Sökning: "Molekylär genetik"

Visar resultat 26 - 30 av 126 avhandlingar innehållade orden Molekylär genetik.

  1. 26. Microfluidic and Molecular Tools for Genetic Analyses

    Författare :Henrik Johansson; Mats Nilsson; Ivo Gut; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; microfluidics; PCR; sequencing; cancer genetics; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Methods that enable interrogation of multiple genomic regions in parallel are very useful for efficient detection of genetic variation. Two different types of probes are described in this thesis that can be used for direct analysis or for sample preparation upstream of Next Generation Sequencing. LÄS MER

  3. 27. Genetic and Genomic Analysis of DNA Sequence Variation

    Författare :Per Erik Lundmark; Ann-Christine Syvänen; Karl Michaelsson; Gert-Jan B. van Ommen; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP; NPC1; association study; allele specific expression; tagSNP; non-coding RNA; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. LÄS MER

  4. 28. Genetic Analyses of Multiple Sclerosis and Systemic Lupus Erythematosus : From Single Markers to Genome-Wide Data

    Författare :Johanna K Sandling; Ann-Christine Syvänen; Lovisa Lovmar; Joseph Terwilliger; Javier Martín Ibáñez; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic lupus erythematosus; Multiple Sclerosis; Association study; Type I interferon system; Single nucleotide polymorphism; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : In autoimmune diseases an individual’s immune system becomes targeted at the body’s own healthy cells. The aim of this thesis was to identify genetic risk factors for the two autoimmune diseases multiple sclerosis (MS) and systemic lupus erythematosus (SLE). LÄS MER

  5. 29. MOLECULAR PROFILING OF UROTHELIAL CARCINOMA

    Författare :David Lindgren; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cytogenetik; Urology; nephrology; Urologi; nefrologi; Clinical genetics; Klinisk genetik; cytogenetics; Genetics; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; TP53; FGFR3; gene expression profiling; microarray; bladder cancer; urothelial carcinoma; Genetik;

    Sammanfattning : The general aim of this thesis was to molecularly characterize urothelial carcinoma (UC) at the transcriptional level using gene expression microarrays to improve the classification and pathogenetic understanding of this disease. In the first two studies (Articles I and II), gene expression profiling was used to study dysregulated transcriptional networks in a large cohort of UCs. LÄS MER

  7. 30. Genetic Characterization of Chicken Models for Autoimmune Disease

    Författare :Anna-Stina Sahlqvist; Olov Ekwall; Olle Kämpe; Leif Andersson; Susanne Kerje; Holger Luthman; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Autoimmune disease; Hashimoto’s thyroiditis; systemic sclerosis; comparative genomics; linkage analysis; OS chickens; spontaneous autoimmune thyroiditis; UCD-200 chickens.; Molekylär medicin; Molecular Medicine;

    Sammanfattning : Autoimmune diseases are endemic, but the disease mechanisms are poorly understood. A way to better understand these are to find disease-regulating genes. However, this is difficult as the diseases are complex, with several genes as well as environmental factors influencing the development of disease. LÄS MER