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dict | t
dict |
|---|---|---|---|
years; body mass index [BMI]: 22.6 [range: 18.47-24.46] Kg/m(2)) completed two test sessions at 08:00 h, one scheduled after a baseline night (bedtime: from 22:30 to 07:00 h) and the other after a PSD night caused by an early awakening (bedtime: from 22:30 to 03:00 h).
|
NA
|
{
"id": 23761,
"name": "PISD",
"pos": [
197,
3
]
}
|
{
"id": "C0541798",
"name": "Early Awakening",
"pos": [
220,
15
]
}
|
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
|
NA
|
{
"id": 6606,
"name": "SMN1",
"pos": [
29,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
84,
8
]
}
|
CONCLUSIONS: This study does not support a salient role for the OPRM1 asp40 alone in predicting drinking or naltrexone effects.
|
NA
|
{
"id": 4988,
"name": "OPRM1",
"pos": [
64,
5
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
96,
8
]
}
|
Three sub-groups of patients were highlighted: (i) severe, symptomatic chronic neutropenia, detected early in life, and related to a known mutation in the CN spectrum (ELANE); (ii) mild to moderate benign intermittent neutropenia, detected later, and associated with mutations in genes implicated in neurodevelopmental disorders (CHD2, HUWE1); and (iii) moderate to severe intermittent neutropenia as a probably undiagnosed feature of a newly reported syndrome (KAT6A).
|
genomic_alterations
|
{
"id": 10075,
"name": "HUWE1",
"pos": [
336,
5
]
}
|
{
"id": "C0027947",
"name": "Neutropenia",
"pos": [
386,
11
]
}
|
Promoter polymorphisms in TGFB1 and IL10 genes influence tumor dendritic cells infiltration, development and prognosis of colorectal cancer.
|
genomic_alterations
|
{
"id": 3586,
"name": "IL10",
"pos": [
36,
4
]
}
|
{
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
122,
17
]
}
|
The aim of this study was to evaluate the association of prothrombotic gene polymorphisms [factor V Leiden (FVL) 1691GA, factor VII (FVII) 10976GA, FVII HVR4, platelet membrane glycoproteins GP1BA 1018CT, GP1BA VNTR, integrin ITGB3 1565TC, integrin ITGA2 807CT and methylenetetrahydrofolate reductase (MTHFR) 677C/T], plasma factors (fibrinogen and homocysteine) and traditional risk factors with acute myocardial infarction (AMI) in 184 patients ≤ 40 years of age and 350 controls (≤ 40 years) from north India.
|
NA
|
{
"id": 3690,
"name": "ITGB3",
"pos": [
226,
5
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
334,
10
]
}
|
There was significantly raised mortality overall [SMR, 1.5; 95% confidence interval (CI), 1.4-1.7] and from most major causes of death including cardiovascular disease (SMR, 1.3; 95% CI, 1.1-1.5), nervous system disease (SMR, 2.8; 95% CI, 1.6-4.6), and respiratory disease (SMR, 2.3; 95% CI, 1.8-2.9).
|
NA
|
{
"id": 10232,
"name": "MSLN",
"pos": [
274,
3
]
}
|
{
"id": "C0035204",
"name": "Respiration Disorders",
"pos": [
253,
19
]
}
|
Coronaviruses (CoVs), such as human coronavirus NL63 (HCoV-NL63), severe acute respiratory syndrome CoV (SARS-CoV), murine hepatitis virus (MHV), porcine epidemic diarrhea virus (PEDV), and Middle East Respiratory Syndrome Coronavirus (MERS-CoV), encode papain-like (PL) proteases that inhibit Sendai virus- (SeV-) induced interferon (IFN-<i>β</i>) production.
|
biomarker
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
335,
3
]
}
|
{
"id": "C3694279",
"name": "Middle East Respiratory Syndrome",
"pos": [
190,
32
]
}
|
In patients with proliferative diabetic retinopathy or myopia, the immunoreactivity of bFGF co-localized to glial fibrillary acidic protein (GFAP)-positive cells in surgically excised retinal tissues.
|
NA
|
{
"id": 2670,
"name": "GFAP",
"pos": [
141,
4
]
}
|
{
"id": "C0027092",
"name": "Myopia",
"pos": [
55,
6
]
}
|
Limited data exist concerning the clinical and imaging features that distinguish sporadic from familial paragangliomas (PGLs).
|
NA
|
{
"id": 25796,
"name": "PGLS",
"pos": [
120,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
81,
8
]
}
|
The ability of HDAC1 to cause muscle atrophy required its deacetylase activity and was linked to the induction of several atrophy genes by HDAC1, including atrogin-1, which required deacetylation of FoxO3a.
|
NA
|
{
"id": 2309,
"name": "FOXO3",
"pos": [
199,
6
]
}
|
{
"id": "C0026846",
"name": "Muscular Atrophy",
"pos": [
30,
14
]
}
|
TAGLN is an actin-binding protein that plays an important role in tumorigenesis.
|
NA
|
{
"id": 6876,
"name": "TAGLN",
"pos": [
0,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
66,
13
]
}
|
Epidermal growth factor pathway substrate number 8 (Eps8) was identified as a transcript overexpressed (5.9-fold) in human pituitary tumors compared with normal pituitary by DNA microarrays.
|
NA
|
{
"id": 2059,
"name": "EPS8",
"pos": [
52,
4
]
}
|
{
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
123,
16
]
}
|
We have studied the effect on time to treatment failure (TTF) and overall survival (OS) of polymorphism in the DNA repair genes ERCC1, ERCC2 and XRCC3, and in the apoptotic genes PPP1R13L and CD3EAP in 348 patients with multiple myeloma undergoing autologous bone marrow transplantation.
|
NA
|
{
"id": 2067,
"name": "ERCC1",
"pos": [
128,
5
]
}
|
{
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
220,
16
]
}
|
In vitro, HGF abrogated monocyte adhesion to TNF-alpha-activated endothelial monolayers and suppressed endothelial expression of E-selectin, which depended on NF-kappaB signaling.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
45,
9
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
33,
8
]
}
|
BACKGROUND AND OBJECTIVES: Single nucleotide polymorphisms (SNPs) within HLA complex class II HLA-DQ α-chain 1 (HLA-DQA1) and M-type phospholipase A2 receptor (PLA2R1) genes were identified as strong risk factors for idiopathic membranous nephropathy (IMN) development in a recent genome-wide association study.
|
NA
|
{
"id": 2217,
"name": "FCGRT",
"pos": [
101,
7
]
}
|
{
"id": "C0086445",
"name": "Idiopathic Membranous Glomerulonephritis",
"pos": [
217,
33
]
}
|
In particular, very low or absent FAAH and high CB1 levels correspond with spontaneous miscarriage.
|
NA
|
{
"id": 79152,
"name": "FA2H",
"pos": [
34,
4
]
}
|
{
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
87,
11
]
}
|
Ovarian serous carcinoma (OSC) is a fatal gynecologic malignancy usually presenting with bilateral localization and malignant peritoneal effusion.
|
NA
|
{
"id": 4047,
"name": "LSS",
"pos": [
26,
3
]
}
|
{
"id": "C0220656",
"name": "Malignant ascites",
"pos": [
116,
29
]
}
|
Among patients, 49 had no evidence of disease (NEDP), 54 had bone metastases (BMP) at first diagnosis, and 10 had visceral metastases (VMP).
|
NA
|
{
"id": 140767,
"name": "NRSN1",
"pos": [
135,
3
]
}
|
{
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
61,
15
]
}
|
The 2003 SARS and 2014 Ebola outbreaks illustrate the potential of epidemics unlikely to be transmitted by blood transfusion but disruptive to blood systems.
|
biomarker
|
{
"id": 54938,
"name": "SARS2",
"pos": [
9,
4
]
}
|
{
"id": "C0282687",
"name": "Hemorrhagic Fever, Ebola",
"pos": [
23,
5
]
}
|
According to our results, it seems that miR-29a is a potent inducer of apoptosis in SSc fibroblasts and an attenuator of ECM production in these cells.
|
biomarker
|
{
"id": 407021,
"name": "MIR29A",
"pos": [
40,
7
]
}
|
{
"id": "C0036421",
"name": "Systemic Scleroderma",
"pos": [
84,
3
]
}
|
Using samples from 122 patients, we established 41 NSCLC PDXs [30 adenocarcinoma (AD), 11 squamous cell carcinoma (SQ)], among which the following driver mutation were observed: 13 EGFR-mutant, 4 ALK-rearrangement, 1 ROS1-rearrangement, 1 PIK3CA-mutant, 1 FGFR1-amplification, and 2 KRAS-mutant.
|
genomic_alterations
|
{
"id": 238,
"name": "ALK",
"pos": [
196,
3
]
}
|
{
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
90,
23
]
}
|
At the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA.
|
NA
|
{
"id": 4552,
"name": "MTRR",
"pos": [
309,
4
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
153,
8
]
}
|
In contrast, Treg cell population, Foxp3 levels, and plasma TGF-β1 were decreased in ACS patients compared with stable angina (SA) and NCA patients.
|
NA
|
{
"id": 4680,
"name": "CEACAM6",
"pos": [
135,
3
]
}
|
{
"id": "C0340288",
"name": "Stable angina",
"pos": [
112,
13
]
}
|
We demonstrate that this hypoxia-suppressed miR-199a plays a decisive role in limiting glycolysis in HCC cells by targeting hexokinase-2 (Hk2) and pyruvate kinase-M2 (Pkm2).
|
NA
|
{
"id": 3099,
"name": "HK2",
"pos": [
138,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
25,
7
]
}
|
The hypoxic response is controlled by a family of hypoxia-inducible transcription factors (HIFs), which are composed of an oxygen-regulated alpha subunit (HIFα) and a constitutively present beta subunit, aryl hydrocarbon receptor nuclear translocator (HIFβ/Arnt).
|
NA
|
{
"id": 405,
"name": "ARNT",
"pos": [
204,
46
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
50,
7
]
}
|
Matrix metalloproteinase-14 and secreted frizzled-related protein 4 (near a polymorphism recently associated with Dupuytren's disease) were significantly up-regulated in nodules.
|
genomic_alterations
|
{
"id": 6424,
"name": "SFRP4",
"pos": [
32,
35
]
}
|
{
"id": "C4082974",
"name": "Dupuytren's Disease",
"pos": [
114,
19
]
}
|
KRAS2 mutations were found in 43% of the goblet cell serrated polyp (GCSP) category, 13% of MVSPs, 7% of SPAPs, and 24% of SAs; in 26% of large traditional adenoma (lTAs) compared with small traditional adenomas (sTAs) (0/30; P<0.005) and in 37.3% of traditional carcinomas (TCa).
|
NA
|
{
"id": 2731,
"name": "GLDC",
"pos": [
69,
4
]
}
|
{
"id": "C0001430",
"name": "Adenoma",
"pos": [
156,
7
]
}
|
Our data suggest that CTLA4-318 C/T, +49 A/G, and CT60 A/G SNPs do not confer increased susceptibility to symptomatic GSD.
|
genomic_alterations
|
{
"id": 348120,
"name": "LINC01193",
"pos": [
50,
4
]
}
|
{
"id": "C0017495",
"name": "Gerstmann-Straussler-Scheinker Disease",
"pos": [
118,
3
]
}
|
Subgroup analysis of occupational exposure to pesticides showed an inverse association of the active genotypes of both GSTM1 and GSTT1 polymorphisms with the exposed group of RCC (P<0.00001 and P<0.00001, respectively).
|
genomic_alterations
|
{
"id": 2944,
"name": "GSTM1",
"pos": [
119,
5
]
}
|
{
"id": "C0279702",
"name": "Conventional (Clear Cell) Renal Cell Carcinoma",
"pos": [
175,
3
]
}
|
Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displayed progressive degeneration of substantia nigra pars compacta (SNpc) dopaminergic neurons and parkinsonism phenotypes of motor dysfunction.
|
NA
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
38,
5
]
}
|
{
"id": "C0521654",
"name": "Neurologic Deficits",
"pos": [
203,
17
]
}
|
The deficient adhesion of CML progenitors on human preformed stroma was restored at levels similar to that of normal bone marrow cells after treatment with IFN-alpha and/or J-spec As ODN, while the phenotypic analysis showed that the combined treatment increased significantly the expression of CD49b and CD62L on CML CD34+ cells.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
156,
9
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
14,
8
]
}
|
Since the combination of an arteriole-constricting compound 48/80 and hypotension-inducing clonidine injected prior to NMDA results in a significant protection against seizures, and since acute stimulation of adenosine A3 receptor causes both arteriolar constriction and severe hypotension, there is a possibility that the protection obtained by the acutely administered drug may result from inadequate delivery of chemoconvulsants to the brain.
|
NA
|
{
"id": 140,
"name": "ADORA3",
"pos": [
209,
21
]
}
|
{
"id": "C0020649",
"name": "Hypotension",
"pos": [
278,
11
]
}
|
The Six1 homeoprotein stimulates tumorigenesis by reactivation of cyclin A1.
|
NA
|
{
"id": 6495,
"name": "SIX1",
"pos": [
4,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
33,
13
]
}
|
Proteins involved in intercellular adhesion, such as E-cadherin and catenin, probably play an important role in metastatic processes and cellular differentiation.
|
NA
|
{
"id": 999,
"name": "CDH1",
"pos": [
53,
10
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
35,
8
]
}
|
Fluoroquinolone and Macrolide Exposure Predict Clostridium difficile Infection with the Highly Fluoroquinolone- and Macrolide-Resistant Epidemic C. difficile Strain BI/NAP1/027.
|
genomic_alterations
|
{
"id": 257397,
"name": "TAB3",
"pos": [
168,
4
]
}
|
{
"id": "C0343386",
"name": "Clostridium difficile infection",
"pos": [
47,
31
]
}
|
The patients presented here and previously with AP4M1, AP4B1, and AP4E1 mutations shared brain abnormalities including asymmetrical ventriculomegaly, thin splenium of the corpus callosum, and reduced white matter volume.
|
NA
|
{
"id": 9179,
"name": "AP4M1",
"pos": [
48,
5
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
95,
13
]
}
|
Autosomal recessive osteopetrosis (ARO, MIM 259700) is a genetically heterogeneous rare skeletal disorder characterized by failure of osteoclast resorption leading to pathologically increased bone density, bone marrow failure, and fractures.
|
NA
|
{
"id": 9788,
"name": "MTSS1",
"pos": [
40,
3
]
}
|
{
"id": "C0030312",
"name": "Pancytopenia",
"pos": [
206,
19
]
}
|
The up-regulated expression and telomerase activity of human telomerase reverse transcriptase (hTERT) are hallmarks of tumorigenesis.
|
NA
|
{
"id": 7015,
"name": "TERT",
"pos": [
61,
32
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
119,
13
]
}
|
The same figures for PNR were rs12979860 T-allele carrier state (P = 0.00008), viral load ≥ 400.000 IU/mL (P = 0.007), aspartate aminotransferase/alanine aminotransferase (P = 0.048), and serum cholesterol (P = 0.064), (AUROC = 0.869, 95% CI = 0.792-0.945).
|
NA
|
{
"id": 10002,
"name": "NR2E3",
"pos": [
21,
3
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
79,
10
]
}
|
The basic molecular defect consists of the t(14;18)(q32;q21) translocation, juxtaposing the B-cell lymphoma protein 2 gene BCL2 to the immunoglobulin heavy chain locus IGH@, and leading to the antiapoptotic BCL2 protein overproduction.
|
NA
|
{
"id": 3492,
"name": "IGH",
"pos": [
168,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
61,
13
]
}
|
DISC1 is involved in neural development directly via adhesion molecules or via its binding partners of DISC1 such as elongation protein ζ-1 (FEZ1), DISC1-binding zinc-finger protein (DBZ) and kendrin.
|
NA
|
{
"id": 27185,
"name": "DISC1",
"pos": [
149,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
54,
8
]
}
|
Tumor necrosis factor receptor-associated factor 1 (TRAF1) polymorphisms and susceptibility to autoimmune thyroid disease.
|
genomic_alterations
|
{
"id": 7185,
"name": "TRAF1",
"pos": [
52,
5
]
}
|
{
"id": "C0178468",
"name": "Autoimmune thyroid disease",
"pos": [
95,
26
]
}
|
Anti-tumor activity of gene transfer of the membrane-stable CD40L mutant into lung cancer cells.
|
genomic_alterations
|
{
"id": 959,
"name": "CD40LG",
"pos": [
60,
5
]
}
|
{
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
78,
11
]
}
|
Tumor CpG island hypermethylation, microsatellite instability, and mutations in KRAS and BRAF oncogenes were analyzed in resected specimens and stratified by age and tumor location.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
89,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
166,
5
]
}
|
In addition, overexpression of Nrdp1 augmented TMZ induced apoptosis by evaluating the degradation of BRUCE and the activation of caspase 3, while silencing of Nrdp1 reduced the sensitivity to the TMZ by inhibiting the degradation of BRUCE and the activation of caspase 3 in human glioma cells.
|
NA
|
{
"id": 57448,
"name": "BIRC6",
"pos": [
234,
5
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
281,
6
]
}
|
This study is designed to investigate the roles of Tiam1 and Rac1 in nasopharyngeal carcinoma (NPC).
|
NA
|
{
"id": 5879,
"name": "RAC1",
"pos": [
61,
4
]
}
|
{
"id": "C2931822",
"name": "Nasopharyngeal carcinoma",
"pos": [
69,
24
]
}
|
The N-terminal region of IT4-VAR19 comprising a full-length DC8 cassette as well as the single EPCR binding CIDRα1.1 domain were also produced, and their immune recognition (IgG) was assessed using plasma samples from Beninese children presenting acute mild malaria, severe malaria or cerebral malaria at the time of their admission to the clinic, and from convalescent-phase plasma collected 30 days after anti-malarial treatment.
|
NA
|
{
"id": 10544,
"name": "PROCR",
"pos": [
95,
4
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
253,
4
]
}
|
Our findings propose a model that hypoxia induces EMT in RCC cells through downregulation of miR-30c, which leads to subsequent increase of Slug expression and repression of E-cadherin production, and suggest a potential application of miR-30c in RCC treatment.
|
NA
|
{
"id": 999,
"name": "CDH1",
"pos": [
174,
10
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
34,
7
]
}
|
Mutations in the <i>neurofibromin 2</i> (<i>NF2</i>) gene were among the first genetic alterations implicated in meningioma tumorigenesis, based on analysis of neurofibromatosis type 2 (NF2) patients who not only develop vestibular schwannomas but later have a high incidence of meningiomas.
|
genomic_alterations
|
{
"id": 4763,
"name": "NF1",
"pos": [
26,
13
]
}
|
{
"id": "C0278877",
"name": "Adult Meningioma",
"pos": [
137,
10
]
}
|
Lipocalin-type prostaglandin (PG) D synthase (L-PGDS) is up-regulated in oligodendrocytes (OLs) in mouse models for genetic neurological disorders including globoid cell leukodystrophy (twitcher) and GM1 and GM2 gangliosidoses and in the brain of patients with multiple sclerosis.
|
NA
|
{
"id": 5730,
"name": "PTGDS",
"pos": [
46,
6
]
}
|
{
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
261,
18
]
}
|
The inflammatory reaction was additionally assessed by white cell count, fibrinogen, interleukin-6, and C-reactive protein levels.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
104,
18
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
73,
10
]
}
|
We have studied pain-free normal Achilles tendons and chronically painful Achilles tendinosis tendons with regard to immunohistochemical expression patterns of the M(2) muscarinic acetylcholine receptor (M(2)R), choline acetyltransferase (ChAT), and vesicular acetylcholine transporter (VAChT).
|
NA
|
{
"id": 1103,
"name": "CHAT",
"pos": [
212,
25
]
}
|
{
"id": "C0030193",
"name": "Pain",
"pos": [
66,
7
]
}
|
Patients with unexplained deep fungal infections, such as PCM, should be tested for defects in the IL-12/IL-23-IFN- gamma axis.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
111,
3
]
}
|
{
"id": "C0026946",
"name": "Mycoses",
"pos": [
31,
17
]
}
|
Use of cigarette-smoking history to estimate the likelihood of mutations in epidermal growth factor receptor gene exons 19 and 21 in lung adenocarcinomas.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
76,
32
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
133,
20
]
}
|
Aberrant expression of DP4 and FAP is associated with numerous cancers, including breast and epithelial ovarian carcinoma.
|
NA
|
{
"id": 51270,
"name": "TFDP3",
"pos": [
23,
3
]
}
|
{
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
105,
28
]
}
|
Expression of ERCC1, TYMS, RRM1, TUBB3, non-muscle myosin II, myoglobin and MyoD1 in lung adenocarcinoma pleural effusions predicts survival in patients receiving platinum-based chemotherapy.
|
NA
|
{
"id": 6240,
"name": "RRM1",
"pos": [
27,
4
]
}
|
{
"id": "C0032227",
"name": "Pleural effusion disorder",
"pos": [
105,
17
]
}
|
Locus-specific multifluor FISH analysis allows physical characterization of complex chromosome abnormalities in neoplasia.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
26,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
84,
24
]
}
|
These included variants in canonical MAPK pathway effectors rarely observed in cutaneous melanomas (including an HRAS mutation, as well as a BRAF mutation resulting in duplication of threonine 599), and recurrent mutations in the tumor suppressor NF1 in 20% of cases, which represented the second-most frequently mutated gene after KIT in our series.
|
genomic_alterations
|
{
"id": 3265,
"name": "HRAS",
"pos": [
113,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
230,
5
]
}
|
Remarkably, the reduced Elmo1 expression in the 30% hypomorphs almost abolishes the pathological features of diabetic nephropathy, although it does not affect the hyperglycemia caused by the Akita mutation.
|
NA
|
{
"id": 9844,
"name": "ELMO1",
"pos": [
24,
5
]
}
|
{
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
163,
13
]
}
|
ALF was more frequent in co-infected than mono-infected patients.
|
NA
|
{
"id": 11036,
"name": "GTF2A1L",
"pos": [
0,
3
]
}
|
{
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
42,
4
]
}
|
The C-MYB locus is involved in chromosomal translocation and genomic duplications in human T-cell acute leukemia (T-ALL), the translocation defining a new T-ALL subtype in very young children.
|
NA
|
{
"id": 4602,
"name": "MYB",
"pos": [
4,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
126,
13
]
}
|
In addition, we generated several stable cell lines expressing mutant barttins to clarify the consequence of the previously reported barttin mutations in Bartter syndrome.
|
genomic_alterations
|
{
"id": 7809,
"name": "BSND",
"pos": [
133,
7
]
}
|
{
"id": "C0004775",
"name": "Bartter Disease",
"pos": [
154,
16
]
}
|
In total, 103 E. coli strains isolated from patients with acute pyelonephritis (59 uncomplicated pyelonephritis (UAP) and 44 complicated pyelonephritis (CAP)) were characterized by RFLP of the intergenic spacer region 16S-23S rRNA, the presence of three alternative sequences found in the polymorphic V6 loop of the 16S rRNA gene, the presence of the pap gene, and antibiotic susceptibility.
|
genomic_alterations
|
{
"id": 5068,
"name": "REG3A",
"pos": [
351,
3
]
}
|
{
"id": "C0520575",
"name": "Acute pyelonephritis",
"pos": [
58,
20
]
}
|
S phase fraction (SPF) evaluation, performed in 130 cases, showed significantly higher values in aneuploid than in diploid tumours (median values, 17.3% and 5.8%, respectively).
|
NA
|
{
"id": 23541,
"name": "SEC14L2",
"pos": [
18,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
97,
9
]
}
|
The SDHD region contains another gene, DPP2/TIMM8B, the homolog of which causes dystonia and deafness seen in Mohr-Tranebjaerg syndrome.
|
NA
|
{
"id": 26521,
"name": "TIMM8B",
"pos": [
44,
6
]
}
|
{
"id": "C0011053",
"name": "Deafness",
"pos": [
93,
8
]
}
|
In adult AML, FLT3 internal tandem duplications (ITDs) are more common in cases with MLL intragenic abnormalities (33%) than those with MLL translocation (8%).
|
NA
|
{
"id": 4297,
"name": "KMT2A",
"pos": [
136,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
100,
13
]
}
|
We identified a novel human long fatty acyl CoA synthetase 2 gene, ACS2, as a new ETV6 fusion partner gene in a recurrent t(5;12)(q31;p13) translocation in a patient with refractory anemia with excess blasts (RAEB) with basophilia, a patient with acute myelogenous leukemia (AML) with eosinophilia, and a patient with acute eosinophilic leukemia (AEL).
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
134,
3
]
}
|
{
"id": "C0014457",
"name": "Eosinophilia",
"pos": [
285,
12
]
}
|
Expression of FIX-IDAV in FVIII knockout mice reduced blood loss after the tail-clip assay, even in the presence of neutralizing FVIII antibodies.
|
NA
|
{
"id": 2157,
"name": "F8",
"pos": [
129,
5
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
54,
10
]
}
|
SRF, MYC, E2F1, CREB1, LEF1, TCF7, HNF1B/ HNF1A and HNF4A), our data suggest that epithelial dedifferentiation accompanied by aberrant activation and cross-talk of specific signaling pathways may be required for PKD1 cyst growth and disease progression.
|
NA
|
{
"id": 1869,
"name": "E2F1",
"pos": [
10,
4
]
}
|
{
"id": "C0010709",
"name": "Cyst",
"pos": [
217,
4
]
}
|
The spindle proteins Aurora A, BUB1B and Mad2 have been implicated as contributors to aneuploidy and carcinogenesis.
|
NA
|
{
"id": 4085,
"name": "MAD2L1",
"pos": [
41,
4
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
86,
10
]
}
|
Future studies should examine the potential roles of HER-2/neu and other biomarkers (e.g., p21 and Rb) as markers of the risk of DCIS patients for invasive breast cancer and as molecular targets of chemoprevention in breast intraepithelial neoplasia.
|
biomarker
|
{
"id": 2064,
"name": "ERBB2",
"pos": [
53,
9
]
}
|
{
"id": "C0878500",
"name": "Intraepithelial Neoplasia",
"pos": [
224,
25
]
}
|
The assessment in haemostasis system, fibrinogen, tissue plasminogen activator (t-PA) and its inhibitor type-1, von Willebrand factor and beta-thromboglobulin (beta-TG) levels and the changes in renin-angiotensin system (RAS), by determined angiotensin converting enzyme I (ACE) activity, in patients with essential hypertension (in relation to left ventricular hypertrophy) in comparison with normotension subjects.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
274,
3
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
38,
10
]
}
|
Thus, we investigated whether variants in the genes encoding interleukin (IL)-1β, IL-2, and IL-6 and brain-derived neurotrophic factor (BDNF) Val66Met are associated with antipsychotic-induced weight gain (AIWG).
|
NA
|
{
"id": 627,
"name": "BDNF",
"pos": [
137,
4
]
}
|
{
"id": "C0043094",
"name": "Weight Gain",
"pos": [
194,
11
]
}
|
Expression of mesenchymal markers vimentin and fibronectin: the clinical significance in esophageal squamous cell carcinoma.
|
biomarker
|
{
"id": 7431,
"name": "VIM",
"pos": [
34,
8
]
}
|
{
"id": "C0279626",
"name": "Squamous cell carcinoma of esophagus",
"pos": [
89,
34
]
}
|
Analysis of cyclin-dependent kinase inhibitor genes (CDKN2A, CDKN2B, and CDKN2C) in childhood rhabdomyosarcoma.
|
NA
|
{
"id": 1033,
"name": "CDKN3",
"pos": [
12,
33
]
}
|
{
"id": "C0220611",
"name": "Childhood Rhabdomyosarcoma",
"pos": [
84,
26
]
}
|
BET Inhibition-Induced GSK3β Feedback Enhances Lymphoma Vulnerability to PI3K Inhibitors.
|
biomarker
|
{
"id": 92737,
"name": "DNER",
"pos": [
0,
3
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
47,
8
]
}
|
Oral Cancer Treatment Through the Ages: Part 1.
|
biomarker
|
{
"id": 25859,
"name": "PART1",
"pos": [
40,
6
]
}
|
{
"id": "C0153381",
"name": "Malignant neoplasm of mouth",
"pos": [
0,
11
]
}
|
Collectively, our findings suggest that TREM-1 inhibitory SCHOOL sequences may be promising alternatives for the treatment of RA.
|
biomarker
|
{
"id": 54210,
"name": "TREM1",
"pos": [
40,
6
]
}
|
{
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
126,
2
]
}
|
The MAOA-L individuals reported higher trait interpersonal hypersensitivity and showed greater dorsal anterior cingulate cortex (dACC) activity (associated with rejection-related distress) to social exclusion compared with MAOA-H individuals, consistent with a social hypersensitivity hypothesis.
|
NA
|
{
"id": 4128,
"name": "MAOA",
"pos": [
223,
4
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
268,
16
]
}
|
Here we show induction of HDAC under hypoxia and elucidate a role for HDAC in the regulation of hypoxia-induced angiogenesis.
|
NA
|
{
"id": 9734,
"name": "HDAC9",
"pos": [
70,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
96,
7
]
}
|
Overexpression of AC5 exacerbates the cardiomyopathy induced by chronic catecholamine stress by altering regulation of SIRT1/FoxO3a, MEK/ERK, and MnSOD, resulting in oxidative stress intolerance, thereby shedding light on new approaches for treatment of heart failure.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
137,
3
]
}
|
{
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
254,
13
]
}
|
Because the p53 tumor suppression pathway, including its MDM2 counterpart, is important in chemotherapy- and radiotherapy-associated effects, functional polymorphisms in the TP53 and MDM2 genes could influence the response to treatment and the prognosis following CRT.
|
genomic_alterations
|
{
"id": 4193,
"name": "MDM2",
"pos": [
183,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
16,
5
]
}
|
Plasma miR‑15b‑5p and miR‑590‑5p for distinguishing patients with bladder cancer from healthy individuals.
|
biomarker
|
{
"id": 406949,
"name": "MIR15B",
"pos": [
7,
7
]
}
|
{
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
66,
14
]
}
|
In vitro, we found that recombinant human PGRN attenuated hypoxia-induced inflammatory actions and apoptosis in proximal tubule epithelial cells, at least in part associated with a nucleotide-binding oligomerization domain containing 2 (NOD2)-mediated immune response.
|
NA
|
{
"id": 2896,
"name": "GRN",
"pos": [
42,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
58,
7
]
}
|
The G allele of the XRCC4 G-1394T may be responsible for lung carcinogenesis and maybe useful in early detection and prevention of lung cancer.
|
genomic_alterations
|
{
"id": 7518,
"name": "XRCC4",
"pos": [
20,
5
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
131,
11
]
}
|
We report a paracentric inversion (PAI) of chromosome 20p12.2p13 in an individual with AGS who also had alpha-1-antitrypsin deficiency.
|
NA
|
{
"id": 5054,
"name": "SERPINE1",
"pos": [
35,
3
]
}
|
{
"id": "C0221757",
"name": "alpha 1-Antitrypsin Deficiency",
"pos": [
104,
30
]
}
|
High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability.
|
NA
|
{
"id": 3998,
"name": "LMAN1",
"pos": [
18,
5
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
64,
26
]
}
|
The odds ratio of IL-10 -1082 AA genotype was 2.5 (95% CI, 1.0-6.4) for food allergy risk when compared with atopic control subjects (p = 0.03).
|
NA
|
{
"id": 3586,
"name": "IL10",
"pos": [
18,
5
]
}
|
{
"id": "C0016470",
"name": "Food Allergy",
"pos": [
72,
12
]
}
|
Three closely related proteins, ezrin, radixin, and moesin (ERM), which primarily act as a linker between the plasma membrane and the cytoskeleton, are involved in many cellular functions, including regulation of actin cytoskeleton, control of cell shape, adhesion and motility, and modulation of signaling pathways.
|
NA
|
{
"id": 4478,
"name": "MSN",
"pos": [
52,
6
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
256,
8
]
}
|
In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA).
|
genomic_alterations
|
{
"id": 1476,
"name": "CSTB",
"pos": [
168,
10
]
}
|
{
"id": "C0751783",
"name": "Lafora Disease",
"pos": [
64,
14
]
}
|
S100P is a member of the S100 family of calcium-binding proteins and there have been several recent reports of its overexpression in pancreatic ductal adenocarcinoma (PDAC).
|
NA
|
{
"id": 6286,
"name": "S100P",
"pos": [
0,
5
]
}
|
{
"id": "C1335302",
"name": "Pancreatic Ductal Adenocarcinoma",
"pos": [
133,
32
]
}
|
Further research is required to confirm these results and to better understand the potential role RNASEL variants may play in the etiology of sporadic prostate cancer.
|
NA
|
{
"id": 6041,
"name": "RNASEL",
"pos": [
98,
6
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
142,
8
]
}
|
The effect of interleukin 1 alpha on acetaminophen-induced hepatotoxicity.
|
therapeutic
|
{
"id": 3552,
"name": "IL1A",
"pos": [
14,
19
]
}
|
{
"id": "C0860207",
"name": "Drug-Induced Liver Disease",
"pos": [
59,
14
]
}
|
The first locus for familial combined hyperlipidemia on 1q21-23 revealed a gene encoding a transcription factor critical in lipid and glucose metabolism, USF1.
|
genomic_alterations
|
{
"id": 7391,
"name": "USF1",
"pos": [
154,
4
]
}
|
{
"id": "C0020474",
"name": "Hyperlipidemia, Familial Combined",
"pos": [
20,
32
]
}
|
Whereas P131L and W149X did not seem to affect CRC risk, C148R did show, for the first time in CRC, statistically significant differences between cases and controls [odds ratio (OR) = 1.45, 95% confidence interval (95% CI) = 1.13-1.86, P = 0.003], sporadic cases and controls (OR = 1.59, 95% CI = 1.13-2.23, P = 0.007) and familial cases and controls (OR = 1.55, 95% CI = 1.10-2.19, P = 0.01) in agreement with a hypothetical moderate increase of the cancer risk linked to the C148R ARLTS1 variant, both in sporadic and familial CRC cases.
|
NA
|
{
"id": 115761,
"name": "ARL11",
"pos": [
483,
6
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
507,
8
]
}
|
PTN is expressed at high levels in perinatal brain and promotes neurite outgrowth from embryonic brain neurons and mitogenesis in fibroblasts, suggesting that it may play an important role in the development of the nervous system.
|
NA
|
{
"id": 5764,
"name": "PTN",
"pos": [
0,
3
]
}
|
{
"id": "C0422837",
"name": "Neurological observations",
"pos": [
215,
14
]
}
|
These results indicate that the effect of selenium improving insulin sensitivity may be related to phosphatidylinositol PI3K signalling pathway.
|
NA
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
120,
4
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
61,
19
]
}
|
Together, these results show that TLR4-mediated p62 autophagic impairment plays an important role in the occurrence and development of neuropathic pain.
|
biomarker
|
{
"id": 8878,
"name": "SQSTM1",
"pos": [
48,
3
]
}
|
{
"id": "C0027796",
"name": "Neuralgia",
"pos": [
135,
16
]
}
|
Here, we propose a hypothesis whereby painful neuropathy is not a complication of diabetes, but rather occurs as a result of mutations that, in parallel, confer vulnerability to injury in pancreatic β cells and pain-signaling dorsal root ganglion (DRG) neurons.
|
NA
|
{
"id": 4733,
"name": "DRG1",
"pos": [
248,
3
]
}
|
{
"id": "C0442874",
"name": "Neuropathy",
"pos": [
46,
10
]
}
|
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