EGAS00001000105-sc-20110919 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000039 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density
| EGAD00001000109 | EGA
Project description:As part of the Bloodomics collaboration we have several categories of pedigrees with diseases/syndromes relevant to cardiovascular diseases (CVD). One such pedigree, is from families who have a platelet collagen defect. Exome sequencing has been performed as part of a discovery program to ascertain potential causative variants of the clinical phenotype.
| EGAS00001000105 | EGA
Project description:Collagen is a potent agonist for platelet activation, presenting itself as a key contributor to coagulation via interactions with platelet glycoproteins. The fine-details dictating platelet-collagen interactions are poorly understood. In particular, glycosylation could be a key determinant in the platelet-collagen interaction. Here we report an affinity purification coupled to mass spectrometry-based approach to elucidate the function of N-glycans in dictating platelet-collagen interactions. By integrative proteomic and glycoproteomic analysis of collagen-platelet interactive proteins with N-glycan manipulation, we demonstrate that the interaction of platelet adhesive receptors with collagen are highly N-glycan regulated, with glycans on many receptors playing positive roles on collagen binding, with glycans on other platelet glycoproteins exhibiting inhibitory roles on the binding to collagen. Our results significantly enhance our understanding of the details of glycans influencing the platelet-collagen interaction.
2019-06-14 | PXD010290 | Pride
Project description:CTCF ChIP-seq of 39 primary samples derived from human acute leukemias, namely AML, T-ALL and mixed myeloid/lymphoid leukemias with CpG Island Methylator Phenotype (CIMP). Due to patient confidentiality considerations, the raw data files for this dataset have been deposited to the EGA controlled-access archive under the accession numbers EGAS00001007094 (study); EGAD00001011059 (dataset).
2023-08-31 | E-MTAB-13117 | biostudies-arrayexpress
Project description:H3K27ac ChIP-seq of 79 primary samples derived from human acute leukemias, namely AML, T-ALL and mixed myeloid/lymphoid leukemias with CpG Island Methylator Phenotype (CIMP). In addition, 4 samples derived from CD34+ cord blood cells of healthy donors were included. Due to patient confidentiality considerations, the raw data files for this dataset have been deposited to the EGA controlled-access archive under the accession numbers EGAS00001007094 (study); EGAD00001011060 (dataset).
2023-08-31 | E-MTAB-13119 | biostudies-arrayexpress
Project description:Platelets contain non-coding RNAs (ncRNAs), and their measurement may complement aggregometry. In the community-based Bruneck Study (N = 338), we conducted over 2,700 aggregometry measurements and over 65,000 RT-qPCR measurements in platelet releasates, platelet-poor plasma and isolated platelets. We show agonist-specific, dose-dependent platelet ncRNA release that is inhibited by aspirin. Collagen induces the strongest release for most ncRNAs, while miR-150 is hyperresponsive to ADP and miR-21 is hyperresponsive to arachidonic acid. Inflammation and high leukocyte-derived RNA content in platelets correlate inversely with platelet aggregation and platelet ncRNA release after stimulation. This inverse correlation is not observed in aspirin users. Finally, we reveal that platelet-derived microRNAs and YRNAs are carried by proteins and readily released, while circular RNAs, long non-coding RNAs and messenger RNAs are carried by vesicles and preferentially retained. Our findings provide evidence that inflammation leads to platelet pre-activation in vivo resulting in platelet exhaustion ex vivo.
2023-08-09 | GSE240195 | GEO
Project description:Embryonic genome activation (EGA), a pivotal transcriptional event during preimplantation development, is accompanied by post-transcriptional regulation of maternal mRNAs. Disentangling the transcriptional output of the newly activated embryonic genome from concomitant post-transcriptional processing is important for decoding EGA dynamics.Here, using optimized low-input SLAM-seq (thiol(SH)-linked alkylation for the metabolic sequencing) in mouse embryos, we delineates the temporal hierarchy of EGA nascent transcription during mouse preimplantation embryogenesis and uncovers a mechanistic link between EGA and the first lineage specification, providing new insights into the regulatory architecture of early mammalian development.
2026-01-01 | GSE297541 | GEO
Project description:We report RNA-sequencing data of 12 platelet samples isolated from four healthy individuals and incubated with either E. coli K12, E. coli O18 or no bacteria. This dataset highlights the differential effect of bacteria on spliced platelet RNA profiles.
2018-11-02 | GSE114710 | GEO
Project description:The Montreal Platelet Syndrome Kindred (MPS) with p.V1316M mutation (2B-VWDMPS) has been associated with chronic macrothrombocytopenia, spontaneous platelet clumping, and mucocutaneous and other bleeding which can be largely prevented by von Willebrand factor concentrate infusion. However, supplemental platelet transfusion has been required on occasions, particularly for severe gastro-intestinal bleeds. This raises the question of whether a previously uncharacterized platelet dysfunction contributes to bleeding diathesis in 2B-VWDMPS patients. We studied the 2 members of the MPS kindred with the most severe bleeding phenotype and addressed this question by coupling quantitative platelet shotgun proteomics and validating biochemical assays, with the systematic analysis of platelet procoagulant membrane dynamics (PMD). Previously, we showed that membrane ballooning, a major procoagulant response of the human platelet after exposure to collagen, is driven by the influx of Na+ and Cl-, followed by the entry of osmotically obliged water. Here, we report in 2B-VWDMPS platelets, loss of the transmembrane chloride channel CLIC1, and reduced chloride ion influx after collagen stimulation. This was associated with diminished membrane ballooning and a distinct phenotypic composition of platelets over fibrillar collagen. Also, 2B-VWDMPS platelets showed marked loss of regulatory, cytoskeletal, and contractile proteins that may account for structure disorganization, giant platelet formation and further reduce the haemostatic response.
2023-08-22 | PXD035713 | Pride
Project description:In the past decades, the incidence of esophageal adenocarcinoma has increased dramatically in Western populations. Better understanding of disease etiology along with the identification of novel prognostic and predictive biomarkers are urgently needed to improve the dismal survival probabilities. Here, we performed comprehensive RNA (both coding and non-coding) profiling in various samples from 17 patients diagnosed with esophageal adenocarcinoma, high-grade dysplastic or non-dysplastic Barrett’s esophagus. Per patient, a blood plasma sample, and a healthy esophageal and disease tissue sample were included. In total, this comprehensive dataset consists of 102 RNA-seq libraries from 51 samples. The raw data for this study have been deposited to the controlled access archive EGA under submission EGAS00001004939.
2022-01-01 | E-MTAB-10004 | biostudies-arrayexpress