Search for dissertations about: "gene disorders"

Showing result 1 - 5 of 502 swedish dissertations containing the words gene disorders.

  2. 1. Gene Therapy for Neurological Disorders

    Author : Jan Tönnesen; Lund Neurologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epileptiform activity; striatum; organotypic culture; electrophysiology; Wnt5a; synaptic connectivity.; cell transplantation; hippocampus; neural stem cells; epilepsy; functional integration; Parkinson’s disease; optogenetics; Gene therapy;

    Abstract : Gene therapy is an attractive strategy for neurological disorders, such as Parkinson’s disease and epilepsy, for several reasons. Introduction of genes with a therapeutic potential can be achieved locally, by accurate injections in the compromised tissue, and release of a transgene therapeutic substance can be regulated by the surrounding host neural circuitry. READ MORE

  4. 2. Gene and pathway associations in neurodevelopmental disorders

    Author : Mitra Etemadikhah; Lars Feuk; Kristiina Tammimies; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gene expression analyses; Neurodevelopmental disorders; Intellectual disability; Schizophrenia;

    Abstract : Neurodevelopmental disorders are complex and heterogenous disorders affecting brain development. In this thesis, we study intellectual disability (ID) and schizophrenia, and we applied genomic, transcriptomic, and proteomic techniques to identify and further investigate candidate variants and important genes and pathways involved in pathology of these two disorders. READ MORE

  5. 3. Clinical and genetic studies of three inherited skeletal disorders

    Author : Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal disorders; osteochondritis dissecans; ACAN-gene; multiple epiphyseal dysplasia; brachydactyly type A1; IHH-gene; Medical genetics; Medicinsk genetik; klinisk genetik; Clinical Genetics;

    Abstract : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. READ MORE

  6. 4. Genetic Analysis of Quantitative Traits Using Domestic Animals : A Candidate Gene and Genome Scanning Approach

    Author : Hee-Bok Park; Leif Andersson; Stefan Marklund; Robert Fredricksson; Holger Luthman; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Domestication; horse; pig; chicken; quantitative traits; candidate gene; genome scan; PRKAG3; MC4R; selection experiment; growth; correlated response; metabolic disorders; Quantitative Trait Loci; linkage; single nucleotide polymorphisms; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Domestication has led to genetic changes that affect quantitative traits in farm animals. Both candidate gene analysis using association tests and genome scans based on linkage analysis have been performed to understand the molecular basis underlying quantitative genetic variation in horses, pigs and chickens. READ MORE

  7. 5. Development of lentiviral vectors for CNS gene transfer

    Author : Johan Jakobsson; Brain Repair and Imaging in Neural Systems (BRAINS); []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicin människa och djur ; Medicine human and vertebrates ; Biotechnology; Gene Therapy; Neurological disorders;

    Abstract : Gene therapy in the brain is a promising treatment strategy that in the future may be used for several brain disorders, including Parkinson's disease, Alzheimer's disease and lysosomal storage diseases. By introducing a new gene, rather than providing a classical pharmacological drug, gene therapy offers the opportunity to treat neurological disorders by a single intervention. READ MORE