Search for dissertations about: "XLA"

Showing result 6 - 10 of 12 swedish dissertations containing the word XLA.

  2. 6. Newborn screening for severe primary immunodeficiencies

    Author : Stephan Borte; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Primary immunodeficiencies (PID) are congenital disorders of immune competence, which are mainly characterized by a pathological susceptibility to infection. This is often accompanied by severe recurrent infections with drug-resistant, long progressions. READ MORE

  4. 7. Molecular dissection of Bruton’s tyrosine kinase signaling in hematopoietic cells using RNAi

    Author : Juhana E Heinonen; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : RNA mediated gene silencing, RNA interference (RNAi), has recently been identified in mammalians. This thesis describes the utilization and development of RNAi based tools for signal transduction research. The effects of Bruton s tyrosine kinase (Btk) down-regulation with RNAi have been studied with gene expression profiling in hematopoietic cells. READ MORE

  5. 8. Design and application of RNA therapeutics for splice site mutations

    Author : Burcu Bestas; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Precursor messenger RNA splicing is one of the most fundamental and complex mechanisms in eukaryotes. Over 90% of the human genes undergo alternative splicing, which is essential for the regulation of gene expression. A dynamic RNA-protein complex called the spliceosome catalyzes splicing. READ MORE

  6. 9. Gene expression analysis of Tec family kinases in B- and T-lymphocytes

    Author : K Emelie M Blomberg; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The microarray technology is a powerful tool used in many different research areas. The technique has been around for more than a decade and has revolutionized the molecular biology field. In this thesis the Affymetrix GeneChip® arrays were used to study the transcriptomes of Tec family kinase mutant mouse models. READ MORE

  7. 10. Tools and annotations for variation

    Author : Gerard C.P. Schaafsma; Proteinbioinformatik; []
    Keywords : Annotation; genetic variation; benchmarks; databases; disease groups; pathogenicity; proteins; representativeness; sensitivity; variant effect analysis;

    Abstract : Since the finishing of the Human Genome Project, many next-generation (NGS) or high-throughput sequencing platforms have emerged. One of the applications of NGS technology, variant discovery, can serve as a basis for precision medicine. READ MORE