TS down-regulation. | biomarker | {
"id": 7298,
"name": "TYMS",
"pos": [
80,
2
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
46,
12
]
} |
Primary end points were flow-mediated dilation and high-sensitivity C-reactive protein (hs-CRP) levels; secondary end points were lipid and glucose parameters, homeostasis model assessment (HOMA) of insulin sensitivity, endothelial function score, and circulating levels of interleukin (IL)-6, IL-18, and adiponectin. | NA | {
"id": 3606,
"name": "IL18",
"pos": [
294,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
199,
19
]
} |
In the present study, we injected STZ-diabetic rats with an adenovirus expressing PEDF (Ad-PEDF) to evaluate its effects in diabetes. | NA | {
"id": 6484,
"name": "ST3GAL4",
"pos": [
34,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
60,
10
]
} |
MDA-MET cells show increased early adhesion to type IV collagen and are significantly more invasive through Matrigel than MDA-231 cells. | NA | {
"id": 4233,
"name": "MET",
"pos": [
4,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
35,
8
]
} |
The gene expression of S100A7 was 11.3-fold and that of DEFA 1/3 was 14-fold higher in irritation fibromas than in healthy gingiva, whereas the expression of MMP-3 and of inflammation markers IL-1β, IL-6, IL-8, tumor necrosis factor α, and Cox-2 was reduced. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
199,
4
]
} | {
"id": "C0016045",
"name": "fibroma",
"pos": [
98,
8
]
} |
This is the first reported case of ambiguous genitalia and psychomotor delay associated with this novel missense mutation within the ARX protein, and it highlights the value of exome sequencing even in sporadic cases. | NA | {
"id": 170302,
"name": "ARX",
"pos": [
133,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
202,
8
]
} |
We assessed the incidence and clinical significance of the MALT lymphoma-associated genetic abnormalities t(11;18)/API2-MALT1, t(1;14)/BCL10-IGH, t(14;18)/IGH-MALT1, t(3;14)/FOXP1-IGH, and extra copies of MALT1 and FOXP1 in gastric MALT lymphomas from Japan. | NA | {
"id": 27086,
"name": "FOXP1",
"pos": [
215,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
92,
13
]
} |
Safingol, a L-threo-dihydrosphingosine, induced the nuclear translocation of a mitochondrial apoptogenic mediator--endonuclease G (endo G)--and apoptosis of human oral squamous cell carcinoma (SCC) cells. | NA | {
"id": 2021,
"name": "ENDOG",
"pos": [
115,
14
]
} | {
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
168,
23
]
} |
In this study patients with OAT had an increased rate of sperm aneuploidy and diploidy. | NA | {
"id": 4942,
"name": "OAT",
"pos": [
28,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
63,
10
]
} |
In addition, we have got an unexpected result: there was revealed site-specific hydrolysis of four known SCZ specific microRNAs (miR-137, miR-9-5p, miR-219-2-3p, and miR-219a-5p) playing an important role in the regulation of several genes functioning. | genomic_alterations | {
"id": 406928,
"name": "MIR137",
"pos": [
129,
7
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
105,
3
]
} |
We show that Fat1 knockout mice and zebrafish embryos homozygous for truncating fat1a mutations exhibit completely penetrant coloboma, recapitulating the most consistent developmental defect observed in affected individuals. | genomic_alterations | {
"id": 2195,
"name": "FAT1",
"pos": [
13,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
170,
20
]
} |
We report a black female who carried a de novo chromosomal translocation and 3.13 Mb deletion at 3q23, 1.2 Mb 5' to FOXL2. | NA | {
"id": 668,
"name": "FOXL2",
"pos": [
116,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
47,
25
]
} |
Significantly, PKR expression was elevated in ductal, lobular and squamous cell carcinomas or lymph node metastases but not in either benign tumor specimens or cases of inflammation compared to normal tissues. | NA | {
"id": 5610,
"name": "EIF2AK2",
"pos": [
15,
3
]
} | {
"id": "C0086692",
"name": "Benign Neoplasm",
"pos": [
134,
12
]
} |
Polymorphisms of the angiotensinogen gene, the endothelial nitric oxide synthase gene, and the interleukin-1beta gene promoter in women with idiopathic recurrent miscarriage. | NA | {
"id": 183,
"name": "AGT",
"pos": [
21,
20
]
} | {
"id": "C0000809",
"name": "Abortion, Habitual",
"pos": [
152,
21
]
} |
To clarify the role of the MEN1 gene in the tumorigenesis of sporadic adrenocortical tumors, we performed a molecular study on 35 adrenocortical lesions including 6 hyperplasias, 19 adenomas and 10 carcinomas. | NA | {
"id": 4221,
"name": "MEN1",
"pos": [
27,
9
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
44,
13
]
} |
The inhibition of metastatic progression of Somatostatin receptor type 2 (SSTR2) gene transfection mediated by adenovirus in human pancreatic carcinoma cells and the mechanisms involved in this effect were studied. | NA | {
"id": 6752,
"name": "SSTR2",
"pos": [
74,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
111,
10
]
} |
Frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant condition clinically characterized by behavioral, cognitive and motor disturbances. | genomic_alterations | {
"id": 4137,
"name": "MAPT",
"pos": [
66,
7
]
} | {
"id": "C2220255",
"name": "Motor disturbances",
"pos": [
164,
18
]
} |
Osteoglycin prevents cardiac dilatation and dysfunction after myocardial infarction through infarct collagen strengthening. | NA | {
"id": 4969,
"name": "OGN",
"pos": [
0,
11
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
92,
7
]
} |
Mutations in genes of the DNA mismatch repair system (MMR) are linked to hereditary non-polyposis colorectal cancer and also play a role in sporadic cancer. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
54,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
140,
8
]
} |
The aim of this study was to ascertain whether Gaucher patients with parkinsonism carry the osteopontin single-nucleotide polymorphism-66 polymorphic genotype TT to a greater extent than other Gaucher patients. | genomic_alterations | {
"id": 6696,
"name": "SPP1",
"pos": [
92,
11
]
} | {
"id": "C0242422",
"name": "Parkinsonian Disorders",
"pos": [
69,
12
]
} |
Pyk2/related adhesion focal tyrosine kinase (RAFTK) tyrosine kinase is an upstream regulator of Src family kinases in the central nervous system that is involved in alpha-synuclein phosphorylation. | NA | {
"id": 2185,
"name": "PTK2B",
"pos": [
45,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
13,
8
]
} |
RNA was extracted from 13 thyroid carcinoma cell lines and RT-PCR analysis with gene-specific primers revealed fibrillin-1 mRNA expression in all cell lines, with highest expression in the follicular carcinoma cell line WRO and lowest expression in the two anaplastic cell lines (APO, FRO). | NA | {
"id": 84909,
"name": "AOPEP",
"pos": [
280,
3
]
} | {
"id": "C0549473",
"name": "Thyroid carcinoma",
"pos": [
26,
17
]
} |
This study shows no proatherogenic effects of adenovirus-mediated gene transfers of VEGF-A, -B, -C, or -D in the LDLR/apoB48-deficient hypercholesterolemic mice, in which lipoprotein profile and atherosclerosis closely resemble those in human disease. | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
84,
6
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
46,
10
]
} |
The aim of the present study was to elucidate whether the common variants in E-selectin gene (SELE) were associated with the development of GD. | genomic_alterations | {
"id": 6401,
"name": "SELE",
"pos": [
77,
10
]
} | {
"id": "C0018213",
"name": "Graves Disease",
"pos": [
140,
2
]
} |
DRB1*04 alleles may partially account for the genetic predisposition to schizophrenia. | genomic_alterations | {
"id": 3123,
"name": "HLA-DRB1",
"pos": [
0,
4
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
72,
13
]
} |
Higher risk of matrix metalloproteinase (MMP-2, 7, 9) and tissue inhibitor of metalloproteinase (TIMP-2) genetic variants to gallbladder cancer. | genomic_alterations | {
"id": 7077,
"name": "TIMP2",
"pos": [
97,
6
]
} | {
"id": "C4525297",
"name": "Stage 0 Gallbladder Cancer AJCC v8",
"pos": [
125,
18
]
} |
Oroxin B Induces Apoptosis by Down-Regulating MicroRNA-221 Resulting in the Inactivation of the PTEN/PI3K/AKT Pathway in Liver Cancer. | biomarker | {
"id": 207,
"name": "AKT1",
"pos": [
106,
3
]
} | {
"id": "C0345904",
"name": "Malignant neoplasm of liver",
"pos": [
121,
12
]
} |
The biallelic pathogenic variants of TBCD gene were reported to be associated with severe degenerative encephalopathy accompanied with seizures previously. | genomic_alterations | {
"id": 6904,
"name": "TBCD",
"pos": [
37,
4
]
} | {
"id": "C0085584",
"name": "Encephalopathies",
"pos": [
103,
14
]
} |
IL-17A serum concentrations were 5767 ± 2700 pg/ml (mean ± SEM) in sALS patients and 937 ± 927 pg/ml in fALS patients in comparison to 7 ± 2 pg/ml in control subjects without autoimmune disorders (p = 0.008 ALS patients vs. control subjects by Mann-Whitney test). | biomarker | {
"id": 3605,
"name": "IL17A",
"pos": [
0,
6
]
} | {
"id": "C1862939",
"name": "AMYOTROPHIC LATERAL SCLEROSIS 1",
"pos": [
104,
4
]
} |
Thus, miR-3173 may represent a potential therapeutic molecule for B-ALL intervention. | biomarker | {
"id": 100422981,
"name": "MIR3173",
"pos": [
6,
8
]
} | {
"id": "C4721444",
"name": "Burkitt Leukemia",
"pos": [
66,
5
]
} |
We have studied the expression of G protein subtypes and the role of G protein-dependent signaling in two subclones of RED-1 cells, an erythropoetin(Epo)-sensitive, murine erythroleukemia cell line. | NA | {
"id": 8444,
"name": "DYRK3",
"pos": [
119,
3
]
} | {
"id": "C0023440",
"name": "Acute Erythroblastic Leukemia",
"pos": [
172,
15
]
} |
Despite possessing 76% amino acid identity and 86% sequence homology, we found that mouse β2-GPI differs from the human protein in size, carbohydrate chain location, heterogeneity and secondary structural content. | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
93,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
184,
9
]
} |
Pathological improvement of IgA nephropathy and Henoch-Schönlein purpura nephritis with urokinase therapy. | therapeutic | {
"id": 5328,
"name": "PLAU",
"pos": [
93,
9
]
} | {
"id": "C0242461",
"name": "Purpura, Nonthrombocytopenic",
"pos": [
70,
7
]
} |
The removal of the cationic side chain at the first position shown above in the Type I PGDH from Mycobacterium tuberculosis converts it to an enzyme capable of using αKG where the native enzyme is not. | biomarker | {
"id": 26227,
"name": "PHGDH",
"pos": [
87,
4
]
} | {
"id": "C0041296",
"name": "Tuberculosis",
"pos": [
111,
12
]
} |
We aimed to investigate the association of genetic variants 3'UTR rs17468190 (G/T) of the inflammation-associated gene MEP1A (GenBank ID: NM_005588.2) with metabolic disturbances in PCOS and healthy control women. | NA | {
"id": 4224,
"name": "MEP1A",
"pos": [
119,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
90,
12
]
} |
The RICTOR gene (rapamycin-insensitive companion of mTOR [mammalian target of rapamycin]), which encodes a key structural (scaffold) protein of mTOR complex 2), has recently been identified as one of the most frequently amplified genes and a potential therapeutic target in SCLC. | biomarker | {
"id": 2475,
"name": "MTOR",
"pos": [
58,
29
]
} | {
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
274,
4
]
} |
Ultrastructural and histological analysis revealed striking mitochondrial abnormalities at E11.5 and precipitous cardiomyocyte death between E12.0 and E12.5, followed by degenerative changes in the liver and massive necrosis of other tissues. | NA | {
"id": 64100,
"name": "ELSPBP1",
"pos": [
151,
3
]
} | {
"id": "C4020732",
"name": "Mitochondrial abnormalities",
"pos": [
60,
27
]
} |
The prosurvival kinase AKT phosphorylates CDCA7 at threonine 163, promoting binding to 14-3-3, dissociation from MYC, and sequestration to the cytoplasm. | NA | {
"id": 10971,
"name": "YWHAQ",
"pos": [
87,
6
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
95,
12
]
} |
in three human thyroid cancer cell lines: ARO (anaplastic carcinoma), NPA (papillary carcinoma) and MRO (follicular carcinoma). | NA | {
"id": 1588,
"name": "CYP19A1",
"pos": [
42,
3
]
} | {
"id": "C0206682",
"name": "Follicular thyroid carcinoma",
"pos": [
105,
20
]
} |
Anti-SRP was found in 1.2% of patients, associated with polymyositis, and anti-Mi-2 in 4.9%, found exclusively in patients with dermatomyositis. | NA | {
"id": 90226,
"name": "UCN2",
"pos": [
5,
3
]
} | {
"id": "C0085655",
"name": "Polymyositis",
"pos": [
56,
12
]
} |
IFN-α-treated patients with high depression/fatigue scores demonstrated up-regulation of genes bearing promoter motifs for transcription factors involved in myeloid differentiation, IFN-α and AP1 signaling, and reduced prevalence of motifs for CREB/ATF, which has been implicated in major depression. | NA | {
"id": 3725,
"name": "JUN",
"pos": [
192,
3
]
} | {
"id": "C0015672",
"name": "Fatigue",
"pos": [
44,
7
]
} |
We assessed the expression of the circadian genes ARNLT, ARNLT2, CLOCK, PER1, PER2, PER3, CRY1, CRY2 and the starvation-activated histone/protein deacetylase SIRT1 in 34 matched tumor and non-tumor tissue specimens of PC patients, and evaluated in PC derived cell lines if the modulation of SIRT1 expression through starvation could influence the temporal pattern of expression of the circadian genes. | NA | {
"id": 9575,
"name": "CLOCK",
"pos": [
65,
5
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
316,
10
]
} |
There were no significant associations between PON1 Q192R genotypes and smoking by genotype interactions and obesity or overweight, while body mass index significantly increased MetS risk. | NA | {
"id": 5444,
"name": "PON1",
"pos": [
47,
4
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
120,
10
]
} |
Th1 and th2 cytokine expression in nasopharyngeal secretions during acute bronchiolitis in children younger than two years old. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
0,
3
]
} | {
"id": "C0001311",
"name": "Acute bronchiolitis",
"pos": [
68,
19
]
} |
The Philadelphia (Ph1) chromosome, or its molecular counterpart, the BCR-ABL fusion gene, is a rare but important prognostic indicator in childhood acute lymphoblastic leukemia (ALL), but its impact on adult ALL has not been well ascertained. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
18,
3
]
} | {
"id": "C0023452",
"name": "Childhood Acute Lymphoblastic Leukemia",
"pos": [
138,
38
]
} |
Ten genes (LPA, NOX3, SNX9, VIL2, VIP, ADAM8, DOCK1, FANK1, GPR123 and PTPRE) were selected for a subsequent association study performed in a large SLSJ sample (n = 1167) of individuals tested for asthma and atopy related phenotypes. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
34,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
208,
5
]
} |
The aryl hydrocarbon receptor constitutively represses c-myc transcription in human mammary tumor cells. | NA | {
"id": 196,
"name": "AHR",
"pos": [
4,
25
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
84,
13
]
} |
A nationwide survey was performed to collect data from gefitinib and erlotinib treatment outcomes of patients with stage IIIB/IV lung adenocarcinoma bearing EGFR G719X/L861Q/S768I mutations. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
157,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
129,
19
]
} |
We hypothesized that PTPN11 mutations induce hypersensitivity of hematopoietic progenitors to GM-CSF and confer increased GM-CSF-stimulated phospho-extracellular signal-regulated kinase (Erk) levels. | NA | {
"id": 1437,
"name": "CSF2",
"pos": [
122,
6
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
45,
16
]
} |
Here, we found that reduction of [Cl(-)](i) increased tumor necrosis factor-α (TNFα)-induced expression of intercellular adhesion molecule 1 and vascular cell adhesion molecule 1 and adhesion of monocytes to endothelial cells (P<0.05; n=6). | NA | {
"id": 3383,
"name": "ICAM1",
"pos": [
107,
33
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
183,
8
]
} |
Follow-on pathological and functional assessment confirmed cyclin D1 and SPP1 as key mediators of these biological processes, which together with PTEN and SMAD4, form a four-gene signature that is prognostic of prostate-specific antigen (PSA) biochemical recurrence and lethal metastasis in human PCA. | biomarker | {
"id": 595,
"name": "CCND1",
"pos": [
59,
9
]
} | {
"id": "C0268398",
"name": "Familial lichen amyloidosis",
"pos": [
297,
3
]
} |
To explore the biological function and molecular mechanism of membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1) in hepatocellular carcinoma. | NA | {
"id": 5174,
"name": "PDZK1",
"pos": [
107,
23
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
142,
24
]
} |
Deletion of the VFEEE sequence from the Cad11 cytoplasmic domain (Cad11-cla-Δ5) leads to inhibition of Cad11 internalization and reduces Cad11-mediated cell migration in C4-2B and PC3-mm2 prostate cancer cells. | NA | {
"id": 10687,
"name": "PNMA2",
"pos": [
184,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
188,
15
]
} |
APR-246 has been tested as monotherapy in a Phase I/IIa clinical study in hematological malignancies and prostate cancer with promising results, and a Phase Ib/II study in combination with platinum-based therapy in ovarian cancer is ongoing. | biomarker | {
"id": 5366,
"name": "PMAIP1",
"pos": [
0,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
105,
15
]
} |
Androgen receptor gene mutations in prostate cancer are very rare and are reported only in exons 4-8. | genomic_alterations | {
"id": 367,
"name": "AR",
"pos": [
0,
17
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
36,
15
]
} |
This COMT variant might increase the vulnerability to panic disorder by modulating dopaminergic tonus in relevant brain regions and thus altering neuronal processing of anxiety-related emotional cues. | genomic_alterations | {
"id": 1312,
"name": "COMT",
"pos": [
5,
4
]
} | {
"id": "C0030319",
"name": "Panic Disorder",
"pos": [
54,
14
]
} |
In the course of recruiting families with 2 schizophrenic siblings for genome screening and linkage studies, a family was found with mental retardation, schizophrenia, and/or other related psychotic illnesses in individuals who also had an unbalanced or balanced translocation between chromosomes 21-18 [t(18;21)(p11.1;p11.1)]. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
319,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
263,
13
]
} |
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. | NA | {
"id": 9254,
"name": "CACNA2D2",
"pos": [
62,
8
]
} | {
"id": "C0085584",
"name": "Encephalopathies",
"pos": [
26,
14
]
} |
The LPL gene S447X mutation and H-X haplotype were significantly associated with dyslipidemia (OR=0.547, 95%CI: 0.348-0.859 for S447X mutation; OR=0.537, 95%CI: 0.328-0.880 for H-X haplotype) in male, both by themselves and after adjustment for age, body mass index, smoking, alcohol intake, systolic blood pressure, diastolic blood pressure, education and serum glucose. | NA | {
"id": 4023,
"name": "LPL",
"pos": [
4,
8
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
292,
23
]
} |
Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
283,
3
]
} | {
"id": "C0017566",
"name": "Gingival Hyperplasia",
"pos": [
192,
20
]
} |
Together, these findings demonstrate specific and differential regulation of Nedd4 family E3 ligases under ischemic conditions, and identify two E3 ligases and their adaptor that potentially regulate ubiquitination in ischemic stroke to provide neuroprotection. | NA | {
"id": 4734,
"name": "NEDD4",
"pos": [
77,
5
]
} | {
"id": "C0948008",
"name": "Ischemic stroke",
"pos": [
218,
15
]
} |
We performed repeated-measures analysis of variance (ANOVA) and one-way ANOVA for the glucose and insulin levels during OGTTs in four groups divided by the GIPR gene polymorphism and cohort (schizophrenia or control). | NA | {
"id": 4858,
"name": "NOVA2",
"pos": [
53,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
191,
13
]
} |
We found that LRIG1 overexpression is able to inhibit hypoxia-induced VM formation, migration, invasion, and proliferation. | NA | {
"id": 26018,
"name": "LRIG1",
"pos": [
14,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
54,
7
]
} |
Together, these data suggest that HO-1 is an important upstream mediator in the hypoxia-induced 15-LO up-regulation during HPH. | NA | {
"id": 3162,
"name": "HMOX1",
"pos": [
34,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
80,
7
]
} |
After transplantation without DST, recurrence of proteinuria in LEW.1W kidneys appeared at approximately 10 days, possibly associated with rejection of the graft. | NA | {
"id": 667,
"name": "DST",
"pos": [
30,
3
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
49,
11
]
} |
We have studied a family with repeated transmission of mosaicism for a supernumerary marker chromosome (SMC), giving rise to varying symptoms of the cat eye syndrome (CES) in the offspring. | NA | {
"id": 54808,
"name": "DYM",
"pos": [
104,
3
]
} | {
"id": "C0265493",
"name": "Cat eye syndrome",
"pos": [
149,
16
]
} |
These findings point to a role for BDNF polymorphisms in Chinese Han children with asthma and may inform future genetic or biological studies on childhood asthma. | genomic_alterations | {
"id": 627,
"name": "BDNF",
"pos": [
35,
4
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
83,
6
]
} |
This study confirms a role for type-1 IFN signalling in the neuro-inflammatory response following OGD in vitro and suggests its modulation through therapeutic blockade of IFNAR1 may be beneficial in reducing hypoxia-induced neuro-inflammation. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
38,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
208,
7
]
} |
Cleidocranial dysplasia (CCD, MIM #119600) is an autosomal-dominant disorder characterized by hypoplasia or aplasia of clavicles, patent fontanelles and short stature. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
30,
3
]
} | {
"id": "C0000846",
"name": "Agenesis",
"pos": [
108,
7
]
} |
PARP inhibitors are considered promising anticancer agents and currently being tested in clinical trials in hereditary breast cancer patients harboring mutations in BRCA1 and BRCA2 genes. | genomic_alterations | {
"id": 1302,
"name": "COL11A2",
"pos": [
0,
4
]
} | {
"id": "C0346153",
"name": "Breast Cancer, Familial",
"pos": [
108,
24
]
} |
The human FOXJ1 gene which maps to chromosome 17q, is thus an excellent candidate gene for Kartagener Syndrome (KS), a subphenotype of Primary Ciliary Dyskinesia (PCD), characterized by bronchiectasis, chronic sinusitis and situs inversus. | NA | {
"id": 2302,
"name": "FOXJ1",
"pos": [
10,
10
]
} | {
"id": "C0149516",
"name": "Chronic sinusitis",
"pos": [
202,
17
]
} |
Except for the marginal association of PPARγ Pro12Ala variation with a lower conditional weight at 6 months, (P = 0.020) and APOA5 S19W with a higher conditional BMI at 11 yrs of age (P = 0.030), none of the other associations between the gene polymorphisms and serial changes in body mass index from birth to young adulthood were significant. | NA | {
"id": 5468,
"name": "PPARG",
"pos": [
39,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
89,
6
]
} |
The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. | NA | {
"id": 5373,
"name": "PMM2",
"pos": [
134,
4
]
} | {
"id": "C0033680",
"name": "Protein-Losing Enteropathies",
"pos": [
43,
26
]
} |
In univariate analysis, BRCA1 tumors had significantly more frequently high cyclin E (88%) and low cyclin D1 (84%) expression than sporadic (54% and 49%, respectively) or familial non-BRCA1/2 (38% and 45%, respectively) tumors. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
184,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
131,
8
]
} |
The effect of IL-11 was studied in an experimental model of necrotizing glomerulonephritis induced in Wistar Kyoto rats by an injection of anti-glomerular basement membrane antibody (nephrotoxic serum). | NA | {
"id": 3589,
"name": "IL11",
"pos": [
14,
5
]
} | {
"id": "C0017658",
"name": "Glomerulonephritis",
"pos": [
72,
18
]
} |
Deterioration was attributed to SICH when associated with a PH1 or PH2 hemorrhage on postdeterioration computed tomography scans, to recurrent ischemic stroke when there was clinical and radiologic evidence of a new territorial infarction or new vessel occlusion, and otherwise to evolution of the incident stroke. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
60,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
228,
10
]
} |
Primary ocular melanocytes and ocular melanoma cell lines (retaining this IFN-gamma-resistant class II MHC phenotype) were examined for the expression of class II MHC molecules on the cell surface by flow cytometry. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
74,
3
]
} | {
"id": "C0558356",
"name": "Malignant melanoma of eye",
"pos": [
31,
15
]
} |
A global gene expression microarray analysis of surplus chorionic villus sampling (CVS) tissues identified leukocyte-associated immunoglobulin-like receptor 2 (LAIR2) as down-regulated in the first trimester of pregnancies destined for preeclampsia. | NA | {
"id": 3904,
"name": "LAIR2",
"pos": [
160,
5
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
236,
12
]
} |
Upon DWYG treatment, the serum levels of ALT and AST, hepatic hydroxyproline content and the degree of fibrosis in CCl4-induced fibrotic model rats were dramatically declined. | NA | {
"id": 2805,
"name": "GOT1",
"pos": [
49,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
103,
8
]
} |
To study the variation and significance of plasma coagulation factor VII (FVII) in different kinds of ischemia heart disease (IHD) and examine its relation with plasma lipid and gene polymorphism. | NA | {
"id": 2155,
"name": "F7",
"pos": [
62,
10
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
102,
8
]
} |
The VEGF-2578C/A polymorphism was shown to be inconsistent with the onset and aggressiveness of NPC. | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
4,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
78,
14
]
} |
Our goal was to elucidate somatic mutations in Chinese HCC patients and investigate the possible molecular mechanisms involved in tumorigenesis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
55,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
130,
13
]
} |
A polymorphism in the 5'UTR promoter region of CYP17A1-34T/C(A1/A2) has been associated with circulating estrogens in premenopausal women and with susceptibility to breast, prostate, and endometrial cancer. | genomic_alterations | {
"id": 1586,
"name": "CYP17A1",
"pos": [
47,
7
]
} | {
"id": "C0007103",
"name": "Malignant neoplasm of endometrium",
"pos": [
187,
18
]
} |
TRPV1 and TRPA1 channels transduce pain and itch, whereas TRPM8 transduces cold. | NA | {
"id": 8989,
"name": "TRPA1",
"pos": [
10,
5
]
} | {
"id": "C0033774",
"name": "Pruritus",
"pos": [
44,
4
]
} |
To study the possible involvement of the rod (SLC24A1) and cone (SLC24A2) Na-Ca+K exchanger (NCKX) genes in retinal diseases. | NA | {
"id": 25769,
"name": "SLC24A2",
"pos": [
65,
7
]
} | {
"id": "C0035309",
"name": "Retinal Diseases",
"pos": [
108,
16
]
} |
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