Sökning: "ribosomal protein S19 gene"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden ribosomal protein S19 gene.

  1. 1. 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

  3. 2. Diamond-Blackfan anemia : Mapping and identification of the disease gene

    Författare :Peter Gustavsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. LÄS MER

  4. 3. 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. 4. Diamond-Blackfan Anemia: Erythropoiesis Lost in Translation

    Författare :Johan Flygare; Stefan Karlsson; Avdelningen för molekylärmedicin och genterapi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; extracellular fluids; Hematologi; Haematology; RNA interference; Erythropoiesis; Lentiviral vectors; Nucleolus; Diamond-Blackfan anemia; Gene therapy; extracellulära vätskor;

    Sammanfattning : Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least four genes are associated with DBA of which two have been identified so far. LÄS MER

  7. 5. The importance of maturation factors in 30S ribosomal subunit assembly

    Författare :Stefan Nord; Mikael Wikström; Dan Andersson; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Ribosome; 30S; rRNA; RimP; RbfA; C23U; rpsE; Molecular biology; Molekylärbiologi; molekylärbiologi; Molecular Biology;

    Sammanfattning : The assembly of the ribosome is a complex process that needs to be highly efficient to support maximum growth. Although the individual subunits of the ribosome can be reconstituted in vitro, such a reaction is inefficient in comparison to the assembly rate in vivo. LÄS MER