Sökning: "variant analysis"

Visar resultat 21 - 25 av 370 avhandlingar innehållade orden variant analysis.

  1. 21. Mutational analysis of melanocortin receptors 1 and 5

    Författare :Per-Anders Frändberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pharmaceutical biosciences; Melanocortin receptor; melanocortin peptide; MSH; NDP-MSH; mutagenesis human phenotype; Farmaceutisk biovetenskap; Biopharmacy; Biofarmaci; galenisk farmaci; Pharmaceutics;

    Sammanfattning : The melanocortin receptor family includes five subtypes, named MC1R to MC5R. Melanocortin receptors are predominantly coupled to second messenger pathway of cyclic AMP through coupling to G-protein. This study is focused on structure-function relationship of MC1R and MC5R. LÄS MER

  3. 22. Hidden patterns that matter : statistical methods for analysis of DNA and RNA data

    Författare :Therese Kellgren; Patrik Rydén; Sara Sjöstedt de Luna; Rebecka Jörnsten; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Genome; Next-generation sequence; statistics; microarrays; bacteria; antibiotic resistance; inherited diseases; Co-expression networks; centralization within subgroups;

    Sammanfattning : Understanding how the genetic variations can affect characteristics and function of organisms can help researchers and medical doctors to detect genetic alterations that cause disease and reveal genes that causes antibiotic resistance. The opportunities and progress associated with such data come however with challenges related to statistical analysis. LÄS MER

  4. 23. Genetic and functional analysis of the adaptive immune response

    Författare :Marco Mandolesi; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The cells of the adaptive immune system rely on somatic recombination of V, D and J genes to obtain a vast range of specificities. T cells use four chains encoded by three genomic loci, to produce alpha/beta or gamma/delta T cell receptors (TCRs). LÄS MER

  5. 24. Articles on Potential Theory, Functional Analysis and Hankel Forms

    Författare :Karl-Mikael Perfekt; Matematik (naturvetenskapliga fakulteten); []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Neumann-Poincare operator; layer potential; Lipschitz; spectrum; bidual; predual; distance; BMO; Hankel form; Carleson embedding; vector-valued.;

    Sammanfattning : Paper I: Perfekt, K.-M. and Putinar, M., Spectral bounds for the Neumann-Poincaré operator on planar domains with corners, to appear in J. LÄS MER

  7. 25. Genetic studies in rheumatoid arthritis : familial studies and analysis of relationships to atherothrombotic comorbidity

    Författare :Lisbeth Ärlestig; Solbritt Rantapää Dahlqvist; Dan Holmberg; Åsa Torinsson Naluai; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rheumatoid arthritis; genetics; familial studies; ACPA and cardiovascular co-morbidity; reumatologi; rheumatology; genetik; Genetics; cardiovascular disease; hjärt- och kärlforskning;

    Sammanfattning : Background. Rheumatoid arthritis (RA) is an autoimmune disease mainly affecting the joints but has also extra articular manifestations and an increased cardiovascular (CV) co-morbidity. Rheumatoid factor (RF) and antibodies against citrullinated proteins/peptides (ACPA) are diagnostically important and are related to a more severe disease. LÄS MER