Search for dissertations about: "mutations"

Showing result 6 - 10 of 1635 swedish dissertations containing the word mutations.

  2. 6. The effects of deleterious mutations on ageing

    Author : Martin Iinatti Brengdahl; Urban Friberg; Dominic Wright; Thomas Flatt; Linköpings universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Ageing; Age-specific effects; Deleterious mutations; Drosophila melanogaster; Lifespan; Sex differences;

    Abstract : Ageing is defined as the deterioration of an individual's physiological performance with advancing age, which leads to a decrease in reproduction and/or survival. The question why most organisms age has preoccupied humans for millennia and, over the last decades, resulted in an ever-increasing research effort to understand this phenomenon. READ MORE

  4. 7. Prognostic and Predictive Somatic Mutations in Colorectal Cancer

    Author : Luís Nunes; Tobias Sjöblom; Bengt Glimelius; Snehangshu Kundu; Ivaylo Stoimenov; Laura DeLong Wood; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; somatic mutations; next-generation sequencing; whole-genome sequencing; transcriptomics; targeted therapy; prognosis; Medicinsk vetenskap; Medical Science;

    Abstract : Colorectal cancer (CRC) is the third most incident and the second deadliest cancer worldwide. Even though CRC incidence is strongly correlated with age, it has been increasing in developing countries and younger individuals. READ MORE

  5. 8. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

    Author : Anna Erlandson; Göteborgs universitet; []
    Keywords : CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Abstract : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. READ MORE

  6. 9. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    Author : Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

    Abstract : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. READ MORE

  7. 10. Pan-cancer study of transcriptional responses to oncogenic somatic mutations

    Author : Arghavan Ashouri; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; Driver mutations; Genomics; Transcriptomics; lncRNAs; NRF2; ALK;

    Abstract : Cancer cells typically carry acquired somatic mutations in key cancer driver genes, which can be identified on the basis of recurrence in cancer cohorts. Such mutations may cause aberrant protein activity and altered gene expression in the nucleus, driving the cell toward a cancerous phenotype. READ MORE