Sökning: "Rps19"
Visar resultat 1 - 5 av 11 avhandlingar innehållade ordet Rps19.
1. Studies of the Ribosomal Protein S19 in Erythropoiesis
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
2. Ribosomal Proteins in Diamond-Blackfan Anemia : Insights into Failure of Ribosome Function
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
3. Molecular Studies of Diamond-Blackfan Anemia and Congenital Nail Dysplasia
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
4. Diamond-Blackfan Anemia: Erythropoiesis Lost in Translation
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. Modeling Diamond-Blackfan Anemia in the Mouse: Disease Pathogenesis and Evaluation of Novel Therapies
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