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dict |
|---|---|---|---|
Increased numbers of coassembled PSD-95 to NMDA-receptor subunits NR2B and NR1 in human epileptic cortical dysplasia.
|
NA
|
{
"id": 2902,
"name": "GRIN1",
"pos": [
75,
3
]
}
|
{
"id": "C0431380",
"name": "Cortical Dysplasia",
"pos": [
98,
18
]
}
|
This is the second reported family with isolated proteinuria due to biallelic CUBN variants in the absence of megaloblastic anaemia, demonstrating the ability of genomic testing to identify genetic causes of nephropathy within expanding associated phenotypic spectra.
|
genomic_alterations
|
{
"id": 8029,
"name": "CUBN",
"pos": [
78,
4
]
}
|
{
"id": "C0022658",
"name": "Kidney Diseases",
"pos": [
208,
11
]
}
|
We developed a new mouse model of mesothelioma by bladder or intraperitoneal injection of adenovirus Cre into mice with conditional alleles of each of Tp53 and Tsc1.
|
NA
|
{
"id": 7248,
"name": "TSC1",
"pos": [
160,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
90,
10
]
}
|
RUNX3 attenuates beta-catenin/T cell factors in intestinal tumorigenesis.
|
NA
|
{
"id": 864,
"name": "RUNX3",
"pos": [
0,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
59,
13
]
}
|
Polymorphisms in the human apolipoprotein E receptor 2 gene in Japanese sporadic Alzheimer's disease patients.
|
NA
|
{
"id": 7804,
"name": "LRP8",
"pos": [
27,
27
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
72,
8
]
}
|
In vivo, the EGP-2 promoter mediated efficient expression of luciferase in tumors but showed a 3-log lower activity in liver tissue when compared with the cytomegalovirus (CMV) promoter.
|
NA
|
{
"id": 4072,
"name": "EPCAM",
"pos": [
13,
5
]
}
|
{
"id": "C0010823",
"name": "Cytomegalovirus Infections",
"pos": [
155,
15
]
}
|
In order to unravel whether there is any association between the occurrence of the BRAF mutation and the histological pattern of PTC, in this study a previous series of 50 PTCs was extended to 134 cases, including ten cases of PTC-related entities-hyalinizing trabecular tumour (HTT) and mucoepidermoid carcinoma (MEC).
|
NA
|
{
"id": 3064,
"name": "HTT",
"pos": [
279,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
271,
6
]
}
|
We conclude that CALCA induces in vitro angiogenesis by stimulating endothelial cell proliferation, migration, and capillarylike tube formation; thus, CALCA at the human implantation site may constitute a potential autocrine or paracrine mechanism that could modify placental angiogenesis and neovascularization.
|
NA
|
{
"id": 796,
"name": "CALCA",
"pos": [
151,
5
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
293,
18
]
}
|
Here we identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption.
|
genomic_alterations
|
{
"id": 51128,
"name": "SAR1B",
"pos": [
36,
5
]
}
|
{
"id": "C0024523",
"name": "Malabsorption Syndrome",
"pos": [
97,
13
]
}
|
We estimated the cumulative incidence of metachronous (diagnosed >2months after first primary cancer [FPC]) SPC in gastric FPC patients and compared the incidence of metachronous SPC with that expected in the general population.
|
biomarker
|
{
"id": 5314,
"name": "PKHD1",
"pos": [
105,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
89,
14
]
}
|
Reduction in c-Met expression substantially inhibits both tumor growth and lymph node metastasis of PC3-LN4 cells in orthotopic nude mouse models.
|
NA
|
{
"id": 7832,
"name": "BTG2",
"pos": [
100,
3
]
}
|
{
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
75,
21
]
}
|
People with GCK-MODY have a defect in glucose sensing; hence, glucose homeostasis is maintained at a higher set point resulting in mild, asymptomatic fasting hyperglycemia (5.4-8.3 mmol/L, HbA1c range 5.8-7.6% [40-60 mmol/mol]), which is present from birth and shows slight deterioration with age.
|
NA
|
{
"id": 2645,
"name": "GCK",
"pos": [
12,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
131,
4
]
}
|
The interaction of ADD1 and ADD3 gene variants in humans is statistically associated with variation in blood pressure, suggesting the presence of epistatic effects among these loci.
|
NA
|
{
"id": 118,
"name": "ADD1",
"pos": [
19,
4
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
103,
14
]
}
|
Recently, the human PDE6H gene was identified as a novel locus for autosomal recessive (incomplete) color blindness.
|
genomic_alterations
|
{
"id": 5149,
"name": "PDE6H",
"pos": [
20,
5
]
}
|
{
"id": "C0858618",
"name": "Dyschromatopsia",
"pos": [
100,
15
]
}
|
These findings provide a new method for identifying novel CTAs as well as mechanistic insights into how BAP31 regulates cervical cancer hyper-proliferation and metastasis.
|
biomarker
|
{
"id": 10134,
"name": "BCAP31",
"pos": [
104,
5
]
}
|
{
"id": "C4048328",
"name": "cervical cancer",
"pos": [
120,
15
]
}
|
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.
|
NA
|
{
"id": 2997,
"name": "GYS1",
"pos": [
38,
4
]
}
|
{
"id": "C0085298",
"name": "Sudden Cardiac Death",
"pos": [
92,
20
]
}
|
Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease.
|
genomic_alterations
|
{
"id": 2312,
"name": "FLG",
"pos": [
34,
9
]
}
|
{
"id": "C0002170",
"name": "Alopecia",
"pos": [
53,
15
]
}
|
OBJECTIVE: To study the significance of c-myc, p53 and p16 protein expression in fibrous dysplasia, to detect the GNAS1 gene mutation in fibrous dysplasia, and to explore the property of fibrous dysplasia.
|
NA
|
{
"id": 4609,
"name": "MYC",
"pos": [
40,
5
]
}
|
{
"id": "C0259779",
"name": "Fibrous Dysplasia",
"pos": [
187,
17
]
}
|
This differential pattern in the significance level suggests that other genomic loci or mechanisms may affect the length of aganglionosis in HSCR subgroups during enteric nervous system (ENS) development.
|
NA
|
{
"id": 9053,
"name": "MAP7",
"pos": [
187,
3
]
}
|
{
"id": "C0019569",
"name": "Hirschsprung Disease",
"pos": [
124,
13
]
}
|
To investigate a molecular understanding of how mutations can lead to different phenotypes, we analyzed the relationship between altered secondary structures predicted by missense mutations in the peripherin/RDS and clinical severity of autosomal-dominant retinal degeneration.
|
NA
|
{
"id": 5630,
"name": "PRPH",
"pos": [
197,
10
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
137,
9
]
}
|
T2D variants were associated with PCOS phenotype parameters including those in THADA and WFS1 with testosterone levels, ENPP/PC1 with triglyceride levels, FTO with glucose levels and KCNJ11 with FSH levels.
|
genomic_alterations
|
{
"id": 79068,
"name": "FTO",
"pos": [
155,
3
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
0,
3
]
}
|
These studies extend the spectrum of mutations in PAX9 associated with hypodontia to include heretofore undescribed categories, including missense mutations.
|
genomic_alterations
|
{
"id": 5083,
"name": "PAX9",
"pos": [
50,
4
]
}
|
{
"id": "C0020608",
"name": "Hypodontia",
"pos": [
71,
10
]
}
|
Fusion of the BCL9 HD2 domain to E1A increases the cytopathic effect of an oncolytic adenovirus that targets colon cancer cells.
|
NA
|
{
"id": 607,
"name": "BCL9",
"pos": [
14,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
85,
10
]
}
|
Participants with the GSTM1 null (GSTM1-0) genotype and > or = 20 pack-years of smoking had the highest mean levels of CRP, fibrinogen, von Willebrand factor, ICAM-1, and VCAM-1 and lowest mean levels of albumin compared to other combinations of genotype and smoking.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
119,
3
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
124,
10
]
}
|
The frequency of the homozygous TT genotype in the COL1A1 gene was increased in women with a history of cervical insufficiency compared with controls (10.8% compared with 3.1%, P=.04).
|
NA
|
{
"id": 1277,
"name": "COL1A1",
"pos": [
51,
11
]
}
|
{
"id": "C0007871",
"name": "Uterine Cervical Incompetence",
"pos": [
104,
22
]
}
|
We genotyped six PON3 tagging single nucleotide polymorphisms (tagSNPs) and examined their associations with PON1 activity, SLE risk, antiphopholipid autoantibodies (APA), lupus nephritis, carotid vascular disease, and inflammation.
|
NA
|
{
"id": 2028,
"name": "ENPEP",
"pos": [
166,
3
]
}
|
{
"id": "C0042373",
"name": "Vascular Diseases",
"pos": [
197,
16
]
}
|
A decreased GFR in the range of mild renal insufficiency and an increased urinary albumin excretion (UAE) rate in the range of microalbuminuria are important cardiovascular risk factors.
|
NA
|
{
"id": 9771,
"name": "RAPGEF5",
"pos": [
12,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
32,
4
]
}
|
We studied 176 patients, all enrolled on prospective treatment trials, for secondary chromosomal aberrations and mutations in N-/KRAS, KIT, FLT3, and JAK2 (V617F) genes.
|
NA
|
{
"id": 3717,
"name": "JAK2",
"pos": [
150,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
85,
23
]
}
|
In this review, we will briefly discuss the main PTEN/PI3K/AKT pathway alterations found in NSCLC, as well as the cell processes regulated by PTEN/PI3K/AKT leading to tumorigenesis.
|
NA
|
{
"id": 207,
"name": "AKT1",
"pos": [
152,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
167,
13
]
}
|
Acute P. aeruginosa lung infection in mice induces a reduction of the active form of ADAM10, which determines an increase of FL-RAGE expression on alveolar cells and a concomitant decrease of pulmonary cRAGE levels.
|
biomarker
|
{
"id": 102,
"name": "ADAM10",
"pos": [
85,
6
]
}
|
{
"id": "C0876973",
"name": "Infectious Lung Disorder",
"pos": [
20,
14
]
}
|
There was an increase in cyclooxygenase-2 expression in the thoracic aortae and mesenteric arteries of the fructose-fed sham-operated rats while the expression of cyclooxygenase-1 remained unchanged.
|
NA
|
{
"id": 5742,
"name": "PTGS1",
"pos": [
163,
16
]
}
|
{
"id": "C0729233",
"name": "Dissecting aneurysm of the thoracic aorta",
"pos": [
60,
8
]
}
|
These data suggest, for the first time, that GANP and P-GANP are up-regulated in cultured melanoma cells compared to melanocytes and also they are widely expressed in benign and malignant melanocytic tumor cells.
|
NA
|
{
"id": 8888,
"name": "MCM3AP",
"pos": [
56,
4
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
90,
8
]
}
|
This study documents the associations between the MMPI-2-RF (Ben-Porath & Tellegen, 2008 ) scale scores and the Psychopathy Checklist Revised (PCL-R; Hare, 2003 ) facet scores in a forensic psychiatric sample.
|
genomic_alterations
|
{
"id": 9033,
"name": "PKD2L1",
"pos": [
143,
3
]
}
|
{
"id": "C0003431",
"name": "Antisocial Personality Disorder",
"pos": [
112,
11
]
}
|
Bcl-2 rs956572 polymorphism is associated with increased anterior cingulate cortical glutamate in euthymic bipolar I disorder.
|
genomic_alterations
|
{
"id": 596,
"name": "BCL2",
"pos": [
0,
5
]
}
|
{
"id": "C0853193",
"name": "Bipolar I disorder",
"pos": [
107,
18
]
}
|
A Kaplan-Meier survival analysis found a negative prognostic correlation of miR-21 and metastasis-free survival in colorectal cancer patients (The Cancer Genome Atlas Colon Adenocarcinoma/TCGA-COAD cohort).
|
biomarker
|
{
"id": 406991,
"name": "MIR21",
"pos": [
76,
6
]
}
|
{
"id": "C0338106",
"name": "Adenocarcinoma of colon",
"pos": [
167,
20
]
}
|
Small heterodimer partner overexpression partially protects against liver tumor development in farnesoid X receptor knockout mice.
|
NA
|
{
"id": 8431,
"name": "NR0B2",
"pos": [
0,
25
]
}
|
{
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
68,
11
]
}
|
The HIF-1alpha and HIF-2alpha subunits both undergo rapid hypoxia-induced protein stabilization and bind identical target DNA sequences.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
4,
10
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
58,
7
]
}
|
In the stratified analysis, significant associations were found between the LEPR K109R(rs1137100) genetic polymorphism and breast cancer under additive genetic model (odds ratio/OR=0.67, 95% CI 0.61-0.73).
|
genomic_alterations
|
{
"id": 3953,
"name": "LEPR",
"pos": [
76,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
123,
13
]
}
|
We have recently shown that DPPIV can be downregulated from the cell surface of HT-29 colorectal carcinoma cells by adenosine, which is a metabolite that becomes concentrated in the extracellular fluid of hypoxic solid tumors.
|
NA
|
{
"id": 1803,
"name": "DPP4",
"pos": [
28,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
205,
7
]
}
|
significantly inhibited I/R-induced neutropenia, the elevation of serum levels of AST, intestinal oedema and hypotension.
|
NA
|
{
"id": 2805,
"name": "GOT1",
"pos": [
82,
3
]
}
|
{
"id": "C0027947",
"name": "Neutropenia",
"pos": [
36,
11
]
}
|
Heterozygosity for a 32 base pair deletion in the CCR5 gene (CCR5wt/Δ32) and the minor alleles of a single-nucleotide polymorphism in the HCP5 gene (rs2395029) and in the HLA-C gene region (-35HLA-C; rs9264942) has been associated with a lower viral load set point.
|
NA
|
{
"id": 10866,
"name": "HCP5",
"pos": [
138,
9
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
244,
10
]
}
|
In summary, the PSCA rs2294008 polymorphism may serve as a biomarker of cervical cancer, particularly of early-stage cervical cancer.
|
genomic_alterations
|
{
"id": 8000,
"name": "PSCA",
"pos": [
16,
4
]
}
|
{
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
72,
15
]
}
|
This research led to the identification of neutral endopeptidase, the M-type receptor for secretory phospholipase A(2) (PLA(2)R1) and cationic bovine serum albumin as target antigens of circulating and deposited antibodies in alloimmune neonatal, adult 'idiopathic' and early-childhood membranous nephropathy, respectively.
|
NA
|
{
"id": 4311,
"name": "MME",
"pos": [
43,
21
]
}
|
{
"id": "C0017665",
"name": "Membranous glomerulonephritis",
"pos": [
286,
22
]
}
|
Slow acetylator genotype of N-acetyl transferase2 (NAT2) is associated with increased susceptibility to gallbladder cancer: the cancer risk not modulated by gallstone disease.
|
genomic_alterations
|
{
"id": 10,
"name": "NAT2",
"pos": [
51,
4
]
}
|
{
"id": "C4525305",
"name": "Stage IV Gallbladder Cancer AJCC v8",
"pos": [
104,
18
]
}
|
Signaling via iron-catalyzed protein oxidation mediates hypoxic pulmonary hypertension-induced annexin A1 degradation, Gata4 gene transcription, and right ventricular hypertrophy.
|
NA
|
{
"id": 301,
"name": "ANXA1",
"pos": [
95,
10
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
56,
7
]
}
|
The inwardly rectifying K+ current is suggested to be generated by Kir2.1 protein in the human small-cell lung cancer cell, and that the K+ channel is negatively regulated by protein kinase C and the intracellular acidic pH.
|
NA
|
{
"id": 3759,
"name": "KCNJ2",
"pos": [
67,
6
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
106,
11
]
}
|
Here, we showed that IL-6 induced the translocation of CD45 to lipid rafts in an isoform-dependent manner.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
21,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
38,
13
]
}
|
Kidney and urinary tract malformations were detected in 11 patients with AMT (nine men, two women) and in one control.
|
NA
|
{
"id": 275,
"name": "AMT",
"pos": [
73,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
25,
13
]
}
|
This mechanism may contribute to genomic instability and provide justification for targeting PARP1 and/or RAD52 to induce synthetic lethality in "BRCAness" CML and BCR-ABL1 -positive ALL cells.
|
NA
|
{
"id": 142,
"name": "PARP1",
"pos": [
93,
5
]
}
|
{
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
33,
19
]
}
|
Hereditary non-polyposis colorectal cancer is the most common known genetic syndrome that predisposes to various types of cancer including gastric cancer and occures mainly due to pathogenic germline mutations in DNA mismatch repair (MMR) genes, such as MLH1, MSH2 and MSH6.
|
genomic_alterations
|
{
"id": 4360,
"name": "MRC1",
"pos": [
234,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
122,
6
]
}
|
Involvement of the P2X7 receptor in the migration and metastasis of tamoxifen-resistant breast cancer: effects on small extracellular vesicles production.
|
biomarker
|
{
"id": 5027,
"name": "P2RX7",
"pos": [
19,
13
]
}
|
{
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
88,
13
]
}
|
Methylation scores were in general low as expected of benign tissue, but analysis of outlier methylation scores revealed a significant relationship between breast cancer risk, as indicated by previous biopsy, and methylation score for several CpG sites in CDH1, GSTP1, SFRP1, and RBP1.
|
genomic_alterations
|
{
"id": 2950,
"name": "GSTP1",
"pos": [
262,
5
]
}
|
{
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
156,
13
]
}
|
We evaluated the haplotype distribution at the region showing the strongest association and found five DQB1-DRB1 haplotypes positively associated with MS in Sardinia.
|
genomic_alterations
|
{
"id": 129831,
"name": "RBM45",
"pos": [
108,
4
]
}
|
{
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
151,
2
]
}
|
A total of 75 cytological/histological lung adenocarcinoma sample pairs underwent polymerase chain reaction analysis for the EGFR mutation.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
125,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
39,
19
]
}
|
The aim of this study was to determine whether TNF-α-308 gene polymorphism was associated with smoking-related COPD and whether it was associated with pulmonary function parameters (PFTs), body mass index (BMI), and prognosis.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
47,
5
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
189,
15
]
}
|
Tuberous sclerosis complex (TSC), a heterodimer of TSC1 and TSC2, functions as a negative regulator of mTOR signaling.
|
genomic_alterations
|
{
"id": 7248,
"name": "TSC1",
"pos": [
51,
4
]
}
|
{
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
0,
26
]
}
|
Despite its known profound effects on HDL and triglyceride metabolism, the role of LCAT in metabolic disorders, including obesity and diabetes, has not received much attention.
|
NA
|
{
"id": 3931,
"name": "LCAT",
"pos": [
83,
4
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
134,
8
]
}
|
Together with molecular modeling, our results establish a distinct role for IFIH1 in apoptosis, inflammation, and autoantibody production, and explain the molecular basis of these three risk alleles for SLE pathogenesis.
|
NA
|
{
"id": 64135,
"name": "IFIH1",
"pos": [
76,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
96,
12
]
}
|
The tumor was found to harbor both EGFR L858R and ERBB2 S310F alterations and also tested positive for a known TP53 germline mutation.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
35,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
4,
5
]
}
|
Relationship between production of epidermal growth factor receptors, gene amplification, and chromosome 7 translocation in variant A431 cells.
|
NA
|
{
"id": 1950,
"name": "EGF",
"pos": [
35,
23
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
107,
13
]
}
|
Our data suggest that a mild islet insult in the presence of HLA-DQ8 bearing antigen-presenting cells promotes infiltration of GAD peptide reactive T cells into the islet.
|
NA
|
{
"id": 2571,
"name": "GAD1",
"pos": [
127,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
24,
4
]
}
|
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
|
genomic_alterations
|
{
"id": 3239,
"name": "HOXD13",
"pos": [
41,
6
]
}
|
{
"id": "C0221357",
"name": "Brachydactyly",
"pos": [
68,
13
]
}
|
Contrasting with this protective role, however, Nrf2 function may be potentially fatal in smoking-related lung tumorigenesis: as concluded from recent clinical investigations, lung tumor tissues harbor increased mutation or, alternatively, aberrant expression rates in either the KEAP1 or the NRF2 gene, generally resulting in constitutive Nrf2 activation, suggesting that "abuse" of Nrf2 function is an advantageous strategy of the (developing) tumor to protect itself against oxidative stress in general.
|
NA
|
{
"id": 2551,
"name": "GABPA",
"pos": [
384,
4
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
90,
7
]
}
|
We then investigated whether the clinical course of FALS mice could be modified by the reduced expression of MTs, by crossing the FALS mice with MT-I- and MT-II-deficient mice.
|
biomarker
|
{
"id": 4498,
"name": "MT1JP",
"pos": [
145,
4
]
}
|
{
"id": "C1862939",
"name": "AMYOTROPHIC LATERAL SCLEROSIS 1",
"pos": [
130,
4
]
}
|
Immunoreactivity for CYP27B1 was significantly lower in the vertical growth phase and metastatic melanomas (0.6 and 0.5 arbitrary units, respectively) in comparison with nevi and radial growth phase tumors (1.2 and 1.1 arbitrary units, respectively); and expression was reduced in more advanced lesions (Clark levels III-V, Breslow thickness ≥2.1 mm; 0.8 and 0.7 arbitrary units, respectively).
|
NA
|
{
"id": 1594,
"name": "CYP27B1",
"pos": [
21,
7
]
}
|
{
"id": "C0027960",
"name": "Nevus",
"pos": [
170,
4
]
}
|
Also, drug-gene interactions between calcium channel antagonists and ACE I/D polymorphism regarding arterial stiffness have been reported.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
69,
3
]
}
|
{
"id": "C0599949",
"name": "Arterial Stiffness",
"pos": [
100,
18
]
}
|
MRI findings in these patients were compared with available MRIs in a database of unclassified leukoencephalopathies; 11 patients with similar MRI abnormalities were selected.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
143,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
147,
13
]
}
|
A 70-year-old woman was admitted with rectal bleeding accompanied by widespread petechiae, bruising, tongue and buccal mucosa bleeding, and epistaxes and proved refractory to HLA- and HPA-matched PLTs.
|
NA
|
{
"id": 10855,
"name": "HPSE",
"pos": [
184,
3
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
126,
8
]
}
|
Genotype-phenotype correlation analysis showed that the onset of hypothyroidism occurred during the neonatal period with four NIS mutations (neonatal onset of hypothyroidism genotype), during infancy with three NIS mutations (infancy onset of hypothyroidism genotype), and during childhood with three NIS mutations (childhood onset of hypothyroidism genotype).
|
NA
|
{
"id": 6528,
"name": "SLC5A5",
"pos": [
301,
3
]
}
|
{
"id": "C1855106",
"name": "Neonatal onset",
"pos": [
141,
14
]
}
|
We hypothesize that an unknown gene or genes in linkage with the polymorphisms is (are) responsible for the relationship between risk of prostate cancer and VDR polymorphisms.
|
genomic_alterations
|
{
"id": 7421,
"name": "VDR",
"pos": [
157,
3
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
137,
15
]
}
|
α2A-Adrenergic receptor polymorphism potentiates platelet reactivity in patients with stable coronary artery disease carrying the cytochrome P450 2C19*2 genetic variant.
|
genomic_alterations
|
{
"id": 150,
"name": "ADRA2A",
"pos": [
0,
23
]
}
|
{
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
93,
23
]
}
|
This study is to investigate roles of different UEV1 splicing variants, and its close homolog MMS2, in promoting tumorigenesis and metastasis in breast cancer cells.
|
NA
|
{
"id": 7335,
"name": "UBE2V1",
"pos": [
48,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
113,
13
]
}
|
Paw swelling and weight were measured, and pathological joint sections of CIA rats were observed using the hematoxylin and eosin (HE) staining method.
|
NA
|
{
"id": 25842,
"name": "ASF1A",
"pos": [
74,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
17,
6
]
}
|
These findings reveal a specific role for MEK5-ERK5 in the induction of eccentric cardiac hypertrophy and in transduction of cytokine signals that regulate serial sarcomere assembly.
|
NA
|
{
"id": 5598,
"name": "MAPK7",
"pos": [
47,
4
]
}
|
{
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
82,
19
]
}
|
Our findings point out the association between PMS2 and TS, and support the hypothesis that patients with a few polyps, small bowel tumors with a very early onset, glioblastoma, and CALS should be considered as a variant of hereditary nonpolyposis colorectal cancer.
|
NA
|
{
"id": 767,
"name": "CA8",
"pos": [
182,
4
]
}
|
{
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
164,
12
]
}
|
The widespread expression pattern of angiogenin suggests a physiological function that is not restricted to the neovascularization process.
|
NA
|
{
"id": 283,
"name": "ANG",
"pos": [
37,
10
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
112,
18
]
}
|
In 3769 subjects who did not use blood pressure-lowering medication, the association between the IGF-I polymorphism and blood pressure was examined.
|
NA
|
{
"id": 3479,
"name": "IGF1",
"pos": [
97,
5
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
120,
14
]
}
|
However, ECE mRNA expression was increased by 77.5% at 1 h and by 74.6% at 2 h following ischaemia compared with pre-ischaemic values (P<0.05).
|
NA
|
{
"id": 1889,
"name": "ECE1",
"pos": [
9,
3
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
89,
9
]
}
|
Overall, 61 significant associations (P < or = 0.01) were found between SNPs belonging to cytokine receptor genes regulating T helper (Th)1 (IL12RB2, IL2RA and B) and Th2 (IL4R and IL10RB) immunity, and cytokine (IL1B, TNFA, IL6 and IFNB1) and cytokine receptor (IL1RA, IFNAR2, IL18R1, TNFRSF1A and B) genes regulating innate immunity and variations in antibody levels to measles, mumps and/or rubella.
|
NA
|
{
"id": 3553,
"name": "IL1B",
"pos": [
213,
4
]
}
|
{
"id": "C0035920",
"name": "Rubella",
"pos": [
394,
7
]
}
|
Genetic studies of atopy rely upon evidence of abnormal IgE production, usually elevated total IgE or skin prick test (SPT) reactions.
|
NA
|
{
"id": 189,
"name": "AGXT",
"pos": [
119,
3
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
19,
5
]
}
|
They were classified to FAB subtypes RA, RARS and RAEBT; eosinophilia or abnormal eosinophils were not observed.
|
biomarker
|
{
"id": 5917,
"name": "RARS1",
"pos": [
41,
4
]
}
|
{
"id": "C1306759",
"name": "Eosinophilic disorder",
"pos": [
57,
12
]
}
|
HER-2/neu oncogene is believed to be involved in tumorigenesis of several human malignancies.
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
0,
9
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
49,
13
]
}
|
This study investigated the potential role of variants in this pathway on lung cancer risk by examining 53 tag-SNPs representing the common variations in AKR1C1, AKR1C2, CBR1, and HSD11B1 in 456 lung cancer cases and 807 controls.
|
NA
|
{
"id": 1646,
"name": "AKR1C2",
"pos": [
162,
6
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
195,
11
]
}
|
After Hb S [β6(A3)Glu→Val, GAG>GTG], Hb C [β6(A3)Glu→Lys, GAG>AAG] is the most common hemoglobin (Hb) abnormality identified in the United States (1,2).
|
NA
|
{
"id": 4350,
"name": "MPG",
"pos": [
63,
3
]
}
|
{
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
87,
10
]
}
|
Moreover, CD56 expression was significantly associated with P-glycoprotein (PGP) hyperexpression (P = 0.007), unfavorable cytogenetic abnormalities (P = 0.008) and with a reduced probability of achieving complete remission (CR) (36% vs 68%) (P = 0.035) as well as with a shorter survival (6 vs 12 months) (P = 0.032).
|
NA
|
{
"id": 4684,
"name": "NCAM1",
"pos": [
10,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
122,
25
]
}
|
In conclusion, DLP SIRT1 expression from calorie-restricted mice was not altered during carcinogenesis.
|
NA
|
{
"id": 54957,
"name": "TXNL4B",
"pos": [
15,
3
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
88,
14
]
}
|
Analysis of SVs in 12 sporadic breast cancers revealed full-length (FL)-PTEN transcript reduction in 10; SVs 3b, 3c and 5c not expressed in 7, 6 and 4, respectively, and under-expressed in the rest.
|
NA
|
{
"id": 5728,
"name": "PTEN",
"pos": [
72,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
22,
8
]
}
|
Migraine patients (n = 265) with or without aura and migraine-free controls (n = 154) were assessed and genotyped for six genetic variants spanning the A2AR gene.
|
NA
|
{
"id": 135,
"name": "ADORA2A",
"pos": [
152,
4
]
}
|
{
"id": "C0236018",
"name": "Aura",
"pos": [
44,
4
]
}
|
Nuclear accumulation of the E3 ubiquitin ligase SIAH-1 supports different pro-tumorigenic cellular processes associated with tumor growth and tumor cell dissemination in human hepatocarcinogenesis.
|
NA
|
{
"id": 5071,
"name": "PRKN",
"pos": [
28,
19
]
}
|
{
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
176,
20
]
}
|
Moreover, concomitant expression of BRAF(V600E) and TP53(R270H) result in lethal PDA.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
36,
4
]
}
|
{
"id": "C0013274",
"name": "Patent ductus arteriosus",
"pos": [
81,
3
]
}
|
Thus, Cav-1 and FASN may functionally cooperate in the process of pancreatic tumorigenesis, and as such, may be good candidate prognostic markers and targets for therapeutic intervention.
|
NA
|
{
"id": 2194,
"name": "FASN",
"pos": [
16,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
77,
13
]
}
|
We conclude that IL-1beta, at least partially, reduces hypoxia-induced EPO expression by down-regulation of HNF-4alpha.
|
NA
|
{
"id": 2056,
"name": "EPO",
"pos": [
71,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
55,
7
]
}
|
We also discovered that LINC00152 could enhance cell migration and invasion.
|
biomarker
|
{
"id": 112597,
"name": "CYTOR",
"pos": [
24,
9
]
}
|
{
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
67,
8
]
}
|
Association of overall survival (OS) and HER2 status was assessed by a Cox regression model.
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
41,
4
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
75,
10
]
}
|
Bmax (but not the dissociation constant, Kd) for the adenosine A1 receptor in VAT from AAW was higher (P < 0.05) than in VAT from CAW.
|
NA
|
{
"id": 134,
"name": "ADORA1",
"pos": [
53,
21
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
18,
12
]
}
|
We used linear regression to study association between individual SNPs and the combined allelic risk score with body mass index (BMI), fat mass index (FMI), fat percentage (FAT), waist circumference (WC) and waist to hip ratio (WHR).
|
NA
|
{
"id": 948,
"name": "CD36",
"pos": [
173,
3
]
}
|
{
"id": "C0205682",
"name": "Waist-Hip Ratio",
"pos": [
208,
18
]
}
|
We earlier reported a significant association between the cytochrome P450 2D6 (CYP2D6) genotype and the clinical outcome in 282 Japanese breast cancer patients receiving tamoxifen monotherapy.
|
genomic_alterations
|
{
"id": 1565,
"name": "CYP2D6",
"pos": [
79,
6
]
}
|
{
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
137,
13
]
}
|
Thus, FOXR2 may be an attractive therapeutic target for the treatment of prostate cancer.
|
biomarker
|
{
"id": 139628,
"name": "FOXR2",
"pos": [
6,
5
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
73,
15
]
}
|
Coeliac disease (gluten-sensitive enteropathy; GSE) and inflammatory bowel disease (IBD) are common gastrointestinal disorders.
|
NA
|
{
"id": 317782,
"name": "CELIAC2",
"pos": [
47,
3
]
}
|
{
"id": "C0017178",
"name": "Gastrointestinal Diseases",
"pos": [
100,
26
]
}
|
In support of this, we have recently confirmed in models of Alzheimer's and Parkinson's disease that mice lacking the type-I IFN receptor (IFNAR1), display an attenuated neuroinflammatory response with subsequent neuroprotection.
|
biomarker
|
{
"id": 3454,
"name": "IFNAR1",
"pos": [
139,
6
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
76,
19
]
}
|
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