Sökning: "inborn"

Visar resultat 1 - 5 av 45 avhandlingar innehållade ordet inborn.

1. 1. New Roles of Filamins in Cell Signaling, Transcription and Organ Development

   Författare :Xianghua Zhou; Göteborgs universitet; []
   Nyckelord :filamins; cell movement; hypoxia-inducible factor 1; proto-oncogene proteins c-met; mice; knockout; F-actin-binding proteins; integrins; GTB phosphohydrolases; genetic diseases; inborn; vascular endothelial cell growth factor A; Smad2 protein; hepatocyte growth factor; cartilage; osteogenesis; neovascularization; neoplasm metastasis;

   Sammanfattning : Filamins are large actin-binding proteins that stabilize delicate three-dimensional actin networks and link them to cellular membranes. They integrate cell architectural and signaling functions and are essential for cell locomotion and development. LÄS MER

3. 2. Inborn errors in the metabolism of glutathione

   Författare :Ellinor Ristoff; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Glutathione; glutathione synthetase; 5-oxoprolinuria; gamma-glutamylcysteine; gamma-glutamylcysteine synthetase; gamma-glutamyl cycle; ROS;

   Sammanfattning : Glutathione (GSH) is a tripeptide present in all mammalian cells. It takes part in several fundamental biological functions, including handling of reactive oxygen species (ROS), detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA and leukotrienes, as well as neurotransmission/neuromodulation. LÄS MER

4. 3. “Only Leave Them to Themselves” : Frances Brooke’s Fictional Worlds of Emancipatory Sensibility

   Författare :Michaela Vance; Frida Beckman; Stefano Fogelberg Rota; Ian Haywood; Bo Ekelund; Paula Backscheider; Stockholms universitet; []
   Nyckelord :HUMANIORA; HUMANITIES; Frances Brooke; education; inborn virtue; sensibility; Christianity; Rousseau; Locke; fictional worlds; modal constraints; opera; tragedy; novel; periodical; eighteenth century; English; engelska;

   Sammanfattning : In conversation but frequently at odds with contemporary voices on education, British eighteenth-century writer Frances Brooke (1724-1789) argued for a thoroughly revised approach to moral education that relied on the emancipatory potential of inborn sensibility. This thesis considers Brooke’s original texts, which range from periodical writing, novels, tragedies, operas, and prefaces, in the light of education, sensibility, and form, with the intention of expanding our understanding of Brooke’s contribution to eighteenth-century proto-feminist debates. LÄS MER

5. 4. Epidemiological and genetic studies of muliple sclerosis with focus on the Swedish county of Värmland

   Författare :Margarita Callander; Anders Svenningsson; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Genetic predisposition to disease; Genetic predisposition to disease; Cluster analysis; Muliple sclerosis; Pedigree; Medical genetics; Medicinsk genetik;

   Sammanfattning : The aim of this study was to perform detailed investigations of a presumed high-risk area, namely the county of Värmland, to see if previous results from our group indicating a high frequency of multiple sclerosis (MS) could be confirmed. We soon identified an aggregation of MS cases in the parish of Lysvik located in the north of Värmland and initiated epidemiological and genetical analyses of the population. LÄS MER

7. 5. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases

   Författare :Jimmy Sundblom; Anja Smits; Raili Raininko; Niklas Dahl; Klas Kullander; Åsa Fex-Svenningsen; Marianne de Visser; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Leukoencephalopathies; Lamin type B; Muscular disease; Caveolin 3; Neurology; Neurologi;

   Sammanfattning : There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. LÄS MER