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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
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Acute monoblastic/monocytic leukemiaAnemia, RefractoryAnemia, Refractory, with Excess of BlastsAnemia, SideroblasticLeukemia, Erythroblastic, AcuteLeukemia, Megakaryoblastic, AcuteLeukemia, Myelogenous, Chronic, BCR-ABL PositiveLeukemia, Myeloid, AcuteLeukemia, Myelomonocytic, AcuteLeukemia, Myelomonocytic, ChronicMastocytosisMyelodysplastic SyndromesMyelodysplastic-Myeloproliferative DiseasesOncogene Proteins, FusionPolycythemia VeraPrimary MyelofibrosisSarcoma, MyeloidThrombocythemia, Essential
- Access Rights
- Free to All
- Local Expert
- Papaemmanuil, Elli
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RNA sequencing of bone marrow CD34+ cells from myelodysplastic syndrome patients with and without SF3B1 mutation and from healthy controls
- Authors
- Dolatshad, HamidPellagatti, 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...
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Anemia, RefractoryMutationMyelodysplastic SyndromesRNA Splicing FactorsRNA-SeqTranscriptome
- Access Rights
- Free to All
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Physiologic expression of Sf3b1K700E causes impaired erythropoieses, aberrant splicing, and sensitivity to pharmacologic spliceosome modulation
- Authors
- Seiler, MichaelObeng, 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
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Anemia, MacrocyticAnemia, RefractoryErythropoiesisGene Expression ProfilingMyelodysplastic SyndromesSpliceosomes
- Access Rights
- Free to All