Search for dissertations about: "RPS19"

Showing result 1 - 5 of 11 swedish dissertations containing the word RPS19.

2. 1. Studies of the Ribosomal Protein S19 in Erythropoiesis

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

   Abstract : 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. READ MORE

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

   Author : Jitendra Badhai; Niklas Dahl; Anthony Wright; Uppsala universitet; []
   Keywords : 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;

   Abstract : 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. READ MORE

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

   Author : Anne-Sophie Fröjmark; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
   Keywords : 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;

   Abstract : 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. READ MORE

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

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

   Abstract : 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. READ MORE

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

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

   Abstract : 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. READ MORE