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dict |
|---|---|---|---|
Mice lacking functional HO-1 (HO-1(-/-)) showed reduced reparative neovascularization in ischaemic skeletal muscles, impaired blood flow (BF) recovery, and increased muscle cell death compared with their wild-type littermates.
|
NA
|
{
"id": 3162,
"name": "HMOX1",
"pos": [
30,
4
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
67,
18
]
}
|
Neither of CYP24A1 gene SNPs was associated with BC risk in the study participants.
|
genomic_alterations
|
{
"id": 1591,
"name": "CYP24A1",
"pos": [
11,
7
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
49,
2
]
}
|
Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (242C --> T in the NADH/NADPH oxidase p22 phox (p22-PHOX) gene and 2136C --> T in the thrombomodulin (THBD) gene) in men and two polymorphisms (584G --> A in the paraoxonase 1 (PON1) gene and 2445G --> A in the fatty acid-binding protein 2 (FABP2) gene) in women were significantly associated with restenosis after POBA.
|
NA
|
{
"id": 11261,
"name": "CHP1",
"pos": [
258,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
129,
17
]
}
|
Lung cancer studies of p53 and smoking need to consider the effect of histotype, and prognostic studies of p53 should adjust for the effects of T and N or stage and histotype.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
107,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
31,
7
]
}
|
The nucleus accumbens (NAc) is part of a brain reward circuit affected by Δ<sup>9</sup>-THC through modulation of glutamate afferents arising from corticolimbic brain areas implicated in drug addiction and psychiatric disorders.
|
biomarker
|
{
"id": 7454,
"name": "WAS",
"pos": [
100,
3
]
}
|
{
"id": "C0004936",
"name": "Mental disorders",
"pos": [
218,
21
]
}
|
Substitution of an arginine at position 433 with a histidine [TNSALP(R433H)] or a cysteine [TNSALP(R433C)] was reported in patients diagnosed with the mild or severe form of hypophosphatasia, respectively.
|
NA
|
{
"id": 249,
"name": "ALPL",
"pos": [
93,
6
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
152,
4
]
}
|
The study included 178 children, 79 with severe MR (SMR) (IQ<50) and 99 with mild MR (MMR) (IQ 50 to 70).
|
NA
|
{
"id": 4360,
"name": "MRC1",
"pos": [
86,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
77,
4
]
}
|
Overall, the weighted mean proportion of cases with PARK2 (parkin), PINK1, and PARK7 (DJ-1) mutations was 8.6%, 3.7%, and 0.4%, respectively.
|
genomic_alterations
|
{
"id": 65018,
"name": "PINK1",
"pos": [
68,
5
]
}
|
{
"id": "C1853445",
"name": "PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET",
"pos": [
86,
4
]
}
|
NRAS mutations are more prevalent than KIT mutations in melanoma of the female urogenital tract--a study of 24 cases from the Netherlands.
|
genomic_alterations
|
{
"id": 4893,
"name": "NRAS",
"pos": [
0,
4
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
56,
8
]
}
|
A total of 592 primary invasive BC cases from before and after the publication of the updated ASCO/CAP guideline were evaluated for HER2 amplification by silver ISH according to the 2013 and 2018 guidelines.
|
biomarker
|
{
"id": 9200,
"name": "HACD1",
"pos": [
99,
3
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
32,
2
]
}
|
The aim of our study was to evaluate the frequency of CN-LOH at 17p in bone-marrow cells of newly diagnosed MDS patients with complex chromosomal aberrations and to assess its correlation with mutations in the TP53 gene (17p13.1).
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
210,
9
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
134,
23
]
}
|
G protein beta3 subunit T allele was more strongly correlated with IBS with constipation (12 of constipation-dominant type and 31 of mixed type) than with 51 diarrhea-dominant type and 88 normal subjects (chi(2) = 13.91, P = 0.008).
|
NA
|
{
"id": 27319,
"name": "BHLHE22",
"pos": [
10,
5
]
}
|
{
"id": "C0011991",
"name": "Diarrhea",
"pos": [
158,
8
]
}
|
Recently, two microdeletions encompassing Nuclear Factor I-X (NFIX) and a nonsense mutation in NFIX have been found in three individuals with Sotos-like overgrowth features, suggesting possible involvements of NFIX abnormalities in Sotos-like features.
|
NA
|
{
"id": 4784,
"name": "NFIX",
"pos": [
210,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
215,
13
]
}
|
Polymorphism of the codon 129 of the prion protein (PrP) gene and neuropathology of cerebral ageing.
|
NA
|
{
"id": 5621,
"name": "PRNP",
"pos": [
37,
13
]
}
|
{
"id": "C0001811",
"name": "Aging",
"pos": [
93,
6
]
}
|
The GA genotype of TNF-alpha-238 was more common in placentas with severe MCA than with mild MCA (p = 0.015).
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
19,
9
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
88,
4
]
}
|
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.
|
NA
|
{
"id": 26580,
"name": "BSCL2",
"pos": [
141,
6
]
}
|
{
"id": "C0424621",
"name": "Body Fat Distribution",
"pos": [
28,
21
]
}
|
Curcumin significantly blocked CCL2 induced adhesion, invasion and motility.
|
NA
|
{
"id": 6347,
"name": "CCL2",
"pos": [
31,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
44,
8
]
}
|
The polymorphism of CYP2E1 and mEH could also affect the chromosomal instability of BD workers.
|
NA
|
{
"id": 1571,
"name": "CYP2E1",
"pos": [
20,
6
]
}
|
{
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
57,
23
]
}
|
Our results showed that the expression of hypoxia inducible factor-1 alpha, P-gp and mutltidrug resistance protein under hypoxia were higher than the expression under normoxia, and correlations between the expression of HIF-1alpha and P-gp or multidrug resistance-associated protein was observed (P< 0.05).
|
NA
|
{
"id": 5243,
"name": "ABCB1",
"pos": [
235,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
121,
7
]
}
|
One further case with a cytogenetic abnormality close to 11q23 was studied; it was found to have a t(10;11)(p13;q21), and the breakpoints were shown by FISH to involve the Clathrin Assembly Lymphoid Myeloid (CALM) gene at 11q21 and the AF10 gene at 10p13.
|
NA
|
{
"id": 8301,
"name": "PICALM",
"pos": [
208,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
24,
23
]
}
|
These data indicate that deregulated control of cellular CDC25A levels leads to in vivo genomic instability, which cooperates with the neu-ras oncogenic pathway in mammary tumorigenesis.
|
NA
|
{
"id": 993,
"name": "CDC25A",
"pos": [
57,
6
]
}
|
{
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
88,
19
]
}
|
Serum autotaxin was increased in ICP (mean ± SD: 43.5 ± 18.2 nmol ml(-1)min(-1), n=55, p<0.0001) compared to other pruritic disorders of pregnancy (16.8 ± 6.7 nmol ml(-1)min(-1), n=33), pre-eclampsia complicated by HELLP-syndrome (16.8 ± 8.9 nmol ml(-1)min(-1), n=17), and pregnant controls (19.6 ± 5.7 nmol ml(-1)min(-1), n=44).
|
NA
|
{
"id": 5168,
"name": "ENPP2",
"pos": [
6,
9
]
}
|
{
"id": "C0013537",
"name": "Eclampsia",
"pos": [
190,
9
]
}
|
Mastocytosis are myeloproliferative neoplasms commonly related to gain-of-function mutations involving the tyrosine kinase domain of KIT.
|
genomic_alterations
|
{
"id": 3815,
"name": "KIT",
"pos": [
133,
3
]
}
|
{
"id": "C0027022",
"name": "Myeloproliferative disease",
"pos": [
17,
28
]
}
|
Among the 106 cases, 35 cases had shortened telomeres (<7 kb), 15 had shortened 3'-OH (3'-OH length ratio of cancer/NCM <0.5) and 88 were classified as telomerase-activated cancers (activity ratio of cancer/NCM >2).
|
NA
|
{
"id": 57703,
"name": "CWC22",
"pos": [
207,
3
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
200,
6
]
}
|
The RAD51 paralogs ensure cellular protection against mitotic defects and aneuploidy.
|
NA
|
{
"id": 5888,
"name": "RAD51",
"pos": [
4,
5
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
74,
10
]
}
|
Genotype and 1-year data on changes in physical activity, serum CRP and IL-6 were available for 390 overweight subjects with impaired glucose tolerance.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
72,
4
]
}
|
{
"id": "C0497406",
"name": "Overweight",
"pos": [
100,
10
]
}
|
Our data suggest that mutations in SHH, GAS1 and SBE2 are not associated with hypopituitarism, although GLI2 is an important candidate for CH.
|
NA
|
{
"id": 6469,
"name": "SHH",
"pos": [
35,
3
]
}
|
{
"id": "C0020635",
"name": "Hypopituitarism",
"pos": [
78,
15
]
}
|
These data demonstrates that Tat-SOD inhibits TPA-induced inflammation in mice by reducing the levels of expression of proinflammatory cytokines and enzymes regulated by the NF-kappaB and MAPK and can be used as a therapeutic agent against skin inflammation related to oxidative damage.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
174,
9
]
}
|
{
"id": "C0011603",
"name": "Dermatitis",
"pos": [
240,
17
]
}
|
The positions of the methemoglobinemia-causing mutations are scattered throughout the protein sequence, but the majority of the nontruncated mutants that produce type II symptoms occur close to the flavin adenine dinucleotide (FAD) cofactor binding site.
|
NA
|
{
"id": 675,
"name": "BRCA2",
"pos": [
227,
3
]
}
|
{
"id": "C0025637",
"name": "Methemoglobinemia",
"pos": [
21,
17
]
}
|
Loss of nuclear p27 expression and its prognostic role in relation to cyclin E and p53 mutation in gastroenteropancreatic neuroendocrine tumors.
|
NA
|
{
"id": 10671,
"name": "DCTN6",
"pos": [
16,
3
]
}
|
{
"id": "C0206754",
"name": "Neuroendocrine Tumors",
"pos": [
122,
21
]
}
|
Notably, both plasmablastic transformation cases also carried MYC gene rearrangements on chromosome 8q24, which have been frequently identified in de novo plasmablastic lymphoma.
|
genomic_alterations
|
{
"id": 4609,
"name": "MYC",
"pos": [
62,
3
]
}
|
{
"id": "C3472614",
"name": "Plasmablastic lymphoma",
"pos": [
155,
22
]
}
|
Recombinant adenovirus containing the human pancreatic lipase cDNA (AdPL) was shown to transduce and mediate pancreatic lipase biosynthesis in rat IEC-6 epithelial cells in vitro.
|
NA
|
{
"id": 5406,
"name": "PNLIP",
"pos": [
109,
17
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
12,
10
]
}
|
In vitro studies reveal that ProT induced insulin resistance through a toll-like receptor 4-nuclear factor-κB-dependent pathway.
|
NA
|
{
"id": 7099,
"name": "TLR4",
"pos": [
71,
20
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
42,
18
]
}
|
Although epidemiologic studies indicate that individuals who take COX inhibitors have a lower incidence of some tumors, these inhibitors have not been evaluated in uterine cancer.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
66,
3
]
}
|
{
"id": "C0153567",
"name": "Uterine Cancer",
"pos": [
164,
14
]
}
|
We therefore examined whether tumor necrosis factor alpha (TNF-alpha), a known inducer of MIF expression by macrophages in vitro, up-regulates local and systemic MIF expression in a macrophage-mediated rat model of crescentic glomerulonephritis.
|
NA
|
{
"id": 268,
"name": "AMH",
"pos": [
162,
3
]
}
|
{
"id": "C0403416",
"name": "Idiopathic crescentic glomerulonephritis",
"pos": [
215,
29
]
}
|
Significant associations with asthma, atopy and particularly for asthma with atopy were observed for a large region of 47 kb in the NPSR1 gene, even after Bonferroni correction for multiple comparisons (p<0.001).
|
NA
|
{
"id": 387129,
"name": "NPSR1",
"pos": [
132,
10
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
77,
5
]
}
|
In this study, we screened the GIPR gene for mutations and examined the association between three single-nucleotide polymorphisms (SNPs; rs8111428, rs2302382, rs1800437) and childhood obesity, as well as impaired glucose homeostasis.
|
genomic_alterations
|
{
"id": 2696,
"name": "GIPR",
"pos": [
31,
4
]
}
|
{
"id": "C2362324",
"name": "Pediatric Obesity",
"pos": [
174,
17
]
}
|
We aimed to define monocyte COX expression in type 1 diabetes basally and after lipopolysaccharide (LPS) stimulation.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
28,
3
]
}
|
{
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
46,
15
]
}
|
The EYA1 gene is known as the causative gene of BOR (Branchio-oto-renal) syndrome which is a genetic disorder associated with branchial cleft cysts of fistulae, hearing loss, ear malformation, and renal anomalies.
|
NA
|
{
"id": 55143,
"name": "CDCA8",
"pos": [
48,
3
]
}
|
{
"id": "C0266589",
"name": "Congenital ear anomaly NOS (disorder)",
"pos": [
175,
16
]
}
|
The effect of the NAT1 genotype was especially marked for workers exposed to TDI, among whom the NAT1 slow acetylator genotypes posed a 7.77-fold risk of asthma (95% CI 1.18 to 51.6).
|
NA
|
{
"id": 1982,
"name": "EIF4G2",
"pos": [
97,
4
]
}
|
{
"id": "C0004096",
"name": "Asthma",
"pos": [
154,
6
]
}
|
These findings suggest that serum EC-SOD concentration levels may be a marker of vascular injury, possibly reflecting hyperglycemia-induced oxidative injury to the vascular endothelium and decreased binding of EC-SOD to the vascular wall.
|
NA
|
{
"id": 6649,
"name": "SOD3",
"pos": [
210,
6
]
}
|
{
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
118,
13
]
}
|
MYC gene alterations in large B-cell lymphomas are frequently associated with BCL2 or BCL6 translocations conferring a very aggressive behavior.
|
NA
|
{
"id": 4609,
"name": "MYC",
"pos": [
0,
8
]
}
|
{
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
124,
19
]
}
|
Except from a small increase of hypoxia-induced PHD3 mRNA levels in HeLa cells, there was also no significant effect of acidosis on PHD expression.
|
NA
|
{
"id": 112399,
"name": "EGLN3",
"pos": [
48,
4
]
}
|
{
"id": "C0001122",
"name": "Acidosis",
"pos": [
120,
8
]
}
|
We investigated the association between both adiponectin and leptin, and the metabolic syndrome (MetS), lipid parameters, insulin sensitivity, sex steroids and IGF-I in healthy non-diabetic Lebanese men.
|
NA
|
{
"id": 3479,
"name": "IGF1",
"pos": [
160,
5
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
122,
19
]
}
|
Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium.
|
NA
|
{
"id": 9260,
"name": "PDLIM7",
"pos": [
112,
6
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
25,
13
]
}
|
In p53(wt) hypoxic cells simultaneous suppression of p53 and over-expression of HIF1-alpha are needed to induce H19 significantly, while each treatment separately resulting in a mild induction, indicating that the molecular mechanism of p53 suppression effect on H19 may at least in part involve interfering with HIF1-alpha activity.
|
NA
|
{
"id": 283120,
"name": "H19",
"pos": [
263,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
178,
4
]
}
|
Acute Necrotizing Pancreatitis Following Olanzapine Treatment and 759C/T Polymorphism of HTR2C Gene: A Case Report.
|
genomic_alterations
|
{
"id": 3358,
"name": "HTR2C",
"pos": [
89,
5
]
}
|
{
"id": "C0267941",
"name": "Pancreatitis, Acute Necrotizing",
"pos": [
0,
30
]
}
|
Characterisation of a new gene, denoted APITD1, in the neuroblastoma tumour suppressor candidate region in chromosome 1p36.22 reveals that APITD1 contains a predicted TFIID-31 domain, representing the TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation.
|
biomarker
|
{
"id": 6873,
"name": "TAF2",
"pos": [
245,
6
]
}
|
{
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
55,
13
]
}
|
We hypothesized that two DDAH2 promoter -1151 A/C and -449 G/C polymorphisms (rs805304 and rs805305) will be associated with blood pressure levels, hypertension prevalence and measures of cardiac structure and function in the general population.
|
NA
|
{
"id": 23564,
"name": "DDAH2",
"pos": [
25,
5
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
125,
14
]
}
|
In this study, we investigated whether there was an upregulated expression of B7-H1 in peripheral blood mononuclear cells in patients chronically infected by HBV and further explored the correlation between B7-H1 expression and serum interleukin 2, interferon-gamma, IL-10, HBeAg, alanine aminotransferase (ALT) levels and viral load.
|
NA
|
{
"id": 3586,
"name": "IL10",
"pos": [
267,
5
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
323,
10
]
}
|
We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset <50 years of age).
|
NA
|
{
"id": 11315,
"name": "PARK7",
"pos": [
41,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
102,
8
]
}
|
We suggest that ClC-5 may be essential for proximal tubular endocytosis by providing an electrical shunt necessary for the efficient acidification of vesicles in the endocytotic pathway, explaining the proteinuria observed in Dent's disease.
|
NA
|
{
"id": 1184,
"name": "CLCN5",
"pos": [
16,
5
]
}
|
{
"id": "C0232180",
"name": "Cardiac shunt",
"pos": [
99,
5
]
}
|
The lipoma preferred partner (LPP) gene is the most frequent translocation partner of HMGA2 in a subgroup of lipomas, which are benign tumors of adipose tissue.
|
NA
|
{
"id": 8091,
"name": "HMGA2",
"pos": [
86,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
61,
13
]
}
|
Activation of Wnt signaling has been implicated in gastric tumorigenesis, although mutations in APC (adenomatous polyposis coli), CTNNB1 (beta-catenin) and AXIN are seen much less frequently in gastric cancer (GC) than in colorectal cancer.
|
NA
|
{
"id": 8312,
"name": "AXIN1",
"pos": [
156,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
59,
13
]
}
|
The aim of this study was to determine whether or not promoter polymorphisms of the class I major histocompatibility complex (HLA-E, HLA-F, and HLA-G) are associated with susceptibility to vitiligo.
|
genomic_alterations
|
{
"id": 3135,
"name": "HLA-G",
"pos": [
144,
5
]
}
|
{
"id": "C0042900",
"name": "Vitiligo",
"pos": [
189,
8
]
}
|
Infection by wild-type PTEN adenovirus, but not control adenovirus, inhibited telomerase activity 24 h after infection.
|
NA
|
{
"id": 5728,
"name": "PTEN",
"pos": [
23,
4
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
56,
10
]
}
|
In this study we have investigated the effect of BH4 on PAH gene expression in human hepatoma.
|
NA
|
{
"id": 5053,
"name": "PAH",
"pos": [
56,
8
]
}
|
{
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
85,
8
]
}
|
To investigate the up-regulation of chemokine ligand 20 (CCL20) in chronic rhinosinusitis mucosa and to localize the distribution of CCL20 in the human paranasal sinus mucosa.
|
NA
|
{
"id": 6364,
"name": "CCL20",
"pos": [
133,
5
]
}
|
{
"id": "C0149516",
"name": "Chronic sinusitis",
"pos": [
67,
22
]
}
|
Genomic profiling of B-cell leukemia and lymphoma has put BTG1 and BTG2 in the spotlight, since both genes are frequently deleted or mutated in these malignancies, pointing towards a role as tumor suppressors.
|
biomarker
|
{
"id": 694,
"name": "BTG1",
"pos": [
58,
4
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
41,
8
]
}
|
In vivo, CYLD also reduced hepatic STAT3 K63-ubiquitination and activation, NF-κB activation, IL-6 and NOX2 mRNA production as well as fibrin production in murine listeriosis.
|
NA
|
{
"id": 6774,
"name": "STAT3",
"pos": [
35,
5
]
}
|
{
"id": "C0023860",
"name": "Listeriosis",
"pos": [
163,
11
]
}
|
The transcription levels of ABCA1, ABCG1 and SR-BI are negatively associated with plasma CRP in Chinese populations with various risk factors for atherosclerosis.
|
genomic_alterations
|
{
"id": 9619,
"name": "ABCG1",
"pos": [
35,
5
]
}
|
{
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
146,
15
]
}
|
Administration of vincristine was associated with the development of allodynia and hyperalgesia without spontaneous pain, foot deformity and elevation in the levels of TNF-α.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
168,
5
]
}
|
{
"id": "C0016506",
"name": "Foot Deformities",
"pos": [
122,
14
]
}
|
After hypoxic cultured 12 h, the expression of HIF-1 protein, HIF-1mRNA and miR-191 of MIA PaCa-2 and AsPC-1 cells increased significantly (P < 0.05).
|
NA
|
{
"id": 8190,
"name": "MIA",
"pos": [
87,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
6,
7
]
}
|
cIAP1 was positive in all precursor B-cell lymphoblastic lymphoma/leukemia (LBL) and nodal marginal zone B-cell lymphoma (MZL), over 90% of follicular lymphoma and diffuse large B-cell lymphoma (DLBCL), and approximately 50% to 60% of myeloma, Burkitt lymphoma (BL), lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM), small lymphocytic lymphoma/ chronic lymphocytic leukemia (SLL/CLL), extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue (MALT-lymphoma), splenic MZL, and mantle cell lymphoma.
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
325,
3
]
}
|
{
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
235,
7
]
}
|
Additionally, the TPH1 gene may be associated pleiotropically with PTSD and depressive symptoms.
|
genomic_alterations
|
{
"id": 7166,
"name": "TPH1",
"pos": [
18,
4
]
}
|
{
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
76,
19
]
}
|
No correlation was found between NF-kappaB nuclear pattern and the presence of microsatellite instability, or alterations in PTEN, k-RAS, or beta-catenin.
|
NA
|
{
"id": 1499,
"name": "CTNNB1",
"pos": [
141,
12
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
79,
26
]
}
|
Our combined FISH and microsatellite analysis uncovered a novel mechanism to supplement mitotic recombination previously proposed to explain JAK2 LOH, namely chromosome deletion with/without selective JAK2mu amplification.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
13,
4
]
}
|
{
"id": "C0008628",
"name": "Chromosome Deletion",
"pos": [
158,
19
]
}
|
We found evidence of associations with EOC risk for variants at FANCA, EXO1, E2F4, E2F2, CREB5 and CHEK2 genes (P ≤ 0.001).
|
genomic_alterations
|
{
"id": 2175,
"name": "FANCA",
"pos": [
64,
5
]
}
|
{
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
39,
3
]
}
|
In conclusion, the findings provide further evidence that the pre-mutation allele of FMR1 is a significant cause of late-onset neurodegeneration, presenting with a broad spectrum of clinical manifestations.
|
NA
|
{
"id": 2332,
"name": "FMR1",
"pos": [
85,
4
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
127,
17
]
}
|
The sarcoma homology domain containing protein tyrosine phosphatase (SHP)2 has been shown to be involved in regulating endothelial barrier function; however, the mechanisms remain largely unknown.
|
biomarker
|
{
"id": 5781,
"name": "PTPN11",
"pos": [
69,
5
]
}
|
{
"id": "C4551686",
"name": "Malignant neoplasm of soft tissue",
"pos": [
4,
7
]
}
|
We found no evidence of allelic loss within or near the VDR locus and no mutations within the splice junctions and coding regions of the VDR gene in 37 typical sporadic parathyroid adenomas.
|
NA
|
{
"id": 7421,
"name": "VDR",
"pos": [
137,
8
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
160,
8
]
}
|
Role of endothelial nitric oxide synthase and collagen metabolism in right ventricular remodeling due to pulmonary hypertension.
|
NA
|
{
"id": 4846,
"name": "NOS3",
"pos": [
8,
33
]
}
|
{
"id": "C0600519",
"name": "Ventricular Remodeling",
"pos": [
75,
22
]
}
|
Although it is well known that DKK-1 inhibits osteoblast differentiation, we found that together with MCP-1, it could also promote osteoclast differentiation and bone resorption.
|
NA
|
{
"id": 22943,
"name": "DKK1",
"pos": [
31,
5
]
}
|
{
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
162,
15
]
}
|
The CD44⁺CD117⁺CSCs were obtained from the ascitic fluid of patients with epithelial ovarian cancer by using an immune magnetic-activated cell sorting system.
|
biomarker
|
{
"id": 3815,
"name": "KIT",
"pos": [
9,
5
]
}
|
{
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
74,
25
]
}
|
We also discuss the functional contribution of CAIX to several specific biological processes critical for cancer progression, including pH regulation and cell survival, adhesion, migration and invasion, the maintenance of cancer stem cell function, and the acquisition of chemo and radioresistant properties.
|
NA
|
{
"id": 768,
"name": "CA9",
"pos": [
47,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
169,
8
]
}
|
ANKHD1, a novel component of the Hippo signaling pathway, promotes YAP1 activation and cell cycle progression in prostate cancer cells.
|
NA
|
{
"id": 54882,
"name": "ANKHD1",
"pos": [
0,
6
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
113,
15
]
}
|
Does oral contraceptives pretreatment affect the pregnancy outcome in polycystic ovary syndrome women undergoing ART with GnRH agonist protocol?
|
genomic_alterations
|
{
"id": 9048,
"name": "ARTN",
"pos": [
113,
3
]
}
|
{
"id": "C0032460",
"name": "Polycystic Ovary Syndrome",
"pos": [
70,
25
]
}
|
Finally, ActRIIB-mFc prevented loss of bone mass in ORX mice as assessed by whole body dual x-ray absorptiometry and micro-computed tomography of proximal tibias.
|
NA
|
{
"id": 93,
"name": "ACVR2B",
"pos": [
9,
7
]
}
|
{
"id": "C0005938",
"name": "Bone Density",
"pos": [
39,
9
]
}
|
We observed no association between TRIM5 polymorphism in HIV-1-infected subjects and their set-point viral load after acute infection, although one TRIM5 haplotype was weakly associated with more rapid CD4(+) T-cell loss.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
202,
3
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
101,
10
]
}
|
NMR studies revealed that the [( S, S)-Im<sub>2</sub>An]<sub>4</sub>(Zn<sup>2+</sup>)<sub>2</sub> assembly has an anthracene dimer structure with a parallel-displaced geometry, leading to relatively small circular dichroism (CD) signals, as expected for nonchiral objects.
|
genomic_alterations
|
{
"id": 100505887,
"name": "LINC01672",
"pos": [
0,
3
]
}
|
{
"id": "C0018553",
"name": "Hamartoma Syndrome, Multiple",
"pos": [
273,
2
]
}
|
Our analyses showed that germ-line p53 mutations and sex had significant interaction effects on cancer risk.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
35,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
96,
6
]
}
|
Hypertension has been identified as a major risk factor for diabetic retinopathy and randomized clinical trials have shown that reduction of blood pressure using angiotensin converting enzyme (ACE) inhibitors reduces the progression of diabetic retinopathy.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
193,
3
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
141,
14
]
}
|
In this study, we investigated the ability of a CS extract derived from a high tar cigarette to alter human neutrophil ROS production and the translocation of two NADPH oxidase proteins, p47phox and p67phox.
|
NA
|
{
"id": 653361,
"name": "NCF1",
"pos": [
187,
7
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
142,
13
]
}
|
Trp64Arg polymorphism of the beta3-adrenergic receptor (beta3-AR) gene was reported to be associated with increased risk of obesity and insulin resistance.
|
NA
|
{
"id": 27319,
"name": "BHLHE22",
"pos": [
56,
5
]
}
|
{
"id": "C0028754",
"name": "Obesity",
"pos": [
124,
7
]
}
|
Confocal analyses of nasal mucosa-associated lymphoid tissue after i.n. instillation of P40 showed that this molecule is able to cross the nasal epithelium and target CD11c-positive cells likely to be murine dendritic cells or macrophages.
|
biomarker
|
{
"id": 5713,
"name": "PSMD7",
"pos": [
88,
3
]
}
|
{
"id": "C0242647",
"name": "Mucosa-Associated Lymphoid Tissue Lymphoma",
"pos": [
27,
33
]
}
|
Clonally expanded CD3+, CD4-, CD8- cells bearing the alpha/beta or the gamma/delta T-cell receptor in patients with the lymphoproliferative disease of granular lymphocytes.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
30,
3
]
}
|
{
"id": "C1522378",
"name": "Leukemia, Large Granular Lymphocytic",
"pos": [
120,
51
]
}
|
In this Phase II study (NCT01677754), 542 patients with moderate dementia (MMSE 13-20) on background acetylcholinesterase inhibitors with/without memantine were randomized (1:1:1) to sembragiline 1 mg, 5 mg, or placebo once daily orally for 52 weeks.
|
genomic_alterations
|
{
"id": 43,
"name": "ACHE",
"pos": [
101,
20
]
}
|
{
"id": "C3494871",
"name": "Moderate dementia",
"pos": [
56,
17
]
}
|
Here we study bone morphogenetic protein (BMP) signaling in endothelial inflammation and in particular the role of BMPER, an extracellular BMP modulator that is important in vascular development and angiogenesis.
|
NA
|
{
"id": 168667,
"name": "BMPER",
"pos": [
115,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
72,
12
]
}
|
Serum LPA variant levels were determined in patients with HepC ± HCC, alcoholic cirrhosis ± HCC, or nonalcoholic steatohepatitis ± HCC by mass spectroscopy.
|
NA
|
{
"id": 84668,
"name": "FAM126A",
"pos": [
131,
3
]
}
|
{
"id": "C3241937",
"name": "Nonalcoholic Steatohepatitis",
"pos": [
100,
28
]
}
|
Progress from adhesion to detachment of EC9706 cells causes DR5 relocalization, and promotes cytoplasmic translocation of DR5 to cell surfaces via a Golgi-dependent pathway.
|
NA
|
{
"id": 8795,
"name": "TNFRSF10B",
"pos": [
122,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
14,
8
]
}
|
In conclusion, our data are the first to show tumor-suppressive effects of miR-221 and miR-222 on lung cancer, warranting testing their potential as therapeutics for the disease.
|
biomarker
|
{
"id": 407007,
"name": "MIR222",
"pos": [
87,
7
]
}
|
{
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
98,
11
]
}
|
This was confirmed in CHO alphaIIbbeta3-H723 transfectants, which also exhibited increased PAC-1 binding, increased adhesion to von Willebrand factor (VWF) in static conditions and to fibrinogen under shear stress.
|
NA
|
{
"id": 1844,
"name": "DUSP2",
"pos": [
91,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
116,
8
]
}
|
Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A.
|
genomic_alterations
|
{
"id": 7846,
"name": "TUBA1A",
"pos": [
140,
6
]
}
|
{
"id": "C1955869",
"name": "Malformations of Cortical Development",
"pos": [
26,
37
]
}
|
After 5-week insulin therapy, there was a significant decrease in the expression of CCR5 on the surface of these cells and a significant fall in serum levels of RANTES, IL-6, TNF-alpha and hsCRP.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
175,
9
]
}
|
{
"id": "C0085639",
"name": "Falls",
"pos": [
137,
4
]
}
|
PADI4 was detected in serious cystadenocarcinoma (n=39, positivity=100%), clear cell cancer (n=7, positivity= 100%), mucinous cystadenocarcinoma (n=6, positivity=100%), dysgerminoma (n=6, positivity=100%), squamous cell tumor (n=6, positivity=100%), sibnet-ring cell carcinoma (n=6, positivity=100%), endodermal sinus tumor (n=6, positivity=100%), germ cell tumors (n=6, positivity=100%) and immature teratoma (n=6, positivity=100%).
|
biomarker
|
{
"id": 23569,
"name": "PADI4",
"pos": [
0,
5
]
}
|
{
"id": "C0205851",
"name": "Germ cell tumor",
"pos": [
348,
16
]
}
|
CD4(+)CD28(null) T cells are present in increased numbers in the peripheral blood of patients with acute coronary syndrome.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
0,
3
]
}
|
{
"id": "C0948089",
"name": "Acute Coronary Syndrome",
"pos": [
99,
23
]
}
|
The zinc-finger protein Zac1 has a role as transcription factor and coregulator and plays an important role in pituitary development, maturation and tumorigenesis.
|
NA
|
{
"id": 5325,
"name": "PLAGL1",
"pos": [
24,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
149,
13
]
}
|
Moreover, SRF-RELA fusions have been described in a subset of cellular variants of myofibroma and myopericytoma showing myogenic differentiation.
|
genomic_alterations
|
{
"id": 6722,
"name": "SRF",
"pos": [
10,
3
]
}
|
{
"id": "C1368237",
"name": "Solitary Myofibromatosis",
"pos": [
83,
10
]
}
|
A combination of an iron chelator with an antioxidant effectively diminishes the dendritic loss, tau-hyperphosphorylation, amyloids-β accumulation and brain mitochondrial dynamic disruption in rats with chronic iron-overload.
|
therapeutic
|
{
"id": 4137,
"name": "MAPT",
"pos": [
97,
3
]
}
|
{
"id": "C0282193",
"name": "Iron Overload",
"pos": [
151,
5
]
}
|
We conducted a double-blind, placebo-controlled trial of 4 weeks of intranasal fluticasone propionate or matching placebo to assess their effectiveness in reducing NP inflammatory cells, expression of endothelial vascular cell adhesion molecule (VCAM)-1 and P-selectin, and expression of cytokines involved in induction of a group of adhesion molecules (ie, IL-4, IL-13, TNF-alpha, and IL-1beta).
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
371,
9
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
334,
8
]
}
|
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