Search for dissertations about: "clinical genetics"

Showing result 1 - 5 of 488 swedish dissertations containing the words clinical genetics.

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

Author : Mohamed Arifin Bin Kaderi; Richard Rosenquist Rosenquist; Mahmoud Mansouri; Mattias Jansson; Denis Alexander; Uppsala universitet; []
Keywords : 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;

Abstract : 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. READ MORE
2. In Vitro Drug Sensitivity and Apoptosis in Chronic Lymphocytic Leukemia

Author : Maria Norberg; Richard Rosenquist; Anna Åleskog; Elin Lindhagen; Gerard Tobin; Per-Ola Andersson; Uppsala universitet; []
Keywords : 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; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 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;

Abstract : 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. READ MORE
3. Molecular Genetic Analysis in B-cell Lymphomas : A Focus on the p53 Pathway and p16INK4a

Author : Norafiza Zainuddin; Gunilla Enblad; Richard Rosenquist; Mattias Berglund; Kirsten Gronbaek; Uppsala universitet; []
Keywords : 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; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; Diffuse large B-cell lymphoma; chronic lymphocytic leukemia; TP53 mutation; MDM2 SNP309; codon 72 polymorphism; p16INK4a methylation; Clinical genetics; Klinisk genetik; Molecular biology; Molekylärbiologi; Haematology; Hematologi; Tumour biology; Tumörbiologi; Clinical Genetics; Klinisk genetik; Medical Genetics; Medicinsk genetik; Molekylär genetik; Molecular Genetics; Oncology; Onkologi; Pathology; Patologi;

Abstract : The presence of TP53 mutations has been associated with inferior outcome in diffuse large B-cell lymphoma (DLBCL) and chronic lymphocytic leukemia (CLL). In DLBCL, the impact of the TP53 codon 72 polymorphism and MDM2 SNP309 has not been clearly elucidated, whereas MDM2 SNP309 was suggested as a poor-prognostic marker in CLL. READ MORE
4. Molecular Genetic and DNA Methylation Profiling of Chronic Lymphocytic Leukaemia : A Focus on Divergent Prognostic Subgroups and Subsets

Author : Nicola Cahill; Richard Rosenquist; Larry Mansouri; Fergus Ryan; Denis Alexander; Uppsala universitet; []
Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; DNA methylation; Chronic lymphocytic leukemia; SNP; array; IGHV3-21; IGHV4-34; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi; Genetics; Genetik; Medical Genetics; Medicinsk genetik; Molecular Biology; Molekylärbiologi; Molekylär genetik; Molecular Genetics; Oncology; Onkologi;

Abstract : Advancements in prognostication have improved the subdivision of chronic lymphocytic leukaemia (CLL) into diverse prognostic subgroups. In CLL, IGHV unmutated and IGHV3-21 genes are associated with a poor-prognosis, conversely, IGHV mutated genes with a favourable outcome. READ MORE
5. The Epigenome of Multiple Myeloma : From genome-wide analysis to pharmacological manipulation

Author : Alba Atienza Párraga; Helena Jernberg-Wiklund; Fredrik Öberg; Antonia Kalushkova; Miguel Angel Peinado; Uppsala universitet; []
Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; MEDICAL AND HEALTH SCIENCES; Multiple myeloma; epigenetics; Polycomb; EZH2; miRNA; DNA methylation; inhibitor.; Experimentell patologi; Experimental Pathology;

Abstract : Nowadays epigenetic dysregulation is known to play a crucial role in virtually all cancers. In multiple myeloma (MM), an extensively heterogeneous malignancy, the key common feature among patients is the gene silencing imposed by the PRC2 complex through the addition of H3K27me3. READ MORE

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