Sökning: "Medical Genetics"

Visar resultat 6 - 10 av 974 avhandlingar innehållade orden Medical Genetics.

  1. 6. Human leukocyte antigen in sickness and in health Ankylosing spondylitis and HLA in Sweden

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Jessika Nordin; Uppsala universitet.; [2019]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL 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

  2. 7. In Vitro Drug Sensitivity and Apoptosis in Chronic Lymphocytic Leukemia

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Maria Norberg; Uppsala universitet.; [2010]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; in vitro drug sensitivity; apoptosis; prognostic markers; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Haematology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Hematologi; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Molecular medicine genetics and pathology ; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Molekylär medicin genetik och patologi ; MEDICINE; MEDICIN; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics Medical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik Medicinsk genetik; Medical Science; Medicinsk vetenskap; Clinical Genetics; Klinisk genetik; Molekylär genetik; Molecular Genetics; Medical Genetics; Medicinsk genetik; Molekylär medicin; Molecular Medicine;

    Sammanfattning : Chronic lymphocytic leukemia (CLL) is a heterogeneous malignancy displaying varying clinical outcome, where molecular markers today can divide patients into prognostic subgroups. Despite the introduction of new agents for treatment, remissions are usually not sustained in CLL and resistance towards treatment can partly be explained by aberrant apoptosis. LÄS MER

  3. 8. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Doroteya Raykova; Uppsala universitet.; [2015]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER

  4. 9. The genetics of systemic lupus erythematosus : Mapping of susceptibility loci for human SLE

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Anna-Karin B. Lindqvist; Uppsala universitet.; [1999]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Systemic lupus erythematosus; complex diseases; genetic susceptibility; linkage analysis; genome scan; candidate gene; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a systemic autoimmune disease affecting organs such as skin, jointsand kidneys. Characteristic for the disease is increased production of autoantibodies, in particular against dsDNA. Previous studies of SLE in mouse models and in humans indicate polygenic inheritance and genetic heterogeneity. LÄS MER

  5. 10. Type 2 Diabetes Genes Contributing to Insulin Secretion Defects

    Detta är en avhandling från Department of Clinical Sciences, Lund University

    Författare :Charlotte Granhall; Lund University.; Lunds universitet.; [2007]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; sekretion; Endokrinologi; exocytosis; GK rat; NIDDM1I; genetics; gene expression; quantitative trait analysis; Sorcs1; Adra2a; Endocrinology; diabetology; insulin secretion; diabetologi; secreting systems; Type 2 diabetes;

    Sammanfattning : Type 2 diabetes is caused by a combination of environmental and inherited factors influencing the progression of insulin resistance and impaired insulin secretion leading to chronically elevated blood glucose levels. The aim of this thesis was to functionally and genetically characterise the species-conserved diabetes locus Niddm1i of the GK rat encoding hyperglycaemia and defect insulin secretion. LÄS MER