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dict | t
dict |
|---|---|---|---|
Variation at the rs560887 locus of G6PC2 is associated with worse glycated haemoglobin levels in individuals with GCK mutations; GG homozygotes are more likely to meet diagnostic criteria for diabetes based on HbA(1c) level.
|
genomic_alterations
|
{
"id": 57818,
"name": "G6PC2",
"pos": [
35,
5
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
192,
8
]
}
|
Protein restriction mitigated the decline in creatinine clearance, ameliorated proteinuria, hypoalbuminemia, hypertension, and hypercholesterolemia, lowered plasma VLDL, and improved plasma postheparin LPL activity, hepatic lipase activity, LPL, and VLDL receptor proteins in skeletal muscle and adipose tissue.
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
241,
3
]
}
|
{
"id": "C0020443",
"name": "Hypercholesterolemia",
"pos": [
127,
20
]
}
|
The hypothesis that puerperal affective psychosis (PAP) is genetically related to manic-depressive disorder was tested by comparing the morbidity risks for puerperal and non-puerperal affective disorders in the relatives of 17 PAP subjects and 20 parous manic-depressives (PMD) with no history of puerperal illness.
|
NA
|
{
"id": 55,
"name": "ACP3",
"pos": [
227,
3
]
}
|
{
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
88,
19
]
}
|
Additionally, ZD55-VEGI-251 infection leads to a much more severe cytopathic effect than control viruses on several human cancer cell lines, including cervical cancer cell line HeLa, hepatoma cell line SMMC-7721 and colorectal cancer cell line SW620.
|
NA
|
{
"id": 9966,
"name": "TNFSF15",
"pos": [
19,
4
]
}
|
{
"id": "C4048328",
"name": "cervical cancer",
"pos": [
151,
15
]
}
|
Oncogenic activations by mutations in key cancer genes such as EGFR and KRAS are frequently associated with human cancers.
|
genomic_alterations
|
{
"id": 3845,
"name": "KRAS",
"pos": [
72,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
42,
6
]
}
|
TSA treatment did not alter the DNA-binding activity of Sp1 toward the P-Rex1 promoter; however, it facilitated the dissociation of the repressive HDAC1 and HDAC2 from the Sp1 binding region.
|
NA
|
{
"id": 6667,
"name": "SP1",
"pos": [
172,
3
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
116,
12
]
}
|
Given that p38 inhibitors are in clinical use for inflammatory disorders, GALR2/p38-mediated cytokine secretion may be an excellent target for new adjuvant therapy in SCCHN.
|
biomarker
|
{
"id": 1432,
"name": "MAPK14",
"pos": [
11,
3
]
}
|
{
"id": "C1168401",
"name": "Squamous cell carcinoma of the head and neck",
"pos": [
167,
5
]
}
|
CG reduced proteinuria (49 +/- 3%), enhanced Na(+) (124 +/- 35%) and creatinine excretion (92 +/- 25%), markedly diminished tubular necrosis, and reduced ARF-induced increase in AII (40 +/- 3%) and TxA(2) (39 +/- 2%) production, the attending increase in vasoconstriction to AII (36 +/- 2%) and U46619 (50 +/- 11%), and the increase in angiotensin receptor-1 (AT(1)) (23 +/- 3%) or thromboxane prostaglandin (TP) receptor (13 +/- 1%).
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
154,
3
]
}
|
{
"id": "C1720775",
"name": "Renal tubular necrosis",
"pos": [
124,
16
]
}
|
This study was performed to evaluate the methylation status of p16INK4a and p14ARF genes, as well as its association with p16 and p53 expression, microsatellite instability (MI) status, and various clinicopathologic parameters in sporadic colorectal cancer.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
122,
3
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
146,
26
]
}
|
This study was done to investigate the contribution of the INK4a-ARF locus in tumorigenesis of angiosarcoma of the liver.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
65,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
78,
13
]
}
|
One such gene, encoding protein 4.1B, is downregulated in the metastatic sarcoma populations.
|
NA
|
{
"id": 23136,
"name": "EPB41L3",
"pos": [
32,
4
]
}
|
{
"id": "C0748505",
"name": "Sarcoma, metastatic",
"pos": [
62,
18
]
}
|
Western blot analyses were negative for cleaved PARP in lysates from CD44(sol) cells, suggesting resistance to apoptosis.
|
NA
|
{
"id": 142,
"name": "PARP1",
"pos": [
48,
4
]
}
|
{
"id": "C4505222",
"name": "Sleep Onset Latency",
"pos": [
74,
3
]
}
|
Thrombolysis with intravenous rtPA in a series of 100 cases of acute carotid territory stroke: determination of etiological, topographic, and radiological outcome factors.
|
therapeutic
|
{
"id": 5327,
"name": "PLAT",
"pos": [
31,
3
]
}
|
{
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
87,
6
]
}
|
Importantly, in this group of patients, high EZH2 was an independent predictor of distant metastasis up to 15 years after primary carcinoma diagnosis (hazard ratio 6.58, 95% CI: 1.40-30.89, P = 0.016) providing survival information above and beyond currently used prognosticators.
|
NA
|
{
"id": 2146,
"name": "EZH2",
"pos": [
45,
4
]
}
|
{
"id": "C1335475",
"name": "Primary Carcinoma",
"pos": [
122,
17
]
}
|
High-grade B cell lymphoma with MYC and BCL2 rearrangements (double hit) has a poor prognosis with standard R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone).
|
genomic_alterations
|
{
"id": 596,
"name": "BCL2",
"pos": [
40,
4
]
}
|
{
"id": "C0456863",
"name": "High grade B-cell lymphoma",
"pos": [
0,
26
]
}
|
In the current study, we assessed expression of autophagy related gene 5 (ATG5) and three ATG5-associated long non-coding RNAs (lncRNAs Chast, HULC and DICER1-AS1) in the peripheral blood of patients with premature CAD and healthy subjects.
|
biomarker
|
{
"id": 728655,
"name": "HULC",
"pos": [
143,
4
]
}
|
{
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
215,
3
]
}
|
It is characterized by severe circulating monocytopenia, NK- and B-lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to myelodysplasia/acute myelogenous leukemia.
|
NA
|
{
"id": 4082,
"name": "MARCKS",
"pos": [
125,
3
]
}
|
{
"id": "C0427544",
"name": "Monocytopenia",
"pos": [
42,
13
]
}
|
In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease.
|
genomic_alterations
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
38,
5
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
116,
19
]
}
|
HO-1 gene may be a useful marker for macrophage infiltration as well as neovascularization in human gliomas.
|
NA
|
{
"id": 3162,
"name": "HMOX1",
"pos": [
0,
4
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
72,
18
]
}
|
Genome-wide association has been reported between the NCAN gene and bipolar disorder.
|
genomic_alterations
|
{
"id": 1463,
"name": "NCAN",
"pos": [
54,
4
]
}
|
{
"id": "C0005586",
"name": "Bipolar Disorder",
"pos": [
68,
16
]
}
|
The -308 TNF gene polymorphism may have a slight influence on the behaviour of CD.
|
genomic_alterations
|
{
"id": 7124,
"name": "TNF",
"pos": [
9,
3
]
}
|
{
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
79,
2
]
}
|
Hybridization identified 11 hypoxia-induced genes: 1 involved with cell cycle control (CCNG2), 6 in stress response (IGFBP3, SLC2A3, GSTT2, FOS, DDIT3, AKR1C3), and 2 newly connected genes (Depp, AKAP4).
|
NA
|
{
"id": 6515,
"name": "SLC2A3",
"pos": [
125,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
28,
7
]
}
|
Specifically, c-MYC enhanced brain metastasis by facilitating the following processes within the brain microenvironment: (i) invasive growth of BrMs, (ii) macrophage infiltration, and (iii) GAP junction formation between BrMs and astrocytes by upregulating connexin 43 (GJA1/Cx43).
|
biomarker
|
{
"id": 2697,
"name": "GJA1",
"pos": [
275,
4
]
}
|
{
"id": "C0220650",
"name": "Metastatic malignant neoplasm to brain",
"pos": [
29,
16
]
}
|
The most remarkable changes were observed in the intermediate group, in which MMP-2 activity peaked and tissue expression of mRNAs for MMP-2 and MT1-MMP were observed in spindle-shaped cells in the neointima, organizing thrombus, and the adventitia.
|
NA
|
{
"id": 4323,
"name": "MMP14",
"pos": [
145,
7
]
}
|
{
"id": "C2936380",
"name": "Neointima",
"pos": [
198,
9
]
}
|
Herein, we show that extracellular HSP90α favors cell migration of glioblastoma U87 cells.
|
NA
|
{
"id": 3324,
"name": "HSP90AA2P",
"pos": [
35,
6
]
}
|
{
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
67,
12
]
}
|
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.
|
genomic_alterations
|
{
"id": 338,
"name": "APOB",
"pos": [
125,
4
]
}
|
{
"id": "C0020597",
"name": "Hypobetalipoproteinemias",
"pos": [
84,
32
]
}
|
RNA helicase encoded by melanoma differentiation-associated gene 5 is a major autoantigen in patients with clinically amyopathic dermatomyositis: Association with rapidly progressive interstitial lung disease.
|
NA
|
{
"id": 64135,
"name": "IFIH1",
"pos": [
24,
42
]
}
|
{
"id": "C1838681",
"name": "Rapidly progressive",
"pos": [
163,
19
]
}
|
Taken together, our results indicated that ADAM17 is upregulated by hypoxia and contributes to hypoxia-induced cisplatin resistance via EGFR/PI3K/Akt pathway.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
136,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
68,
7
]
}
|
Here, we report the identification of a novel, disease-causing ACTN4 mutation (p.G195D, de novo) in a sporadic case of childhood FSGS using next generation sequencing.
|
NA
|
{
"id": 81,
"name": "ACTN4",
"pos": [
63,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
102,
8
]
}
|
Moreover, NGF protects cells from death during starvation.
|
NA
|
{
"id": 4803,
"name": "NGF",
"pos": [
10,
3
]
}
|
{
"id": "C0038187",
"name": "Starvation",
"pos": [
47,
10
]
}
|
Serum histidine, HOMA-IR, BMI, waist circumference, fat mass, serum NEFA, and variables connected to inflammation and oxidative stress were measured at baseline and 12 weeks.
|
NA
|
{
"id": 4925,
"name": "NUCB2",
"pos": [
68,
4
]
}
|
{
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
31,
19
]
}
|
In the present study, we analyzed the effects of HSE in metastatic breast cancer.
|
biomarker
|
{
"id": 8630,
"name": "HSD17B6",
"pos": [
49,
3
]
}
|
{
"id": "C0278488",
"name": "Carcinoma breast stage IV",
"pos": [
56,
24
]
}
|
Expression of two major hypoxia-induced proteins, the hypoxia-inducible factor-1α (HIF1A) and the carbonic anhydrase IX (CA9), examined within a large cohort including 61 familial (3 BRCA1, 28 BRCA2, 30 BRCAX) and 225 sporadic male breast cancers showed that 31% of all male breast cancers expressed either HIF1A (25%) and/or CA9 (8%) in the combined cohort.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
183,
5
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
24,
7
]
}
|
Age-related formaldehyde interferes with DNA methyltransferase function, causing memory loss in Alzheimer's disease.
|
NA
|
{
"id": 1786,
"name": "DNMT1",
"pos": [
41,
21
]
}
|
{
"id": "C0002622",
"name": "Amnesia",
"pos": [
81,
11
]
}
|
Patients presented mainly with urinary tract infections, polyuria, and hematuria at a median age of 3.5 yr. At the time of diagnosis, the GFR was already decreased to <60 ml/min per 1.73 m(2) for 11 patients.
|
NA
|
{
"id": 9771,
"name": "RAPGEF5",
"pos": [
138,
3
]
}
|
{
"id": "C0032617",
"name": "Polyuria",
"pos": [
57,
8
]
}
|
Although virus infection activated PI3 kinase, as indicated by AKT activation, its blockage did not inhibit JNK activation or IRF-3 activation.
|
NA
|
{
"id": 207,
"name": "AKT1",
"pos": [
63,
3
]
}
|
{
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
9,
15
]
}
|
In contrast, a specific shut off in mitogen-activated protein kinase kinase 4 (SEK1/MKK4)/stress-activated protein kinase (SAPK) axis was exclusively observed in PSP, whereas a specific phosphoinositide-dependent protein kinase 1 (PDK1) inactivation was observed in FTLD-TDP43.
|
biomarker
|
{
"id": 5163,
"name": "PDK1",
"pos": [
231,
4
]
}
|
{
"id": "C0038868",
"name": "Progressive supranuclear palsy",
"pos": [
162,
3
]
}
|
We report the fusion of HMGA1 to the intergenic region between LPP and TPRG1 in a lipoma.
|
biomarker
|
{
"id": 3159,
"name": "HMGA1",
"pos": [
24,
5
]
}
|
{
"id": "C3489413",
"name": "Lipomatosis, Multiple",
"pos": [
82,
6
]
}
|
Nonspecific AHR was measured in 154 asymptomatic, young, healthy adults using a continuous methacholine inhalation method.
|
NA
|
{
"id": 196,
"name": "AHR",
"pos": [
12,
3
]
}
|
{
"id": "C0004048",
"name": "Inspiration function",
"pos": [
104,
10
]
}
|
The hypersensitivity of CS cells to CPT correlates closely with the much higher level of DSBs in nascent DNA than in normal cells.
|
NA
|
{
"id": 56994,
"name": "CHPT1",
"pos": [
36,
3
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
4,
16
]
}
|
A double-blind, placebo-controlled, randomized clinical trial was conducted in 30 subjects receiving SRP alone or combined with MTZ (400 mg 3 x per day) and AMX (500 mg 3 x per day) for 14 days.
|
NA
|
{
"id": 90226,
"name": "UCN2",
"pos": [
102,
3
]
}
|
{
"id": "C0456909",
"name": "Blindness",
"pos": [
10,
5
]
}
|
In contrast, significant advances have been made in identifying the genes that cause monogenic bone diseases, and polymorphic variation is some of these genes has been found to contribute to the genetic regulation of BMD in the normal population.
|
biomarker
|
{
"id": 1756,
"name": "DMD",
"pos": [
217,
3
]
}
|
{
"id": "C0005940",
"name": "Bone Diseases",
"pos": [
95,
13
]
}
|
In vivo xenografts of retinoblastoma-deficient tumors exhibited diminished tumor mass, lower PSA kinetics, and decreased tumor growth after treatment with ionizing radiation (P < 0.05).
|
NA
|
{
"id": 354,
"name": "KLK3",
"pos": [
93,
3
]
}
|
{
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
22,
14
]
}
|
Using a candidate gene approach, we genotyped 209 patients with alcoholism, 108 patients with major depression, 32 patients with panic disorder, 50 patients with generalized anxiety disorder, 58 patients with narcolepsy and 74 healthy volunteers for the HTR1B 861G>C polymorphism.
|
NA
|
{
"id": 3351,
"name": "HTR1B",
"pos": [
254,
5
]
}
|
{
"id": "C0027404",
"name": "Narcolepsy",
"pos": [
209,
10
]
}
|
NF-kappaB activity is associated with bone loss and B cell growth as well as chemotherapy resistance.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
0,
9
]
}
|
{
"id": "C0029453",
"name": "Osteopenia",
"pos": [
38,
9
]
}
|
Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.
|
NA
|
{
"id": 2157,
"name": "F8",
"pos": [
49,
11
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
106,
4
]
}
|
In a multiple linear regression model (R² = 63.6%; P = 0.03), neonatal ADRB2 genotypes (p.16Arg/Arg and p.27Gln/Glu) and lower neonatal birth weight predicted lower UA lactate concentrations.
|
NA
|
{
"id": 154,
"name": "ADRB2",
"pos": [
71,
5
]
}
|
{
"id": "C0005612",
"name": "Birth Weight",
"pos": [
136,
12
]
}
|
In body temperature studies, 5 mg/kg VN2222 produced a mild hypothermic effect in mice, suggesting a weak agonist activity at presynaptic 5-HT1A receptors; much lower doses (0.01-0.5 mg/kg) partially antagonized the hypothermia induced by 8-hydroxy-2-(di-n-propylamino)tetralin (8-OH-DPAT) possibly through 5-HT transporter blockade.
|
NA
|
{
"id": 3350,
"name": "HTR1A",
"pos": [
138,
6
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
55,
4
]
}
|
Together, our data implicate C9 expansion-mediated sequestration of hnRNP H as a significant contributor to neurodegeneration in C9 ALS/FTD.
|
biomarker
|
{
"id": 3188,
"name": "HNRNPH2",
"pos": [
68,
7
]
}
|
{
"id": "C0338451",
"name": "Frontotemporal dementia",
"pos": [
136,
3
]
}
|
In the cross-trait meta-analyses, we identified (1) 14 genetic loci (including NEGR1, CADM2, PMAIP1, PARK2) that are associated with both obesity and SSRIs treatment response; (2) five genetic loci (LINC01412, PHACTR1, CDKN2B, ATXN2, KCNE2) with effects on CAD and SSRIs treatment response.
|
genomic_alterations
|
{
"id": 5071,
"name": "PRKN",
"pos": [
101,
5
]
}
|
{
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
257,
3
]
}
|
We provide evidence to support a role for BRCA1 mRNA expression as a predictive marker of survival in sporadic epithelial ovarian cancer.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
42,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
102,
8
]
}
|
This study was undertaken to evaluate ALK receptor protein expression in a large series of RMS; to correlate these results with fusion status; and to investigate the possibility of 2p23 amplification or translocation using fluorescence in situ hybridization (FISH).
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
259,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
203,
13
]
}
|
Cytogenetic analysis using high-resolution banding techniques and fluorescence in situ hybridization (FISH) revealed interstitial chromosome deletion 9q22.32-q33.2 involving the PTCH gene as a secondary breakage event to a chromosome translocation t(9;17)(q34.1;p11.2)mat.
|
NA
|
{
"id": 8909,
"name": "ENDOU",
"pos": [
262,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
223,
24
]
}
|
Polymorphism in vitamin D receptor is associated with bone mineral density in patients with adolescent idiopathic scoliosis.
|
genomic_alterations
|
{
"id": 7421,
"name": "VDR",
"pos": [
16,
18
]
}
|
{
"id": "C0410702",
"name": "Adolescent idiopathic scoliosis",
"pos": [
92,
31
]
}
|
In this observational analytical study, we recruited patients with leukoencephalopathies characterised by MRI signal abnormalities in the posterior limbs of the internal capsules, midbrain cerebral peduncles, and middle cerebellar peduncles from our databases of patients with leukoencephalopathies of unknown origin.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
106,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
117,
13
]
}
|
Cooperative interactions between DSCAM and COL6A2 were also observed in the H9C2 cardiac cell line and transcriptional analysis of this interaction points to genes involved in adhesion and cardiac hypertrophy.
|
NA
|
{
"id": 1826,
"name": "DSCAM",
"pos": [
33,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
176,
8
]
}
|
Using these two long-distance PCR-based approaches, we cloned junctional areas of BCL6 translocations from a total of 58 cases of B-cell tumors.
|
genomic_alterations
|
{
"id": 604,
"name": "BCL6",
"pos": [
82,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
137,
6
]
}
|
Breast cancer risk associated with AURKA 91T -->A polymorphism in relation to BRCA mutations.
|
genomic_alterations
|
{
"id": 6790,
"name": "AURKA",
"pos": [
35,
5
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
0,
13
]
}
|
BACKGROUND/AIMS: Primary glomerulonephritis (PGN) is the most common reason inducing end stage renal disease in China, however, its pathogenesis remains unclear.
|
NA
|
{
"id": 6687,
"name": "SPG7",
"pos": [
45,
3
]
}
|
{
"id": "C0022661",
"name": "Kidney Failure, Chronic",
"pos": [
85,
23
]
}
|
Under transverse aorta constriction (TAC), Gab1-cKO mice rapidly developed decompensated DCM and heart failure, whereas Gab1 wild-type littermates exhibited adaptive left ventricular hypertrophy without changes in cardiac function.
|
genomic_alterations
|
{
"id": 2549,
"name": "GAB1",
"pos": [
43,
4
]
}
|
{
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
97,
13
]
}
|
Human pancreatic cancer cells and newborn dorsal root ganglions (DRG) were used to determine the expression of SP or NK-1R in pancreatic cancer cells and DRGs cells by QT-PCR and Western blotting.
|
NA
|
{
"id": 4733,
"name": "DRG1",
"pos": [
65,
3
]
}
|
{
"id": "C1258666",
"name": "Myxoid cyst",
"pos": [
54,
9
]
}
|
Hyperglycemia (diabetes or galactosemia) increased H4K20me3, acetyl H3K9, and NF-κB p65 at the promoter and enhancer of retinal sod2, upregulated protein and gene expression of SUV420h2, and increased the interactions of acetyl H3K9 and NF-κB p65 to H4K20me3.
|
NA
|
{
"id": 84787,
"name": "KMT5C",
"pos": [
177,
8
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
15,
8
]
}
|
Gene amplification or structural alteration of different erbB genes exerts a transforming effect in a variety of human neoplasms.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
57,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
119,
9
]
}
|
Further understanding of the CXCR4/CXCL12 pathway in SCLC and NSCLC may provide a rationale for innovative research on the CXCR4 receptor as a potential novel therapeutic target in lung cancer.
|
biomarker
|
{
"id": 6387,
"name": "CXCL12",
"pos": [
35,
6
]
}
|
{
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
53,
4
]
}
|
In an analysis of 121 colon cancer patients without synchronous liver metastasis, patients with CAT1-low colon cancer had significantly shorter liver metastasis-free survival (P = 0.0258) but not overall survival or disease-free survival.
|
NA
|
{
"id": 1384,
"name": "CRAT",
"pos": [
96,
4
]
}
|
{
"id": "C0494165",
"name": "Secondary malignant neoplasm of liver",
"pos": [
144,
16
]
}
|
Substantial evidence shows that spinal melanocortin 4 receptor (MC4R) may participate in regulation of central sensitization and chronic pain condition induced by peripheral nerve injury.
|
NA
|
{
"id": 4160,
"name": "MC4R",
"pos": [
64,
4
]
}
|
{
"id": "C0150055",
"name": "Chronic pain",
"pos": [
129,
12
]
}
|
Association results in humans indicate pleiotropic effects for SNPs within or surrounding CNTN4 on obesity, lipids and blood pressure traits and for SNPs near IL5RA, TRNT1, CRBN, and LRRN1 on central obesity and blood pressure.
|
NA
|
{
"id": 55687,
"name": "TRMU",
"pos": [
166,
5
]
}
|
{
"id": "C0311277",
"name": "Obesity, Abdominal",
"pos": [
192,
15
]
}
|
These results suggest that an alteration of Bcl-xL expression levels by somatic expression changes in the NF1 locus may contribute to the malignant development of benign tumor tissues or normal tissues to MPNSTs.
|
NA
|
{
"id": 598,
"name": "BCL2L1",
"pos": [
44,
6
]
}
|
{
"id": "C0086692",
"name": "Benign Neoplasm",
"pos": [
163,
12
]
}
|
The association of PTGS2 rs5275 with nonserous ovarian carcinoma and possible effect modification by NSAID use needs further validation, preferably in prospective studies.
|
genomic_alterations
|
{
"id": 5743,
"name": "PTGS2",
"pos": [
19,
5
]
}
|
{
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
47,
17
]
}
|
Notably, in mice deficient in IL-5/eotaxin the ability of CD4(+) T helper cell (Th)2 lymphocytes to produce IL-13, a critical regulator of airways smooth muscle constriction and obstruction, was significantly impaired.
|
NA
|
{
"id": 3596,
"name": "IL13",
"pos": [
108,
5
]
}
|
{
"id": "C1261287",
"name": "Stenosis",
"pos": [
161,
12
]
}
|
We report here that the resistance of lung SqCC harboring EGFR mutations to EGFR tyrosine kinase inhibitors (EGFR-TKIs) was due to the activation of BMP-BMPR-Smad1/5-p70S6K.
|
genomic_alterations
|
{
"id": 4086,
"name": "SMAD1",
"pos": [
158,
5
]
}
|
{
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
43,
4
]
}
|
CXCL16, which functions as a membrane-bound molecule and soluble chemokine to induce adhesion and migration of CXCR6(+) cells, was detected on gallbladder epithelia, and CXCR6(+)/CD8(+) T cells and CXCR6(+)/CD68(+) macrophages were also accumulated.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
179,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
85,
8
]
}
|
Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia, is a life-threatening metabolic disease caused by inherited deficiency of the glycine cleavage system (GCS).
|
NA
|
{
"id": 2729,
"name": "GCLC",
"pos": [
175,
3
]
}
|
{
"id": "C0025517",
"name": "Metabolic Diseases",
"pos": [
94,
17
]
}
|
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
|
NA
|
{
"id": 6607,
"name": "SMN2",
"pos": [
19,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
46,
8
]
}
|
These results indicate the existence of functional AP-2 sites in the promoter region of apoE that could contribute to the complex regulation of this gene in developmental, degenerative, and regenerative processess of the nervous system.
|
NA
|
{
"id": 7020,
"name": "TFAP2A",
"pos": [
51,
4
]
}
|
{
"id": "C0422837",
"name": "Neurological observations",
"pos": [
221,
14
]
}
|
High IGF activities are associated with cancer risk and tumor progression.Klotho's role in cancer is unknown.
|
genomic_alterations
|
{
"id": 9365,
"name": "KL",
"pos": [
74,
6
]
}
|
{
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
56,
17
]
}
|
Recipients with renal diseases with potential to recur (membranous glomerulonephritis (MGN), membrano-proliferative glomerulonephritis (MPGN), focal and segmental glomerulonephritis (FSGN), polyarteritis nodosa (PAN), rapid progressive glomerulonephritis (RPGN), Henoch-Schoenlein purpura (HSP), diabetes mellitus (DM), interstitial nephritis, systemic lupus erythematosus (SLE) and chronic glomerulonephritis (CGN)) faired worse as a group than recipients with hypertensive nephrosclerosis (HTN), autosomal dominant polycystic kidney disease (ADPKD), Alport's, reflux or congenital dysplasia (68 vs. 96% at 10 yr, p = 0.0009).
|
NA
|
{
"id": 57530,
"name": "CGN",
"pos": [
411,
3
]
}
|
{
"id": "C0034150",
"name": "Purpura",
"pos": [
281,
7
]
}
|
Multiple resistance mutations at differing allele frequencies including novel EGFR solvent front mutations can emerge in a single patient with progression on osimertinib potentially due to tumor hetereogeneity and definitely present a significant therapeutic and drug development challenge.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
78,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
189,
5
]
}
|
Mutations in electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH) are the molecular basis of multiple acyl-CoA dehydrogenation deficiency (MADD), an autosomal recessively inherited and clinically heterogeneous disease that has been divided into three clinical forms: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III).
|
NA
|
{
"id": 8463,
"name": "TEAD2",
"pos": [
45,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
369,
20
]
}
|
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.33, FOXE1), rs944289 (14q13.3, PTCSC3), rs2439302 (8p12, NRG1), rs1867277 (9q22.23, FOXE1), and rs6983267 (8q24, POU5F1B)-were genotyped in 959 cases of histologically verified FA, 535 papillary thyroid carcinomas (PTC), and 2766 population controls.
|
genomic_alterations
|
{
"id": 5462,
"name": "POU5F1B",
"pos": [
212,
7
]
}
|
{
"id": "C0007115",
"name": "Malignant neoplasm of thyroid",
"pos": [
56,
14
]
}
|
Mutations in the EBP gene cause X-linked dominant chondrodysplasia punctata (CDPX2) which can be considered as a phenocopy of warfarin embryopathy.
|
genomic_alterations
|
{
"id": 10682,
"name": "EBP",
"pos": [
17,
3
]
}
|
{
"id": "C0265374",
"name": "Warfarin syndrome",
"pos": [
126,
20
]
}
|
CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.
|
genomic_alterations
|
{
"id": 773,
"name": "CACNA1A",
"pos": [
0,
7
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
128,
7
]
}
|
We conclude that the analysis of polymorphisms in genes coding for four nicotinic acetylcholine receptor subunits (CHRNA4, CHRNA5, CHRNB2 and CHRNB3) and several smoking-related phenotypes revealed no statistically significant association.
|
NA
|
{
"id": 1141,
"name": "CHRNB2",
"pos": [
131,
6
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
162,
7
]
}
|
Interphase fluorescence in situ hybridization (FISH) and real-time quantitative reverse transcription PCR (RQ-PCR) are the common methods for monitoring minimal residual disease (MRD) in chronic myeloid leukemia (CML) patients.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
47,
4
]
}
|
{
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
187,
24
]
}
|
Our findings support the hypothesis that anxiety- and depression-related personality traits are associated with the BDNF polymorphism although the explained variance is low.
|
NA
|
{
"id": 627,
"name": "BDNF",
"pos": [
116,
4
]
}
|
{
"id": "C0233849",
"name": "Personality Traits",
"pos": [
73,
18
]
}
|
For example, in astrocytoma the frequency of gains culminated at 7p12, 8q24.1, and 12q13-q15 (the loci of EGF-R, C-MYC and CDK4, respectively) and losses at 9p21 (the locus of p15 and p16) and 10q23.3 where PTEN resides.
|
genomic_alterations
|
{
"id": 10573,
"name": "MRPL28",
"pos": [
176,
3
]
}
|
{
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
16,
11
]
}
|
We analyzed the sheep ApoE gene to determine whether any association between the sheep ApoE genotype and the sheep prion disease, scrapie, existed.
|
NA
|
{
"id": 348,
"name": "APOE",
"pos": [
22,
9
]
}
|
{
"id": "C0036457",
"name": "Scrapie",
"pos": [
130,
7
]
}
|
Cyclin K and cyclin D1b are oncogenic in myeloma cells.
|
NA
|
{
"id": 8812,
"name": "CCNK",
"pos": [
0,
8
]
}
|
{
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
41,
7
]
}
|
IL-10 promotes tumor aggressiveness via upregulation of CIP2A transcription in lung adenocarcinoma.
|
NA
|
{
"id": 3586,
"name": "IL10",
"pos": [
0,
5
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
21,
14
]
}
|
In mutation analysis of nine karyotypically normal patients given diagnoses of the C or C-like syndrome, we identified a missense mutation (839C-->T, T280M) in exon 6 of the CD96 gene in one patient with the C-like syndrome.
|
genomic_alterations
|
{
"id": 10225,
"name": "CD96",
"pos": [
177,
4
]
}
|
{
"id": "C0796232",
"name": "Bohring syndrome",
"pos": [
211,
15
]
}
|
In conclusion, diploid carcinomas and their metastases revealed more constancy of the DI and the percentage of SPF than aneuploid carcinomas.
|
NA
|
{
"id": 23541,
"name": "SEC14L2",
"pos": [
111,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
120,
9
]
}
|
Although newborn screening programs facilitate presymptomatic detection and treatment and also detect asymptomatic variants, uncertainties about potential long-term hazards of mild to moderate elevations of MMA create concern.
|
NA
|
{
"id": 23531,
"name": "MMD",
"pos": [
207,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
102,
12
]
}
|
IL-8 levels were variable in the drain dialysate at the different episodes of peritonitis, even in the same patient.
|
NA
|
{
"id": 3576,
"name": "CXCL8",
"pos": [
0,
4
]
}
|
{
"id": "C0031154",
"name": "Peritonitis",
"pos": [
78,
11
]
}
|
We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827).
|
NA
|
{
"id": 28,
"name": "ABO",
"pos": [
281,
3
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
319,
12
]
}
|
These results indicate that the repressive effect of HIF-2α on the ATM/Chk-2 pathway leads to genomic instability, which is involved in arsenite-accelerated, BaP-induced malignant transformation of HBE cells.
|
biomarker
|
{
"id": 472,
"name": "ATM",
"pos": [
67,
3
]
}
|
{
"id": "C1608408",
"name": "Malignant transformation",
"pos": [
170,
24
]
}
|
The purpose of this study was to evaluate whether patients with severe FXI deficiency are protected against acute myocardial infarction (AMI).
|
NA
|
{
"id": 2160,
"name": "F11",
"pos": [
71,
3
]
}
|
{
"id": "C0155626",
"name": "Acute myocardial infarction",
"pos": [
108,
27
]
}
|
These findings suggest that BRN2 is a higher level regulator than ASCL1 and ND1 and BRN2 might be involved in aggressiveness of SCLC.
|
NA
|
{
"id": 5454,
"name": "POU3F2",
"pos": [
84,
4
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
110,
14
]
}
|
These findings may serve as a framework for future work aimed to identify the causative oncogenes in 17p11.2 ~p12, to clarify the mechanism of their amplification, and to determine their importance in osteosarcoma tumorigenesis.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
110,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
214,
13
]
}
|
A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
24,
3
]
}
|
{
"id": "C0004096",
"name": "Asthma",
"pos": [
87,
6
]
}
|
Fractalkine is induced on activated endothelial cells and promotes strong adhesion of T cells and monocytes via its receptor CX3CR1.
|
NA
|
{
"id": 1524,
"name": "CX3CR1",
"pos": [
125,
6
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
74,
8
]
}
|
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