EGAS00001000352-sc-2019-08-21T10:33:56Z - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001005276 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:These samples include exome sequences of samples from patients who suffered Sudden Unexplained Death in Epilepsy
| EGAS00001000352 | EGA
Project description:Sudden unexplained death in childhood (SUDC) is death of a child over one year of age that is unexplained after review of clinical history, circumstances of death, and complete autopsy with ancillary testing. Multiple etiologies may cause SUDC, with parallels to sudden unexpected death in epilepsy (SUDEP) in SUDC with a history of febrile seizures, suggesting possible abnormalities in hippocampus and cortex. To identify molecular signaling pathways underlying SUDC, we performed label-free quantitative mass spectrometry on microdissected frontal cortex, hippocampal dentate gyrus (DG), and cornu ammonis (CA1-3) in SUDC (n=19) and pediatric control cases (n=19) with an explained cause of death.
2021-12-23 | MSV000088611 | MassIVE
Project description:50 lymphoblastoid cell lines of adult female Twins which are part of the MuTHER study, processed with the FAIRE assay in order to generate maps of open chromatin. .
This dataset contains all the data available for this study on 2019-08-21.
| EGAD00001005273 | EGA
Project description:50 lymphoblastoid cell lines of adult female Twins which are part of the MuTHER study, subjected to Chromatin Immunoprecipitation using an antibody for H3K4me1. H3K4me1 peaks mark distal regulatory elements. .
This dataset contains all the data available for this study on 2019-08-21.
| EGAD00001005274 | EGA
Project description:The objective is to identify new disease genes involved in calcific aortic valve stenosis (CAVS) by screening newly identified candidate genes. The recruitment of patients with CAVS has been achieved by l’institut du thorax (Nantes, France). DNA from the selected patients has been analysed by targeted capture (Agilent SureSelect) and massively parallel sequencing (Illumina). .
This dataset contains all the data available for this study on 2019-08-21.
| EGAD00001005275 | EGA
Project description:We have collected material from a patient who had BrafV600E mutant melanoma that was
treated with PLX4032. We have germline DNA from the patient and DNA and RNA from
distinct lesions before and after treatment with PLX4032. We would like to exome sequence
these samples to gain a snap shot of the mechanisms of resistance that are operative.
.
This dataset contains all the data available for this study on 2019-08-21.
| EGAD00001005278 | EGA
Project description:Brainstem nuclei dysfunction is implicated in sudden unexpected death in epilepsy (SUDEP). In animal models, deficient serotonergic activity is associated with seizure-induced respiratory arrest. In humans, glia are decreased in the ventrolateral medullary pre-Botzinger complex that modulates respiratory rhythm, as well as in the medial raphe that modulates respiration and arousal. Finally, SUDEP cases have decreased midbrain volume.
To understand the potential role of brainstem nuclei in SUDEP, we evaluated molecular signaling pathways using localized proteomics in microdissected midbrain dorsal raphe and medullary raphe serotonergic nuclei, as well as the ventrolateral medulla in brain tissue from epilepsy patients who died of SUDEP and other causes in diverse epilepsy syndromes, and non-epilepsy control cases
2021-12-14 | MSV000088563 | MassIVE
Project description:The annotated MatLab script contains a simple algorithm for creating 1D bifurcation plots for saddle-node bifurcations.
The algorithm is intended as a DIY alternative for creating bifurcation diagrams with bistable models if the model does not run in more common software suites for bifurcation analysis.
Running the code creates a 1D bifurcation plot for a simple bistable model used for illustration.
For more details, please refer to:
https://insilicovitro.wordpress.com/2019/10/08/home-baked-bifurcation-diagrams/
2019-10-24 | MODEL1910220002 | BioModels
Project description:Hepatic fibrosis is a dynamic process characterized by the net accumulation of extracellular matrix resulting from chronic liver injury such as nonalcoholic steatohepatitis. During the pathogenesis of hepatic fibrosis, activation of hepatic stellate cells (HSCs) causes transdifferentiation of quiescent cells into proliferative and fibrogenic myofibroblasts. In the present study, we developed a novel RORα-selective ligand, ODH-08, based on the modification of JC1-40, a previously reported N-methylthiourea analog. Administration of ODH-08 to Western diet (WD)-fed mice improved the signs of hepatic fibrosis: decreased hepatic collagen deposition and suppression of the expression of fibrogenic markers. ODH-08 inhibits the TGF1-induced fibrogenic activation of HSCs through suppression of the TGFβ1–SMAD signaling pathway, which represents a novel mechanism for the antifibrogenic effect of RORα. Thus, ODH-08 appears to be a promising antifibrotic agent to treat hepatic fibrosis. We performed a microarray analysis in the liver tissue of ODH-08-treated WD-fed mice to anlyse differentially expressed genes under ODH-08 administration. The control group was vehicle-treated WD-fed mice.
2024-03-01 | GSE250531 | GEO