Sökning: "Diamond-Blackfan Anemia"

Visar resultat 6 - 10 av 11 avhandlingar innehållade orden Diamond-Blackfan Anemia.

  1. 6. Development of novel therapies for Diamond-Blackfan Anemia

    Författare :Shubhranshu Debnath; Hematopoes och genterapi; []
    Nyckelord :;

    Sammanfattning : Diamond-Blackfan anemia is a congenital erythroid hypoplasia manifesting early inlife. In at least 60-70% of cases, DBA is caused by a functional haploinsufficiencyof genes encoding for ribosomal proteins. Approximately, 25% percent of patientshave mutations in the gene encoding ribosomal protein S19 (RPS19). LÄS MER

  3. 7. Studies of the Ribosomal Protein S19 in Erythropoiesis

    Författare :Hans Matsson; Niklas Dahl; Leif Carlsson; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; RPS19; Rps19; erythropoiesis; erythroblastopenia; Diamond-Blackfan; anemia; Genetik; Genetics; Genetik;

    Sammanfattning : Ribosomal proteins are components of the ribosome, the protein synthesis machinery. The ribosomal protein S19 gene (RPS19) is mutated in Diamond-Blackfan anemia, DBA, which is a rare congenital anemia with absence or reduction of erythroid precursors in bone marrow. In this thesis, the role of RPS19 in erythropoiesis is investigated. LÄS MER

  4. 8. Cell and gene therapy for blood disorders. Modeling of novel treatment strategies for Gaucher type 1 disease and Diamond-Blackfan anemia in mice

    Författare :Maria Dahl; Avdelningen för molekylärmedicin och genterapi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gaucher disease; lentiviral vectors; gene therapy; Diamond-Blackfan anemia; hematopoietic stem cells; bone marrow transplant; Schlafen-2;

    Sammanfattning : Gaucher disease type 1 (GD type 1) and Diamond-Blackfan anemia (DBA) are rare genetic disorders affecting the hematopoietic system and routinely treated by administration of drugs with variable clinical efficacy. Though effective in alleviating disease symptoms in large cohorts of patients, these treatment options have the major drawback of being non-curative. LÄS MER

  5. 9. Modeling Diamond-Blackfan Anemia in the Mouse: Disease Pathogenesis and Evaluation of Novel Therapies

    Författare :Pekka Jaako; Avdelningen för molekylärmedicin och genterapi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia that presents early in infancy. The main hematopoietic symptoms include macrocytic anemia with reticulocytopenia and selective absence of erythroid precursors in a normocellular bone marrow. LÄS MER

  7. 10. Pure red cell aplasia in Swedish children : clinical features, epidemiological and etiological aspects of transient erythroblastopenia of childhood and Diamond-Blackfan anemia

    Författare :Gunnar Skeppner; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Background: Anemia due to impaired erythropoiesis is a rare condition that is more common in children than in adults. Pure red cell aplasia (PRCA) is the term used to denote anemia due to failure of the bone marrow that affects only the erythropoietic cell line. PRCA exists in two forms only presented in children. LÄS MER