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|---|---|---|---|
Hence, the benefit of trastuzumab could be challenged by cardiac toxicity, in lower-risk patients [T1a,b node-negative (N0) tumors] or those with increased cardiovascular risk (older women and patients with previous significant heart disease/suboptimal left ventricular ejection fraction [LVEF (<55%)], all of whom were largely excluded from the aforementioned adjuvant RCTs.
|
NA
|
{
"id": 10630,
"name": "PDPN",
"pos": [
99,
3
]
}
|
{
"id": "C0018799",
"name": "Heart Diseases",
"pos": [
228,
13
]
}
|
In conclusion, our findings indicate that (1) HSP induction protects against atrial tachycardia-induced remodeling, (2) the protective effect in HL-1 myocytes requires HSP27 induction and phosphorylation, and (3) the orally administered HSP inducer GGA protects against AF in a clinically relevant animal model.
|
NA
|
{
"id": 55600,
"name": "ITLN1",
"pos": [
145,
4
]
}
|
{
"id": "C0546959",
"name": "Atrial tachycardia",
"pos": [
77,
18
]
}
|
Also the effect of GSTT1 gene polymorphism on smoking-related CAD showed the same tendency as GSTM1 gene (OR, 2.00, CI, 1.05-3.84).
|
genomic_alterations
|
{
"id": 2952,
"name": "GSTT1",
"pos": [
19,
5
]
}
|
{
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
62,
3
]
}
|
CONCLUSIONS: Complex, protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 loss, therefore, the presence of these types of TP53 mutations in sporadic BLBCs might be a hallmark of BRCAness and a potential biomarker for sensitivity to PARP inhibition.
|
NA
|
{
"id": 142,
"name": "PARP1",
"pos": [
305,
4
]
}
|
{
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
111,
19
]
}
|
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
|
genomic_alterations
|
{
"id": 26235,
"name": "FBXL4",
"pos": [
20,
5
]
}
|
{
"id": "C3809592",
"name": "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome",
"pos": [
71,
39
]
}
|
Rats (n=60) received sham-operation (sham), 5 days hyperammonaemia-inducing diet (HD), galactosamine (GALN) induced acute liver failure (ALF), 4 weeks bile duct-ligation (BDL) induced cirrhosis, or caecal ligation and puncture (CLP), a 24h model of bacterial peritonitis.
|
NA
|
{
"id": 51083,
"name": "GAL",
"pos": [
102,
4
]
}
|
{
"id": "C0162557",
"name": "Liver Failure, Acute",
"pos": [
116,
19
]
}
|
The CXCR2(-/-) mice had significantly larger thrombi at early time points (days 2 to 8), and significantly decreased intrathrombus PMNs, monocytes, and neovascularization as compared with controls.
|
NA
|
{
"id": 3579,
"name": "CXCR2",
"pos": [
4,
5
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
152,
18
]
}
|
CCR7 (EBI1), a lymphocyte-specific G-protein-coupled receptor, was down-regulated in the CD4+ T cells of SRA and SSA non-atopic, compared to non-asthmatic non-atopic individuals.
|
NA
|
{
"id": 1236,
"name": "CCR7",
"pos": [
6,
4
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
159,
6
]
}
|
Our results suggest that proteins other than TDP-43 are binding p62 and aggregating in response to the mutation which may play a mechanistic role in neurodegeneration.
|
NA
|
{
"id": 51164,
"name": "DCTN4",
"pos": [
64,
3
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
149,
17
]
}
|
We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2.
|
genomic_alterations
|
{
"id": 51816,
"name": "ADA2",
"pos": [
122,
5
]
}
|
{
"id": "C0027947",
"name": "Neutropenia",
"pos": [
57,
11
]
}
|
At multivariate analysis, the PNPLA3 rs738409 polymorphism was confirmed to be an independent predictor of HCC occurrence (odds ratio 1.76, 95% confidence interval 1.06-2.92, P<0.05).
|
genomic_alterations
|
{
"id": 80339,
"name": "PNPLA3",
"pos": [
30,
6
]
}
|
{
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
107,
3
]
}
|
The data suggest hypoxia regulates HO-1 gene expression by a specific posttranscriptional mechanism: stabilization of mRNA.
|
NA
|
{
"id": 3162,
"name": "HMOX1",
"pos": [
35,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
17,
7
]
}
|
Pancreatitis was induced in C57BL/6J mice (control) and mice deficient in peptidylprolyl isomerase D (cyclophilin D, encoded by Ppid) by administration of L-arginine (also in rats), caerulein, bile acid, or an AP-inducing diet.
|
biomarker
|
{
"id": 5481,
"name": "PPID",
"pos": [
74,
41
]
}
|
{
"id": "C0030305",
"name": "Pancreatitis",
"pos": [
0,
12
]
}
|
Leukemic cells from two patients with Philadelphia-negative chronic myeloid leukemia (CML) were investigated: 1) Cytogenetics showed a normal 46,XY karyotype in both cases, 2) molecular studies revealed rearrangement of the M-BCR region and formation of BCR-ABL fusion mRNA with b2a2 (patient 1) or b3a2 (patient 2) configuration, and 3) fluorescence in situ hybridization (FISH) demonstrated relocation of the 5' BCR sequences from one chromosome 22 to one chromosome 9.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
374,
4
]
}
|
{
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
60,
24
]
}
|
Mdr2(-/-) mice lacking IKK2 in hepatocytes developed spontaneously a severe liver disease characterized by cholestasis, major hyperbilirubinemia and severe to end-stage fibrosis, which caused muscle wasting, loss of body weight, lethargy and early spontaneous death.
|
NA
|
{
"id": 3551,
"name": "IKBKB",
"pos": [
23,
4
]
}
|
{
"id": "C0008370",
"name": "Cholestasis",
"pos": [
107,
11
]
}
|
Knockdown of 172 individual endocytosis and actin-regulatory genes with small interfering RNAs led to the identification of 14 genes of which the contribution to EGFR endocytosis in breast cancer is until now poorly defined, including DNAJC6, GDI2, FGD6, HAX1, NECAP2 and AnxA2.
|
NA
|
{
"id": 9829,
"name": "DNAJC6",
"pos": [
235,
6
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
182,
13
]
}
|
We analyzed 63 cases of DLBCL in pediatric patients by immunohistochemistry and fluorescence in situ hybridization (FISH) and found a striking predominance of a GCB subtype, which might explain the good clinical outcome in these lymphomas.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
116,
4
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
229,
9
]
}
|
This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.
|
genomic_alterations
|
{
"id": 2261,
"name": "FGFR3",
"pos": [
56,
5
]
}
|
{
"id": "C0263641",
"name": "Epithelial hyperplasia of skin",
"pos": [
90,
21
]
}
|
Here we show that FoxO3a overexpression decreases motility, invasiveness, and anchorage-independent growth in estrogen receptor α-positive (ERα+) cancer cells while eliciting opposite effects in ERα-silenced cells and in ERα-negative (ERα-) cell lines, demonstrating that the nuclear receptor represents a crucial switch in FoxO3a control of breast cancer cell aggressiveness.
|
NA
|
{
"id": 2099,
"name": "ESR1",
"pos": [
110,
19
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
361,
14
]
}
|
Exploring the non-covalent binding behaviours of 7-hydroxyflavone and 3-hydroxyflavone with hen egg white lysozyme: Multi-spectroscopic and molecular docking perspectives.
|
biomarker
|
{
"id": 4069,
"name": "LYZ",
"pos": [
106,
8
]
}
|
{
"id": "C3266262",
"name": "Multiple Chronic Conditions",
"pos": [
116,
5
]
}
|
We performed an association analysis of single nucleotide polymorphisms (SNPs) in five genes related to the neurosteroidal pathway with emphasis on progesterone and allopregnanolone biosynthesis (steroid-5-alpha-reductase 1A (SRD5A1), aldo-keto reductase family 1 C1-C3 (AKR1C1-AKR1C3) and translocator protein 18 kDA (TSPO) with panic disorder (PD) and dimensional anxiety in two German PD samples (cases N = 522, controls N = 1,115).
|
genomic_alterations
|
{
"id": 6715,
"name": "SRD5A1",
"pos": [
226,
6
]
}
|
{
"id": "C0003469",
"name": "Anxiety Disorders",
"pos": [
366,
7
]
}
|
Ovalbumin (OVA)-induced airway inflammation induces a further increase of CD26 expression.
|
NA
|
{
"id": 1803,
"name": "DPP4",
"pos": [
74,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
31,
12
]
}
|
The aim of this study was to determine the prevalence of alpha (ESR1: c.454-397T>C and c.454-351A>G) and beta (ESR2: 1082G>A and 1730G>A) estrogen receptor gene polymorphisms in 2 Brazilian ethnic groups (Caucasian, African Brazilian) and to investigate their association with recurrent miscarriage (RM) in 75 women with a history of 3 or more consecutive pregnancy losses and 139 controls with at least 2 live births and no history of pregnancy loss.
|
NA
|
{
"id": 2099,
"name": "ESR1",
"pos": [
138,
17
]
}
|
{
"id": "C0000809",
"name": "Abortion, Habitual",
"pos": [
277,
21
]
}
|
The results showed that in the hamster model of opisthorchiasis-associated CCA, the expression of Pdgfa was increased after infection plus N-nitrosodimethylamine (NDMA) administration, reached its peak at 2 months post infection, and remained at the high level until 6 months.
|
NA
|
{
"id": 5154,
"name": "PDGFA",
"pos": [
98,
5
]
}
|
{
"id": "C0029106",
"name": "Opisthorchiasis",
"pos": [
48,
15
]
}
|
The polymorphism of MIF gene (rs755622 [-173G/C], rs1007888, and rs2096525) were genotyped by TaqMan single nucleotide polymorphism (SNP) genotyping assay in 320 patients with coronary artery disease (CAD) and 603 controls in a Chinese Kazakh population.
|
genomic_alterations
|
{
"id": 4282,
"name": "MIF",
"pos": [
20,
3
]
}
|
{
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
176,
23
]
}
|
In the present study, we clarified the relation between mutations in ACTN4 and podocin genes and sporadic FSGS.
|
NA
|
{
"id": 81,
"name": "ACTN4",
"pos": [
69,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
97,
8
]
}
|
To test the hypothesis that polymorphisms in antioxidant genes are more susceptible to sperm DNA damage and male infertility, we examined 11 single-nucleotide polymorphisms from six antioxidant genes (GPX1, CAT, PON1, NQO1, SOD2/MnSOD, and SOD3) in 580 infertility cases and 580 controls from a Chinese population-based case-control study (NJMU Infertility Study).
|
NA
|
{
"id": 5444,
"name": "PON1",
"pos": [
212,
4
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
253,
11
]
}
|
Cataract type and severity were graded according to the Lens Opacity Classification System III (LOCS III).
|
genomic_alterations
|
{
"id": 3909,
"name": "LAMA3",
"pos": [
96,
4
]
}
|
{
"id": "C0086543",
"name": "Cataract",
"pos": [
0,
8
]
}
|
Through this translocation, one of the SYT genes, SYT4 on chromosome 18, is fused to one of the SSX genes on chromosome X. SYT4-SSX1 is the most common fusion subtype, present in approximately two thirds of the cases, followed by SYT4-SSX2 and, very rarely, SYT4-SSX4.
|
NA
|
{
"id": 6759,
"name": "SSX4",
"pos": [
263,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
13,
13
]
}
|
These results define a Pin1/mutant p53 axis that conveys oncogenic signals to promote aggressiveness in human cancers.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
35,
3
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
86,
14
]
}
|
Recently, homozygosity of a low enzyme activity variant of the catechol O-methyltransferase (COMT) gene was reported to be associated with aggressive behavior in a group of schizophrenic patients.
|
NA
|
{
"id": 1312,
"name": "COMT",
"pos": [
93,
4
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
139,
19
]
}
|
NSE in serum increased when septic encephalopathy occurred, which indicated that NSE might become a marker of neural damage in septic shock.
|
NA
|
{
"id": 2026,
"name": "ENO2",
"pos": [
81,
3
]
}
|
{
"id": "C0036983",
"name": "Septic Shock",
"pos": [
127,
12
]
}
|
Epidermal growth factor receptor (EGFR) activation has been implicated in the tumorigenesis and radioresistance of many cancers, including brain tumors.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
34,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
78,
13
]
}
|
We also found ING2 translocation from the nucleus to the cytoplasm, which may bea critical event for carcinogenesis.
|
NA
|
{
"id": 3622,
"name": "ING2",
"pos": [
14,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
19,
13
]
}
|
Recently, genetic and pharmacological analysis identified the set of genes, such as epidermal growth factor receptor ligand epiregulin (EREG), cyclooxygenase-2 (COX2) and matrix metalloproteinases 1 and 2 (MMP-1 and MMP-2) that have been found to be associated with metastasis of breast cancer to lung.
|
NA
|
{
"id": 2069,
"name": "EREG",
"pos": [
136,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
280,
13
]
}
|
Variants in the DYX2 locus are associated with altered brain activation in reading-related brain regions in subjects with reading disability.
|
genomic_alterations
|
{
"id": 9856,
"name": "KIAA0319",
"pos": [
16,
4
]
}
|
{
"id": "C0476254",
"name": "Dyslexia",
"pos": [
122,
18
]
}
|
PGD for the neurogenic ataxia retinitis pigmentosa (NARP) mtDNA mutation (8993T-->G) was therefore carried out in the carrier mother of an affected child.
|
NA
|
{
"id": 4885,
"name": "NPTX2",
"pos": [
52,
4
]
}
|
{
"id": "C0007758",
"name": "Cerebellar Ataxia",
"pos": [
23,
6
]
}
|
In contrast, ASIC4 might play an important role in modulating the innate fear response to predator odor and anxious state because ASIC4-mutant mice showed increased freezing response to 2,4,5-trimethylthiazoline and elevated anxiety-like behavior in both the open-field and elevated-plus maze.
|
NA
|
{
"id": 55515,
"name": "ASIC4",
"pos": [
130,
5
]
}
|
{
"id": "C0003467",
"name": "Anxiety",
"pos": [
225,
7
]
}
|
Immunoreactivity for drebrin and MAP2 in hippocampus CA1 area decreased 7 days after ischemia.
|
NA
|
{
"id": 4133,
"name": "MAP2",
"pos": [
34,
4
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
86,
8
]
}
|
However, neither histamine nor the H4 receptor agonist JNJ 28610244 prevented fMLP-induced, Mac-1-dependent adhesion, indicating that the H4 receptor may block signals emanating from Mac-1-controlling degranulation.
|
NA
|
{
"id": 3684,
"name": "ITGAM",
"pos": [
183,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
108,
8
]
}
|
Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR.
|
biomarker
|
{
"id": 1617,
"name": "DAZ1",
"pos": [
321,
3
]
}
|
{
"id": "C0041408",
"name": "Turner Syndrome",
"pos": [
36,
15
]
}
|
There is also a concomitant translocation of beta-catenin/Armadillo to the nucleus, where it interacts with a specific sequence motif at the N terminus of Tcfs to generate a transcriptionally active complex.
|
NA
|
{
"id": 1499,
"name": "CTNNB1",
"pos": [
45,
12
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
28,
13
]
}
|
We performed a comprehensive study of all 51 exons of the LRRK2 gene in one PD patient from each of 88 multiplex PD families who had the highest family-specific multipoint lod score at the LRRK2 locus from a cohort of 430 PD families without the G2019S mutation.
|
genomic_alterations
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
58,
5
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
113,
2
]
}
|
A functional polymorphism in renalase (Glu37Asp) is associated with cardiac hypertrophy, dysfunction, and ischemia: data from the heart and soul study.
|
NA
|
{
"id": 55328,
"name": "RNLS",
"pos": [
29,
8
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
106,
8
]
}
|
Our data suggest that homozygosity for the d3-GHR polymorphism is associated with a unique GH responsiveness and a weight regulation towards a lower BMI in girls with Turner syndrome.
|
NA
|
{
"id": 2690,
"name": "GHR",
"pos": [
46,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
115,
6
]
}
|
PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia.
|
genomic_alterations
|
{
"id": 5079,
"name": "PAX5",
"pos": [
0,
4
]
}
|
{
"id": "C1961102",
"name": "Precursor Cell Lymphoblastic Leukemia Lymphoma",
"pos": [
66,
28
]
}
|
Overexpression of manganese superoxide dismutase ameliorates high-fat diet-induced insulin resistance in rat skeletal muscle.
|
therapeutic
|
{
"id": 6648,
"name": "SOD2",
"pos": [
18,
30
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
83,
18
]
}
|
Phosphatidylethanol accumulation promotes intestinal hyperplasia by inducing ZONAB-mediated cell density increase in response to chronic ethanol exposure.
|
NA
|
{
"id": 8531,
"name": "YBX3",
"pos": [
77,
5
]
}
|
{
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
53,
11
]
}
|
In addition, candidate polymorphisms of the DRD2 and DRD4 dopamine receptor genes were selected from the impulsive behavior literature.
|
genomic_alterations
|
{
"id": 1815,
"name": "DRD4",
"pos": [
53,
4
]
}
|
{
"id": "C0021125",
"name": "Impulsive Behavior",
"pos": [
105,
18
]
}
|
The present study was conducted to examine, in 179 healthy families selected from the STANISLAS cohort, the association between interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), C-reactive protein (CRP), orosomucoid, haptoglobin, cell-adhesion molecules (ICAM-1, E-, L- and P-selectin) and lipid parameter concentrations.
|
NA
|
{
"id": 6403,
"name": "SELP",
"pos": [
287,
10
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
248,
8
]
}
|
FISH or RT-PCR was performed for EWSR1 abnormalities on 8 cases.
|
NA
|
{
"id": 2130,
"name": "EWSR1",
"pos": [
33,
5
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
39,
13
]
}
|
We conclude that the MEN1 gene plays a role in the tumorigenesis of a small subgroup of melanoma.
|
NA
|
{
"id": 4221,
"name": "MEN1",
"pos": [
21,
9
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
51,
13
]
}
|
Urinary Neutrophil Gelatinase-Associated Lipocalin Is Excellent Predictor of Acute Kidney Injury in Septic Elderly Patients.
|
biomarker
|
{
"id": 3933,
"name": "LCN1",
"pos": [
8,
44
]
}
|
{
"id": "C0022660",
"name": "Kidney Failure, Acute",
"pos": [
77,
19
]
}
|
and s.c. CT26 tumors, a significant antitumor effect was observed in the metastatic brain tumors.
|
NA
|
{
"id": 168400,
"name": "DDX53",
"pos": [
9,
4
]
}
|
{
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
84,
12
]
}
|
The aim of this study was to investigate the possible influence of hemochromatosis gene mutations (HFE-C282Y and H63D) and transferrin gene C2 variant (TF-C2) on susceptibility to schizophrenia and schizoaffective disorder and/or age at first hospital admission.
|
genomic_alterations
|
{
"id": 7018,
"name": "TF",
"pos": [
123,
11
]
}
|
{
"id": "C0036337",
"name": "Schizoaffective Disorder",
"pos": [
198,
24
]
}
|
Over-activation of penile PARP pathway in diabetic rats enhances corporal apoptosis via energy depletion, suppression of Akt phosphorylation, and activation of the mitochondrial apoptotic pathway, which results in ED; these event could be prevented by treatment with 3-AB.
|
therapeutic
|
{
"id": 207,
"name": "AKT1",
"pos": [
121,
3
]
}
|
{
"id": "C0242350",
"name": "Erectile dysfunction",
"pos": [
214,
2
]
}
|
TP53 hot spot mutations in ovarian cancer: selective resistance to microtubule stabilizers in vitro and differential survival outcomes from The Cancer Genome Atlas.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
0,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
144,
6
]
}
|
Semiquantitative and real-time quantitative RT-PCR together with Western blotting showed increased expression levels of both mRNA and proteins for HER2 and HER3 in PC3 and androgen-dependent LNCaP prostate cancer cells as compared to non-neoplastic RWPE-1 cells.
|
NA
|
{
"id": 7832,
"name": "BTG2",
"pos": [
164,
3
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
234,
14
]
}
|
Reduction of experimental human fibrosarcoma lung metastasis in mice by adenovirus-mediated cystatin C overexpression in the host.
|
NA
|
{
"id": 1471,
"name": "CST3",
"pos": [
92,
10
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
72,
10
]
}
|
To study this thesis, we studied two murine models of fibrosis, first, common bile duct ligation (CBDL) and second, feeding of 3, 5-diethoxy-carbonyl-1, 4-dihydrocollidine (DDC).
|
NA
|
{
"id": 1644,
"name": "DDC",
"pos": [
173,
3
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
54,
8
]
}
|
To use multiple serial MRI to assess rates and trajectories of brain and hippocampal atrophy in subjects with frontotemporal dementia (FTD) with progranulin (GRN) or microtubule-associated protein tau (MAPT) gene mutations.
|
NA
|
{
"id": 2896,
"name": "GRN",
"pos": [
158,
3
]
}
|
{
"id": "C4315130",
"name": "Hippocampal atrophy",
"pos": [
73,
19
]
}
|
Furthermore, we suggest that the noted up-regulation of JunB, which has been shown to up-regulate p16, in combination with the previously reported elevation of p16 expression in psoriatic involved skin, may indicate activation of a pathway by which JunB may protect the psoriatic plaque by inducing p16 in an event of malignant stress.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
299,
3
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
280,
6
]
}
|
SPOP and FOXA1 mutations are associated with PSA recurrence in ERG wt tumors, and SPOP downregulation with ERG-rearranged prostate cancer.
|
genomic_alterations
|
{
"id": 5627,
"name": "PROS1",
"pos": [
45,
3
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
122,
15
]
}
|
Patients in the two other subgroups have been reported to be either deficient in the activity of DHAPAT (RCDP type 2) or alkyl-DHAP synthase (RCDP type 3) while no other abnormalities could be observed.
|
NA
|
{
"id": 8443,
"name": "GNPAT",
"pos": [
97,
6
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
170,
13
]
}
|
Compared with nontransgenic mice, HO-1 transgenic HF mice exhibited significantly (P<0.05) improved postinfarction survival (94% versus 57%) and less LV dilatation (end-diastolic volume, 46+/-8 versus 85+/-32 microL), mechanical dysfunction (ejection fraction, 65+/-9% versus 49+/-16%), hypertrophy (LV/tibia length 4.4+/-0.4 versus 5.2+/-0.6 mg/mm), interstitial fibrosis (11.2+/-3.1% versus 18.5+/-3.5%), and oxidative stress (3-fold reduction in tissue malondialdehyde).
|
NA
|
{
"id": 3162,
"name": "HMOX1",
"pos": [
34,
4
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
287,
11
]
}
|
DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.
|
NA
|
{
"id": 1605,
"name": "DAG1",
"pos": [
0,
4
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
31,
12
]
}
|
Knockdown of LFNG in DU-145 prostate cancer cells led to expansion of CD44(+)CD24(-) and CD49f(+)CD24(-) stem/progenitor-like cell population associated with enhanced prostatosphere-forming capacity.
|
NA
|
{
"id": 3955,
"name": "LFNG",
"pos": [
13,
4
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
28,
15
]
}
|
To investigate the correlations between the polymorphism of IGF2BP2, a diabetes predisposing gene, and breast cancer risk in Chinese female with Han nationality.
|
genomic_alterations
|
{
"id": 10644,
"name": "IGF2BP2",
"pos": [
60,
7
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
71,
8
]
}
|
In contrast, the expression level of GAPDH in blood samples from mutant tau transgenic mice and patients with FAD was decreased as compared to sporadic cases and healthy controls.
|
NA
|
{
"id": 2597,
"name": "GAPDH",
"pos": [
37,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
143,
8
]
}
|
Immunohistochemistry against known cell-type markers on serial sections has localised the expression of REGs to metaplastic Paneth cells (REG1A, REG1B and REG3A) and enteroendocrine cells (REG4), with a marked expansion of expression during inflammation.
|
NA
|
{
"id": 5068,
"name": "REG3A",
"pos": [
155,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
241,
12
]
}
|
MiR-93-5p has been previously found to be associated with gastric cancer (GC) tumorigenesis; however, the current understanding of its function in this context remains largely incomplete.
|
genomic_alterations
|
{
"id": 407050,
"name": "MIR93",
"pos": [
0,
6
]
}
|
{
"id": "C0018081",
"name": "Gonorrhea",
"pos": [
74,
2
]
}
|
RqpR controls target gene expression by direct binding to DNA promoters, including the cis-2-dodecenoic acid (BDSF) and N-acylhomoserine lactone (AHL) signal synthase gene promoters.
|
genomic_alterations
|
{
"id": 8835,
"name": "SOCS2",
"pos": [
87,
5
]
}
|
{
"id": "C0014077",
"name": "Leukoencephalitis, Acute Hemorrhagic",
"pos": [
146,
3
]
}
|
To evaluate the somatotropic axis in relation to body mass index (BMI), serum IGF-1, IGF-binding protein-3 (IGFBP-3) and the expression of IGF-1 R genes in patients with ISS.
|
NA
|
{
"id": 3479,
"name": "IGF1",
"pos": [
85,
3
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
49,
15
]
}
|
Recently, there have been advances in RNA interference therapy, specifically with small interfering RNA (siRNA), to reduce tumor burden for ovarian cancer via gene down-regulation.
|
genomic_alterations
|
{
"id": 57556,
"name": "SEMA6A",
"pos": [
155,
3
]
}
|
{
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
140,
14
]
}
|
Fatty acid synthase (FASN), a key player in the de novo synthetic pathway of long-chain fatty acids, has been shown to contribute to the tumorigenesis in various types of solid tumors.
|
NA
|
{
"id": 2194,
"name": "FASN",
"pos": [
21,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
137,
13
]
}
|
RNA interference against Hec1 inhibits tumor growth in vivo.
|
biomarker
|
{
"id": 10403,
"name": "NDC80",
"pos": [
25,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
39,
5
]
}
|
Patients with HLA-DRB1*01 had less renal disease and a lower SLAM score.
|
NA
|
{
"id": 6504,
"name": "SLAMF1",
"pos": [
61,
4
]
}
|
{
"id": "C0022658",
"name": "Kidney Diseases",
"pos": [
35,
13
]
}
|
No pathogenic rearrangement within the DISC 1 gene in psychosis.
|
genomic_alterations
|
{
"id": 27185,
"name": "DISC1",
"pos": [
39,
6
]
}
|
{
"id": "C0033975",
"name": "Psychotic Disorders",
"pos": [
54,
9
]
}
|
BRAF fusions involving the intact in-frame BRAF kinase domain were observed in 55 (0.3%) of 20,573 tumors, across 12 distinct tumor types, including 20 novel BRAF fusions.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
0,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
99,
6
]
}
|
Our analyses identified three new PCa susceptibility alleles in the TANGO2, OR5H14 and CHAD genes that not only segregate in multiple high-risk families but are also of importance in altering disease risk for men from the general population.
|
genomic_alterations
|
{
"id": 128989,
"name": "TANGO2",
"pos": [
68,
6
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
34,
3
]
}
|
The suggested platelet hyper-reactivity determined by this allele could reduce the risk to suffer SAH, specially if the aneurysm is small, attenuate the severity of the hemorrhage, and reduce the clinical grade at presentation.
|
NA
|
{
"id": 6296,
"name": "ACSM3",
"pos": [
98,
3
]
}
|
{
"id": "C0002940",
"name": "Aneurysm",
"pos": [
120,
8
]
}
|
Several studies have suggested that thrombin-activatable fibrinolysis inhibitor (TAFI) levels are associated with the risk of arterial thrombosis, but results have been contradictory.
|
NA
|
{
"id": 1361,
"name": "CPB2",
"pos": [
81,
4
]
}
|
{
"id": "C0151942",
"name": "Arterial thrombosis",
"pos": [
126,
19
]
}
|
Six transmembrane protein of prostate 2 (STAMP2) is a counterregulator of adipose inflammation and insulin resistance in mice.
|
NA
|
{
"id": 79689,
"name": "STEAP4",
"pos": [
41,
6
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
99,
18
]
}
|
However, eight of 12 patients with FGS who had the M1 (Ala213) V or S alleles but were PPD negative did not require transplantation.
|
genomic_alterations
|
{
"id": 27161,
"name": "AGO2",
"pos": [
87,
3
]
}
|
{
"id": "C0220769",
"name": "FG syndrome",
"pos": [
35,
3
]
}
|
Long-term blockade of AT1 receptors in chronic nephritis has beneficial effects both on albuminuria and blood pressure being as effective as ACE inhibition or their combination.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
141,
3
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
104,
14
]
}
|
In particular, VEGF-C seems to play a key role in prostate cancer metastasis.
|
biomarker
|
{
"id": 7424,
"name": "VEGFC",
"pos": [
15,
6
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
50,
15
]
}
|
Dual and opposing roles of ERK in regulating G(1) and S-G(2)/M delays in A549 cells caused by hyperoxia.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
27,
3
]
}
|
{
"id": "C0242706",
"name": "Hyperoxia",
"pos": [
94,
9
]
}
|
We now report that in genomic DNA from individuals with familial and sporadic ALS, we have identified at least 7 PON gene mutations that are predicted to alter PON function.
|
NA
|
{
"id": 5444,
"name": "PON1",
"pos": [
160,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
69,
8
]
}
|
We report a case of a VHL patient with retinal hemangioblastoma who underwent PET/CT scans using F-FDG and Ga-DOTATATE.
|
NA
|
{
"id": 23583,
"name": "SMUG1",
"pos": [
99,
3
]
}
|
{
"id": "C1514915",
"name": "Retinal hemangioblastoma",
"pos": [
39,
24
]
}
|
Toll-like receptor 3 ligand, polyIC, induces proteinuria and glomerular CD80, and increases urinary CD80 in mice.
|
NA
|
{
"id": 941,
"name": "CD80",
"pos": [
72,
4
]
}
|
{
"id": "C0033687",
"name": "Proteinuria",
"pos": [
45,
11
]
}
|
These results fail to confirm a previously reported association between the DRB1*04 and 07 haplotypes and atopy, and suggest that HLA class II restriction does not play a major role in the development of the IgE response to domestic house dust mite allergens in the British population.
|
NA
|
{
"id": 129831,
"name": "RBM45",
"pos": [
76,
4
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
106,
5
]
}
|
More importantly, S100P was found to be critical for SOX9-mediated metastasis and invasion in colon cancer.
|
NA
|
{
"id": 6286,
"name": "S100P",
"pos": [
18,
5
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
94,
12
]
}
|
We investigated the prevalence of ELANE mutations in a group of 16 patients from 14 families with congenital neutropenia.
|
genomic_alterations
|
{
"id": 1991,
"name": "ELANE",
"pos": [
34,
5
]
}
|
{
"id": "C1853118",
"name": "Severe congenital neutropenia",
"pos": [
98,
22
]
}
|
Potential Role of Mic60/Mitofilin in Parkinson's Disease.
|
biomarker
|
{
"id": 54045,
"name": "IMMTP1",
"pos": [
24,
9
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
37,
19
]
}
|
In conclusion, macrophages of MS patients display a deficiency of SHP-1 expression, heightened activation of STAT6, STAT1, and NF-kappaB and a corresponding inflammatory profile that may be important in controlling macrophage-mediated demyelination in MS.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
127,
9
]
}
|
{
"id": "C0011304",
"name": "Demyelination",
"pos": [
235,
13
]
}
|
We developed a regulatable adenoviral vector (Ad.mhIL-4.TRE.mhIL-13-PE) encoding a mutated human IL-13 fused to Pseudomonas exotoxin (mhIL-13-PE) that specifically binds to IL13Rα2 to provide sustained expression, effective anti-GBM cytotoxicity, and minimal neurotoxicity.
|
genomic_alterations
|
{
"id": 11181,
"name": "TREH",
"pos": [
56,
3
]
}
|
{
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
229,
3
]
}
|
The mean ±sd area under the receiver operating characteristic (AUROC) curve values for advanced fibrosis (≥F3 METAVIR) for HYA, APRI, FIB-4 and CK-18 were 0.86 ±0.05, 0.84 ±0.08, 0.80 ±0.09 and 0.81 ±0.07, respectively.
|
NA
|
{
"id": 8284,
"name": "KDM5D",
"pos": [
123,
3
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
96,
8
]
}
|
IL-17 is a proinflammatory cytokine, and its in vivo expression induces neutrophilia in mice.
|
NA
|
{
"id": 3605,
"name": "IL17A",
"pos": [
0,
5
]
}
|
{
"id": "C0151683",
"name": "Neutrophilia (finding)",
"pos": [
72,
12
]
}
|
Although a few cases of ALK-positive large B-cell lymphoma harbor nucleophosmin-ALK chromosomal translocation similar to ALK-positive anaplastic large cell lymphoma, most reported cases are characterized by t(2;17)(p23;q23) involving the clathrin gene.
|
NA
|
{
"id": 238,
"name": "ALK",
"pos": [
80,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
84,
25
]
}
|
These data suggest that factor V Leiden is associated with an increased risk of obstetric complications, but that the -455A allele of beta-fibrinogen, PGM and MTHFR do not appear to be implicated.
|
NA
|
{
"id": 2153,
"name": "F5",
"pos": [
24,
15
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
139,
10
]
}
|
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