Sökning: "SF3B1"

Visar resultat 1 - 5 av 7 avhandlingar innehållade ordet SF3B1.

  1. 1. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    Författare :Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

    Sammanfattning : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. LÄS MER

  3. 2. Genotype-phenotype relations in SF3B1 mutated myelodysplastic syndromes with ring sideroblasts

    Författare :Simona Conte; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Myelodysplastic syndrome with ring sideroblasts (MDS-RS) is a clonal hematopoietic stem cell disorder characterized by hyperplastic and ineffective erythropoiesis, ring sideroblasts in the bone marrow, and anemia. Heterozygous mutations in the spliceosome gene SF3B1 are found in a majority of MDS-RS cases and are associated with the ring sideroblast phenotype and a favorable prognosis. LÄS MER

  4. 3. Reappraising prognosis in chronic lymphocytic leukemia

    Författare :Panagiotis Baliakas; Richard Brandell Rosenquist; Clemens Wendtner; Uppsala universitet; []
    Nyckelord :CLL; prognosis; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Chronic lymphocytic leukemia (CLL) exhibits remarkable clinical heterogeneity likely reflecting the underlying biological heterogeneity. The genetic landscape of CLL has been recently enriched with mutations within a number of genes proposed as novel prognostic markers. LÄS MER

  5. 4. Modelling ineffective erythropoiesis in myelodysplastic syndromes with ring sideroblasts

    Författare :Edda María Elvarsdóttir; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Myelodysplastic syndromes with ring sideroblast (MDS-RS) is a clonal hematological malignancy characterized by accumulation of iron filled erythroblasts called ring sideroblasts in the bone marrow, and recurrent somatic mutations in the splicing factor gene SF3B1. The disease mainly affects elderly individuals, causing severe anemia in patients for which no curative treatment exists. LÄS MER

  7. 5. Molecular pathogenesis of refractory anemia with ring sideroblasts (RARS) : role of the mitochondrial iron transporter gene ABCB7

    Författare :Maryam Nikpour; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Refractory anemia with ring sideroblasts (RARS) is characterized by anemia, erythroid apoptosis, and mitochondrial ferritin (FTMT) accumulation. Granulocyte-colony-stimulating factor (G-CSF) inhibits some of these features in vitro and in vivo and can in combination with erythropoietin normalize hemoglobin levels. LÄS MER