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|---|---|---|---|
IL28B-rs8099917 and IL10-1082 have been associated with perturbations of the Th1/Th2 balance, whilst TNFA-1031*CC associates with sensory neuropathy in HIV patients.
|
genomic_alterations
|
{
"id": 7124,
"name": "TNF",
"pos": [
101,
4
]
}
|
{
"id": "C0151313",
"name": "Sensory neuropathy",
"pos": [
130,
18
]
}
|
While NFKBIE deletions were infrequent in follicular lymphoma, splenic marginal zone lymphoma, and T-cell acute lymphoblastic leukemia (<2%), slightly higher frequencies were seen in diffuse large B-cell lymphoma, mantle cell lymphoma, and primary central nervous system lymphoma (3% to 4%).
|
genomic_alterations
|
{
"id": 4794,
"name": "NFKBIE",
"pos": [
6,
6
]
}
|
{
"id": "C0024301",
"name": "Lymphoma, Follicular",
"pos": [
42,
19
]
}
|
The use of endophenotypic markers for affective disorders such as the mood response to TRP depletion may facilitate studies of complex genetic traits such as depression by decreasing its heterogeneity.
|
NA
|
{
"id": 7306,
"name": "TYRP1",
"pos": [
87,
3
]
}
|
{
"id": "C0525045",
"name": "Mood Disorders",
"pos": [
38,
19
]
}
|
Sprague-Dawley rats were subjected to diffuse traumatic axonal injury (TAI) followed by 30 minutes of hypoxic (Hx, 12% O2) or normoxic ventilation, and were administered recombinant human EPO-α (5000 IU/kg) or saline at 1 and 24 hours post-injury.
|
NA
|
{
"id": 2056,
"name": "EPO",
"pos": [
188,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
102,
7
]
}
|
However, given current controversies over mandatory B12 fortification, further research to eliminate a causal role of B12 in prostate cancer initiation and/or progression is required.
|
NA
|
{
"id": 4709,
"name": "NDUFB3",
"pos": [
118,
3
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
125,
15
]
}
|
In normal Schwann cells and in NIH3T3 cells, PMP22 expression increases upon serum starvation-induced growth arrest.
|
NA
|
{
"id": 5376,
"name": "PMP22",
"pos": [
45,
5
]
}
|
{
"id": "C0038187",
"name": "Starvation",
"pos": [
83,
10
]
}
|
The present study was aimed at elucidating the role of two restriction fragment lengths (XbaI and PvuII) polymorphisms of the ER gene and the CAG repeat polymorphism of the AR gene as determinants of peak bone mass in men; special attention was paid to the interaction between serum free estradiol (E2) levels and the XbaI and PvuII genotypes.
|
NA
|
{
"id": 367,
"name": "AR",
"pos": [
174,
7
]
}
|
{
"id": "C0005938",
"name": "Bone Density",
"pos": [
206,
9
]
}
|
Genetic variations of the FTO gene were associated with obesity and type 2 diabetes determinants in the European population, notably raised blood levels of insulin and glucose.
|
genomic_alterations
|
{
"id": 79068,
"name": "FTO",
"pos": [
26,
3
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
68,
15
]
}
|
Tamoxifen-inducible COUP-TFII knockout mice were employed to test COUP-TFII functions on colon cancer metastasis in vivo.
|
NA
|
{
"id": 7026,
"name": "NR2F2",
"pos": [
66,
9
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
89,
12
]
}
|
Here, we extend the clinical and immunological phenotypic spectrum of LRBA associated disorders by reporting on three patients from two unrelated families who presented with splenomegaly and lymphadenopathy, cytopenia, elevated double negative T cells and raised serum Fas ligand levels resembling autoimmune lymphoproliferative syndrome (ALPS) and one asymptomatic patient.
|
NA
|
{
"id": 987,
"name": "LRBA",
"pos": [
71,
4
]
}
|
{
"id": "C0038002",
"name": "Splenomegaly",
"pos": [
175,
12
]
}
|
The present results indicated that mechanical allodynia progressively increased in bone cancer pain (BCP) rats.
|
NA
|
{
"id": 611,
"name": "OPN1SW",
"pos": [
101,
3
]
}
|
{
"id": "C2936719",
"name": "Mechanical Allodynia",
"pos": [
35,
20
]
}
|
VHL-R167Q binds elongin C and elongin B with considerably less avidity than wild-type VHL does but retains residual capacity to generate a VHL-elongin C-elongin B complex, downregulate HIF2α, and suppress tumorigenesis, which could be rescued by increase of VHL-R167Q levels.
|
genomic_alterations
|
{
"id": 6923,
"name": "ELOB",
"pos": [
30,
9
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
205,
13
]
}
|
Evidence has been presented that the interaction between von Willebrand factor (vWF) and its platelet membrane receptor, the GPIb/V/IX complex, plays an important role in the pathogenesis of arterial thrombosis.
|
NA
|
{
"id": 7450,
"name": "VWF",
"pos": [
57,
21
]
}
|
{
"id": "C0151942",
"name": "Arterial thrombosis",
"pos": [
191,
19
]
}
|
The aim of this study is to validate the multi-PRINS (primed in situ labelling) technique for simultaneous detection of chromosomes 18, X and Y in uncultured amniocytes for prenatal diagnosis of aneuploidy.
|
NA
|
{
"id": 100169750,
"name": "PRINS",
"pos": [
47,
5
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
195,
10
]
}
|
Relationship between the efficacy of rivastigmine and apolipoprotein E (epsilon4) in patients with mild to moderately severe Alzheimer disease.
|
NA
|
{
"id": 348,
"name": "APOE",
"pos": [
54,
16
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
99,
4
]
}
|
We performed single-marker and haplotype-based transmission disequilibrium tests (TDTs), and tested for evidence of interaction between MSX1 haplotypes and exposure to maternal smoking in the first trimester, using a case-only approach.
|
NA
|
{
"id": 4487,
"name": "MSX1",
"pos": [
136,
4
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
177,
7
]
}
|
Polymerase chain reaction (PCR) protocols have been developed to detect the t(14;18) translocation, which juxtaposes the bcl-2 proto-oncogene to the Ig heavy-chain (IgH) gene in 85% of follicular lymphomas and monoclonal rearrangements of the IgH gene in B-cell NHL that lack bcl-2 rearrangements.
|
NA
|
{
"id": 3492,
"name": "IGH",
"pos": [
243,
8
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
85,
13
]
}
|
Of particular interest in CIDP were tachykinin precursor 1, which may be involved in pain mediation, stearoyl-co-enzyme A (CoA) desaturase, which may be a marker for remyelination, HLA-DQB1, CD69, an early T-cell activation gene, MSR1, a macrophage scavenger receptor, and PDZ and LIM domain 5 (PDLIM5), a factor regulating nuclear factor (NF)-kappa B activity.
|
NA
|
{
"id": 969,
"name": "CD69",
"pos": [
191,
4
]
}
|
{
"id": "C0030193",
"name": "Pain",
"pos": [
85,
4
]
}
|
An understanding of PI3K dependent wiring of macrophage responses is important as this is involved in various diseases ranging from obesity, type 2 diabetes to chronic inflammatory disease.
|
biomarker
|
{
"id": 5294,
"name": "PIK3CG",
"pos": [
20,
4
]
}
|
{
"id": "C1290886",
"name": "Chronic inflammatory disorder",
"pos": [
160,
28
]
}
|
Increased risk of cancer in patients with fumarate hydratase germline mutation.
|
genomic_alterations
|
{
"id": 2271,
"name": "FH",
"pos": [
42,
18
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
18,
6
]
}
|
Our results indicate that inactivation of the RNASEL, ELAC2, or MSR1 genes by somatic mutation is a rare phenomenon in sporadic prostate cancer.
|
NA
|
{
"id": 4481,
"name": "MSR1",
"pos": [
64,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
119,
8
]
}
|
ACE genotypes influence the phenotypic expression of hypertrophy in HCM.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
0,
3
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
53,
11
]
}
|
She did not have a CASR mutation within the coding region and splice sites, and 24 members from three generations of her kindred were ascertained and investigated for serum abnormalities and cosegregation with polymorphic loci from chromosomes 3q21.1 and 19q13 using leukocyte DNA.
|
NA
|
{
"id": 846,
"name": "CASR",
"pos": [
19,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
173,
13
]
}
|
The development of invasive vulvar squamous cell carcinoma underlines the importance of including simplex VIN in the differential diagnosis of vulvar lesions, even at a young age.
|
NA
|
{
"id": 440900,
"name": "LINC01191",
"pos": [
106,
3
]
}
|
{
"id": "C0280856",
"name": "Squamous cell carcinoma of vulva",
"pos": [
28,
30
]
}
|
One third of Trypanosoma cruzi-infected individuals develop chronic Chagas disease cardiomyopathy (CCC) while the majority remains asymptomatic (ASY).
|
NA
|
{
"id": 57142,
"name": "RTN4",
"pos": [
145,
3
]
}
|
{
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
83,
14
]
}
|
In human endometrial cancer, p53 mutation is more often associated with aggressive nonendometrioid cancer.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
29,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
99,
6
]
}
|
The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene.
|
genomic_alterations
|
{
"id": 1277,
"name": "COL1A1",
"pos": [
103,
6
]
}
|
{
"id": "C0029434",
"name": "Osteogenesis Imperfecta",
"pos": [
16,
2
]
}
|
Sex-specific multivariable linear regression models showed that new and previously reported epipolymorphisms (ABCG1-CpGC3, LIPC-CpGA2, mean PLTP-CpGC, LPL-CpGA3, CETP-CpGA2, and CETP-CpGB2) significantly contribute to variations in plasma lipid levels (all P<0.001 in men and P<0.02 in women), independently of traditional predictors such as age, waist circumference, blood pressure, fasting plasma lipids and glucose levels.
|
NA
|
{
"id": 3990,
"name": "LIPC",
"pos": [
123,
4
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
368,
14
]
}
|
We investigated the relationship of ABCB1/MDR1, ABCC1/MRP1 and ABCG2/BCRP expression and promoter methylation with pancreatic cancer tumorigenesis and drug resistance.
|
NA
|
{
"id": 9429,
"name": "ABCG2",
"pos": [
69,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
133,
13
]
}
|
The EAATs, normally expressed in both glia (EAAT1 and EAAT2) and neurons (EAAT3 and EAAT4), have previously been implicated in Huntington's disease, amyotrophic lateral sclerosis, and schizophrenia.
|
biomarker
|
{
"id": 6506,
"name": "SLC1A2",
"pos": [
54,
5
]
}
|
{
"id": "C0020179",
"name": "Huntington Disease",
"pos": [
127,
20
]
}
|
In this study, we profiled the genome-wide DNA methylation status of naïve CD4+ T cells in patients with psoriasis or AD and healthy controls using a ChIP-seq method.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
75,
3
]
}
|
{
"id": "C0033860",
"name": "Psoriasis",
"pos": [
105,
9
]
}
|
This study was aimed to evaluate the role of MSP in alveolar macrophages (AM) isolated from healthy volunteers and patients with interstitial lung diseases (sarcoidosis, idiopathic pulmonary fibrosis), either smokers or non-smokers, by evaluating the respiratory burst, cytokine release and nuclear factor-kappa B (NF-kappaB) activation.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
315,
9
]
}
|
{
"id": "C0036202",
"name": "Sarcoidosis",
"pos": [
157,
11
]
}
|
Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of marrow failure, 20% of AML, and 30% of solid tumors (usually head and neck or gynecologic squamous cell carcinoma), by age 40, and they too are at risk of multiple adverse events.
|
genomic_alterations
|
{
"id": 2072,
"name": "ERCC4",
"pos": [
49,
5
]
}
|
{
"id": "C0280100",
"name": "Solid Neoplasm",
"pos": [
137,
12
]
}
|
In this report we performed a meta-analysis of public gene-array data on the expression of a group of TNFSF ligands (BAFF, APRIL, TWEAK) and their receptors (BAFF-R, TACI, BCMA, Fn14) in gliomas.
|
NA
|
{
"id": 10541,
"name": "ANP32B",
"pos": [
123,
5
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
187,
7
]
}
|
Of people who suspected depression (CESD-11>16), 32.6% experienced suicidal ideation, which is 12 times higher than that of total subjects.
|
genomic_alterations
|
{
"id": 3988,
"name": "LIPA",
"pos": [
36,
4
]
}
|
{
"id": "C0344315",
"name": "Depressed mood",
"pos": [
24,
10
]
}
|
The role of CART in humans and its potential contribution to abnormalities in feeding control are mostly unknown.
|
NA
|
{
"id": 9607,
"name": "CARTPT",
"pos": [
12,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
61,
13
]
}
|
EGCG rapidly induced mitochondria-localized reactive oxygen species in human oral squamous carcinoma cells (SCC-25, SCC-9) and premalignant leukoplakia cells (MSK-Leuk1), but not in normal human gingival fibroblast cells (HGF-1).
|
NA
|
{
"id": 150094,
"name": "SIK1",
"pos": [
159,
3
]
}
|
{
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
127,
12
]
}
|
In conclusion, our data suggests that the A2M D allele is a modest risk factor for late-onset sporadic AD in Koreans, and the AD risk conferred by the A2M D allele increases in APOE epsilon4 negative subjects.
|
NA
|
{
"id": 2,
"name": "A2M",
"pos": [
151,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
94,
8
]
}
|
Moreover, RTVP-1 plays a role in the effect of SRF on glioma cell migration.
|
NA
|
{
"id": 6722,
"name": "SRF",
"pos": [
47,
3
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
54,
6
]
}
|
Validation of the AFP model as a predictor of HCC recurrence in patients with viral hepatitis-related cirrhosis who had received a liver transplant for HCC.
|
genomic_alterations
|
{
"id": 174,
"name": "AFP",
"pos": [
18,
3
]
}
|
{
"id": "C1623038",
"name": "Cirrhosis",
"pos": [
102,
9
]
}
|
A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.
|
genomic_alterations
|
{
"id": 554,
"name": "AVPR2",
"pos": [
33,
31
]
}
|
{
"id": "C0677501",
"name": "Congenital Nephrogenic Diabetes Insipidus",
"pos": [
132,
41
]
}
|
Enhanced ALR gene expression was negatively correlated with advanced histopathological grade and stage in both colon cancer cell lines and human tissue samples, implicating ALR participation at the early stage of colon malignant progression.
|
NA
|
{
"id": 10327,
"name": "AKR1A1",
"pos": [
173,
3
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
111,
12
]
}
|
In addition, a nominally significant increase in the expression of several miRNAs was found in the 22q11.2 neurons that were previously found to be differentially expressed in autopsy samples and peripheral blood in SZ and autism spectrum disorders (e.g., miR-34, miR-4449, miR-146b-3p, and miR-23a-5p).
|
biomarker
|
{
"id": 407040,
"name": "MIR34A",
"pos": [
256,
6
]
}
|
{
"id": "C1510586",
"name": "Autism Spectrum Disorders",
"pos": [
223,
25
]
}
|
Within-person and between-person increases in knee pain and dysfunction were associated with LLS and LMQ, but not with LLM (all P < 0.05).
|
biomarker
|
{
"id": 29072,
"name": "SETD2",
"pos": [
93,
3
]
}
|
{
"id": "C0231749",
"name": "Knee pain",
"pos": [
46,
9
]
}
|
To better understand the pathogenesis and the geographical differences of cutaneous marginal zone B-cell lymphoma, 60 cases from the East Asia, Germany, and the United States at their initial presentation were subjected to the following analyses; (1) clinicopathological comparison between the geographical regions, (2) detection of B. burgdorferi DNA, (3) detection of the API2-MALT1 fusion transcript, a gene alteration specific to mucosa-associated lymphoid tissue lymphoma, and (4) inactivation of tumor suppressor genes (death-associated protein kinase (DAPK), p16(INK4a), p14(ARF), MGMT, TIMP3, CDH1, and RARB) by hypermethylation of the CpG islands.
|
genomic_alterations
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
570,
5
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
502,
5
]
}
|
Pearson's correlation analysis demonstrated that in women, serum RBP4 levels were significantly associated with fasting blood glucose (FBG), HOMA-β, and increment of first phase insulin secretion (1PH), but not associated with age, BMI, waist circumference, WHR, systolic (SBP) and diastolic blood pressure (DBP), TC, TG, HDL-c, LDL-c, 2 h blood glucose, HOMA-IR, ALT, AST, γ-GT, hepatic fat content (HFC), and insulin sensitivity index (ISI).
|
NA
|
{
"id": 1628,
"name": "DBP",
"pos": [
308,
3
]
}
|
{
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
237,
19
]
}
|
Whether DUSP6 has a protective effect on Aβ-induced NSC injury remains to be explored.
|
biomarker
|
{
"id": 1848,
"name": "DUSP6",
"pos": [
8,
5
]
}
|
{
"id": "C4479344",
"name": "SCLEROSING CHOLANGITIS, NEONATAL",
"pos": [
52,
3
]
}
|
We previously reported that Nm23-H1 exerts tumor suppressor action in prostate cancer cells and that h-Prune, which is overexpressed in various tumor types, binds Nm23-H1.
|
NA
|
{
"id": 58497,
"name": "PRUNE1",
"pos": [
101,
7
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
70,
15
]
}
|
Different missense mutations in p53 may confer unique activities and thereby offer insight into the mutagenic events that drive tumor progression.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
32,
3
]
}
|
{
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
128,
17
]
}
|
Many of these effects were abolished in plg<sup>-/-</sup> mice, suggesting plasmin as a key mediator of t-PA-induced immunosuppression.
|
biomarker
|
{
"id": 5340,
"name": "PLG",
"pos": [
87,
7
]
}
|
{
"id": "C4048329",
"name": "Immunosuppression",
"pos": [
129,
17
]
}
|
The abundance of the adiponectin receptors, AdipoR1 and AdipoR2, and the effects of the antidiabetic adipokine adiponectin in monocytes of normal-weight and overweight controls and type 2 diabetic patients (T2D) were analyzed.
|
NA
|
{
"id": 51094,
"name": "ADIPOR1",
"pos": [
44,
7
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
146,
6
]
}
|
ALDH appears to be involved in the interaction between lung and OS cells, and ALP may be a valuable biomarker for monitoring functional OS changes during metastasis.
|
biomarker
|
{
"id": 27295,
"name": "PDLIM3",
"pos": [
78,
3
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
154,
10
]
}
|
Thus, we investigated how genetic variation in the GNB3 gene is associated with hypertension, obesity, insulin resistance, diabetes, diabetic complications, and diabetic therapies in 427 Japanese subjects with type 2 diabetes mellitus and in 368 Japanese subjects who underwent general health examinations.
|
NA
|
{
"id": 2784,
"name": "GNB3",
"pos": [
51,
9
]
}
|
{
"id": "C0342257",
"name": "Complications of Diabetes Mellitus",
"pos": [
133,
22
]
}
|
ATM has a major role in the double-strand break repair pathway dysregulation in sporadic breast carcinomas and is an independent prognostic marker at both mRNA and protein levels.
|
NA
|
{
"id": 472,
"name": "ATM",
"pos": [
0,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
80,
8
]
}
|
One hundred and fourteen cases of epithelial neoplasms, including seborrheic keratosis (SEB), basal cell carcinomas (BCCs), solar keratosis (SK), Bowen's disease (BD), and squamous cell carcinomas (SCCs) were examined using argyrophilic nucleolar organizer region (AgNOR) staining.
|
NA
|
{
"id": 26040,
"name": "SETBP1",
"pos": [
88,
3
]
}
|
{
"id": "C0022602",
"name": "Actinic keratosis",
"pos": [
124,
15
]
}
|
Interestingly, in some studies, TERT mutations were found to be more common in tumors with a BRAF(V600E) mutation.
|
genomic_alterations
|
{
"id": 673,
"name": "BRAF",
"pos": [
93,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
79,
6
]
}
|
The PSS-4 scores showed a positive correlation with the SCL 90-R anxiety and depression scales.
|
biomarker
|
{
"id": 1475,
"name": "CSTA",
"pos": [
4,
5
]
}
|
{
"id": "C0011570",
"name": "Mental Depression",
"pos": [
77,
10
]
}
|
In contrast, miR-193a was associated with better overall survival but not leukemia free survival.
|
biomarker
|
{
"id": 406968,
"name": "MIR193A",
"pos": [
13,
8
]
}
|
{
"id": "C1332977",
"name": "Childhood Leukemia",
"pos": [
74,
8
]
}
|
Among identified psoriasis risk variants, three were more strongly associated with PsC than PsA (rs12189871 near HLA-C, p = 5.0 × 10(-19); rs4908742 near TNFRSF9, p = 0.00020; rs10888503 near LCE3A, p = 0.0014), and two were more strongly associated with PsA than PsC (rs12044149 near IL23R, p = 0.00018; rs9321623 near TNFAIP3, p = 0.00022).
|
genomic_alterations
|
{
"id": 353142,
"name": "LCE3A",
"pos": [
192,
5
]
}
|
{
"id": "C0033860",
"name": "Psoriasis",
"pos": [
17,
9
]
}
|
The capacity of R. conorii to down-regulate endothelial-derived DKK-1 and the ability of silencing DKK-1 to attenuate R. conorii-induced inflammation in endothelial cells could potentially reflect a novel mechanism by which R. conorii escapes the immune response at the site of infection.
|
NA
|
{
"id": 22943,
"name": "DKK1",
"pos": [
99,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
137,
12
]
}
|
Thus, deficiency of the transcription factor NF-E2-related factor-2 (Nrf2), guardian of redox homeostasis, results in exacerbated inflammatory response to neurotoxins whereas inducers of Nrf2 and its target heme oxygenase-1 downmodulate inflammation.
|
NA
|
{
"id": 4778,
"name": "NFE2",
"pos": [
45,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
237,
12
]
}
|
Identification of Orch3, a locus controlling dominant resistance to autoimmune orchitis, as kinesin family member 1C.
|
NA
|
{
"id": 10749,
"name": "KIF1C",
"pos": [
92,
24
]
}
|
{
"id": "C0029191",
"name": "Orchitis",
"pos": [
79,
8
]
}
|
Twelve normal skin specimens, 12 specimens of psoriasis, 21 specimens of bowenoid papulosis (BP), 16 specimens of Bowen's disease (BD), 38 specimens of skin squamous cell carcinoma (SCC), and 11 specimens of basal cell carcinoma (BCC) were subjected to immunohistochemical staining for MCM5 and PCNA.
|
NA
|
{
"id": 5111,
"name": "PCNA",
"pos": [
295,
4
]
}
|
{
"id": "C0553723",
"name": "Squamous cell carcinoma of skin",
"pos": [
152,
28
]
}
|
We compared the PCA3 scores in men with a negative biopsy (normal parenchyma, benign prostatic hyperplasia [BPH], chronic prostatitis, high-grade prostate intraepithelial neoplasia [HG-PIN]) with those in men with a positive biopsy.
|
NA
|
{
"id": 50652,
"name": "PCA3",
"pos": [
16,
4
]
}
|
{
"id": "C0878500",
"name": "Intraepithelial Neoplasia",
"pos": [
155,
25
]
}
|
The N363S polymorphism of the glucocorticoid receptor: potential contribution to central obesity in men and lack of association with other risk factors for coronary heart disease and diabetes mellitus.
|
NA
|
{
"id": 2908,
"name": "NR3C1",
"pos": [
30,
23
]
}
|
{
"id": "C0311277",
"name": "Obesity, Abdominal",
"pos": [
81,
15
]
}
|
Elevated levels of prostate-specific antigen (PSA) in prostate cancer cells expressing mutant p53 is associated with tumor metastasis.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
94,
3
]
}
|
{
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
117,
16
]
}
|
A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.
|
NA
|
{
"id": 114788,
"name": "CSMD3",
"pos": [
19,
5
]
}
|
{
"id": "C0017547",
"name": "Gigantism",
"pos": [
8,
5
]
}
|
Brain CD8+ and cytotoxic T lymphocytes are associated with, and may be specific for, human immunodeficiency virus type 1 encephalitis in patients with acquired immunodeficiency syndrome.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
6,
3
]
}
|
{
"id": "C0001175",
"name": "Acquired Immunodeficiency Syndrome",
"pos": [
151,
34
]
}
|
A Cox proportional hazards model, stratified by gender, was used to determine the relationship between GRK4 variants and time to reach a mean arterial pressure (MAP) of 107 mm Hg, adjusted for other predictors of blood pressure response.
|
NA
|
{
"id": 2868,
"name": "GRK4",
"pos": [
103,
4
]
}
|
{
"id": "C0428886",
"name": "Mean blood pressure",
"pos": [
137,
22
]
}
|
These results indicate that neuropathic pain does not act via the HPA-axis or the EWcp, but includes a main role of Crf in the limbic system, which is in clear contrast to stressors like acute and chronic pain, which primarily act on the PVN and the EWcp.
|
NA
|
{
"id": 10855,
"name": "HPSE",
"pos": [
66,
3
]
}
|
{
"id": "C0150055",
"name": "Chronic pain",
"pos": [
197,
12
]
}
|
Mutations in the CDKL5 gene have been associated with an X-linked dominant early infantile epileptic encephalopathy-2.
|
genomic_alterations
|
{
"id": 6792,
"name": "CDKL5",
"pos": [
17,
5
]
}
|
{
"id": "C1839333",
"name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2",
"pos": [
75,
42
]
}
|
This study presents additional support for our previous findings about the importance of IL-10 family cytokines in vitiligo, in particular the possible involvement of IL-22.
|
NA
|
{
"id": 53342,
"name": "IL17D",
"pos": [
167,
5
]
}
|
{
"id": "C0042900",
"name": "Vitiligo",
"pos": [
115,
8
]
}
|
STAT3 Modulation of Regulatory T Cells in Response to Radiation Therapy in Head and Neck Cancer.
|
biomarker
|
{
"id": 6774,
"name": "STAT3",
"pos": [
0,
5
]
}
|
{
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
75,
20
]
}
|
The percentage of nuclear HIF-1α expression was higher in the BRCA1-2 carriers than in BRCAX cancers (p<0.05), and in all familial than in sporadic tumor tissues (p = 0.0045).
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
62,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
139,
8
]
}
|
Furthermore, we demonstrate, through the use of wild-type and dominant-negative HDAC1 expression plasmids, that HDAC1 is sufficient to activate FoxO and induce muscle fiber atrophy in vivo and is necessary for the atrophy of muscle fibers that is associated with muscle disuse.
|
NA
|
{
"id": 3065,
"name": "HDAC1",
"pos": [
112,
5
]
}
|
{
"id": "C0333751",
"name": "Muscle fiber atrophy",
"pos": [
160,
20
]
}
|
Molecular genetic alterations reported in association with pterygium include loss of heterozygosity (LOH), point mutations of proto-oncogenes, such as K-ras and alterations in the expression of tumor suppressor genes, such as p53 or p63.
|
genomic_alterations
|
{
"id": 6121,
"name": "RPE65",
"pos": [
233,
3
]
}
|
{
"id": "C0033999",
"name": "Pterygium",
"pos": [
59,
9
]
}
|
We investigated whether this was associated with mutations in TP53, the gene for p53, and might implicate impending malignancy.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
62,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
116,
10
]
}
|
Recently, increasing evidences have shown that IF1 is overexpressed in human cancers and promotes tumor growth and metastasis.
|
NA
|
{
"id": 93974,
"name": "ATP5IF1",
"pos": [
47,
3
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
77,
7
]
}
|
Treatment with AAV-BDNF significantly increased the migration of SVZ cells in the stroke brain in vitro.
|
NA
|
{
"id": 17,
"name": "AAVS1",
"pos": [
15,
3
]
}
|
{
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
82,
6
]
}
|
Targeting signal transducer and activator of transcription 3 with G-quartet oligonucleotides: a potential novel therapy for head and neck cancer.
|
biomarker
|
{
"id": 6774,
"name": "STAT3",
"pos": [
10,
50
]
}
|
{
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
124,
20
]
}
|
IL-16 plays an important role in affect the secretion of tumor-related inflammatory cytokines.
|
biomarker
|
{
"id": 3603,
"name": "IL16",
"pos": [
0,
5
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
57,
5
]
}
|
ATP and UTP induced the increase in the intracellular concentrations of Ca2+ and inositol-1,4,5-trisphosphate in both mammary tumor cells and P2U-receptor-expressed K562 cells.
|
NA
|
{
"id": 5029,
"name": "P2RY2",
"pos": [
142,
3
]
}
|
{
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
118,
13
]
}
|
Aberrant expression of ROS1, ALK or c-MET (RAM) is implicated in carcinogenesis and cancer drug resistance.
|
biomarker
|
{
"id": 137196,
"name": "CCDC26",
"pos": [
43,
3
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
84,
6
]
}
|
Intestinal and hepatic expression of BNIP3 in necrotizing enterocolitis: regulation by nitric oxide and peroxynitrite.
|
NA
|
{
"id": 664,
"name": "BNIP3",
"pos": [
37,
5
]
}
|
{
"id": "C0520459",
"name": "Necrotizing Enterocolitis",
"pos": [
46,
25
]
}
|
X-linked lymphoproliferative (XLP) syndrome is an extremely rare inherited immunodeficiency disease characterized by severe immune dysregulation caused by mutations in signaling lymphocyte activation molecule (SLAM) associated protein (SAP) gene.
|
NA
|
{
"id": 4068,
"name": "SH2D1A",
"pos": [
236,
3
]
}
|
{
"id": "C1844666",
"name": "Immune dysregulation",
"pos": [
124,
20
]
}
|
A Fas-associated via death domain promoter polymorphism (rs10898853, -16C/T) as a risk factor for papillary thyroid cancer.
|
NA
|
{
"id": 8772,
"name": "FADD",
"pos": [
2,
31
]
}
|
{
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
98,
24
]
}
|
Since then, mutations in several other genes have been identified for FTD with parkinsonism, including chromosome 9 open reading frame 72 (C9ORF72), chromatin modifying protein 2B (CHMP2B), valosin-containing protein (VCP), fused in sarcoma (FUS) and transactive DNA-binding protein (TARDBP).
|
NA
|
{
"id": 25978,
"name": "CHMP2B",
"pos": [
182,
6
]
}
|
{
"id": "C1261473",
"name": "Sarcoma",
"pos": [
234,
7
]
}
|
Non-coding RNA NEAT1/miR-214-3p contribute to doxorubicin resistance of urothelial bladder cancer preliminary through the Wnt/β-catenin pathway.
|
biomarker
|
{
"id": 406996,
"name": "MIR214",
"pos": [
21,
7
]
}
|
{
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
83,
14
]
}
|
Alanine-glyoxylate aminotransferase is a peroxisomal enzyme, of which various missense mutations lead to irreversible kidney damage via primary hyperoxaluria type 1, in part caused by improper peroxisomal targeting.
|
NA
|
{
"id": 189,
"name": "AGXT",
"pos": [
136,
28
]
}
|
{
"id": "C1408258",
"name": "Kidney damage",
"pos": [
118,
13
]
}
|
The authors report two cases of epidermal growth factor receptor gene (EGFR)-mutant stage IV lung adenocarcinomas developing immunohistochemically proven squamous cell carcinoma (SCC) "transformation" concurrently with T790M EGFR mutation, leading to acquired resistance to EGFR inhibitors.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
32,
32
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
93,
20
]
}
|
In this review, an update of the most recent data on promising biological prognostic and/or predictive markers, including microsatellite instability, epidermal growth factor receptor, KRAS, BRAF, CpG island methylator phenotype, cytotoxic T lymphocytes, forkhead box P3-positive T cells, receptor for hyaluronic acid-mediated motility, phosphatase and tensin homolog, and T-cell originated protein kinase, in patients with CRC is provided.
|
NA
|
{
"id": 50943,
"name": "FOXP3",
"pos": [
254,
15
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
122,
26
]
}
|
Persephin (Pspn), a recently cloned member of the transforming growth factor-beta superfamily (TGF-beta) and glial cell line-derived neurotrophic factor (GDNF) subfamily, is distributed throughout the nervous system at extremely low levels and is thought to function as a survival factor for midbrain dopaminergic and spinal motor neurons in vivo.
|
NA
|
{
"id": 7040,
"name": "TGFB1",
"pos": [
95,
8
]
}
|
{
"id": "C0422837",
"name": "Neurological observations",
"pos": [
201,
14
]
}
|
The frequency of ARID5B and BMI1-PIP4K2A variants differed by ethnicity, in parallel with ethnic differences in ALL incidence.
|
genomic_alterations
|
{
"id": 5305,
"name": "PIP4K2A",
"pos": [
33,
7
]
}
|
{
"id": "C0751606",
"name": "Adult Acute Lymphocytic Leukemia",
"pos": [
112,
3
]
}
|
Importantly, we demonstrate that conditional IFN receptor knockout mice generate a better immune response to live virus and a candidate dengue vaccine compared to IFNAR mice and are resistant to subsequent challenge.
|
biomarker
|
{
"id": 3447,
"name": "IFNA13",
"pos": [
45,
3
]
}
|
{
"id": "C0011311",
"name": "Dengue Fever",
"pos": [
136,
6
]
}
|
Glucose transporter 4 (GLUT4) is a principal glucose transporter in response to insulin, and impaired translocation or decreased expression of GLUT4 is believed to be one of the major pathological features of type 2 diabetes mellitus (T2DM).
|
NA
|
{
"id": 6517,
"name": "SLC2A4",
"pos": [
143,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
102,
13
]
}
|
The interaction between fibroblasts and mast cells or T cells through CD40-CD154 signaling is critical for fibroblast activation early in the course of fibrosis.
|
NA
|
{
"id": 959,
"name": "CD40LG",
"pos": [
75,
5
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
152,
8
]
}
|
The RB1 mutation incidence was comparatively higher (25%) in nonfamilial Rb with emphasis on high prevalence in sporadic URB (18% versus 0%-9% in the literature series).
|
NA
|
{
"id": 151887,
"name": "CCDC80",
"pos": [
121,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
112,
8
]
}
|
This finding can be interpreted as a constriction in the Alu2 sequence variation as a consequence of a functional role of this element in the APP expression.
|
NA
|
{
"id": 351,
"name": "APP",
"pos": [
142,
3
]
}
|
{
"id": "C1261287",
"name": "Stenosis",
"pos": [
37,
12
]
}
|
All the tumors associated with SDHD mutations were benign.
|
genomic_alterations
|
{
"id": 6392,
"name": "SDHD",
"pos": [
31,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
8,
6
]
}
|
The NAT2 fast acetylator genotype seemed to be protective against lung cancer in light smokers (< or =20 cigarettes/day) and not among heavy smokers (>20 cigarettes/day).
|
genomic_alterations
|
{
"id": 10,
"name": "NAT2",
"pos": [
4,
4
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
66,
11
]
}
|
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