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Results Found: 12
  • Germ Cell Tumors and Shared Leukemias: Targeted and WES sequencing of germ cell tumor and shared leukemia samples

    Description

    This dataset contains the summary data visualizations and clinical data of 21 samples from 11 patients of targeted and WES sequencing of germ cell tumor and shared leukemia samples. Clinical data includes: Cancer Type, Number of Samples per Patient, Mutation Count, Fraction Genome Altered, Specimen Preservation Type, Platform and Somatic Status. The plaintext components of the dataset can be downloaded...

    Subject
    Histiocytic Sarcoma
    Killer Cells, Natural
    Leukemia, Myeloid, Acute
    Leukemia, Myelomonocytic, Chronic
    Lymphohistiocytosis, Hemophagocytic
    Lymphoma, T-Cell
    Myelodysplastic Syndromes
    Neoplasms, Germ Cell and Embryonal
    Access Rights
    Free to All
  • Myelodysplastic (MSKCC, 2020): Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms

    Description

    This dataset contains the summary data visualizations and clinical data from 4,231 myeloid neoplasm samples from 4,231 patients. Clinical data includes: Cancer Type, Cancer Type Detailed, Mutation Count, Oncotree Code, Sequencing Type, Somatic Status, Study. The plaintext components of the dataset can be downloaded as a tar file. The clinical data can be downloaded as a tsv file.

    Subject
    Acute monoblastic/monocytic leukemia
    Anemia, Refractory
    Anemia, Refractory, with Excess of Blasts
    Anemia, Sideroblastic
    Leukemia, Erythroblastic, Acute
    Leukemia, Megakaryoblastic, Acute
    Leukemia, Myelogenous, Chronic, BCR-ABL Positive
    Leukemia, Myeloid, Acute
    Leukemia, Myelomonocytic, Acute
    Leukemia, Myelomonocytic, Chronic
    Mastocytosis
    Myelodysplastic Syndromes
    Myelodysplastic-Myeloproliferative Diseases
    Oncogene Proteins, Fusion
    Polycythemia Vera
    Primary Myelofibrosis
    Sarcoma, Myeloid
    Thrombocythemia, Essential
    Access Rights
    Free to All
    Local Expert
    Papaemmanuil, Elli
  • (Metabolome analysis data): Mutant ASXL1 induces age-related expansion of phenotypic hematopoietic stem cells through activation of Akt/mTOR pathway

    Authors
    Kitamura, Toshio
    Description

    Description from MassIVE: Somatic mutations of ASXL1 are frequently detected in age-related clonal hematopoiesis (CH). However, how ASXL1 mutations drive CH remains elusive. Using knockin (KI) mice expressing a C-terminally truncated form of ASXL1-mutant (ASXL1-MT), we examined the influence of ASXL1-MT on physiological aging in hematopoietic stem cells (HSCs). HSCs expressing ASXL1-MT display competitive...

    Subject
    Clonal Hematopoiesis
    Hematopoietic Stem Cells
    Metabolome
    Myelodysplastic Syndromes
    Access Rights
    Free to All
  • Data from: Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1

    Authors
    Jin, Shuiling
    Su, Hairui
    Tran, Ngoc-Tung
    Song, Jing
    6 more author(s)...
    Description

    Summary from Dryad: "Abstract: More than 60% of myeloid dysplasia syndrome (MDS) contains mutations in genes encoding for splicing factors such as SF3B1, U2AF, SRSF2 and ZRSR2. Mutations in SF3B1 are associated with 80% cases of refractory anemia with ring sideroblast (RARS), a subtype of MDS. SF3B1K700E is the most frequently mutated site among mutations on SF3B1. Yet the molecular mechanisms on...

    Subject
    Alternative splicing
    K562 Cells
    Myelodysplastic Syndromes
    Transcription Factors
    Access Rights
    Free to All
  • 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
  • Physiologic expression of Sf3b1K700E causes impaired erythropoieses, aberrant splicing, and sensitivity to pharmacologic spliceosome modulation

    Authors
    Seiler, Michael
    Obeng, Esther A.
    Description

    Summary from GEO: "Over 80% of patients with the refractory anemia with ring sideroblasts subtype of myelodysplastic syndrome (MDS) have mutations in Splicing Factor 3B, Subunit 1 (SF3B1). We generated a conditional knock-in mouse model of the most common SF3B1 mutation, Sf3b1K700E. Sf3b1K700E mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and...

    Subject
    Anemia, Macrocytic
    Anemia, Refractory
    Erythropoiesis
    Gene Expression Profiling
    Myelodysplastic Syndromes
    Spliceosomes
    Access Rights
    Free to All
  • RNA sequencing of bone marrow CD34+ cells from myelodysplastic syndrome patients with and without SF3B1 mutation and from healthy controls

    Authors
    Dolatshad, Hamid
    Pellagatti, Andrea
    Description

    Summary from GEO: "The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndromes (MDS), particularly in patients with refractory anemia with ring sideroblasts (RARS). MDS is a disorder of the hematopoietic stem cell and we thus studied the transcriptome of CD34+ cells from MDS patients with SF3B1 mutations using RNA-sequencing. Genes significantly differentially expressed...

    Subject
    Anemia, Refractory
    Mutation
    Myelodysplastic Syndromes
    RNA Splicing Factors
    RNA-Seq
    Transcriptome
    Access Rights
    Free to All
  • Methylation of Dual Specificity Phosphatase 4 Controls Cell Differentiation

    Authors
    Jiang, Ming
    Luo, Minkui
    Description

    Summary from GEO: "Mitogen-activated protein kinases are inactivated by dual specificity phosphatases (DUSPs), whose activities are tightly regulated during cell differentiation. Using knockdown screening and single-cell transcriptional analysis, we determined that DUSP4 is the phosphatase that specifically inactivates p38 kinase for the promotion of megakaryocyte (Mk) differentiation. Mechanistically,...

    Subject
    Cell Differentiation
    Mitogen-Activated Protein Kinases
    Myelodysplastic Syndromes
    RNA-Seq
    Single-Cell Analysis
    Access Rights
    Free to All