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  • Cellular states, clonal dynamics, and evolution in Pearson syndrome revealed via single-cell multi-omics [Celline_scATAC]

    Authors
    Lareau, Caleb A.
    Ludwig, Leif S.
    Description

    Summary from GEO: "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...

    Subject
    Anemia, Sideroblastic
    Binding sites
    Fibroblasts
    Genomics
    Heteroplasmy/genetics
    Myelodysplastic Syndromes
    Single-Cell Analysis
    Access Rights
    Free to All
  • Cellular states, clonal dynamics, and evolution in Pearson syndrome revealed via single-cell multi-omics [PBMC_scRNA]

    Authors
    Lareau, Caleb A.
    Ludwig, Leif S.
    Description

    Summary from GEO: "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...

    Subject
    Anemia, Sideroblastic
    Gene Expression Profiling
    Genomics
    Heteroplasmy/genetics
    Leukocytes, Mononuclear
    Myelodysplastic Syndromes
    Single-Cell Analysis
    Access Rights
    Free to All
  • Cellular states, clonal dynamics, and evolution in Pearson syndrome revealed via single-cell multi-omics [PBMC_scATAC]

    Authors
    Lareau, Caleb A.
    Ludwig, Leif S.
    Description

    Summary from GEO: "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...

    Subject
    Anemia, Sideroblastic
    Binding sites
    Genomics
    Heteroplasmy/genetics
    Leukocytes, Mononuclear
    Myelodysplastic Syndromes
    Single-Cell Analysis
    Access Rights
    Free to All