Sökning: "Wilbe"

Hittade 4 avhandlingar innehållade ordet Wilbe.

  1. 1. Genetic dynamics of HIV-1 : recombination, drug resistance and intrahost evolution

    Författare :Karin Wilbe; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :HIV-1; genetic evolution; recombination; drug resistance; intrahost evolution;

    Sammanfattning : A striking characteristic of HIV is the enormous capacity of genetic variation. Frequent mutations, deletions, insertions and recombination events create a population of genetically related but non-identical viruses that is under constant change and ready to adapt to environmental changes. LÄS MER

  3. 2. Discovery of a novel pathway for an SLE-related disease complex in the canine breed Nova Scotia duck tolling retriever

    Författare :Maria Wilbe; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : The dog is an excellent model to study inherited complex diseases, due to its unique population history and haplotype structure. In this thesis, dogs from the breed Nova Scotia duck tolling retriever (NSDTR) have been used as a model for defining the genetic factors controlling a systemic lupus erythematosus (SLE)-related disorder called immune-mediated rheumatic disease (IMRD) and a steroid responsive meningitis-arteritis (SRMA). LÄS MER

  4. 3. Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    Författare :Sanna Gudmundsson; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; translational research; Mendelian disorders; intellectual disability; sequencing technologies;

    Sammanfattning : Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. LÄS MER

  5. 4. Advanced Genomic Tools in Translational Research of Neurodevelopmental Disorders

    Författare :Josefin Johansson; Maria Wilbe; Joris Vermeesch; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; neurodevelopmental disorders; translational research; advanced genomic technologies; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Neurodevelopmental disorders (NDDs) affect >4.7% of individuals world-wide. Most cases are expected to have an underlying genetic cause. However, only 36–40% of those affected get a genetic diagnosis through exome sequencing. LÄS MER