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Visar resultat 1 - 5 av 126 avhandlingar som matchar ovanstående sökkriterier.

  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. Jack of all trades, master of none : the multifaceted nature of H3K36 methylation

    Författare :Henrik Lindehell; Jan Larsson; Anders Byström; Peter B. Becker; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; H3K36; histone methylation; dosage compensation; chromosome-specific gene regulation; transposable elements; PIWI piRNA biosynthesis; Set2; Ash1; NSD; Histone 3.3; post-translational modifications; histone modifications; epigenetics; proximity ligation assay; Drosophila; Genetics; genetik; molekylärbiologi; Molecular Biology; Biopharmaceutics; biofarmaci;

    Sammanfattning : Post-translational modifications of histones enable differential transcriptional control of the genome between cell types and developmental stages, and in response to environmental factors. The methylation of Histone 3 Lysine 36 (H3K36) is one the most complex and well-studied histone modifications and is known to be involved in a wide range of molecular processes. LÄS MER

  4. 3. 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

  5. 4. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders

    Författare :Sethu Madhava Rao Gunja; Anders Virtanen; Jonas von Hofsten; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; PARN; Telomere biology disorders; snoRNAs; scaRNAs; TR TERC; Zebrafish; Biology with specialization in Molecular Cell Biology; Biologi med inriktning mot molekylär cellbiologi; Molekylär genetik; Molecular Genetics; Molekylär cellbiologi; Molecular Cellbiology;

    Sammanfattning : Poly(A)-specific ribonuclease (PARN) is a eukaryotic 3’-5’exoribonuclease that removes poly(A) tails of many coding and non-coding RNAs. In this thesis, we have studied the physiological role of PARN. LÄS MER

  7. 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 :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