Sökning: "Molekylär medicin genetik och patologi"

Visar resultat 11 - 15 av 52 avhandlingar innehållade orden Molekylär medicin genetik och patologi.

1. 11. Quantitative analysis of disease associated mutations and sequence variants

   Författare :Charlotta Olsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; Clinical genetics; Klinisk genetik; Molecular Medicine; molekylär medicin genetik och patologi ;

   Sammanfattning : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. LÄS MER

3. 12. 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. 13. 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. 14. Molecular Regulation of Inflammation and Angiogenesis in the Tumor Microenvironment

   Författare :Lothar Dieterich; Anna Dimberg; Lena Claesson-Welsh; Jonas Fuxe; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; stroma; glioma; alphaB-crystallin; HSPB5; cryab; myeloid cells; Morphology; cell biology; pathology; Morfologi; cellbiologi; patologi; Cell and molecular biology; Cell- och molekylärbiologi; Molekylär medicin; Molecular Medicine;

   Sammanfattning : Tumor growth and progression not only depend on properties of the malignant cells but are strongly influenced by the tumor microenvironment. The tumor stroma consists of various cell types such as inflammatory cells, endothelial cells and fibroblasts, which can either inhibit or promote tumor growth. LÄS MER

7. 15. 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