Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Mosaic FCD

ABSTRACT: Sequencing of the mTOR/GATOR pathway panel to search for mosaic mutations in brain tissue removed from surgery for the treatment of epilepsy, and in peripheral blood from patients with FCD.

INSTRUMENT(S): -

ORGANISM(S): Homo Sapiens

SUBMITTER: UNICAMP

PROVIDER: PRJEB48128 | EVA | 2021-10-17

REPOSITORIES: EVA

ACCESS DATA

Json Xml

Similar Datasets

Direct in vivo evidence for B-cell receptor and NF-KB activation in mantle cell lymphoma: role of the lymph node microenvironment and activating mutations. [Affymetrix]

Project description:We provide direct in vivo evidence for activation of the BCR and canonical NF-KB pathways in MCL that, in the absence of activating mutations, is dependent on the lymph node microenvironment. This finding provides a mechanistic explanation for the surprising efficacy of ibrutinib for the treatment of this type of lymphoma. Mutations in components of the BCR and NF-KB pathways are associated with cell-autonomous signaling and resistance to ibrutinib. Lymph node biopsies and peripheral blood samples were obtained from 55 patients with previously untreated MCL. The samples are distributed into 3 groups: peripheral blood (purified CD19, N=17), unpurified lymph node biopsy (mixed tissue biopsy, N=34), and purified lymph node (purified CD19 Tumor, N=4).

2016-07-15 | E-GEOD-70910 | biostudies-arrayexpress

Exomes of human leukemic JMML (Juvenile MyeloMonocytic Leukemia) xenografts in NSG or NSG-S mice (samples enriched in hCD45)

Project description:The study includes 14 patients with confirmed JMML and known somatic mutations (from exome data of paired tumoral and germline DNA). Bone marrow or peripheral blood mononucleated cells were injected in immundeficient mice to recapitulate the leukemia. Whole exome sequencing was performed in xenograft samples to control the persistance of patients' known mutations and look for new mutations acquired in xenograft sample.

2018-03-15 | E-MTAB-6467 | biostudies-arrayexpress

mRNA expression profile of peripheral blood samples from ovarian cancer patients before and after bevacizumab treatment

Project description:we performed transcriptome sequencing and microarray analysis of peripheral blood samples from two ovarian cancer patients (A and B) before and after two times bevacizumab treatment to analyze the expression of mRNA and explore pathway enrichment and their correlation with drug-resistance and tumor microenvironment changes.

2023-12-31 | GSE165700 | GEO

Dynamic molecular signatures of acute myocardial infarction based on transcriptomics

Project description:Peripheral blood mononuclear cells were collected from the patients. RNA-seq and analysis was performed on the collected samples. Total RNA was extracted from the tissue using TRIzol® Reagent according the manufacturer’s instructions(Invitrogen) and genomic DNA was removed using DNase I (TaKara). Then RNA quality was determined using 2100 Bioanalyser (Agilent) and quantified using the ND-2000 (NanoDrop Technologies). High-quality RNA sample (OD260/280=1.8~2.2, OD260/230≥2.0, RIN≥6.5, 28S:18S≥1.0, >10μg) is used to construct sequencing library

2024-05-09 | GSE249812 | GEO

Gene expression analysis of peripheral whole blood RNA following ischemic stroke

Project description:The purpose of this project was to elucidate gene expression in the peripheral whole blood of acute ischemic stroke patients to identify a panel of genes for the diagnosis of acute ischemic stroke. Peripheral blood samples were collected in Paxgene Blood RNA tubes from stroke patients who were >18 years of age with MRI diagnosed ischemic stroke and controls who were non-stroke neurologically healthy. The results suggest a panel of genes can be used to diagnose ischemic stroke, and provide information about the biological pathways involved in the response to acute ischemic stroke in humans. Total RNA extracted from whole blood in n=39 ischemic stroke patients compared to n=24 healthy control subjects.

2010-06-08 | E-GEOD-16561 | biostudies-arrayexpress

Gene expression analysis of peripheral whole blood RNA following ischemic stroke

2010-06-01 | GSE16561 | GEO

Whole transcriptome sequencing of peripheral blood from opioid use disorder [RNA-seq]

Project description:7 male OUD patients and 7 male health controls with demographic and clinical data matched were enrolled in this study. rRNA removed library and small RNA library were constructed using peripheral blood RNA. RNA-seq was used to investigate the peripheral transcriptomic changes between the two groups.

2022-05-31 | GSE198121 | GEO

Whole transcriptome sequencing of peripheral blood from opioid use disorder [miRNA-seq]

2022-05-31 | GSE198122 | GEO

Evaluation of a novel clinical platform for cardiovascular drug development

Project description:Objectives M-bM-^@M-^STo determine whether inflammation biomarkers can be used as indicators of therapeutic response, an exploratory study was performed to ascertain whether short term improvements in risk parameters will have measureable effects on a pre-defined panel of plaque inflammation biomarkers. Methods and Results M-bM-^@M-^S Patients (n=121) with peripheral arterial disease were enrolled into one of three sub-studies based upon the presence of hypercholesterolemia, hypertension, or diabetes. Patients were randomized to 6 weeks of drug treatment vs. placebo and underwent catheter excision of atherosclerotic tissue from one extremity at baseline and the contralateral extremity after treatment. Simvastatin 40mg once daily reduced LDL-C by 43% (p<0.01), losartan 50mg once daily reduced diastolic blood pressure by 4 mm Hg (p=0.099), and pioglitazone 30mg once daily reduced serum glucose by 66mg/dL (p=0.008). Despite these effects, there were no consistent treatment effects on a large panel of plaque protein, RNA and lipid biomarkers. Conclusions M-bM-^@M-^S Short term treatment with drugs that improve cardiovascular risk parameters did not result in a measureable reduction in the levels of peripheral arterial plaque inflammation biomarkers. Further studies are required to identify biomarkers that are sufficiently predictive to be used to identify drug candidates for testing in large cardiovascular outcome studies. (ClinicalTrials.gov: NCT00720577) Human peripheral atherosclerosis plaque was extracted from lower extremities, and RNA, lipids and proteins extracted. RNA was analyzed in an Agilent two-color platform.

2012-05-15 | E-GEOD-37824 | biostudies-arrayexpress

Identification of Six Potential Markers for the Detection of Circulating Canine Mammary Tumor Cells in the Peripheral Blood

Project description:Circulating tumor cells in the peripheral have proven to be independent prognostic factors for overall survival the monitoring of therapeutic success of human breast cancer patients. Postmortem morphologic evidence also points towards the presence of circulating tumor cells in the peripheral blood of dogs with metastatic canine mammary tumors. However, the existence of these cells has not been verified in canines in vivo and they have not been isolated and characterized due to the lack of appropriate and canine specific detection methods. In the present study a panel of 73 genes with high expression levels in canine mammary carcinoma cells and but not in peripheral blood leukocytes were identified using microarray analysis. From this panel, six mRNA markers, AGR2, ATP8B1, CRYAB, F3 and IRX3, were expressed in canine mammary carcinoma cells but not in the peripheral blood of dogs. All six RT-PCR assays, were sensitive enough detect one carcinoma cell admixed in 106 or more peripheral blood leukocytes, a common concentration of circulating tumor cells in the peripheral blood of human breast cancer patients. These five mRNA markers may therefore be used to detect canine mammary circulating tumor cells and to study their spatio-temporal presence in the peripheral blood of canine patients.

2011-12-10 | GSE25586 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data