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We further show that the absence of Top2beta does not alleviate NK314 hypersensitivity of cells deficient in non-homologous end-joining, a critical pathway for repairing Top2-mediated DSBs.
|
NA
|
{
"id": 7153,
"name": "TOP2A",
"pos": [
170,
4
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
70,
16
]
}
|
Monoclonal antibody (Mab) 11D1 specific for HHV-8 showed a predominantly nuclear membrane fluorescence with about 30% of phorbol ester (TPA)-induced HHV-8-carrying BCBL-1 cells and with 2-8% of uninduced cells, but not with other herpes viruses infected cells.
|
NA
|
{
"id": 5327,
"name": "PLAT",
"pos": [
136,
3
]
}
|
{
"id": "C0019340",
"name": "Herpes NOS",
"pos": [
230,
6
]
}
|
Myeloid cell differentiation arrest by miR-125b-1 in myelodysplastic syndrome and acute myeloid leukemia with the t(2;11)(p21;q23) translocation.
|
genomic_alterations
|
{
"id": 406911,
"name": "MIR125B1",
"pos": [
39,
10
]
}
|
{
"id": "C2347761",
"name": "Childhood Myelodysplastic Syndrome",
"pos": [
53,
24
]
}
|
An increase in ulcer index, TNF-α and IL-1β were observed in normal (NR)-AA rat compared to NR-normal saline rat, which were further increased in DR-AA rat while, treatments of DR-AA rat with MSE, OMZ, INS and PTX reversed them, more so with MSE and PTX.
|
NA
|
{
"id": 2027,
"name": "ENO3",
"pos": [
242,
3
]
}
|
{
"id": "C0041582",
"name": "Ulcer",
"pos": [
15,
5
]
}
|
We found a significant association between smoking and CAD; the presence of either of the respective genotypes together with smoking increased the CAD risk (GSTP1 A105 RR=1.382; 95% CI 0.958 - 1.994; p=0.0987 and GSTM1 null RR=1.725; 95% CI 1.044 - 2.851; p=0.0221).
|
NA
|
{
"id": 2944,
"name": "GSTM1",
"pos": [
213,
5
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
125,
7
]
}
|
Tuberous sclerosis complex 1 (TSC1) is mTORC1 upstream inhibitory protein.
|
genomic_alterations
|
{
"id": 7248,
"name": "TSC1",
"pos": [
30,
4
]
}
|
{
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
0,
26
]
}
|
This discrepancy prompted us to determine ADH2, ALDH2 and CYP2E1 genotypes in the genomic DNA extracted from white blood cells of 855 healthy middle-aged Japanese men, and to analyse the associations with the alcohol-blood pressure (BP) relationship.
|
NA
|
{
"id": 1571,
"name": "CYP2E1",
"pos": [
58,
6
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
217,
14
]
}
|
Although being genetically close to each other, EV71 infection can cause serious and fatal neurological complications like encephalitis, myocarditis, acute flaccid paralysis (AFP) and aseptic meningitis, but not in CA16 infections.
|
NA
|
{
"id": 174,
"name": "AFP",
"pos": [
175,
3
]
}
|
{
"id": "C0014038",
"name": "Encephalitis",
"pos": [
123,
12
]
}
|
We have examined the immunohistochemical expression of BDNF, full-length TrkB receptor and the NMDAR subunit 1 and subunit 2A/B proteins (NMDAR1 and NMDAR2A/B) in glioneuronal tumors (gangliogliomas, GG, n = 40; dysembryoplastic neuroepithelial tumors, DNT, n = 15), from patients with chronic intractable epilepsy.
|
NA
|
{
"id": 2902,
"name": "GRIN1",
"pos": [
138,
6
]
}
|
{
"id": "C0206715",
"name": "Neoplasms, Neuroepithelial",
"pos": [
229,
22
]
}
|
Currently it is not possible to predict the phenotype in carriers of mutations in these genes, although it is widely accepted that mutations in the MYH7 gene predispose to severe HC, whereas TNNT2 mutations are frequently linked to sudden cardiac death (SCD) in spite of minimal hypertrophy.
|
NA
|
{
"id": 7139,
"name": "TNNT2",
"pos": [
191,
5
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
279,
11
]
}
|
The development of TSC is associated with alterations within a gene on chromosome 9q34 ( TSC1) and a gene on chromosome 16p13 ( TSC2).
|
genomic_alterations
|
{
"id": 7248,
"name": "TSC1",
"pos": [
89,
4
]
}
|
{
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
19,
3
]
}
|
Usher syndrome type IIA (MIM: 27601) is an autosomal recessive disorder characterized by moderate to severe congenital deafness and progressive retinitis pigmentosa.
|
NA
|
{
"id": 9788,
"name": "MTSS1",
"pos": [
25,
3
]
}
|
{
"id": "C0035334",
"name": "Retinitis Pigmentosa",
"pos": [
144,
20
]
}
|
Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB.
|
NA
|
{
"id": 4519,
"name": "CYTB",
"pos": [
305,
3
]
}
|
{
"id": "C0014067",
"name": "Occipital Encephalocele",
"pos": [
189,
23
]
}
|
Polymorphisms within genes of the GST superfamily were associated with risk of asthma and atopy in Tunisia.
|
NA
|
{
"id": 133482,
"name": "SLCO6A1",
"pos": [
34,
3
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
90,
5
]
}
|
We then demonstrated that HIF-1alpha directly regulated BCL-xL transcription by binding to a hypoxia-responsive element in the BCL-xL promoter (-865 to -847) by reporter gene assay, chromatin immunoprecipitation, and electrophoretic mobility shift and supershift assays.
|
NA
|
{
"id": 598,
"name": "BCL2L1",
"pos": [
127,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
93,
7
]
}
|
HPV16 mice deficient in CD4+ T cells were found to have delayed neoplastic progression and a lower incidence of tumors.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
24,
3
]
}
|
{
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
64,
22
]
}
|
Association of the cholesteryl ester transfer protein Taq1 B2B2 genotype with higher high-density lipoprotein cholesterol concentrations and lower risk of coronary artery disease in a Tunisian population.
|
genomic_alterations
|
{
"id": 1071,
"name": "CETP",
"pos": [
19,
34
]
}
|
{
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
155,
23
]
}
|
However, the respective timeframes and signal thresholds for ARF induction and DDR activation during tumorigenesis remain elusive.
|
NA
|
{
"id": 780,
"name": "DDR1",
"pos": [
79,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
101,
13
]
}
|
Genetic studies have helped identify a number of factors that link thiamine to cancer, including the solute carrier transporter (SLC19) gene, transketolase, transcription factor p53, poly(ADP-ribose) polymerase-1 gene, and the reduced form of nicotinamide adenine dinucleotide phosphate.
|
genomic_alterations
|
{
"id": 7086,
"name": "TKT",
"pos": [
142,
13
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
79,
6
]
}
|
Within the population of nonobese PCOS patients, insulin resistance is not associated with a more pronounced response to ACTH stimulation.
|
NA
|
{
"id": 5443,
"name": "POMC",
"pos": [
121,
4
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
49,
18
]
}
|
They found that the mother, who also had not supplemented her folic acid intake, had a secondarily altered folate status with an increased homocysteine level, suggesting that the homozygous TT mutation in the MTHFR gene in both mother and her child had contributed to the presentation of DS and a neural tube defect.
|
genomic_alterations
|
{
"id": 4524,
"name": "MTHFR",
"pos": [
209,
5
]
}
|
{
"id": "C4521042",
"name": "Complete Trisomy 21 Syndrome",
"pos": [
288,
2
]
}
|
These results suggested that LPL determined not only hydrolysis of triglyceride-rich lipoproteins but also lipolytic conversion, and that overexpression of LPL acted to protect against diet-induced hypertriglyceridemia as well as hypercholesterolemia.
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
156,
3
]
}
|
{
"id": "C0020443",
"name": "Hypercholesterolemia",
"pos": [
230,
20
]
}
|
In the present study, we investigated the association between Gly460Trp polymorphism of the alpha-adducin gene and hypertension in Japanese subjects.
|
genomic_alterations
|
{
"id": 118,
"name": "ADD1",
"pos": [
92,
13
]
}
|
{
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
115,
12
]
}
|
Further analysis revealed a negative correlation between Ghsr expression in the VTA and alcohol intake.
|
NA
|
{
"id": 2693,
"name": "GHSR",
"pos": [
57,
4
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
88,
14
]
}
|
Few studies have focused on the combinatorial effect of the GST genes on susceptibility to lung cancer and also for different histological subtypes.
|
genomic_alterations
|
{
"id": 133482,
"name": "SLCO6A1",
"pos": [
60,
3
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
91,
11
]
}
|
The FcgR2a*519GG and FcgR3a*559CC genotypes have been associated with several autoimmune diseases including systemic lupus erythematosus, rheumatoid arthritis, nephritis, and possibly to type I diabetes, and celiac disease.
|
genomic_alterations
|
{
"id": 2212,
"name": "FCGR2A",
"pos": [
4,
6
]
}
|
{
"id": "C0007570",
"name": "Celiac Disease",
"pos": [
208,
14
]
}
|
Naturally occurring swine influenza A virus PB1-F2 phenotypes that contribute to superinfection with Gram-positive respiratory pathogens.
|
NA
|
{
"id": 55193,
"name": "PBRM1",
"pos": [
44,
3
]
}
|
{
"id": "C0038826",
"name": "Superinfection",
"pos": [
81,
14
]
}
|
The tested compound induced apoptosis, increased the cell numbers in G1 and decreased cell number in S/G2 phases of the cell cycle, differentially regulating CDKN1A and TP53 gene expression depending on cancer cell type.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
169,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
203,
6
]
}
|
PATIENTS included 29 patients (16 males) with SDHB-related abdominal or thoracic PGL.
|
NA
|
{
"id": 6390,
"name": "SDHB",
"pos": [
46,
4
]
}
|
{
"id": "C0729233",
"name": "Dissecting aneurysm of the thoracic aorta",
"pos": [
72,
8
]
}
|
Functionally, we observed that FOXC2 mediates the FOXF2-regulated EMT phenotype, aggressive behavior, and multiple chemotherapy drug resistance of BLBC cells.
|
NA
|
{
"id": 2295,
"name": "FOXF2",
"pos": [
50,
5
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
81,
19
]
}
|
Nuclear phosphorylated p38 and the secretion of IL-6 are increased in patient cells both in vitro and in vivo, which may account for the inflammatory response and periodic fever observed in these patients.
|
biomarker
|
{
"id": 10598,
"name": "AHSA1",
"pos": [
23,
3
]
}
|
{
"id": "C0015974",
"name": "Periodic fever",
"pos": [
163,
14
]
}
|
The study clearly demonstrates that HLA associations in type 1 diabetes extends far beyond the well-known associations with the DR4-DQ8 and DR3-DQ2 haplotypes.
|
NA
|
{
"id": 8797,
"name": "TNFRSF10A",
"pos": [
128,
3
]
}
|
{
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
56,
15
]
}
|
Importantly, silencing miR-133b enhances invasion and migration abilities in vitro and bone metastasis ability in vivo in REST-silenced PCa cells.
|
genomic_alterations
|
{
"id": 5978,
"name": "REST",
"pos": [
122,
4
]
}
|
{
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
87,
15
]
}
|
Our data suggest a disease-related dissociation of executive attention with reduced conflict effects in SZP.
|
NA
|
{
"id": 10216,
"name": "PRG4",
"pos": [
104,
3
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
35,
12
]
}
|
The CRF group exhibited azotemia, hypertension, proteinuria, diminished body weight, oxidative stress, glomerulosclerosis, tubulo-interstitial inflammation and upregulation of pro-oxidant [NAD(P)H oxidase], pro-inflammatory (NF-κB activation, increased MCP-1, lipoxygenase, ICAM-1, VCAM-1), pro-fibrotic (TGF-β, CTGF) and pro-apoptotic pathways (Bax, caspase-3) in the remnant kidney.
|
NA
|
{
"id": 1490,
"name": "CCN2",
"pos": [
312,
4
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
72,
11
]
}
|
FTO mRNA levels were not related to measures of insulin sensitivity and glucose metabolism.
|
NA
|
{
"id": 79068,
"name": "FTO",
"pos": [
0,
3
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
48,
19
]
}
|
Patients with antinuclear antibodies had a higher frequency of the A1-B8-DR3 haplotype than patients without these antibodies (27% versus 12%, p = 0.04) and patients with concurrent immunological diseases had a higher frequency of HLA DR4 than patients without this antigen (51% versus 26%, p = 0.003).
|
NA
|
{
"id": 8718,
"name": "TNFRSF25",
"pos": [
73,
3
]
}
|
{
"id": "C0021053",
"name": "Immune System Diseases",
"pos": [
182,
22
]
}
|
<b>Method</b>: Three groups of asylum seekers from different countries (<i>N</i> = 99) completed the Traumatic Grief Inventory Self-Report Version (TGI-SR), Posttraumatic Stress Disorder Checklist-5 (PCL-5), and Patient Health Questionnaire depression module (PHQ-9).
|
genomic_alterations
|
{
"id": 9033,
"name": "PKD2L1",
"pos": [
224,
3
]
}
|
{
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
265,
10
]
}
|
Cerebral ischemia causes increased transcription of sulfonylurea receptor 1 (SUR1), which forms SUR1-regulated NC(Ca-ATP) channels linked to cerebral edema.
|
NA
|
{
"id": 6833,
"name": "ABCC8",
"pos": [
96,
4
]
}
|
{
"id": "C0006114",
"name": "Cerebral Edema",
"pos": [
141,
14
]
}
|
Some FA gene products involved in redox homeostasis can be summarized as follows: (a) FANCA, FANCC, and FANCG interact with cytochrome P450-related activities and/or respond to oxidative damage; (b) FANCD2 in OS response interacts with forkhead box O3 and ataxia telangiectasia mutated protein; (c) FANCG is found in mitochondria and interacts with PRDX3, and FA-G cells display distorted mitochondria and decreased peroxidase activity; (d) FANCJ (BACH1/BRIP1) is a repressor of haeme oxygenase-1 gene and senses oxidative base damage; (e) antioxidants, such as tempol and resveratrol decrease cancer incidence and haematopoietic defects in Fancd2(-/-) mice.
|
NA
|
{
"id": 2175,
"name": "FANCA",
"pos": [
86,
5
]
}
|
{
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
263,
14
]
}
|
Although genetic tests for liver cholestatic diseases were performed with negative results for Alagille syndrome (JAG1 and NOTCH2), a de-novo missense mutation of HNF1β gene was detected.
|
genomic_alterations
|
{
"id": 4853,
"name": "NOTCH2",
"pos": [
123,
6
]
}
|
{
"id": "C0085280",
"name": "Alagille Syndrome",
"pos": [
95,
17
]
}
|
Immunofluorescence analysis of DNA damage response protein p53-binding protein 1 in a case of uterine dedifferentiated leiomyosarcoma arising from leiomyoma.
|
biomarker
|
{
"id": 7158,
"name": "TP53BP1",
"pos": [
59,
21
]
}
|
{
"id": "C0278607",
"name": "Adult Leiomyosarcoma",
"pos": [
119,
14
]
}
|
Six ALS-related molecules, TDP-43, FUS, TAF15, EWSR1, heterogeneous nuclear (hn)RNPA1 and hnRNPA2 are RNA-binding proteins containing candidate mutations identified in ALS patients and those share several common features, including harboring an aggregation-prone prion-like domain (PrLD) containing a glycine/serine-tyrosine-glycine/serine (G/S-Y-G/S)-motif-enriched low-complexity sequence and rich in glutamine and/or asparagine.
|
genomic_alterations
|
{
"id": 3181,
"name": "HNRNPA2B1",
"pos": [
90,
7
]
}
|
{
"id": "C0002736",
"name": "Amyotrophic Lateral Sclerosis",
"pos": [
168,
3
]
}
|
Synovial class I HDAC expression was associated with local expression of tumour necrosis factor (TNF) and matrix metalloproteinase-1, while class IIa HDAC5 expression was inversely associated with parameters of disease activity (erythrocyte sedimentation rate, C-reactive protein, Disease Activity Score in 28 Joints).
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
261,
18
]
}
|
{
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
229,
30
]
}
|
Indeed, we previously found PRAS40 gene therapy to improve metabolic profile; however, its function in endothelial cells and its role in atherosclerosis remain unknown.
|
biomarker
|
{
"id": 84335,
"name": "AKT1S1",
"pos": [
28,
6
]
}
|
{
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
137,
15
]
}
|
Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion in the androgen receptor gene; it is clinically characterized by adult-onset, slowly progressive weakness and atrophy mainly affecting proximal limb and bulbar muscles.
|
NA
|
{
"id": 367,
"name": "AR",
"pos": [
126,
22
]
}
|
{
"id": "C0333641",
"name": "Atrophic",
"pos": [
229,
7
]
}
|
Tumors were examined for alterations commonly seen in typical colorectal carcinomas, including increased p53 and beta-catenin immunoreactivity, K-ras gene mutations, microsatellite instability, and loss of heterozygosity of markers on chromosomes 5q, 17p, and 18q.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
105,
3
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
166,
26
]
}
|
Real-time PCR analysis of human ACC (n=8), adenoma (n=8), and ACC cell lines (SW13, NCI-H295R, and HAC15) revealed a significant down-regulation of TLR4, MD2 (myeloid differentiation protein-2), and cluster of differentiation 14 (CD14) mRNA compared with normal human adrenal cortex and adrenocortical cells in primary culture.
|
NA
|
{
"id": 23643,
"name": "LY96",
"pos": [
154,
3
]
}
|
{
"id": "C0001430",
"name": "Adenoma",
"pos": [
43,
7
]
}
|
We found similar cellular infiltration patterns in response to needle prick in BD patients and controls between 0 and 8 h. Further development of this immune response was limited in skin of normal control subjects, with stable or decreased inflammatory mediators observed at 48 h. In contrast, in BD-derived skin specimens, increased influxes of mature dendritic cells, monocytes, and lymphocytes, including T regulatory cells, were noted by 48 h. Similarly, increases in cytokines (IFN-gamma, IL-12 p40, IL-15), chemokines (MIP3-alpha, IP-10, Mig, and iTac), and adhesion molecules (ICAM-1, VCAM-1) were noted at 48 h in the skin of BD patients with SPR(+) but not in the skin of normal controls.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
483,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
564,
8
]
}
|
Two haplotypes spanning the TNF/LTA genes were associated with increased risk for spontaneous preterm birth in white subjects (for the AGG haplotype, OR = 1.5 [95% CI=0.8-2.6]; for the GAC haplotype, 1.6 [0.9-2.9]).
|
NA
|
{
"id": 4049,
"name": "LTA",
"pos": [
32,
3
]
}
|
{
"id": "C3827961",
"name": "Spontaneous Preterm Birth",
"pos": [
82,
25
]
}
|
Induction of heart failure in rats has significantly increased circulating NT-proBNP (980 ± 116.71 pg/ml), MMP9 (15.85 ± 0.57 ng/ml), troponin-I (3.09 ± 0.147 ng/ml), CK-MB (31.55 ± 1.69 ng/ml), renin (736 ± 45.8 pg/ml), urea (52.1 ± 1.57 mg/dl), and creatinine (0.92 ± 0.04 mg/dl).
|
biomarker
|
{
"id": 4318,
"name": "MMP9",
"pos": [
107,
4
]
}
|
{
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
13,
13
]
}
|
Reversal of cardiomyocyte hypertrophy during LVAD support was accompanied by normalization of ANP, BNP and NPR-C mRNA levels and a significant recovery of GC-A responsiveness to ANP.
|
NA
|
{
"id": 4878,
"name": "NPPA",
"pos": [
178,
3
]
}
|
{
"id": "C4227331",
"name": "Cardiomyocyte hypertrophy",
"pos": [
12,
25
]
}
|
We compared the cancer incidence in members of successive generations of these families with P53 mutations (carriers) and with no P53 mutations (noncarriers).
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
130,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
16,
6
]
}
|
ERBB2 or FGFR3 alterations were present in 57% of high-grade NMIBC tumors in a mutually exclusive pattern.
|
genomic_alterations
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
0,
5
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
67,
6
]
}
|
Sixty-seven of 265 sporadic colorectal cancer cases and five of 113 sporadic adenoma cases showed loss of MGMT expression (P < 0.001).
|
NA
|
{
"id": 4255,
"name": "MGMT",
"pos": [
106,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
68,
8
]
}
|
Extracellular-signal-regulated kinase(1/2) (ERK(1/2)) and c-Jun NH2-terminal kinase (JNK) inhibition completely abrogated CS effects on HO-1 expression and nuclear Nrf2/Bach1 translocation.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
44,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
175,
13
]
}
|
The COX-2 rs20417 polymorphism and risk of coronary artery disease: evidence from 17,621 subjects.
|
genomic_alterations
|
{
"id": 107075310,
"name": "MTCO2P12",
"pos": [
4,
5
]
}
|
{
"id": "C0010068",
"name": "Coronary heart disease",
"pos": [
43,
23
]
}
|
Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is caused by mutations in the WFS1 gene.
|
NA
|
{
"id": 7466,
"name": "WFS1",
"pos": [
115,
9
]
}
|
{
"id": "C0011053",
"name": "Deafness",
"pos": [
75,
8
]
}
|
Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
42,
3
]
}
|
{
"id": "C0432072",
"name": "Dysmorphic features",
"pos": [
189,
19
]
}
|
CONCLUSIONS: overall, this large study refines estimates of disease risk associated with mono-allelic and bi-allelic MUTYH carriers.
|
NA
|
{
"id": 4595,
"name": "MUTYH",
"pos": [
117,
5
]
}
|
{
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
89,
4
]
}
|
An inherited variant of the estrogen receptor gene was previously suggested to be a major determinant of a woman's risk of miscarriage.
|
NA
|
{
"id": 2099,
"name": "ESR1",
"pos": [
28,
17
]
}
|
{
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
123,
11
]
}
|
We further tested Epstein-Barr virus (EBV)-transformed B cells from patients with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), an inherited disorder of NF-kappaB function.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
171,
9
]
}
|
{
"id": "C0162359",
"name": "Christ-Siemens-Touraine syndrome",
"pos": [
82,
31
]
}
|
Confocal microscopy demonstrated structural disruption of both focal adhesions and tight junctions by the downregulation of these gene targets, resulting in decreased cell survival, migration and adhesion to extracellular matrix (ECM) components in two androgen-independent human prostate cancer cell lines, PC-3 and DU-145.
|
NA
|
{
"id": 692094,
"name": "MSMP",
"pos": [
308,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
196,
8
]
}
|
We assessed GIP response to SFA ingestion and its effect on glucose and lipid metabolism and on liver injury in patients with nonalcoholic steatohepatitis (NASH).
|
NA
|
{
"id": 114897,
"name": "C1QTNF1",
"pos": [
12,
3
]
}
|
{
"id": "C3241937",
"name": "Nonalcoholic Steatohepatitis",
"pos": [
126,
28
]
}
|
Patients with RTN4IP1 mutations show early-onset optic neuropathy that can be followed by additional neurological symptoms such as seizures, ataxia, mental retardation, or even severe encephalopathy.
|
genomic_alterations
|
{
"id": 84816,
"name": "RTN4IP1",
"pos": [
14,
7
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
131,
8
]
}
|
In fact, DC containing CD11c(+) F4/80(-) cell populations from the lungs of infected mice were most capable of stimulating mycoplasma-specific CD4(+) Th cell responses in vitro.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
143,
3
]
}
|
{
"id": "C0026936",
"name": "Mycoplasma Infections",
"pos": [
123,
10
]
}
|
Molecular anomalies are mostly epigenetic; however, mutations of CDKN1C are implicated in 8% of cases, including both sporadic and familial forms.
|
NA
|
{
"id": 1028,
"name": "CDKN1C",
"pos": [
65,
6
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
118,
8
]
}
|
We compared the inducible NO synthase (NOS2) expression in the liver of patients with chronic viral hepatitis with that of both nonviral liver disease and histologically normal liver.
|
NA
|
{
"id": 339345,
"name": "NANOS2",
"pos": [
39,
4
]
}
|
{
"id": "C0276623",
"name": "Chronic viral hepatitis",
"pos": [
86,
23
]
}
|
PEComas are related to the genetic alterations of tuberous sclerosis complex (TSC), an autosomal dominant genetic disease due to losses of TSC1 (9q34) or TSC2 (16p13.3) genes which seem to have a role in the regulation of the Rheb/mTOR/p70S6K pathway.
|
genomic_alterations
|
{
"id": 7248,
"name": "TSC1",
"pos": [
139,
4
]
}
|
{
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
50,
26
]
}
|
Oral ethosuximide was given from age p21 to 5 months, covering the usual period in which seizures develop in this model (age approximately 3 months).
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
37,
3
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
89,
8
]
}
|
Immunological and molecular evaluation of a patient presenting with recurrent infections caused by Streptococcus pneumoniae and low complement component 3 (C3) levels.
|
NA
|
{
"id": 718,
"name": "C3",
"pos": [
132,
22
]
}
|
{
"id": "C0239998",
"name": "Recurrent infections",
"pos": [
68,
20
]
}
|
This study examined the distribution of two putative IL-4 promoter polymorphisms (-285 C-T and -81 A-G) in groups of patients with severe and moderate asthma, non-asthmatic atopy and control subjects.
|
NA
|
{
"id": 3565,
"name": "IL4",
"pos": [
53,
4
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
173,
5
]
}
|
In 10 patients, 5 patients had a deletion in exon 19 and another 5 did L858R mutation in exon 21 of EGFR in gefitinib pre-treatment tumors.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
100,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
132,
6
]
}
|
Dystonia remained focal in both siblings.A DYT1 gene deletion was excluded.
|
genomic_alterations
|
{
"id": 1861,
"name": "TOR1A",
"pos": [
43,
4
]
}
|
{
"id": "C0013421",
"name": "Dystonia",
"pos": [
0,
8
]
}
|
Our in vivo microarray, real time-PCR and confocal morphological observation confirmed apoptosis in hyperglycemia-induced fetal nephropathy via activation of the GDNF/MAPK/EGR-1 pathway at E12-E15.
|
NA
|
{
"id": 64100,
"name": "ELSPBP1",
"pos": [
189,
3
]
}
|
{
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
100,
13
]
}
|
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
|
NA
|
{
"id": 390916,
"name": "NUDT19",
"pos": [
32,
3
]
}
|
{
"id": "C0035334",
"name": "Retinitis Pigmentosa",
"pos": [
68,
20
]
}
|
The higher expression of EGFr and HER 2/neu oncoproteins in aneuploid tumors suggests that the increased proliferative activity of aneuploid carcinomas is influenced by the activity of such oncoproteins, which favors a more aggressive biological behavior.
|
NA
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
34,
5
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
131,
9
]
}
|
Gel shift assay and luciferase promoter study showed that leptin/activator protein 1 (AP-1) binding and transcriptional activity to the leptin promoter increased after hypoxia, and SP600125, JNK siRNA, losartan, and NAC abolished the binding and transcriptional activity induced by hypoxia.
|
NA
|
{
"id": 22861,
"name": "NLRP1",
"pos": [
216,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
282,
7
]
}
|
Furthermore, in patients with a mutation in HERG (SQT1), quinidine rendered ventricular tachyarrhythmias noninducible and restored the QT interval/heart rate relationship toward a reference range.
|
NA
|
{
"id": 3757,
"name": "KCNH2",
"pos": [
44,
4
]
}
|
{
"id": "C0018810",
"name": "heart rate",
"pos": [
147,
10
]
}
|
Terminal ileal biopsies from 66 patients with prominent lymphoid hyperplasia and abnormal "lymphoma-like" morphology were evaluated by immunohistochemistry (IHC) for CD3, CD5, CD43, CD20, CD21, and CD10 expression and for IGH@ gene rearrangement by polymerase chain reaction using BIOMED-2 primers.
|
NA
|
{
"id": 6693,
"name": "SPN",
"pos": [
176,
4
]
}
|
{
"id": "C0333997",
"name": "Lymphoid hyperplasia",
"pos": [
56,
20
]
}
|
The contribution of these two mechanisms in different formins is discussed, particularly with respect to INF2, a formin that is mutated in hereditary human renal and neurodegenerative disorders.
|
genomic_alterations
|
{
"id": 64423,
"name": "INF2",
"pos": [
105,
4
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
166,
27
]
}
|
ARO cells were transfected with plasmid vectors or adenoviral vectors expressing human sodium/iodide symporter (hNIS) or luciferase (Luc) under the control of cytomegalovirus (CMV) promoter.
|
NA
|
{
"id": 1588,
"name": "CYP19A1",
"pos": [
0,
3
]
}
|
{
"id": "C0010823",
"name": "Cytomegalovirus Infections",
"pos": [
159,
15
]
}
|
The disorder has a significant genetic component, and theories of etiology include abnormalities in the dopaminergic system, with DRD4, DAT1, SNAP25, and DRD5 being implicated as major susceptibility genes.
|
NA
|
{
"id": 1815,
"name": "DRD4",
"pos": [
130,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
83,
13
]
}
|
After adjusting for age, education, ethnicity, gender, and tobacco smoking, IL10 rs1800871 was inversely associated with oropharyngeal cancer (CT+TT vs. CC adjusted odds ratio [aOR]: 0.69, 95% confidence interval [CI]: 0.50-0.95), and was positively associated with lung cancer among never smokers (TT vs. CT+CC aOR: 2.5, 95% CI: 1.3-5.1) and inversely with oropharyngeal cancer among ever smokers (CT+TT vs. CC aOR: 0.63, 95% CI: 0.41-0.95).
|
genomic_alterations
|
{
"id": 3586,
"name": "IL10",
"pos": [
76,
4
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
266,
11
]
}
|
Selective expression of FLIP in malignant melanocytic skin lesions.
|
NA
|
{
"id": 8837,
"name": "CFLAR",
"pos": [
24,
4
]
}
|
{
"id": "C0037284",
"name": "Skin lesion",
"pos": [
54,
12
]
}
|
A novel SCN5A mutation was found in a child with congenital sick sinus disease, a Brugada-like electrocardiogram and recurrent aborted sudden death.
|
NA
|
{
"id": 6331,
"name": "SCN5A",
"pos": [
8,
5
]
}
|
{
"id": "C0030469",
"name": "Paranasal Sinus Disorder",
"pos": [
65,
13
]
}
|
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
|
NA
|
{
"id": 4286,
"name": "MITF",
"pos": [
0,
4
]
}
|
{
"id": "C0031911",
"name": "Pigmentation",
"pos": [
31,
7
]
}
|
These data demonstrate that CD4(+) T cells specific for a naturally processed epitope within GAD can specifically home to pancreatic islets and lead to impaired islet beta-cell function in diabetes-associated HLA-DR4 transgenic mice on the relatively non-autoimmune C57BL/6 background.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
28,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
189,
8
]
}
|
Loss of SDHB expression was not associated with increased classic hypoxia signalling as detected by Hif-1α, CA-9 or GLUT-1 staining.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
100,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
66,
7
]
}
|
The Disrupted in Schizophrenia 1 (DISC1) gene, on chromosome 1q42, was originally discovered and linked to schizophrenia in a Scottish kindred carrying a balanced translocation that disrupts DISC1 and DISC2.
|
NA
|
{
"id": 27184,
"name": "DISC2",
"pos": [
201,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
163,
13
]
}
|
The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma.
|
NA
|
{
"id": 2521,
"name": "FUS",
"pos": [
177,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
150,
13
]
}
|
In dehydrated animals, AVP increased the cytosolic Ca2+ concentration ([Ca2+]i) by 60 +/- 5 and 112 +/- 13 nM cytosolic Ca2+ in WKY and SHR, respectively (P < 0.01), whereas in hydrated animals the [Ca2+]i increase was 168 +/- 10 and 220 +/- 18 nM, respectively (P < 0.05).
|
NA
|
{
"id": 760,
"name": "CA2",
"pos": [
199,
3
]
}
|
{
"id": "C0011175",
"name": "Dehydration",
"pos": [
3,
10
]
}
|
Results showed that GSTP1 105Val allele (Ile/Val and Val/Val) was associated with a higher breast cancer risk (OR = 1.38, 95% CI: 1.14-1.69; P = 0.001) and more aggressive tumors with histological grade III (OR = 1.15, 95% CI: 1.05-1.26; P = 0.001), lymph node metastases (OR = 2.35, 95% CI: 1.72-3.21; P < 0.001), as well as ER negative (OR = 1.77, 95% CI: 1.31-2.39; P < 0.001) than those carrying the Ile/Ile allele.
|
genomic_alterations
|
{
"id": 2950,
"name": "GSTP1",
"pos": [
20,
5
]
}
|
{
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
250,
21
]
}
|
Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations.
|
genomic_alterations
|
{
"id": 5311,
"name": "PKD2",
"pos": [
133,
4
]
}
|
{
"id": "C0085413",
"name": "Polycystic Kidney, Autosomal Dominant",
"pos": [
12,
44
]
}
|
However, TAP polymorphism may allow us to define particular extended HLA haplotypes involved in susceptibility to autoimmune diseases.
|
genomic_alterations
|
{
"id": 8615,
"name": "USO1",
"pos": [
9,
3
]
}
|
{
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
114,
19
]
}
|
A combination of electrotransfer of MBD2-antisense and bleomycin electrochemotherapy has an additive inhibitory effect on the rate of tumor growth and a synergistic effect on the number of tumor-free animals when compared with either monotherapy.
|
NA
|
{
"id": 64174,
"name": "DPEP2",
"pos": [
36,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
189,
5
]
}
|
[Effectiveness of urokinase used in combination with batroxobin (DF-521) in rat model of focal cerebral ischemia-reperfusion].
|
therapeutic
|
{
"id": 5328,
"name": "PLAU",
"pos": [
18,
9
]
}
|
{
"id": "C0751846",
"name": "Left Middle Cerebral Artery Infarction",
"pos": [
95,
17
]
}
|
Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.
|
genomic_alterations
|
{
"id": 21,
"name": "ABCA3",
"pos": [
6,
5
]
}
|
{
"id": "C0476273",
"name": "Respiratory distress",
"pos": [
36,
20
]
}
|
By the age of 3 months, FLG mutations are associated with an eczema phenotype, dry skin and TEWL.
|
NA
|
{
"id": 2260,
"name": "FGFR1",
"pos": [
24,
3
]
}
|
{
"id": "C0013595",
"name": "Eczema",
"pos": [
61,
6
]
}
|
Ceramide, the product of hydrolysis of glucosylceramide by GBA and involved in the regulation of cell differentiation, survival and apoptosis, is another putative candidate linking increased GBA activity to preeclampsia.
|
NA
|
{
"id": 2629,
"name": "GBA",
"pos": [
191,
3
]
}
|
{
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
207,
12
]
}
|
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