Sökning: "Diamond-Blackfan"

Visar resultat 1 - 5 av 13 avhandlingar innehållade ordet Diamond-Blackfan.

  1. 1. 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

  3. 2. Ribosomal Proteins in Diamond-Blackfan Anemia : Insights into Failure of Ribosome Function

    Författare :Jitendra Badhai; Niklas Dahl; Anthony Wright; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diamond-Blackfan anemia; RPS19; Ribosomal proteins; Haploinsufficiency; cell cycle; Apoptosis; Erythropoiesis; Medical genetics; Medicinsk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Diamond-Blackfan anemia (DBA) is a severe congenital anemia characterized by a defect in red blood cell production. The disease is associated with growth retardation, malformations, a predisposition for malignant disease and heterozygous mutations in either of the ribosomal protein (RP) genes RPS7, RPS17, RPS19, RPS24, RPL5, RPL11 and RPL35a. LÄS MER

  4. 3. 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

  5. 4. On new and current treatments for Diamond-Blackfan anemia

    Författare :Sara Sjögren; Avdelningen för molekylärmedicin och genterapi; []
    Nyckelord :Diamond-Blackfan anemia; Erythropoiesis; Ribosome biogenesis; Heme synthesis; Glucocorticoids; p53; Globin translation; HRI; a1-microglobulin;

    Sammanfattning : Diamond-Blackfan anemia (DBA) is a rare congenital disease where the patients suffer from macrocytic anemia due to reduced numbers of erythroid precursors in the bone marrow. Most patients carry mutations in ribosomal proteins, such as ribosomal protein S19 (RPS19), which causes deficient ribosome biogenesis and affects protein translation. LÄS MER

  7. 5. Molecular Studies of Diamond-Blackfan Anemia and Congenital Nail Dysplasia

    Författare :Anne-Sophie Fröjmark; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diamond-Blackfan Anemia; RPS19; RPS24; PIM-1; Erythropoiesis; Cell cycle; Apoptosis; Nail dysplasia; FZD6; WNT signaling; Clinical genetics; Klinisk genetik;

    Sammanfattning : The aim of this thesis is to investigate the effect of genetic mutations on the pathophysiology of two human disorders: Diamond-Blackfan Anemia (DBA) and isolated congenital nail dysplasia. The first part of this thesis (Paper I-III) investigates the mechanism associated with DBA. LÄS MER