Ontology highlight
ABSTRACT:
PROVIDER: PRJNA831862 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR18915816_1.fastq.gz | Fastqsanger.gz | |||
| SRR18915816_2.fastq.gz | Fastqsanger.gz | |||
| SRR18915817_1.fastq.gz | Fastqsanger.gz | |||
| SRR18915817_2.fastq.gz | Fastqsanger.gz | |||
| SRR18915818_1.fastq.gz | Fastqsanger.gz |
Items per page: 5 1 - 5 of 96 |
Similar Datasets
Project description:Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from cultured cells. Five cell lines (MOLM-13, SKM-1, F-36P, SKK-1 and OHN-GM) derived from myelodysplastic syndrome patients after progression to acute myeloid leukemia have been studied by flow cytometry, conventional cytogenetics and whole genome single nucleotide polymorphism microarrays, in order to deeply characterize.
2017-01-01 | GSE80314 | GEO
Project description:Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state features in thousands of single cells. By profiling primary hematopoietic cells from three patients with Pearson Syndrome, we resolve the interdependence between pathogenic mtDNA heteroplasmy and cell lineage, including purifying selection against mtDNA deletions in effector-memory CD8 T-cell populations. We further observe widespread Pearson-specific transcriptomic changes in peripheral blood mononuclear cells. Additionally, single-cell analyses of in vivo and in vitro cultured bone marrow mononuclear cells reveal multi-faceted clonal dynamics and purifying selection in a patient with both Pearson Syndrome and Myelodysplastic Syndrome (MDS). Our results identify specific molecular perturbations underlying Pearson Syndrome and more generally provide a powerful framework to utilize multi-omics in the study of evolution in disease within single cells.
2023-04-14 | GSE173934 | GEO
Project description:Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state features in thousands of single cells. By profiling primary hematopoietic cells from three patients with Pearson Syndrome, we resolve the interdependence between pathogenic mtDNA heteroplasmy and cell lineage, including purifying selection against mtDNA deletions in effector-memory CD8 T-cell populations. We further observe widespread Pearson-specific transcriptomic changes in peripheral blood mononuclear cells. Additionally, single-cell analyses of in vivo and in vitro cultured bone marrow mononuclear cells reveal multi-faceted clonal dynamics and purifying selection in a patient with both Pearson Syndrome and Myelodysplastic Syndrome (MDS). Our results identify specific molecular perturbations underlying Pearson Syndrome and more generally provide a powerful framework to utilize multi-omics in the study of evolution in disease within single cells.
2023-04-14 | GSE173933 | GEO
Project description:Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state features in thousands of single cells. By profiling primary hematopoietic cells from three patients with Pearson Syndrome, we resolve the interdependence between pathogenic mtDNA heteroplasmy and cell lineage, including purifying selection against mtDNA deletions in effector-memory CD8 T-cell populations. We further observe widespread Pearson-specific transcriptomic changes in peripheral blood mononuclear cells. Additionally, single-cell analyses of in vivo and in vitro cultured bone marrow mononuclear cells reveal multi-faceted clonal dynamics and purifying selection in a patient with both Pearson Syndrome and Myelodysplastic Syndrome (MDS). Our results identify specific molecular perturbations underlying Pearson Syndrome and more generally provide a powerful framework to utilize multi-omics in the study of evolution in disease within single cells.
2023-04-14 | GSE173931 | GEO
Project description:Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state features in thousands of single cells. By profiling primary hematopoietic cells from three patients with Pearson Syndrome, we resolve the interdependence between pathogenic mtDNA heteroplasmy and cell lineage, including purifying selection against mtDNA deletions in effector-memory CD8 T-cell populations. We further observe widespread Pearson-specific transcriptomic changes in peripheral blood mononuclear cells. Additionally, single-cell analyses of in vivo and in vitro cultured bone marrow mononuclear cells reveal multi-faceted clonal dynamics and purifying selection in a patient with both Pearson Syndrome and Myelodysplastic Syndrome (MDS). Our results identify specific molecular perturbations underlying Pearson Syndrome and more generally provide a powerful framework to utilize multi-omics in the study of evolution in disease within single cells.
2023-04-14 | GSE173930 | GEO
Project description:Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state features in thousands of single cells. By profiling primary hematopoietic cells from three patients with Pearson Syndrome, we resolve the interdependence between pathogenic mtDNA heteroplasmy and cell lineage, including purifying selection against mtDNA deletions in effector-memory CD8 T-cell populations. We further observe widespread Pearson-specific transcriptomic changes in peripheral blood mononuclear cells. Additionally, single-cell analyses of in vivo and in vitro cultured bone marrow mononuclear cells reveal multi-faceted clonal dynamics and purifying selection in a patient with both Pearson Syndrome and Myelodysplastic Syndrome (MDS). Our results identify specific molecular perturbations underlying Pearson Syndrome and more generally provide a powerful framework to utilize multi-omics in the study of evolution in disease within single cells.
2023-04-14 | GSE217449 | GEO
Project description:Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state features in thousands of single cells. By profiling primary hematopoietic cells from three patients with Pearson Syndrome, we resolve the interdependence between pathogenic mtDNA heteroplasmy and cell lineage, including purifying selection against mtDNA deletions in effector-memory CD8 T-cell populations. We further observe widespread Pearson-specific transcriptomic changes in peripheral blood mononuclear cells. Additionally, single-cell analyses of in vivo and in vitro cultured bone marrow mononuclear cells reveal multi-faceted clonal dynamics and purifying selection in a patient with both Pearson Syndrome and Myelodysplastic Syndrome (MDS). Our results identify specific molecular perturbations underlying Pearson Syndrome and more generally provide a powerful framework to utilize multi-omics in the study of evolution in disease within single cells.
2023-04-14 | GSE217448 | GEO
Project description:The ETCTN 10026 study tested decitabine and ipilimumab for transplant-naive advanced myelodysplastic syndrome/acute myeloid leukemia and relapsed acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation. Using single cell RNA sequencing, determinants of response (higher T/NK to myeloid cell ratio in responders) and resistance (insufficient clearance of AML clones) were identified and pharmacodynamics of decitabine (cytoreduction) and ipilimumab (increase in regulatory T cells) characterized.
2023-10-31 | GSE223844 | GEO
Project description:Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state features in thousands of single cells. By profiling primary hematopoietic cells from three patients with Pearson Syndrome, we resolve the interdependence between pathogenic mtDNA heteroplasmy and cell lineage, including purifying selection against mtDNA deletions in effector-memory CD8 T-cell populations. We further observe widespread Pearson-specific transcriptomic changes in peripheral blood mononuclear cells. Additionally, single-cell analyses of in vivo and in vitro cultured bone marrow mononuclear cells reveal multi-faceted clonal dynamics and purifying selection in a patient with both Pearson Syndrome and Myelodysplastic Syndrome (MDS). Our results identify specific molecular perturbations underlying Pearson Syndrome and more generally provide a powerful framework to utilize multi-omics in the study of evolution in disease within single cells.
2023-04-14 | GSE173935 | GEO