Sökning: "Molecular medicine genetics and pathology"

Visar resultat 21 - 25 av 47 avhandlingar innehållade orden Molecular medicine genetics and pathology.

  1. 21. Methods for Analysis of Disease Associated Genomic Sequence Variation

    Författare :Lovisa Lovmar; Ann-Christine Syvänen; Pui-Yan Kwok; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; molecular medicine; single nucleotide polymorphism; whole genome amplification; breast cancer; endometrial cancer; human rotavirus; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

    Sammanfattning : In Molecular Medicine a wide range of methods are applied to analyze the genome to find genetic predictors of human disease. Apart from predisposing disease, genetic variations may also serve as genetic markers in the search for factors underlying complex diseases. LÄS MER

  3. 22. Proximity Ligation : Transforming protein analysis into nucleic acid detection through proximity-dependent ligation of DNA sequence tagged protein-binders

    Författare :Simon Fredriksson; Larry Gold; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; Proximity ligation; proteomics; SELEX; antibody; DNA microarray; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molecular Medicine; molekylär medicin genetik och patologi ;

    Sammanfattning : A novel technology for protein detection, proximity ligation, has been developed along with improved methods for in situ synthesis of DNA microarrays. Proximity ligation enables a specific and quantitative transformation of proteins present in a sample into nucleic acid sequences. LÄS MER

  4. 23. Microarray Technology for Genotyping in Pharmacogenetics

    Författare :Ulrika Liljedahl; Ann-Christine Syvänen; Denis Grant; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; genotyping; pharmacogenetics; molecular medicine; single nucleotide polymorphism; hypertension; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

    Sammanfattning : The studies in this thesis describe the development of a microarray based minisequencing system and its application to highly parallel genotyping of single nucleotide polymorphisms. The technical developments included identification of a three-dimensional microarray surface coating with high binding capacity for oligonucleotides modified with amino groups as the most optimal one for the system. LÄS MER

  5. 24. Ligation-mediated Molecular Analysis of Influenza Subtypes, Splicing and Protein Glycosylation

    Författare :Tim Conze; Ulf Landegren; Mats Nilsson; Ola Söderberg; Jörn Glökler; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ligase; proximity ligation; gastric cancer; glycosylation; alternative splicing; avian influenza; padlock probe; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : Binder-based assays are employed throughout the life sciences. Powerful signal amplification techniques have enabled detection of very rare molecule species diluted in simple buffers. Unspecific binding of primary binders leads to increased background in more complex samples. LÄS MER

  7. 25. RAS-MAPK syndromes - a Clinical and Molecular Investigation

    Författare :Anna-Maja Nyström; Marie-Louise Bondeson; Göran Annerén; Anna Wedell; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RAS-MAPK syndromes; Noonan syndrome; Neurofibromatosis type I; cardio-facio-cutaneous syndrome; mutation; multiplex ligation-dependent probe amplification; gene; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Klinisk genetik; Clinical Genetics;

    Sammanfattning : The RAS-MAPK syndromes are a group of clinically and genetically related disorders, characterized by cardiac defects, facial dysmorphism, cutaneous abnormalities and neurocognitive impairment. The pathogenesis is dysregulation of the RAS-MAPK pathway, and several genes within the pathway are involved. LÄS MER