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|---|---|---|---|
IL-10, IL-9 and IL-15-mediated JAK/STAT signalling was shown to be involved in the pathological amplification of IFN responses observed in SLE.
|
biomarker
|
{
"id": 3600,
"name": "IL15",
"pos": [
16,
5
]
}
|
{
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
139,
3
]
}
|
The T→C transition at nucleotide 348 in HSF4b led to 18 differentially expressed proteins in SRA 01/04, among which serpin H1 precursor, heat shock protein beta-1, and stress-70 protein belong to heat shock protein families.
|
NA
|
{
"id": 4481,
"name": "MSR1",
"pos": [
93,
3
]
}
|
{
"id": "C0036974",
"name": "Shock",
"pos": [
201,
5
]
}
|
Here, we describe methods for immunohistochemical detection of HIF-1alpha in tumor biopsy sections and ex vivo assays for analyzing the effects of hypoxia and HIF-1 on cancer cell invasiveness and cell-cell adhesion.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
63,
10
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
147,
7
]
}
|
The expression of E-cadherin and beta-catenin in the eutopic and ectopic endometrium was studied in 40 patients with adenomyosis and 12 without this condition, by using an immunohistochemical test and enzyme immunoassay.
|
NA
|
{
"id": 999,
"name": "CDH1",
"pos": [
18,
10
]
}
|
{
"id": "C0341858",
"name": "Endometriosis of uterus",
"pos": [
117,
11
]
}
|
Therefore the current study was conducted to investigate whether Arl4c might be involved in tumorigenesis.
|
NA
|
{
"id": 10123,
"name": "ARL4C",
"pos": [
65,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
92,
13
]
}
|
A B-RAF or N-RAS mutation was found in 8 of 23 (35%) spitzoid lesions suspected for melanoma.
|
genomic_alterations
|
{
"id": 4893,
"name": "NRAS",
"pos": [
11,
5
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
84,
8
]
}
|
The objective of this study was to evaluate the interaction between the length polymorphism of the guanosine thymidine repeat [(GT)n] in the heme oxygenase-1 (HO-1) gene and far-infrared (FIR) therapy on access flow (Qa) and arteriovenous fistula (AVF) patency in hemodialysis (HD) patients.
|
NA
|
{
"id": 9855,
"name": "FARP2",
"pos": [
188,
3
]
}
|
{
"id": "C0003855",
"name": "Arteriovenous fistula",
"pos": [
225,
21
]
}
|
In this study, we have studied a novel RON variant (designated as RONdelta170) that regulates tumorigenic activities of colorectal cancer cells by blocking RON-mediated tumorigenic signals.
|
genomic_alterations
|
{
"id": 4486,
"name": "MST1R",
"pos": [
39,
3
]
}
|
{
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
120,
17
]
}
|
Use of HBA 71 and anti-beta 2-microglobulin to distinguish peripheral neuroepithelioma from neuroblastoma.
|
NA
|
{
"id": 85340,
"name": "KRT90P",
"pos": [
7,
3
]
}
|
{
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
92,
13
]
}
|
In 16 sarcoidosis, 7 idiopathic pulmonary fibrosis (IPF) and 8 hypersensitivity pneumonitis (HP) patients we evaluated IL-1 alpha, -1R, -1RA, -2, -4, -4R alpha, -6, -10, -12, IFN-gamma, TGF-beta1 and TNF-alpha gene polymorphisms in peripheral blood, and MCP-1,MIP-1 alpha, MIP-1 beta, RANTES, ENA-78, FGF, G-CSF, GM-CSF, IFN-gamma, IL-1 alpha, IL-1RA, IL-1 beta, -2, -4, -5, -6, -8, -10, -17, TNF-alpha, Tpo and VEGF values in BALF.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
321,
3
]
}
|
{
"id": "C0002390",
"name": "Extrinsic allergic alveolitis",
"pos": [
63,
28
]
}
|
Here, we investigated the role of UCH-L1 in podocyte hypertrophy and in the homeostasis of the hypertrophy associated "model protein" p27(Kip1).
|
NA
|
{
"id": 10671,
"name": "DCTN6",
"pos": [
134,
3
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
95,
11
]
}
|
Multivariate analysis using the Cox regression model disclosed that age at surgery, metastasis, and expression status of MRP1/CD9 were significant prognostic factors for disease-free survival.
|
NA
|
{
"id": 928,
"name": "CD9",
"pos": [
126,
3
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
36,
10
]
}
|
To test the hypothesis that genetic polymorphisms in the CYP1A1 gene may be associated with the risk for CaP, we compared the allele, genotype and haplotype frequencies of 3 SNPs (3801T>C, 2455A>G and 2453C>A) of CYP1A1 among 159 HPC probands, 245 sporadic CaP cases and 222 unaffected men.
|
NA
|
{
"id": 1543,
"name": "CYP1A1",
"pos": [
213,
6
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
248,
8
]
}
|
Receiver operating characteristic curves for differentiating HCCfrom liver cirrhosis revealed a higher area under the curve(AUC).for vimentin than for AFP, lamin B1, and anti-Ku86 for the diagnosis of HCC (P<0.001).
|
biomarker
|
{
"id": 7520,
"name": "XRCC5",
"pos": [
175,
4
]
}
|
{
"id": "C0023890",
"name": "Liver Cirrhosis",
"pos": [
69,
15
]
}
|
Lentiviral delivery of meteorin protects striatal neurons against excitotoxicity and reverses motor deficits in the quinolinic acid rat model.
|
NA
|
{
"id": 79006,
"name": "METRN",
"pos": [
23,
8
]
}
|
{
"id": "C0521654",
"name": "Neurologic Deficits",
"pos": [
94,
14
]
}
|
The purpose of this study was to determine whether PIK3CA mutations are present in tissues outside of the subcutaneous adipose.MethodsFIL tissues from three patients were dissected to enrich for cells from skin, subcutaneous tissue, orbicularis oris muscle, buccal fat, zygomatic bone, and mucosal neuroma.
|
genomic_alterations
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
51,
6
]
}
|
{
"id": "C0023804",
"name": "Lipomatosis, Multiple Symmetrical",
"pos": [
134,
3
]
}
|
Inhibin-α, E-cadherin, calretinin and Ki-67 antigen in the immunohistochemical evaluation of canine and human testicular neoplasms.
|
NA
|
{
"id": 999,
"name": "CDH1",
"pos": [
11,
10
]
}
|
{
"id": "C0039590",
"name": "Testicular Neoplasms",
"pos": [
110,
20
]
}
|
IL13 R130Q/IL4RA S478P or IL13 R130Q//IL4RA Q551R were significant predictors of the decrease of forced expiratory volume and forced vital capacity (P ≤ .006).
|
NA
|
{
"id": 3566,
"name": "IL4R",
"pos": [
38,
5
]
}
|
{
"id": "C0016529",
"name": "Forced expiratory volume function",
"pos": [
97,
24
]
}
|
This oxidative stress disrupted mTorc2 and impaired mTorc2/Akt signaling in other insulin-sensitive organs, leading to insulin resistance that could be largely reversed with antioxidant treatment.
|
NA
|
{
"id": 2475,
"name": "MTOR",
"pos": [
52,
6
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
119,
18
]
}
|
Apolipoprotein B VNTR alleles containing more than 35 repeat units are a significant risk factor for heart disease.
|
genomic_alterations
|
{
"id": 338,
"name": "APOB",
"pos": [
0,
16
]
}
|
{
"id": "C0018799",
"name": "Heart Diseases",
"pos": [
101,
13
]
}
|
Thiocyanate-dependent induction of endothelial cell adhesion molecule expression by phagocyte peroxidases: a novel HOSCN-specific oxidant mechanism to amplify inflammation.
|
NA
|
{
"id": 90952,
"name": "ESAM",
"pos": [
35,
34
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
159,
12
]
}
|
The correlations between GSTM1/GSTT1 genotypes and alterations of indices of oxidative stress and inflammation were analyzed.
|
NA
|
{
"id": 2952,
"name": "GSTT1",
"pos": [
31,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
98,
12
]
}
|
Sarcomatoid carcinoma of the lung (LSC) is a rare lung cancer characterized by an admixture of carcinoma and sarcoma components.
|
NA
|
{
"id": 9138,
"name": "ARHGEF1",
"pos": [
35,
3
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
95,
9
]
}
|
We identified significant associations between LEPTIN single nucleotide polymorphisms with blood pressure and hypertension, but in postmenopausal women only.
|
NA
|
{
"id": 3952,
"name": "LEP",
"pos": [
47,
6
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
91,
14
]
}
|
Microsatellite instability in Japanese hereditary non-polyposis colorectal cancer does not induce mutation of a simple repeat sequence of the bax gene.
|
NA
|
{
"id": 581,
"name": "BAX",
"pos": [
142,
8
]
}
|
{
"id": "C0334108",
"name": "Multiple polyps",
"pos": [
54,
9
]
}
|
Truncation mutations of ASXL1 occur in colorectal cancers with microsatellite instability (MSI), malignant myeloid diseases, chronic lymphocytic leukaemia, head and neck squamous cell carcinoma, and liver, prostate and breast cancers; those of ASXL2 occur in prostate cancer, pancreatic cancer and breast cancer and those of ASXL3 are observed in melanoma.
|
NA
|
{
"id": 80816,
"name": "ASXL3",
"pos": [
325,
5
]
}
|
{
"id": "C1168401",
"name": "Squamous cell carcinoma of the head and neck",
"pos": [
156,
37
]
}
|
These studies found that IL36RN mutations account for only a fraction of GPP cases presenting with concomitant psoriasis vulgaris (PV; common or typical psoriasis).
|
genomic_alterations
|
{
"id": 26525,
"name": "IL36RN",
"pos": [
25,
6
]
}
|
{
"id": "C0263361",
"name": "Psoriasis vulgaris",
"pos": [
111,
18
]
}
|
Polymorphisms in the inflammatory genes CIITA, CLEC16A and IFNG influence BMD, bone loss and fracture in elderly women.
|
NA
|
{
"id": 23274,
"name": "CLEC16A",
"pos": [
47,
7
]
}
|
{
"id": "C0029453",
"name": "Osteopenia",
"pos": [
79,
9
]
}
|
We observed that cyclin A1 (CCNA1) protein expression was relatively higher in prostate cancer metastatic lesions in lymph node, lung, and bone/bone marrow.
|
NA
|
{
"id": 8900,
"name": "CCNA1",
"pos": [
28,
5
]
}
|
{
"id": "C0936223",
"name": "Metastatic Prostate Carcinoma",
"pos": [
79,
26
]
}
|
Using human SMCs, human arterial tissue, and mouse models, we report that SMC plasticity is governed by the DNA-modifying enzyme ten-eleven translocation-2 (TET2).
|
NA
|
{
"id": 54790,
"name": "TET2",
"pos": [
157,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
140,
13
]
}
|
PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas.
|
NA
|
{
"id": 5727,
"name": "PTCH1",
"pos": [
0,
10
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
87,
8
]
}
|
These findings suggest that the CTGF protein level is increased in papillary thyroid carcinoma cells compared with benign thyroid tumours.
|
NA
|
{
"id": 1490,
"name": "CCN2",
"pos": [
32,
4
]
}
|
{
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
67,
27
]
}
|
MicroRNA-101 attenuates pulmonary fibrosis by inhibiting fibroblast proliferation and activation.
|
therapeutic
|
{
"id": 406893,
"name": "MIR101-1",
"pos": [
0,
14
]
}
|
{
"id": "C0034069",
"name": "Pulmonary Fibrosis",
"pos": [
24,
18
]
}
|
Modulating the function of NP-1 to target PARP could help to prevent cellular damage in cerebrovascular disease.
|
NA
|
{
"id": 142,
"name": "PARP1",
"pos": [
42,
4
]
}
|
{
"id": "C0007820",
"name": "Cerebrovascular Disorders",
"pos": [
88,
23
]
}
|
ADAMTS13 may play a role in arterial thrombosis by cleaving the highly active and thrombogenic ultralarge Von Willebrand Factor (VWF) multimers into less active VWF multimers.
|
NA
|
{
"id": 7450,
"name": "VWF",
"pos": [
161,
3
]
}
|
{
"id": "C0151942",
"name": "Arterial thrombosis",
"pos": [
28,
19
]
}
|
These results suggest that the multiple abnormalities seen in oral X-ray examination may predict the occult existence of familial adenomatosis coli and these widespread radiopaque lesions probably represent the most extensive manifestation of FAC.
|
NA
|
{
"id": 2176,
"name": "FANCC",
"pos": [
243,
3
]
}
|
{
"id": "C0334294",
"name": "Multiple adenomatous polyps",
"pos": [
130,
12
]
}
|
The expression of EAAT3/EAAC1 mRNA was measured by reverse Northern blotting in single dissociated hippocampal dentate granule cells from rats with pilocarpine-induced temporal lobe epilepsy (TLE) and age-matched controls, in dentate granule cells from hippocampal surgical specimens from patients with TLE, and in dysplastic neurons microdissected from human focal cortical dysplasia specimens.
|
NA
|
{
"id": 6505,
"name": "SLC1A1",
"pos": [
24,
5
]
}
|
{
"id": "C2938983",
"name": "Focal cortical dysplasia",
"pos": [
360,
24
]
}
|
The antibody titer to P. gingivalis GroEL, a homologue of HSP60, is significantly higher in periodontitis patients than in healthy control subjects, suggesting that P. gingivalis GroEL is a potential stimulator of periodontal disease.
|
biomarker
|
{
"id": 51182,
"name": "HSPA14",
"pos": [
58,
5
]
}
|
{
"id": "C0031099",
"name": "Periodontitis",
"pos": [
92,
13
]
}
|
We examined birthweight and hypoglycaemia in 108 patients from families with diabetes due to HNF4A mutations, and 134 patients from families with HNF1A mutations.
|
NA
|
{
"id": 3172,
"name": "HNF4A",
"pos": [
93,
5
]
}
|
{
"id": "C0005612",
"name": "Birth Weight",
"pos": [
12,
11
]
}
|
Mouse xenograft models of OSCC were established to examine the influence of miR-140-5p on OSCC tumorigenesis in vivo during 35 days after OSCC cell injection.
|
biomarker
|
{
"id": 406932,
"name": "MIR140",
"pos": [
76,
7
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
95,
13
]
}
|
This study was designed to characterize the outcome of a group of patients with mild cognitive impairment and to determine whether the presence of the epsilon 4 allele on the apolipoprotein E gene (APOE) is a predictor of that outcome.
|
genomic_alterations
|
{
"id": 348,
"name": "APOE",
"pos": [
175,
16
]
}
|
{
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
80,
25
]
}
|
Furthermore, as protein interaction partner of ATF4, disrupted in schizophrenia 1 (DISC1) and its signal pathway implicated in the pathophysiology of schizophrenia have been widely supported by a number of genetic and neurobiological studies.
|
NA
|
{
"id": 27185,
"name": "DISC1",
"pos": [
83,
5
]
}
|
{
"id": "C0220702",
"name": "SCHIZOPHRENIA 1 (disorder)",
"pos": [
66,
15
]
}
|
CYP2C9 and VKORC1 genetic variants as well as non-genetic factors such as age, body weight and body height account for 15.4% of variance in warfarin dose among our study population.
|
NA
|
{
"id": 79001,
"name": "VKORC1",
"pos": [
11,
6
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
79,
11
]
}
|
In addition, patients with pCR had longer OS and DFS time than those without pCR.COX regression analysis showed that TUBB3 prior treatment and pCR were independent prognostic factors in ESCC patients undergoing sequential surgery after preoperative chemotherapy.
|
biomarker
|
{
"id": 9377,
"name": "COX5A",
"pos": [
81,
3
]
}
|
{
"id": "C0279626",
"name": "Squamous cell carcinoma of esophagus",
"pos": [
186,
4
]
}
|
Examination of different types of breast cancer demonstrates that the level of GIPC1 expression depends on tumor invasiveness and displays a higher expression than in benign tumors.
|
NA
|
{
"id": 10755,
"name": "GIPC1",
"pos": [
79,
5
]
}
|
{
"id": "C0086692",
"name": "Benign Neoplasm",
"pos": [
167,
13
]
}
|
The angiogenic response in aged rats was further diminished by the persistent upregulation of "inflammatory" genes (Cxcl12, Mmp8, Mmp12, Mmp14, Mpeg1, Tnfrsf1a, Tnfrsf1b) and vigorous expression of genes required for the buildup of the fibrotic scar (Cthrc1, Il6ra, Il13ar1, Il18, Mmp2, Rassf4, Tgfb1, Tgfbr2, Timp1).
|
NA
|
{
"id": 4323,
"name": "MMP14",
"pos": [
137,
5
]
}
|
{
"id": "C2004491",
"name": "Cicatrix",
"pos": [
245,
4
]
}
|
By contrast, cells expressing netrin-1, slit-1 and slit-3, unc5h-1, 2 and 3, and robo-1, 2 and 3 (rig-1) could be detected at the cerebellar lesion site as soon as 8 days after injury.
|
NA
|
{
"id": 23586,
"name": "DDX58",
"pos": [
98,
5
]
}
|
{
"id": "C0742035",
"name": "Cerebellar lesion NOS",
"pos": [
130,
17
]
}
|
[Case of west syndrome associated with transient marked sinus dysfunction during ACTH therapy].
|
therapeutic
|
{
"id": 5443,
"name": "POMC",
"pos": [
81,
4
]
}
|
{
"id": "C0553558",
"name": "Jackknife Seizures",
"pos": [
56,
5
]
}
|
Individuals with the LL genotype of 5-HTTLPR who were exposed to high family adversity displayed significantly higher rates of depressive or anxiety disorders and had more depressive symptoms than those without either condition.
|
genomic_alterations
|
{
"id": 6532,
"name": "SLC6A4",
"pos": [
36,
8
]
}
|
{
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
172,
19
]
}
|
The results of FISH analysis in interphase nuclei using a translocation probe for CML and APL showed more than 85% positive cells in CML, and 75% positive cells in APL.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
15,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
58,
13
]
}
|
This study was undertaken to investigate the expression pattern of apoptotic elements in pregnancy complications that may cause increased expression of the gene for matrix metalloproteinase 2.
|
NA
|
{
"id": 4313,
"name": "MMP2",
"pos": [
165,
26
]
}
|
{
"id": "C0032962",
"name": "Pregnancy Complications",
"pos": [
89,
23
]
}
|
B-cell lymphomas with concurrent IGH/BCL2 and MYC gene rearrangements, termed dual-translocation or double-hit lymphomas (DTLs), rarely are identified.
|
NA
|
{
"id": 3492,
"name": "IGH",
"pos": [
33,
3
]
}
|
{
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
107,
3
]
}
|
ELA2 mutations are also the most common cause of congenital neutropenia, where their presence may equate with a more severe clinical course and higher frequency of leukemic progression.
|
genomic_alterations
|
{
"id": 1991,
"name": "ELANE",
"pos": [
0,
4
]
}
|
{
"id": "C1853118",
"name": "Severe congenital neutropenia",
"pos": [
49,
22
]
}
|
Hyperekplexia (MIM #149400) is a rare neurological disorder characterized by an exaggerated startle response, infantile hypertonia and hyperreflexia without spasticity, a hesitant gait that usually improves by 3 years of age, and nocturnal myoclonus.
|
NA
|
{
"id": 9788,
"name": "MTSS1",
"pos": [
15,
3
]
}
|
{
"id": "C0026838",
"name": "Muscle Spasticity",
"pos": [
157,
10
]
}
|
Upon stimulation with Salmonella in vitro, mononuclear cells from salmonellosis patients produced significantly higher amounts of IFN-gamma and IL-12 compared with those from healthy controls.
|
NA
|
{
"id": 3439,
"name": "IFNA1",
"pos": [
130,
3
]
}
|
{
"id": "C0036117",
"name": "Salmonella infections",
"pos": [
66,
13
]
}
|
BPD is associated with a shift from traditional angiogenic growth factors (vascular endothelial growth factor, angiopoietin-1) to alternative regulators such as endoglin, which may contribute to BPD-associated microvascular dysangiogenesis.
|
biomarker
|
{
"id": 284,
"name": "ANGPT1",
"pos": [
111,
14
]
}
|
{
"id": "C0006012",
"name": "Borderline Personality Disorder",
"pos": [
0,
3
]
}
|
The majority of unrelated donor (UD) hematopoietic stem cell (HSC) transplants are performed across HLA-DP mismatches, which, if involving disparity in a host-versus-graft (HVG) direction for an alloreactive T cell epitope (TCE), have been shown by our group to be associated with poor clinical outcome in 2 cohorts of patients transplanted for hematopoietic malignancies and beta-thalassemia, respectively.
|
biomarker
|
{
"id": 3115,
"name": "HLA-DPB1",
"pos": [
100,
6
]
}
|
{
"id": "C0005283",
"name": "beta Thalassemia",
"pos": [
376,
16
]
}
|
Low concentrations of insulin-like growth factor (IGF) binding protein-1 (IGFBP1) are associated with insulin resistance, diabetes, and cardiovascular disease.
|
NA
|
{
"id": 3484,
"name": "IGFBP1",
"pos": [
74,
6
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
102,
18
]
}
|
Particularly, CYP4B1-PS1-001 was significantly downregulated in response to early diabetic nephropathy in vitro and in vivo, while overexpression of CYP4B1-PS1-001 inhibited proliferation and fibrosis of mesangial cells.
|
NA
|
{
"id": 5663,
"name": "PSEN1",
"pos": [
156,
3
]
}
|
{
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
82,
20
]
}
|
DGCR5 promotes cancer stem cell-like properties of radioresistant laryngeal carcinoma cells by sponging miR-506 via Wnt pathway.
|
biomarker
|
{
"id": 26220,
"name": "DGCR5",
"pos": [
0,
5
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
15,
6
]
}
|
However, proteasome or Hsp90 inhibition rapidly triggered their translocation into the aggresome, and surprisingly, this response was independent on the expression level of synphilin 1.
|
NA
|
{
"id": 3320,
"name": "HSP90AA1",
"pos": [
23,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
64,
13
]
}
|
AP-FGID: Abdominal Pain Related Functional Gastrointestinal Disorders; BART: Biofeedback-Assisted Relaxation Training; CIN: Chronic Idiopathic Nausea; COS: Core Outcomes Sets; EPS: Epigastric Pain Syndrome; ESPGHAN: European Society for Pediatric Gastroenterology Hepatology and Nutrition; FAP: Functional Abdominal Pain; FD: Functional Dyspepsia; GERD: Gastroesophageal Reflux Disease; GES: Gastric Electrical Stimulation; H<sub>2</sub>RAs: H2 Receptor Antagonists; IBS: irritable bowel syndrome; NASPGHAN: North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition; PDS: Postprandial Distress Syndrome; PPIs: Proton Pump Inhibitor; PROMs: Patient Reported Outcome Measures; RCTs: Randomized Controlled Trials; SSRIs: selective serotonin reuptake inhibitors; TCAs: tricyclic antidepressants.
|
biomarker
|
{
"id": 23568,
"name": "ARL2BP",
"pos": [
71,
4
]
}
|
{
"id": "C0027497",
"name": "Nausea",
"pos": [
143,
6
]
}
|
Our findings imply that the clonal landscape of large granular lymphocytic leukemia is more complex than considered before, and a substantial number of patients have multiple lymphocyte subclones harboring different STAT3 mutations, thus mimicking the situation in acute leukemia.
|
genomic_alterations
|
{
"id": 6774,
"name": "STAT3",
"pos": [
216,
5
]
}
|
{
"id": "C1522378",
"name": "Leukemia, Large Granular Lymphocytic",
"pos": [
48,
35
]
}
|
Taken together, these findings support the notion that Bif-1 is an important component of the mitochondrial pathway for apoptosis as a novel Bax/Bak activator, and loss of this proapoptotic molecule may contribute to tumorigenesis.
|
biomarker
|
{
"id": 9841,
"name": "ZBTB24",
"pos": [
55,
5
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
217,
13
]
}
|
Correction: ASPM promotes prostate cancer stemness and progression by augmenting Wnt-Dvl-3-β-catenin signaling.
|
biomarker
|
{
"id": 259266,
"name": "ASPM",
"pos": [
12,
4
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
26,
15
]
}
|
p53 gene changes were not correlated with histological structure, grade of differentiation or residual tumor after cytoreductive surgery, despite being detected more frequently in III/IV than in II FIGO stages and in patients with residual disease above 2 cm.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
0,
8
]
}
|
{
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
231,
16
]
}
|
Eleven neonates were positive for HBV infection, and two of them showed point mutations that might have rendered the virus resistant to the vaccine, possibly due to a change in the S protein's secondary structure.
|
genomic_alterations
|
{
"id": 7448,
"name": "VTN",
"pos": [
181,
9
]
}
|
{
"id": "C0019163",
"name": "Hepatitis B",
"pos": [
34,
3
]
}
|
To investigate the prevalence of phosphatidylinositol 3-kinase (PIK3CA) gene amplification in lung cancer, and to explore its prognostic value.
|
genomic_alterations
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
64,
6
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
94,
11
]
}
|
From a total of 109 microsatellite instability (MSI)-positive HNPCC-suspected patients, 11 showed a lack of MLH1 expression in tumor tissue and no germline mutations in the mismatch repair (MMR) genes.
|
NA
|
{
"id": 4292,
"name": "MLH1",
"pos": [
108,
4
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
20,
26
]
}
|
PD-L1 expression in EGFR mutated NSCLCs were lower than those in EGFR wild type NSCLCs, while tumors with KRAS mutation showed higher levels of PD-L1.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
65,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
94,
6
]
}
|
We found that frameshift mutations of MLL3 in both CRC cells and primary tumor that were more common in cases with microsatellite instability.
|
NA
|
{
"id": 58508,
"name": "KMT2C",
"pos": [
38,
4
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
115,
26
]
}
|
Moreover, these results support the presence of a gatekeeper mechanism in multistep skin tumorigenesis exerted by the altered PTCH signaling pathway.
|
NA
|
{
"id": 5727,
"name": "PTCH1",
"pos": [
126,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
89,
13
]
}
|
In this study, we examined the LAMB3 gene for mutations in 22 Herlitz junctional epidermolysis bullosa families, and identified 15 distinct mutations, eight of them previously unreported, bringing the total number of distinct Herlitz junctional epidermolysis bullosa mutations in LAMB3 to 35.
|
genomic_alterations
|
{
"id": 3914,
"name": "LAMB3",
"pos": [
280,
5
]
}
|
{
"id": "C0079301",
"name": "Junctional Epidermolysis Bullosa",
"pos": [
234,
32
]
}
|
MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia.
|
NA
|
{
"id": 58508,
"name": "KMT2C",
"pos": [
0,
4
]
}
|
{
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
109,
17
]
}
|
Integrative Analysis Identifies a Novel AXL-PI3 Kinase-PD-L1 Signaling Axis Associated with Radiation Resistance in Head and Neck Cancer.
|
biomarker
|
{
"id": 558,
"name": "AXL",
"pos": [
40,
3
]
}
|
{
"id": "C0278996",
"name": "Malignant Head and Neck Neoplasm",
"pos": [
116,
20
]
}
|
In a first application comprising 100 cutaneous warts, the assay was compared to another, recently described genotyping assay, the HSL-PCR/MPG.
|
NA
|
{
"id": 3991,
"name": "LIPE",
"pos": [
131,
3
]
}
|
{
"id": "C3665596",
"name": "Warts",
"pos": [
48,
5
]
}
|
The genes selected for our investigation are involved in key cellular processes of malignant transformation, including cell cycle control (p16), apoptosis (Death Associated Protein Kinase, DAPK), Wnt signaling (Adenomatous Polyposis Coli, APC), cell-cell adhesion (E-cadherin, E-cad), and DNA repair (O(6)-methylguanine-DNA methyltransferase, MGMT, Werner syndrome gene, WRN).
|
NA
|
{
"id": 1611,
"name": "DAP",
"pos": [
156,
24
]
}
|
{
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
279,
3
]
}
|
These findings suggest that TPX2 plays an important role in promoting tumorigenesis and metastasis of human colon cancer, and may represent a novel prognostic biomarker and therapeutic target for the disease.
|
NA
|
{
"id": 22974,
"name": "TPX2",
"pos": [
28,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
70,
13
]
}
|
Mutant IDH inhibits HNF-4α to block hepatocyte differentiation and promote biliary cancer.
|
biomarker
|
{
"id": 3172,
"name": "HNF4A",
"pos": [
20,
6
]
}
|
{
"id": "C0750952",
"name": "Biliary Tract Cancer",
"pos": [
75,
14
]
}
|
Autoimmune thyroiditis, with TPO-Abs as marker, is a possible endophenotype for bipolar disorder.
|
NA
|
{
"id": 7066,
"name": "THPO",
"pos": [
29,
3
]
}
|
{
"id": "C0005586",
"name": "Bipolar Disorder",
"pos": [
80,
16
]
}
|
Here, we report evidence of an association between mild malaria and NCR3 -412G>C polymorphism located within the promoter.
|
NA
|
{
"id": 259197,
"name": "NCR3",
"pos": [
68,
4
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
51,
4
]
}
|
The definition of the disease was greatly influenced by the discovery of the translocation t(11;14)(q13,q32), which juxtaposes the cyclin D1 and the immunoglobulin heavy chain genes and is present in the vast majority of MCL cases.
|
NA
|
{
"id": 3492,
"name": "IGH",
"pos": [
149,
32
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
77,
13
]
}
|
Lower risk of dementia was particularly noticeable in all of the combination therapy groups and especially lower in the combination therapy group treated with dipeptidyl peptidase 4 inhibitor (aHR 0.48, 95% CI 0.45-0.51).
|
genomic_alterations
|
{
"id": 1803,
"name": "DPP4",
"pos": [
159,
22
]
}
|
{
"id": "C0011265",
"name": "Presenile dementia",
"pos": [
14,
8
]
}
|
In summary, the DYT6 gene is in a 23 cM region on chromosome 8q21-22 and does not account for all familial PTD in Amish-Mennonites.
|
genomic_alterations
|
{
"id": 55145,
"name": "THAP1",
"pos": [
16,
4
]
}
|
{
"id": "C0266006",
"name": "Pili torti-deafness syndrome",
"pos": [
107,
3
]
}
|
Moreover, rats that received 200 μg/d had insulin resistance and enlarged adipocytes in inguinal and mesenteric fat depots, increased circulating levels of LH, decreased levels of FSH, and increased ovarian expression of Cyp17a1 mRNA.
|
NA
|
{
"id": 1586,
"name": "CYP17A1",
"pos": [
221,
7
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
42,
18
]
}
|
Finally, the concept of the "leukemia stem cell" and its therapeutic importance is discussed in light of the RUNX1 gatekeeper function.
|
biomarker
|
{
"id": 861,
"name": "RUNX1",
"pos": [
109,
5
]
}
|
{
"id": "C0280141",
"name": "Acute Undifferentiated Leukemia",
"pos": [
29,
18
]
}
|
Interphase nuclei containing a translocation that disrupts either SSX1, SSX2, or SSX4 locus will display two single-color signals that have "broken apart" from each other.
|
NA
|
{
"id": 6759,
"name": "SSX4",
"pos": [
81,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
31,
13
]
}
|
Karyotype analysis revealed that the fetus was carrier of a balanced, de novo, chromosomal translocation t(2;7)(q35;p22).
|
NA
|
{
"id": 11261,
"name": "CHP1",
"pos": [
116,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
79,
25
]
}
|
Upregulation of Pkp2 and its integration into AJs has also been noted in some soft tissue tumors insitu and some highly proliferative colonies of cultured mesenchymal stem cells.
|
NA
|
{
"id": 5318,
"name": "PKP2",
"pos": [
16,
4
]
}
|
{
"id": "C0037579",
"name": "Soft Tissue Neoplasms",
"pos": [
78,
18
]
}
|
To study the relationship of GYPC and TRIP3 gene expression and the prognosis of acute lymphoblastic leukemia (ALL) in children in order to explore the molecular biological mechanisms of recurrence and remission of ALL.
|
NA
|
{
"id": 2995,
"name": "GYPC",
"pos": [
29,
4
]
}
|
{
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
81,
28
]
}
|
We performed immunohistochemical studies of MVD and VEGF-expression in 100 MPN, including 24 essential thrombocythemia- (ET), 46 polycythemia vera- (PV), 26 primary myelofibrosis- (PMF), four myelodysplastic (MDS)/MPN- and 20 control reactive bone marrow cases, and correlated these findings with biological and clinical key data and the JAK2-V617F status.
|
genomic_alterations
|
{
"id": 7422,
"name": "VEGFA",
"pos": [
52,
4
]
}
|
{
"id": "C0032463",
"name": "Polycythemia Vera",
"pos": [
129,
17
]
}
|
We have screened 31 families fulfilling the Amsterdam criteria and 54 families with a colorectal cancer clustering but not fulfilling the Amsterdam criteria for mutations in MLH1 and MSH2 by direct sequencing, and detected a mutation in 61% of the Amsterdam positive families but only in 15% of the Amsterdam negative families.
|
genomic_alterations
|
{
"id": 4292,
"name": "MLH1",
"pos": [
174,
4
]
}
|
{
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
86,
17
]
}
|
Leucine-rich repeats containing 4 (LRRC4), a putative glioma suppressive gene, inhibits glioblastoma cells tumorigenesis in vivo and cell proliferation and invasion in vitro.
|
NA
|
{
"id": 64101,
"name": "LRRC4",
"pos": [
35,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
107,
13
]
}
|
Myocyte-enriched calcineurin-interacting protein, MCIP1, inhibits cardiac hypertrophy in vivo.
|
NA
|
{
"id": 1827,
"name": "RCAN1",
"pos": [
50,
5
]
}
|
{
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
66,
19
]
}
|
Therefore, we investigated the possible influence of the polymorphism of the IL-1 receptor antagonist (IL-1 RA) genes on the development of ovarian cancer.
|
genomic_alterations
|
{
"id": 3553,
"name": "IL1B",
"pos": [
77,
4
]
}
|
{
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
140,
14
]
}
|
In addition, renal fibrosis was evaluated quantitatively and endoglin, TGF-beta1, collagen type I and collagen type IV expression was assessed by Northern blot and immunohistochemistry.
|
therapeutic
|
{
"id": 2022,
"name": "ENG",
"pos": [
61,
8
]
}
|
{
"id": "C0151650",
"name": "Renal fibrosis",
"pos": [
13,
14
]
}
|
Four hundred and twenty-five Japanese patients with POAG, including normal-tension glaucoma (NTG, n = 213) and high-tension glaucoma (HTG, n = 212), and 191 control subjects without glaucoma were analyzed for polymorphisms of rs1256031 and rs4986938 in the ESR2 gene.
|
NA
|
{
"id": 2100,
"name": "ESR2",
"pos": [
257,
9
]
}
|
{
"id": "C0017601",
"name": "Glaucoma",
"pos": [
182,
8
]
}
|
mRNA levels of Ngfr, Vglut1, Mapk3, Tnf-α, and Sirt1, known targets of the down-regulated miRNAs and abnormal in various human brain disorders, were significantly increased in the HMOX-1-transfected astrocytes.
|
NA
|
{
"id": 5595,
"name": "MAPK3",
"pos": [
29,
5
]
}
|
{
"id": "C0006111",
"name": "Brain Diseases",
"pos": [
127,
15
]
}
|
Fatty acids induce a missorting of SNAP-23, from the plasma membrane to the interior of the cell, resulting in cellular insulin resistance that can be overcome by increasing the levels of SNAP-23.
|
NA
|
{
"id": 6616,
"name": "SNAP25",
"pos": [
188,
4
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
120,
18
]
}
|
SFRP1, SFRP2, and SFRP4 are adipokines, the expression of which correlates with insulin sensitivity.
|
NA
|
{
"id": 6422,
"name": "SFRP1",
"pos": [
0,
5
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
80,
19
]
}
|
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