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  • 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
  • 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
  • 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