Sökning: "Genetik"

Visar resultat 1 - 5 av 970 avhandlingar innehållade ordet Genetik.

  1. 1. Assessment of Novel Molecular Prognostic Markers in Chronic Lymphocytic Leukemia

    Författare :Mohamed Arifin Bin Kaderi; Richard Rosenquist Rosenquist; Mahmoud Mansouri; Mattias Jansson; Denis Alexander; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; 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; MEDICIN OCH HÄLSOVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; prognostic markers; single nucleotide polymorphisms; RNA-based markers; Medical genetics; Medicinsk genetik; Genetics; Genetik; Clinical genetics; Klinisk genetik; Medical laboratory science; Medicinsk laboratorievetenskap; Oncology; Onkologi; Haematology; Hematologi; Clinical Genetics; Klinisk genetik; Molekylär medicin; Molecular Medicine; Oncology; Onkologi; Medicin; Medicine; Medical Genetics; Medicinsk genetik;

    Sammanfattning : The clinical course of chronic lymphocytic leukemia (CLL) is highly heterogeneous, which has prompted the search for biomarkers that can predict prognosis in this disease. The IGHV gene mutation status and certain genomic aberrations have been identified as reliable prognostic markers of clinical outcome for this disorder. LÄS MER

  2. 2. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

    Författare :Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER

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

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

    Sammanfattning : 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. LÄS MER

  4. 4. Application of Genomic and Expression Arrays for Identification of new Cancer Genes

    Författare :Helena Nord; Teresita Díaz de Ståhl; Jan Dumanski; Susan Pfeifer; Blomquist Erik; Segersten Ulrika; David Gisselsson Nord; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Array-CGH; Expression array; Copy number variation; Glioblastoma; Medulloblastoma; Bladder carcinoma; Oncogenes; Tumor suppressor genes; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical genetics; Medicinsk genetik; Tumour biology; Tumörbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Copy number variation (CNV) comprises a recently discovered kind of variation involving deletion and duplication of DNA segments of variable size, ranging from a few hundred basepairs to several million. By altering gene dosage levels or disrupting proximal or distant regulatory elements CNVs create human diversity. LÄS MER

  5. 5. Human leukocyte antigen in sickness and in health : Ankylosing spondylitis and HLA in Sweden

    Författare :Jessika Nordin; Kerstin Lindblad-Toh; Jennifer Meadows; Matthew Webster; Alison Meynert; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Disease genetics; Ankylosing spondylitis; HLA typing; Imputation; Inference; Sex-stratified; HLA-B*27 independent; Association tests; Functional validation; Bioinformatics; Bioinformatik; Molekylär genetik; Molecular Genetics;

    Sammanfattning : The human leukocyte antigen (HLA) plays a major role in keeping us healthy, but some of the HLA alleles can contribute to disease susceptibility. One example is HLA-B*27, which confers increased susceptibility of ankylosing spondylitis and represents one of the strongest genetic associations found in any common human disease. LÄS MER