Sökning: "mutations"

Visar resultat 1 - 5 av 1386 avhandlingar innehållade ordet mutations.

  1. 1. Experimental Evolution and Fitness Effects of Mutations

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Anna Knöppel; Uppsala universitet.; [2016]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Experimental evolution; Fitness effects; mutations; S20; fis; ribosome; horizontal gene transfer; adaptation; synonymous mutations; Mikrobiologi; Microbiology;

    Sammanfattning : Bacteria have small, streamlined genomes and evolve rapidly. Their large population sizes allow selection to be the main driver of evolution. With advances in sequencing technologies and precise methods for genetic engineering, many bacteria are excellent models for studying elementary questions in evolutionary biology. LÄS MER

  2. 2. Recurrent Genetic Mutations in Lymphoid Malignancies

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Emma Young; Uppsala universitet.; [2017]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Lymphoid malignancies; mutations; CLL; stereotypy; subsets; PMBL; NFKBIE; EGR2; whole-genome sequencing; Molekylär genetik; Molecular Genetics; Oncology; Onkologi;

    Sammanfattning : In recent years, the genetic landscape of B-cell derived lymphoid malignancies, including chronic lymphocytic leukemia (CLL), has been rapidly unraveled, identifying recurrent genetic mutations with potential clinical impact. Interestingly, ~30% of all CLL patients can be assigned to more homogeneous subsets based on the expression of a similar or “stereotyped” B-cell receptor (BcR). LÄS MER

  3. 3. Haemophilia in Sweden – Studies on mutations and clinical implications

    Detta är en avhandling från Department of Paediatrics, Lund University

    Författare :Annika Mårtensson; Lund University.; Lunds universitet.; [2015]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

    Sammanfattning : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. LÄS MER

  4. 4. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

    Detta är en avhandling från Department of Paediatrics, Lund University

    Författare :Anna Rohlin; Göteborgs universitet.; Gothenburg University.; [2015]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

    Sammanfattning : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. LÄS MER

  5. 5. From Tissue to Mutations Genetic Profiling of Colorectal Cancer

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Lucy Mathot; Uppsala universitet.; [2014]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Nucleic acid extraction; genotyping; targeted sequencing; mutation analysis; colorectal cancer; metastatic disease; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Comprehensive characterisation of the mutational landscapes of solid tumours is a multistep process involving the collection of suitable samples, the extraction of nucleic acids and the preparation of these materials for mutational analyses. In this thesis, I aimed to develop a streamlined process for the analysis of colorectal cancer (CRC) patient samples in order to identify novel mutations that hallmark the development of advanced disease. LÄS MER