Search for dissertations about: "Diamond model"

Showing result 1 - 5 of 48 swedish dissertations containing the words Diamond model.

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

   Author : Peter Gustavsson; Uppsala universitet; []
   Keywords : 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;

   Abstract : 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. READ MORE

4. 2. The Activity Diamond - Modeling an Enhanced Accessibility

   Author : Per-Olof Hedvall; Bodil Jönsson; Victor Kaptelinin; Certec - Rehabiliteringsteknik och Design; []
   Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; NATURVETENSKAP; NATURAL SCIENCES; Activity Diamond; Cultural-historical Activity Theory; Disability; Epiaccessibility; Accessibility; Lived Accessibility; Design; ICF; Social model; Activity Diamond; Cultural-historical Activity Theory; Disability; Epiaccessibility; Accessibility; Lived Accessibility; Design; ICF; Social model;

   Abstract : The purpose of the research presented in this thesis is to enhance the field of accessibility to include a multitude of perspectives. Based on cultural-historical activity theory (CHAT), it analyzes how human, artifactual and natural factors impact an individual’s possibilities to act in concrete situations that are part of a systemic whole. READ MORE

5. 3. 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

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. Deep subduction of the Seve Nappe Complex in the Scandinavian Caledonides

   Author : Iwona Klonowska; Jarosław Majka; Peter Lazor; Marian Janák; Bjarne Almqvist; Jane Gilotti; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; geothermobarometry; thermodynamic modelling; Raman spectroscopy; diamond; ultrahigh-pressure metamorphism; eclogite; peridotite; gneiss;

   Abstract : This thesis seeks to improve our understanding of the processes involved in continental collision zones, with a particular focus on subduction-exhumation. The main objective of this work has been to define the tectonometamorphic evolution of the deeply subducted Seve Nappe Complex (SNC) in the Scandinavian Caledonides. READ MORE