Search for dissertations about: "Klinisk genetik"

Showing result 16 - 20 of 432 swedish dissertations containing the words Klinisk genetik.

  2. 16. 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 : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  4. 17. 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 : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  5. 18. Bioinformatic screening for candidate mutations underlying phenotypic traits in domestic animals

    Author : Shumaila Sayyab; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Keywords : LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

    Abstract : Domestic animals represent excellent model organisms for gene mapping and identification of mutations underlying phenotypic traits. Humans have selected spontaneous mutations in farm and companion animals since they were domesticated and this has resulted in large phenotypic variation among different breeds. READ MORE

  6. 19. Copy Number Analysis of Cancer

    Author : Markus Mayrhofer; Anders Isaksson; Simon Tavaré; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chromosomes; oncology; bioinformatics; Bioinformatik; Bioinformatics; Oncology; Onkologi; Clinical Genetics; Klinisk genetik;

    Abstract : By accurately describing cancer genomes, we may link genomic mutations to phenotypic effects and eventually treat cancer patients based on the molecular cause of their disease, rather than generalizing treatment based on cell morphology or tissue of origin.Alteration of DNA copy number is a driving mutational process in the formation and progression of cancer. READ MORE

  7. 20. Suppressor of zeste 12, a Polycomb group gene in Drosophila melanogaster; one piece in the epigenetic puzzle

    Author : Anna Birve; Anssi Saura; Allen Shearn; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Drosophila melanogaster; epigenetic; homeotic genes; Polycomb group; PRE; heterochromatin; Suppressor of zeste 12; chromatin silencing; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

    Abstract : In multicellular organisms all cells in one individual have an identical genotype, and yet their bodies consist of many and very different tissues and thus many different cell types. Somehow there must be a difference in how genes are interpreted. So, there must be signals that tell the genes when and where to be active and inactive, respectively. READ MORE