Search for dissertations about: "Medicin och hälsovetenskap Medicinska grundvetenskaper Medicinsk genetik"

Showing result 6 - 10 of 312 swedish dissertations containing the words Medicin och hälsovetenskap Medicinska grundvetenskaper Medicinsk genetik.

  2. 6. Genetic and Epigenetic Profiling of Mantle Cell Lymphoma and Chronic Lymphocytic Leukemia

    Author : Anna Margrét Halldórsdóttir; Richard Rosenquist; Reiner Siebert; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mantle cell lymphoma; chronic lymphocytic leukemia; copy number aberration; proliferation signature; TP53; SNP array; methylation array; Haematology; Hematologi; Clinical genetics; Klinisk genetik; Molecular biology; Molekylärbiologi; Tumour biology; Tumörbiologi; Medicinsk genetik; Medical Genetics; Oncology; Onkologi; Molekylär medicin; Molecular Medicine; Patologi; Pathology;

    Abstract : Mantle cell lymphoma (MCL) and chronic lymphocytic leukemia (CLL) both belong to the group of mature B-cell malignancies. However, MCL is typically clinically aggressive while the clinical course of CLL varies. READ MORE

  4. 7. Genetic Cartography at Massively Parallel Scale

    Author : Johan Dahlberg; Ann-Christine Syvänen; Adam Ameur; Michael C. Zody; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; NATURVETENSKAP; NATURAL SCIENCES; Acute Lymphoblastic Leukemia ALL ; RNA-Sequencing; Bioinformatics; Pooling; Whole Genome Sequencing; Medicinsk genetik; Medical Genetics; Bioinformatics; Bioinformatik;

    Abstract : Massively parallel sequencing (MPS) is revolutionizing genomics. In this work we use, refine, and develop new tools for the discipline.MPS has led to the discovery of multiple novel subtypes in Acute Lymphoblastic Leukemia (ALL). In Study I we screen for fusion genes in 134 pediatric ALL patients, including patients without an assigned subtype. READ MORE

  5. 8. Lipoproteomics : Environmental and Genetic Factors Affecting High-Density Lipoprotein (HDL)

    Author : Stefan Ljunggren; Mats Lindahl; Gun Wingren; Helen Karlsson; Jan Albert Kuivenhoven; Björn Dahlbäck; Linköpings universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Lipoprotein particles act as lipid transporters in the blood stream, and measuring cholesterol content in specific subclasses of lipoprotein particles has long been, and still is, a frequently used tool to estimate the risk of cardiovascular disease (CVD). High-density lipoprotein (HDL) is a subclass of lipoproteins often regarded as providing protection against CVD via several functions including reverse cholesterol transport and anti-inflammatory capacities. READ MORE

  6. 9. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Author : Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

    Abstract : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. READ MORE

  7. 10. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes

    Author : Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Abstract : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. READ MORE