93d3cab2-2296-41c0-824c-5188d71334c6 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001006179 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Genome-wide DNA methylation profiling of whole blood cells. The Illumina Infinium HumanMethylation450 microarray was used. Two children's cohorts were studied: 17 children with Down syndrome (DS) and 17 typically developing children (TD)
2021-08-04 | GSE174555 | GEO
Project description:Genome wide DNA methylation profiling of whole blood cells. The the Illumina Infinium MethylationEPIC microarray was used. Two children's cohorts were studied: 29 children residing in the orphanages (institutional care group, IC) and 29 children being raised in biological families (biological family care group, BFC)
2019-01-21 | GSE118940 | GEO
Project description:Cells contain numerous abundant molecular machines assembled from multiple subunits. Imbalances in subunit production and failed assembly generate orphan subunits that are eliminated by poorly defined pathways. Here, we determined how orphan subunits of the cytosolic chaperonin CCT are recognized. Several unassembled CCT subunits recruited the E3 ubiquitin ligase HERC2 using ZNRD2 as an adaptor. Both factors were necessary for orphan CCT subunit degradation in cells, sufficient for CCT subunit ubiquitination with purified factors, and necessary for optimal cell fitness. Domain mapping and structure prediction defined the molecular features of a minimal HERC2-ZNRD2-CCT module. The structural model, whose key elements were validated in cells using point mutants, shows why ZNRD2 selectively recognizes multiple orphaned CCT subunits without engaging assembled CCT. Our findings reveal how failures during CCT assembly are monitored and provide a paradigm for the molecular recognition of orphan subunits, the largest source of quality control substrates in cells.
2023-07-26 | PXD042773 | Pride
Project description:Several canine breeds, including boxers, Boston terriers, and French bulldogs, belong to the same phylogenetic clade and have a higher risk for high-grade oligodendroglioma (HGO) than the general canine population. Despite their shared increased risk for HGO, French bulldogs treated with immunotherapy have experienced worse survival outcomes compared to boxers and Boston terriers. Given the narrow genetic pools of purebred dogs, we hypothesized that the French bulldog HGO transcriptome differs from those of boxers and Boston terriers, which may account for the disparity in survival. We performed RNA sequencing on formalin-fixed, paraffin-embedded tissue from French bulldogs, boxers, and Boston terriers to determine differentially expressed genes (DEGs) between French bulldogs and the other evaluated breeds. We identified 31 DEGs in HGO samples from French bulldogs compared to boxers and Boston terriers. Gene set enrichment analysis revealed activated enrichment of 15 cell cycle progression, oncogene, and immune pathways, including E2F targets, mTOR signaling, IL2-STAT 5 signaling, and allograft rejection. These data confirm the presence of breed- specific canine HGO transcriptomes that can be used to advance our understanding of canine glioma, its translational capacity for human glioma, and precision-based therapies for individual canine patients.
2025-01-26 | GSE284559 | GEO
Project description:Reticular Dysgenesis (RD) is a rare but devastating form of severe combined immunodeficiency, characterized by a maturation arrest of the myeloid and lymphoid lineages paired with sensorineural hearing loss. RD is caused by biallelic loss-of-function mutations in the mitochondrial enzyme adenylate kinase 2 (AK2). To study the effect of AK2 depletion on HSPC differentiation, we developed a biallelic AK2 CRISPR knock-out model using human HSPCs. AK2 depleted HSPCs display severe proliferation and myeloid differentiation defects, recapitulating RD patient phenotype.
2021-07-06 | GSE179320 | GEO
Project description:Despite significant progress in the molecular understanding of medulloblastoma, stratification of risk in patients remains a challenge. Focus has shifted from clinical parameters to molecular markers, such as expression of specific genes and selected genomic abnormalities, to improve accuracy of treatment outcome prediction. Here, we show how integration of high-level clinical and genomic features or risk factors, including disease subtype, can yield more comprehensive, accurate, and biologically interpretable prediction models for relapse versus no-relapse classification. We also introduce a novel Bayesian nomogram indicating the amount of evidence that each feature contributes on a patient-by-patient basis. The training set consisted of 96 samples for which relapse status at 30 months post-treatment was known. Matched normal blood samples were collected through the COG Tumor Bank (protocol ACNS02B3) and from Children's Hospital Boston under institutional review board approval. The test set included 78 samples: 47 samples from our original study6 not used for training, 16 samples from Kool et al,33 and 15 samples from the COG Tumor Bank. All training and test samples correspond to patients at least 3 years old treated with conventional chemotherapy, surgical resection, and craniospinal irradiation. In the test set, 15 samples (Children's Oncology Group Tumor Bank) were processed as described above. Of those 15, a total of six have DNA copy number data. Another set of 47 samples was taken from the data set from Pomeroy et al. (Affymetrix Hu6800; Affymetrix). None of those samples had DNA copy number data. The remaining 16 samples, all with DNA copy number data, came from Kool et al. (Affymetrix U133; Affymetrix).
2022-04-28 | GSE201583 | GEO
Project description:A prospective study was conducted in the Neonatal Intensive Care Unit of the University Children's hospital between September 1, 2008 and November 30, 2010. The entry criteria were (1) preterm birth below 32 weeks gestational age, (2) birthweight<1500g (VLBW). During the follow-up period, bronchopulmonary dysplasia (BPD) was diagnosed in 68 (61%) infants, including 40 (36%) children with mild disease, 13 (12%) with moderate and 15 (13%) with severe BPD. Forty-three babies served as a control group (no BPD). One hundred twenty newborns were included at the start of the study. Three blood samples (0.3 ml) were drawn from all the study participants for microarray assessment of gene expression profiles around the 5th, 14th and 28th days of life. Note that microarrays were not taken for all patients at all time points (A,B,C).
2011-11-01 | E-GEOD-32472 | biostudies-arrayexpress
Project description:Estrogen-related receptor gamma (ESRRG), an orphan nuclear receptor with structural homology to the classical estrogen receptors, is widely recognised as a key metabolic regulator. Clinical studies have suggested a link between ESRRG and auditory function; however, the biological mechanisms through which ESRRG contributes to hearing remain largely unknown. Here, we report the results of comparative transcriptome profiling by RNA-Seq as part of our characterisation of the auditory phenotype in mice carrying a newly generated conditional knockout of Esrrg in the inner ear (Esrrgfl/fl;Sox10-Cre).
2026-05-08 | GSE329565 | GEO
Project description:Reticular Dysgenesis (RD) is a rare but devastating form of severe combined immunodeficiency, characterized by a maturation arrest of the myeloid and lymphoid lineages paired with sensorineural hearing loss. RD is caused by biallelic loss-of-function mutations in the mitochondrial enzyme adenylate kinase 2 (AK2). Understanding the gene expression impact of AK2 loss-of-function on a single cell level would not only allow us to develop rational therapies for RD and other mitochondrial diseases but enable us to reconstruct metabolic changes that occur during development and how they impact cell fate decisions.
2021-07-06 | GSE179346 | GEO