Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Acquisition of somatic activating mutations in the vegf-pathway in cardiac angiosarcomas

ABSTRACT: Study of genetic landscape (germinal and somatic) of cardiac angiosracomas with or without mutations in POT1 gene.

INSTRUMENT(S): Illumina Genome Analyzer II

ORGANISM(S): Homo sapiens

SUBMITTER: Oriol Calvete

PROVIDER: E-MTAB-7999 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Project description: Not available

| S-EPMC6818007 | biostudies-literature

A MUTATION IN THE POT1 GENE IS RESPONSIBLE FOR CARDIAC ANGIOSARCOMA IN TP53-NEGATIVE LI-FRAUMENI-LIKE FAMILIES

Project description:Whole Exome sequencing of two patients with Cardiac angiosarcoma in Li-Fraumeni-like families discovers that a mutation in the pot1 gene is responsible for cardiac angiosarcoma in tp53-negative li-fraumeni-like families

2015-09-14 | E-MTAB-3858 | biostudies-arrayexpress

Acquisition of somatic activating mutations in the vegf-pathway in cardiac angiosarcomas

Project description:Acquisition of somatic activating mutations in the vegf-pathway in cardiac angiosarcomas

| PRJEB32748 | ENA

RIL-seq of EPEC E2348/69 hfq-flag, in virulence activating and non-activating conditions.

Project description:RIL-seq experiment of EPEC hfq-flag mutant, in activating- conditions:growth on DMEM at 37°C to mid exponential growth phase (e.g., OD600=0.3). In these conditions EPEC strongly expresses its major virulence components, T3SS and BFP, mimicking infection. Non-activating conditions: overnight growth of static culture on LB medium at 37°C where virulence factors are not expressed. RIL-seq experiments are designed to reveal the interactions of sRNA and their targets.

2021-01-29 | E-MTAB-8806 | biostudies-arrayexpress

RNA-seq of EPEC E2348/69 in virulence activating and non-activating conditions. Comparison of wt and dhfq strains.

Project description:Compared the transcriptome of wild type EPEC with that of an isogenic Δhfq mutant. Comparing activating- conditions:growth on DMEM at 37°C to mid exponential growth phase (e.g., OD600=0.3). In these conditions EPEC strongly expresses its major virulence components, T3SS and BFP, mimicking infection. Non-activating conditions: overnight growth of static culture on LB medium at 37°C where virulence factors are not expressed.

2021-01-29 | E-MTAB-8804 | biostudies-arrayexpress

Human POT1 Prevents Severe Telomere Damage Instability Induced by Homology Directed DNA Repair

Project description:The evolutionarily conserved POT1 protein binds the single stranded G-rich telomeric DNA and has been implicated in telomeric DNA maintenance and the suppression of DNA damage checkpoint signaling. Here, we explore human POT1 function through genetics and proteomics discovering that the complete absence of POT1 leads to severe telomere maintenance defects that had not been anticipated from previous depletion studies. We determine the telomeric proteome upon POT1-loss by implementing an improved telomeric chromatin isolation protocol. Using quantitative proteomics by tandem mass tags (TMT) we identified a large set of proteins involved in nucleic acid metabolism that engage with telomeres upon loss of POT1. Inactivation of the homology directed repair machinery suppresses POT1-loss mediated telomeric DNA defects. Our results unravel as major function of human POT1 the suppression of telomere instability induced by homology directed repair.

2020-10-21 | PXD016826 | Pride

POT1 mutations identify inferior outcomes in chronic lymphocytic leukemia and disrupted telomere biology function

Project description:Telomere protection 1 (POT1) is an important subunit in the shelterin complex, considered the telomere protector. POT1 dysfunction may lead to telomere length dysregulation and genomic instability. Both germline and somatic POT1 mutations have been identified in CLL patients, suggesting the development of the disease. This study aimedto evaluate the occurrence of POT1 mutations throughout CLL's progression and determine their prognostic significance.

2025-03-14 | GSE261569 | GEO

Potent and PPARα-independent anti-proliferative action of the hypolipidemic drug fenofibrate in VEGF-dependent angiosarcomas in vitro.

Project description: Not available

| S-EPMC6474884 | biostudies-literature

PROTECTION OF TELOMERES 1b safeguards the Arabidopsis genome by regulating ROS homeostasis

Project description:Telomeres safeguard the genome, acting as sentinels of oxidative stress and preventing chromosome ends from eliciting a DNA damage response. PROTECTION OF TELOMERES 1 (POT1) is a highly conserved telomere protein, essential for chromosome integrity and telomeric DNA replication. Arabidopsis thaliana encodes two divergent POT1 paralogs: AtPOT1a stimulates telomerase activity, but AtPOT1b function is unknown. Here we show that AtPOT1b modulates reactive oxygen species (ROS) homeostasis. Oxidative stress induces AtPOT1b expression and telomeric accumulation, while AtPOT1b inactivation elevates ROS, increases telomeric and genome-wide oxidation, and causes stochastic telomere length changes. To address how AtPOT1b controls ROS, we report its localization in nuclei and peroxisomes, and association with catalases and peroxidases that enhance ROS scavenging. Impairing AtPOT1b-CAT2 interaction increases ROS accumulation and telomeric oxidation. Moss or human POT1 rescues ROS overaccumulation in Arabidopsis pot1b mutants, but not telomere deficiency in pot1a pot1b mutants, supporting a conserved role for POT1 in modulating ROS homeostasis and genome stability, distinct from canonical telomeric functions.

2026-03-04 | GSE297308 | GEO

Sevoflurane promotes the proliferation of HUVECs by activating VEGF signaling.

Project description: Not available

| S-EPMC6966126 | biostudies-literature