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|---|---|---|---|
The Q84R polymorphic variant of TRB3 has been linked to insulin resistance and related clinical outcomes. | NA | {
"id": 50838,
"name": "TAS2R13",
"pos": [
32,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
56,
18
]
} |
The relationship between COMT polymorphism and cognitive function, aggression and psychiatric symptoms was tested in the schizophrenic group. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
25,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
67,
10
]
} |
Family scripts, the hope to be healthy and the wish to live through significant stages in family life may lead to the choice of prophylactic oophorectomy among asymptomatic BRCA1 or 2 mutation carriers. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
173,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
160,
12
]
} |
Likewise, overexpression of autologous murine 5T4 by B16 F10 melanoma cells and A9 L fibroblasts accentuates the 5T4 phenotype, which is characterized by a spindle-like morphology, increased motility, and reduced adhesion and proliferation rate. | NA | {
"id": 7162,
"name": "TPBG",
"pos": [
113,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
213,
8
]
} |
Thrb-/- mice provide a recessive model for the human syndrome of resistance to thyroid hormone (RTH) that exhibits a similar endocrine disorder but which is typically caused by dominant TRbeta mutants that are transcriptional inhibitors. | NA | {
"id": 7068,
"name": "THRB",
"pos": [
0,
4
]
} | {
"id": "C0014130",
"name": "Endocrine System Diseases",
"pos": [
125,
18
]
} |
There is a strong association between lipids (especially triglyceride-rich lipoproteins) and fibrinogen, PAI-1, and activation of factor VII. | NA | {
"id": 2155,
"name": "F7",
"pos": [
130,
10
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
93,
10
]
} |
The upregulated HO-1 expression in CRC cells markedly decreased the adhesion of peripheral blood mononuclear lymphocytes (PBMLs) to CRC cells and PBML-mediated cytotoxicity against CRC cells. | NA | {
"id": 3162,
"name": "HMOX1",
"pos": [
16,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
68,
8
]
} |
A wide variety of archival salivary gland tumors were tested for ETV6 translocation by break-apart fluorescent in situ hybridization. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
65,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
70,
13
]
} |
Cell lines, established from MHC class I-negative and -positive melanoma metastases, predominantly expressed MICA and ULBP2 molecules on their surface. | NA | {
"id": 80328,
"name": "ULBP2",
"pos": [
118,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
73,
10
]
} |
Furthermore, miR-211-5p decreased xenograft tumor weight and reduced <i>in vivo</i> tumor metastasis in mice. | biomarker | {
"id": 406993,
"name": "MIR211",
"pos": [
13,
7
]
} | {
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
96,
16
]
} |
Four children showing mild to profound prelingual deafness, confirmed by the absence of a clear and detectable responses at auditory brainstem responses (ABR), associated with the presence of bilateral OAE, were enrolled in the study. | NA | {
"id": 29,
"name": "ABR",
"pos": [
154,
3
]
} | {
"id": "C0011052",
"name": "Prelingual Deafness",
"pos": [
39,
19
]
} |
TPH*A containing variants may be a protective factor for depressive symptoms among male subjects with mood disorders or for a subtype of mood disorders characterized by a mainly manic form of symptomatology. | NA | {
"id": 7166,
"name": "TPH1",
"pos": [
0,
3
]
} | {
"id": "C0338831",
"name": "Manic",
"pos": [
178,
5
]
} |
In PCOS patients, visceral HSD11B1 expression correlated positively with waist circumference (p=0.001), BMI (p=0.002), plasma insulin (p<0.05), systolic blood pressure (p=0.003), and lipoprotein lipase (LPL), hormone-sensitive lipase (LIPE) and peroxisome-proliferator activated receptor γ gene expression. | NA | {
"id": 3290,
"name": "HSD11B1",
"pos": [
27,
7
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
73,
19
]
} |
Protocadherin X and Protocadherin Y (PCDHX and PCDHY) are cell-surface adhesion molecules expressed predominantly in the brain. | NA | {
"id": 83259,
"name": "PCDH11Y",
"pos": [
47,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
71,
8
]
} |
The objectives of this study were to investigate changes of pulmonary pathology and gene expressions, including endothelin (ET)-1, endothelin receptor A (ERA), inducible nitric oxide synthase (NOS2), endothelial nitric oxide synthase (NOS3), matrix metalloproteinase (MMP) 2, tissue inhibitor of matrix metalloproteinases (TIMP) and caspase 3, and to evaluate the effect of simvastatin on monocrotaline (M)-induced pulmonary hypertension. | NA | {
"id": 836,
"name": "CASP3",
"pos": [
333,
9
]
} | {
"id": "C0748168",
"name": "Pulmonary Pathology",
"pos": [
60,
19
]
} |
The over expression of long non-coding RNA ANRIL promotes epithelial-mesenchymal transition by activating the ATM-E2F1 signaling pathway in pancreatic cancer: An in vivo and in vitro study. | therapeutic | {
"id": 1869,
"name": "E2F1",
"pos": [
114,
4
]
} | {
"id": "C0153460",
"name": "Malignant neoplasm of tail of pancreas",
"pos": [
140,
17
]
} |
To this aim, we analyzed in fibroblast-like synoviocytes (FLS) from patients with rheumatoid arthritis (RA) or osteoarthritis (OA), the expression profile of TLR-pathway related molecules, as well as the alterations induced by LPS stimulation in RA-FLS and the effect of VIP treatment. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
271,
3
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
82,
20
]
} |
CTRP-3 is synthesized and secreted by MAT resected from patients with CD, ulcerative colitis (UC), CC, and sigma diverticulitis as well as by murine and human mature adipocytes. | NA | {
"id": 38,
"name": "ACAT1",
"pos": [
38,
3
]
} | {
"id": "C0012813",
"name": "Diverticulitis",
"pos": [
113,
14
]
} |
It is postulated that subjects with this genetic compound are more susceptible to the development of intermediate hyperhomocysteinemia despite normal folate and B12 levels. | NA | {
"id": 4709,
"name": "NDUFB3",
"pos": [
161,
3
]
} | {
"id": "C0598608",
"name": "Hyperhomocysteinemia",
"pos": [
114,
20
]
} |
(i) The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients, (ii) normal magnetic resonance imaging (MRI) findings, normal blood lactate value, and only mild decrease of cytochrome c oxidase (COX) activity are not sufficient reasons to forego SURF1 mutation analysis in differential diagnosis. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
172,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
224,
4
]
} |
These results suggest that pancreastatin and catecholamines may not play an important role in triggering insulin resistance, although they may be important once the syndrome is established. | NA | {
"id": 1113,
"name": "CHGA",
"pos": [
27,
13
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
105,
18
]
} |
Involvement of cathepsin B in the motor neuron degeneration of amyotrophic lateral sclerosis. | NA | {
"id": 1508,
"name": "CTSB",
"pos": [
15,
11
]
} | {
"id": "C0002736",
"name": "Amyotrophic Lateral Sclerosis",
"pos": [
63,
29
]
} |
The CDA A-76C, dCK C-1205T, RRM1 A33G, and hENT1 C913T genotypes were significantly associated with grade 3 to 4 neutropenia (P = .020, .015, .003, and .017, respectively).The CDA A-76C and hENT1 A-201G genotypes were significantly associated with tumor response to therapy (P = .017 and P = .019). | genomic_alterations | {
"id": 6240,
"name": "RRM1",
"pos": [
28,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
248,
5
]
} |
We have therefore sequenced the TERT promoter region of 20 cases of NVUC, 10 cases of LNVUC, 5 cases of von Brunn nests, 3 cases of cystitis cystica, 3 cases of cystitis glandularis, and 3 cases of nephrogenic adenoma. | NA | {
"id": 7015,
"name": "TERT",
"pos": [
32,
4
]
} | {
"id": "C0334039",
"name": "Nephrogenic metaplasia",
"pos": [
198,
19
]
} |
Male partners of subfertile couples with idiopathic azoo- or severe oligozoospermia, male partners with azoo- or severe oligozoospermia and cryptorchidism in their medical history and men with normozoospermia were screened for nine single nucleotide polymorphisms in the ZNF214 and ZNF215 genes. | genomic_alterations | {
"id": 7761,
"name": "ZNF214",
"pos": [
271,
6
]
} | {
"id": "C0010417",
"name": "Cryptorchidism",
"pos": [
140,
14
]
} |
The objective of this study was to compare the outcome of allo-SCT from T cell-replete haploidentical (Haplo) versus matched (MUD 10/10) or mismatched unrelated donor at a single HLA-locus (MMUD 9/10) for patients with acute leukemia in remission. | genomic_alterations | {
"id": 6343,
"name": "SCT",
"pos": [
63,
3
]
} | {
"id": "C0686586",
"name": "Acute leukemia in remission",
"pos": [
219,
27
]
} |
The four patients had typical skeletal and ocular phenotypes of OPS, namely severe juvenile osteoporosis and early-onset visual disturbance, with or without mental retardation. | NA | {
"id": 4041,
"name": "LRP5",
"pos": [
64,
3
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
157,
18
]
} |
Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR) pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexplained. | genomic_alterations | {
"id": 79728,
"name": "PALB2",
"pos": [
227,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
19,
13
]
} |
The transfer of EC-SOD transgenic MEF has shown a therapeutic effect in CIA mice and this approach may be a safer and more effective form of therapy for rheumatoid arthritis. | NA | {
"id": 2000,
"name": "ELF4",
"pos": [
34,
3
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
153,
20
]
} |
However, the association of polymorphisms in the aldosterone synthase gene (CYP11B2) with hypertension or cardiac hypertrophy remains controversial. | NA | {
"id": 1585,
"name": "CYP11B2",
"pos": [
76,
7
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
106,
19
]
} |
Keratinizing-type squamous cell carcinoma of the oropharynx: p16 overexpression is associated with positive high-risk HPV status and improved survival. | biomarker | {
"id": 1029,
"name": "CDKN2A",
"pos": [
61,
3
]
} | {
"id": "C0549523",
"name": "Oropharynx (excludes nasopharynx)",
"pos": [
49,
10
]
} |
There was a significant association between the dysbindin SNP rs3213207 and severity of both negative symptoms and total symptom load, as well as between the DAO SNP rs2070587 and total symptom score and severity of anxiety and depression. | NA | {
"id": 26,
"name": "AOC1",
"pos": [
158,
3
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
228,
10
]
} |
Moreover, Drosophila models for AR-JP, loss of function mutants of Drosophila parkin, also show dopaminergic neural degeneration associated with hyperactivation of JNK, increased apoptosis, and mitochondrial defects. | NA | {
"id": 5599,
"name": "MAPK8",
"pos": [
164,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
109,
19
]
} |
A recent study reported that long non-coding RNA activated by TGF-β (lncRNA-ATB) induced epithelial-mesenchymal transition (EMT) through the transforming growth factor-β (TGF-β)/miR-200s/ZEB axis in hepatocellular carcinoma. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
124,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
199,
24
]
} |
We found an in-frame, 12-bp deletion beginning at coding nucleotide 2013 in exon 7 of the AXIN2 gene, c.2013_2024del12 (p.Arg671_Pro674del), in two of 30 AA (7%), one of six ACC (17%), and the ACC H295R cell line. | genomic_alterations | {
"id": 8313,
"name": "AXIN2",
"pos": [
90,
5
]
} | {
"id": "C0206667",
"name": "Adrenal Cortical Adenoma",
"pos": [
154,
2
]
} |
Whereas in the absence of Mincle macrophages did not respond to TDM, Mincle-deficient mice were capable of mounting an efficient granulomatous and protective immune response after low and high dose infections with Mtb. | NA | {
"id": 26253,
"name": "CLEC4E",
"pos": [
69,
6
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
198,
10
]
} |
Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG). | biomarker | {
"id": 57211,
"name": "ADGRG6",
"pos": [
253,
6
]
} | {
"id": "C0027868",
"name": "Neuromuscular Diseases",
"pos": [
164,
21
]
} |
In this review, we will provide an overview of the EGFR pathway, review the significant somatic EGFR alterations in lung adenocarcinoma and highlight their implications for treatment. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
96,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
116,
19
]
} |
In addition, SElX is expressed by clinical isolates in vitro, and during human, bovine, and ovine infections, consistent with a broad role in S. aureus infections of multiple host species. | NA | {
"id": 51734,
"name": "MSRB1",
"pos": [
13,
4
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
152,
10
]
} |
Our results indicate that screening for the A1555G mutation is recommended among all Brazilian deaf patients, while testing for mutations in the tRNASer(UCN) gene should be considered only when other frequent deafness-causing mutations have been excluded or in the presence of a maternal transmission pattern. | NA | {
"id": 7349,
"name": "UCN",
"pos": [
153,
3
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
209,
8
]
} |
Furthermore, a dominant negative form of HIF-1α canceled hypoxia-enhanced AR transactivation, and HIF-1β/ARNT siRNAs had no influence on hypoxia-enhanced AR transactivation. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
41,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
137,
7
]
} |
These results suggest that UCP-3 regulation may be altered in states of insulin resistance. | NA | {
"id": 7350,
"name": "UCP1",
"pos": [
27,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
72,
18
]
} |
Gene-based analysis also revealed a significant association between CDH23 genotype and PA (p = 5.54 × 10<sup>-7</sup>). | genomic_alterations | {
"id": 64072,
"name": "CDH23",
"pos": [
68,
5
]
} | {
"id": "C0032000",
"name": "Pituitary Adenoma",
"pos": [
87,
2
]
} |
The mice then received tirapazamine (TPZ) with or without mild temperature hyperthermia (40 degrees C, 60 min) (MTH), gamma-ray irradiation with or without MTH and/or TPZ, cisplatin (CDDP) with or without MTH and/or TPZ, or paclitaxel (TXL) with or without MTH and/or TPZ. | NA | {
"id": 9352,
"name": "TXNL1",
"pos": [
236,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
58,
4
]
} |
The human promyelocytic leukemia zinc finger gene is regulated by the Evi-1 oncoprotein and a novel guanine-rich site binding protein. | biomarker | {
"id": 2122,
"name": "MECOM",
"pos": [
70,
5
]
} | {
"id": "C2745900",
"name": "Promyelocytic leukemia",
"pos": [
10,
22
]
} |
Our results also show that imatinib enhances TRAIL-induced cell death independently of BH3-interacting domain death agonist translocation, in a process involving the Bax:Bcl-X(L) ratio, Bax:Bcl-X(L)/Bcl-2 translocation, cytochrome c release and caspase activation. | NA | {
"id": 54205,
"name": "CYCS",
"pos": [
220,
12
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
124,
13
]
} |
Although various studies showed a certain association between genes encoding the IL-1 family and human malignancies, no data with respect to vulvar cancer have been published to date. | genomic_alterations | {
"id": 3552,
"name": "IL1A",
"pos": [
81,
4
]
} | {
"id": "C0677055",
"name": "CARCINOMA OF VULVA",
"pos": [
141,
13
]
} |
Nowadays the possible role of vasoactive peptide adrenomedullin (ADM) is considered in the etiology of preeclampsia (PE), where ADM is indicated to be a protective factor decreasing blood pressure. | NA | {
"id": 133,
"name": "ADM",
"pos": [
128,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
182,
14
]
} |
We analyzed for PIK3CA and KRAS mutations and LINE-1 methylation by Pyrosequencing, microsatellite instability (MSI), and DNA methylation (epigenetic changes) in eight CpG island methylator phenotype (CIMP)-specific promoters [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1] by MethyLight (real-time PCR). | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
258,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
84,
26
]
} |
This study sought to elucidate its role in tumor progression and prognosis of colorectal adenocarcinoma (CRA). | NA | {
"id": 51747,
"name": "LUC7L3",
"pos": [
105,
3
]
} | {
"id": "C1319315",
"name": "Adenocarcinoma of large intestine",
"pos": [
78,
25
]
} |
In non-PCOS participants, genetic variation in FTO is associated with insulin sensitivity (p=0.03). | NA | {
"id": 79068,
"name": "FTO",
"pos": [
47,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
70,
19
]
} |
However, the role of SR-A in autoimmune disease is unknown. | NA | {
"id": 4481,
"name": "MSR1",
"pos": [
21,
4
]
} | {
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
29,
18
]
} |
This study suggested that the IL-6-572GG genotype was associated with a higher risk of IA in a Chinese population. | genomic_alterations | {
"id": 3569,
"name": "IL6",
"pos": [
30,
4
]
} | {
"id": "C0007766",
"name": "Intracranial Aneurysm",
"pos": [
87,
2
]
} |
Knockdown of SOX9 expression down-regulated S100P expression, resulting in reduced invasiveness and metastasis of colon cancer cells by inhibiting the activation of receptor for advanced glycation end products (RAGE)/ERK signaling and epithelial-mesenchymal transition (EMT). | NA | {
"id": 6286,
"name": "S100P",
"pos": [
44,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
100,
10
]
} |
In Prx1 knockdown cells, the expression level of HO-1 was increased, while NFκB translocation and DNA binding activity were decreased after hypoxia or hypoxia/reoxygenation treatment. | NA | {
"id": 5396,
"name": "PRRX1",
"pos": [
3,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
80,
13
]
} |
The aim of this study was to investigate the effect of itraconazole (ITCZ), a potent inhibitor of CYP3A4 and P-glycoprotein, on the blood concentration 12 h after tacrolimus administration (C 12h) in relation to CYP3A5 6986A>G and ABCB1 3435C>T genotype status in patients with connective tissue disease (CTD). | genomic_alterations | {
"id": 1576,
"name": "CYP3A4",
"pos": [
98,
6
]
} | {
"id": "C0009782",
"name": "Connective Tissue Diseases",
"pos": [
284,
25
]
} |
This is the first report of "pure" proximal 12p-trisomy including p12.3-p11.22 region. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
72,
3
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
48,
7
]
} |
Targeting the replication of adenoviral gene therapy vectors to lung cancer cells: the importance of the adenoviral E1b-55kD gene. | NA | {
"id": 594,
"name": "BCKDHB",
"pos": [
116,
3
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
64,
11
]
} |
The microphthalmia with linear skin defects (MLS or MIDAS) syndrome is a rare X-linked dominant inherited disorder with male lethality, associated with segmental aneuploidy of the Xp22.2 region in most of the cases. | NA | {
"id": 64083,
"name": "GOLPH3",
"pos": [
52,
5
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
162,
10
]
} |
CONCLUSION: These data, taken together, have provided important insights on the probable functions of TSPY in cell cycle progression, cell proliferation, and tumorigenesis. | NA | {
"id": 7258,
"name": "TSPY1",
"pos": [
102,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
158,
13
]
} |
Modulation of the intestinal bile acid/farnesoid X receptor/fibroblast growth factor 15 axis improves alcoholic liver disease in mice. | biomarker | {
"id": 9213,
"name": "XPR1",
"pos": [
49,
10
]
} | {
"id": "C0023896",
"name": "Alcoholic Liver Diseases",
"pos": [
102,
23
]
} |
A histochemical and immunohistochemical study was performed on muscle biopsies from 17 patients with mitochondrial disease [chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF)] to evaluate the expression pattern and location of manganese superoxide dismutase (MnSOD), copper-zinc superoxide dismutase (CuZnSOD) and reduced glutathione (GSH) in skeletal muscle fibers. | NA | {
"id": 6648,
"name": "SOD2",
"pos": [
366,
30
]
} | {
"id": "C0162666",
"name": "Mitochondrial Encephalomyopathies",
"pos": [
177,
31
]
} |
Here we show that alpha-synuclein, a major constituent of Lewy bodies, induces inflammation in human microglial and human THP-1 cells. | NA | {
"id": 6622,
"name": "SNCA",
"pos": [
18,
15
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
79,
12
]
} |
As a consequence, P-Selectin deficient mice developed a progressive autoimmune syndrome showing skin alterations characteristic of lupus prone mice and elevated circulating autoantibodies, including anti-dsDNA. | genomic_alterations | {
"id": 6403,
"name": "SELP",
"pos": [
18,
10
]
} | {
"id": "C0024131",
"name": "Lupus Vulgaris",
"pos": [
131,
5
]
} |
Adenosine deaminase phenotype has been determined in 209 women with repeated episodes of unexplained spontaneous abortion (RSA) and their husbands, as well as in 115 healthy pregnant women from the population of Rome. | NA | {
"id": 100,
"name": "ADA",
"pos": [
0,
19
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
101,
20
]
} |
All mice expressing human group IIA PLA2 but none of the mice not expressing human group IIA PLA2 had marked pancreatic fibrosis. | NA | {
"id": 5319,
"name": "PLA2G1B",
"pos": [
93,
4
]
} | {
"id": "C0267952",
"name": "Fibrosis of pancreas",
"pos": [
109,
19
]
} |
We show here that HPIP expression is associated with stages of breast cancer where cell dissemination results in poor patient outcome. | NA | {
"id": 54985,
"name": "HCFC1R1",
"pos": [
18,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
63,
13
]
} |
Loss of heterozygosity (LOH) in the MEN1 region on chromosome 11q13 has been found in 30% of sporadic parathyroid tumors, making the recently cloned MEN1 gene a prime candidate for involvement in parathyroid tumorigenesis. | NA | {
"id": 4221,
"name": "MEN1",
"pos": [
149,
9
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
208,
13
]
} |
We conclude that the search for the factors and/or mechanisms that determine the stability of mutant PEX1 protein by high-throughput procedures will be a first step in the development of therapeutic strategies for patients with mild PBDs. | NA | {
"id": 5189,
"name": "PEX1",
"pos": [
101,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
228,
4
]
} |
The [(18)F]FDG uptake was significantly higher in EGFR-mutant (mean SUV(MAX) = 10.5 +/- 4.7) than wild-type (8.0 +/- 3.3) lung adenocarcinoma patients (P = 0.008). | NA | {
"id": 4149,
"name": "MAX",
"pos": [
72,
3
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
122,
19
]
} |
Codeletion of both Palb2 and Tumor protein 53 (Trp53) accelerated mammary tumor formation. | NA | {
"id": 79728,
"name": "PALB2",
"pos": [
19,
5
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
66,
13
]
} |
OBJECTIVE: The Notch signaling pathway has been well recognized as important adjuster in glioma tumorigenesis and could regulate the glioma cell proliferation through downstream factors such as epidermal growth factor receptor (EGFR). | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
228,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
96,
13
]
} |
Allele frequencies obtained for MICA-TM and MICB C1_2_A were compared to histopathological data regarding tumor invasion, disease progression, microsatellite instability, and the presence of KRAS mutations (codon 12) and analyzed for possible impact on tumor-related survival (n = 61). | NA | {
"id": 4277,
"name": "MICB",
"pos": [
44,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
143,
26
]
} |
The multifaceted role of periostin in tumorigenesis. | NA | {
"id": 10631,
"name": "POSTN",
"pos": [
25,
9
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
38,
13
]
} |
All eligible studies related to GST gene polymorphism and chemosensitivity in patients with osteosarcoma were screened and included in the current meta-analysis. | genomic_alterations | {
"id": 373156,
"name": "GSTK1",
"pos": [
32,
3
]
} | {
"id": "C0585442",
"name": "Osteosarcoma of bone",
"pos": [
92,
12
]
} |
Extracted DNA was analyzed for APC and DCC gene loss of heterozygosity, microsatellite instability and for the presence of Ki-ras gene mutation using standard molecular techniques. | NA | {
"id": 1630,
"name": "DCC",
"pos": [
39,
8
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
72,
26
]
} |
FLG mutations are associated not only with eczema-associated asthma susceptibility but also with asthma severity independent of eczema status. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
0,
3
]
} | {
"id": "C0013595",
"name": "Eczema",
"pos": [
128,
6
]
} |
Treated cells display increased doubling time and hypersensitivity to DNA damage that most likely results from downregulation of DNA-damage checkpoint genes, including YWAE (14-3-3epsilon protein) and DDIT3. | NA | {
"id": 1649,
"name": "DDIT3",
"pos": [
201,
5
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
50,
16
]
} |
The participants comprised 30 subjects with mild cognitive impairment (MCI) and 15 with mild AD who were examined using structural and perfusion-weighted magnetic resonance imaging (MRI) at 1.5 Tesla. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
182,
3
]
} | {
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
44,
25
]
} |
Variation in ADAMTS12, IL7R, and PTGER4 were also associated with asthma in the outbred Germans, and the frequencies of long-range haplotypes composed of SNPs at ZFR, ADAMTS12, IL7R, LIFR, and PTGER4 were significantly different between both the German and Hutterite cases and controls. | NA | {
"id": 51663,
"name": "ZFR",
"pos": [
162,
3
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
66,
6
]
} |
Therefore, therapeutic strategies to selectively inhibit anti-apoptotic signals in liver tumor cells have the potential to provide powerful tools to treat HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
155,
3
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
83,
11
]
} |
Furthermore, stress conditions (exposure to staurosporine and hypoxia induced by sodium azide) caused significant increase in ATF3 expression and induced apoptosis, whereas knockdown of KLF6 by small interference RNA blocked the increase of ATF3 as well as the induction of apoptosis in these conditions. | NA | {
"id": 1316,
"name": "KLF6",
"pos": [
186,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
62,
7
]
} |
Retinal ischemia and neovascularization were also studied in a murine model of oxygen-induced proliferative retinopathy (OIR) in wild-type and galectin-3 knockout mice (gal3(-/-)) after perfusion of preformed AGEs. | NA | {
"id": 3958,
"name": "LGALS3",
"pos": [
169,
4
]
} | {
"id": "C0339467",
"name": "Proliferative retinopathy",
"pos": [
94,
25
]
} |
We investigated the serum and CSF levels of adhesion molecules (E-selectin, L-selectin, vascular cell adhesion molecule-1 [VCAM-1], and intracellular adhesion molecule-1 [ICAM-1]) and cytokines (interleukin-12 [IL-12] and IL-4) in 105 children during an outbreak of enteroviral meningitis. | NA | {
"id": 6402,
"name": "SELL",
"pos": [
76,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
44,
8
]
} |
To determine if GGT7 is involved in GBM tumorigenesis, we modulated GGT7 expression in two GBM cell lines (U87-MG and U138) and monitored changes in tumorigenicity in vitro and in vivo. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
107,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
40,
13
]
} |
In these cells, which carry functional p53, HU treatment also led to nuclear accumulation of p53 and p21(WAF1), retinoblastoma hypophosphorylation, and downregulation of cyclin A. MCF-7 cells carrying a recombinant dominant-negative p53 mutant (vMCF-7(DNp53)) exhibited a shortened G(1) phase of the cell cycle and retained a normal centrosome phenotype. | NA | {
"id": 890,
"name": "CCNA2",
"pos": [
170,
8
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
112,
14
]
} |
There may be genetic heterogeneity in EGFR mutant tumors. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
38,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
50,
6
]
} |
We investigated A2756G-MS and folate/thiol status in 51 individuals who had experienced a thromboembolic event (TE) and 95 subjects being treated for non-thromboembolic (NTE) vascular problems. | NA | {
"id": 4907,
"name": "NT5E",
"pos": [
170,
3
]
} | {
"id": "C0040038",
"name": "Thromboembolism",
"pos": [
90,
20
]
} |
Surprisingly, mitochondrial fragmentation which occurred during ischemia and before Bax translocation could be reversed by the addition of the p38 inhibitor SB203580 at reperfusion. | NA | {
"id": 10598,
"name": "AHSA1",
"pos": [
143,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
64,
8
]
} |
Patients with methylmalonic acidemia (MMA) may develop many complications despite medical treatment, in particular, severe central nervous system damage and chronic kidney disease (CKD). | NA | {
"id": 23531,
"name": "MMD",
"pos": [
38,
3
]
} | {
"id": "C1561643",
"name": "Chronic Kidney Diseases",
"pos": [
157,
22
]
} |
KLK6 deserves further investigations as a potential biomarker of Tau pathology in AD. | biomarker | {
"id": 5653,
"name": "KLK6",
"pos": [
0,
4
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
82,
2
]
} |
Compound heterozygosity for R261Q and other mutations led in other patients either to classical PKU or to mild benign HPA. | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
118,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
106,
4
]
} |
Fatty acid binding protein 2 gene (FABP2) has been proposed to be an important candidate gene for insulin resistance; therefore, it also could be a promising candidate gene for obesity. | NA | {
"id": 2169,
"name": "FABP2",
"pos": [
35,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
98,
18
]
} |
The luciferase assays also confirm that miR-411 directly targets ABCG2 in ovarian cancer, and overall findings establish the SLC27A2-miR-411-ABCG2 pathway in the regulation of ovarian cancer chemo-resistance with potential therapeutic applications. | biomarker | {
"id": 11001,
"name": "SLC27A2",
"pos": [
125,
7
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
176,
14
]
} |
We utilized the microdialysis technique to monitor early changes in tumor necrosis-alpha (TNF-alpha) levels in the renal interstitial fluid and urine of conscious Sprague-Dawley rats (N = 8) before and after induction of diabetes with streptozotocin (STZ). | NA | {
"id": 6484,
"name": "ST3GAL4",
"pos": [
251,
3
]
} | {
"id": "C0333516",
"name": "Tumor necrosis",
"pos": [
68,
14
]
} |
To study the effect of apolipoprotein E epsilon4 status on biomarkers of neurodegeneration (atrophy on magnetic resonance imaging [MRI]), neuronal injury (cerebrospinal fluid [CSF] t-tau), and brain Abeta amyloid load (CSF Abeta(1-42)) in cognitively normal subjects (CN), amnestic subjects with mild cognitive impairment (aMCI), and patients with Alzheimer disease (AD). | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
131,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
73,
17
]
} |
Kaplan-Meier analysis showed that ileal resection was favoured both by CARD15 variant-carriage (P = 0.01) and by smoking (P = 0.05), but smoking did not affect progression to surgery in variant carriers (P = 0.31). | NA | {
"id": 64127,
"name": "NOD2",
"pos": [
71,
6
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
137,
7
]
} |
Interestingly, the prognostic performance of miR-210 was similar to several reported multi-gene signatures, highlighting its important role in BC differentiation and tumor progression. | biomarker | {
"id": 406992,
"name": "MIR210",
"pos": [
45,
7
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
143,
2
]
} |
Variants of genes AKAP6, NPAS3, MARCH6 and FBXL7 have been previously reported to be associated with insulin resistance, inflammatory markers or adiposity studies using genome-wide approaches whereas associations of CDH18 and MYO10 with MetS traits have not been reported before. | NA | {
"id": 4651,
"name": "MYO10",
"pos": [
226,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
101,
18
]
} |
Lysosome-related genes, such as CLN2, CLN3, and HEXB, may be involved in the pathogenesis of adipose tissue hypertrophy in TED. | NA | {
"id": 27112,
"name": "FAM155B",
"pos": [
123,
3
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
108,
11
]
} |
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