Sökning: "Medical and Health Sciences Basic Medicine Medical Genetics"

Visar resultat 1 - 5 av 371 avhandlingar innehållade orden Medical and Health Sciences Basic Medicine Medical Genetics.

  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 :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  3. 2. 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 :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL 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

  4. 3. Bioinformatic and Biostatistic Analysis of Epigenetic Data from Humans and Mice in the Context of Obesity and its Complications

    Författare :Sarah Voisin; Helgi Schiöth; Claudine Junien; Romain Barres; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; obesity; genetics; epigenetics; DNA methylation; sleep; developmental origins of health and disease; single nucleotide polymorphism; genome-wide association study;

    Sammanfattning : Worldwide obesity has more than doubled since 1980 and at least 2.8 million people die each year as a result of being overweight or obese. An elevated body weight is the result of the interplay between susceptibility gene variants and an obesogenic environment, and recent evidence shows that epigenetic processes are likely involved. LÄS MER

  5. 4. 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 :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

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

    Författare :Maria Norberg; Richard Rosenquist; Anna Åleskog; Elin Lindhagen; Gerard Tobin; Per-Ola Andersson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic lymphocytic leukemia; in vitro drug sensitivity; apoptosis; prognostic markers; Clinical genetics; Klinisk genetik; Haematology; Hematologi; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; MEDICINE; MEDICIN; Medical genetics; 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