Sökning: "DELETIONS"

Visar resultat 1 - 5 av 226 avhandlingar innehållade ordet DELETIONS.

1. 1. On 13q14 deletions in chronic lymphocytic leukemia

   Författare :Mikael Lerner; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Malignant tumors arise as a consequence of a multistep process where an accumulation of genetic and epigenetic changes drives the transformation of normal cells into tumor cells. The identification and characterization of genes targeted by these alterations is of crucial importance for an increased understanding of the biology of cancer. LÄS MER

3. 2. Detecting Deletions by Analysis of Genetic Markers in Pedigrees

   Författare :Anna Johansson; Biologiska institutionen; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; cytogenetics; Genetik; Genetics; Biologi; genetic marker; pedigree; Protein S deficiency; Biology; PROS1; deletion; null allele; cytogenetik;

   Sammanfattning : A deletion is defined as a missing piece of a chromosome, ranging in size from as small as a single base pair to as much as an entire arm of a chromosome. Deletions can cause diseases, but may also have a neutral effect in the genome. LÄS MER

4. 3. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity

   Författare :Gittan Kollberg; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Energy metabolism; Mitochondrial Disorders; mtDNA; multiple mtDNA deletions; Alpers-Huttenlocher syndrome; POLG1; GYS1; glycogen synthase; point mutation; Polymerase gamma;

   Sammanfattning : Impairment of energy metabolism may be associated with severe implications for affected individuals since all fundamental cell functions are energy-dependent. Disorders of energy metabolism are often genetic and associated with defects in the oxidative phosphorylation in mitochondria. LÄS MER

5. 4. Genetic analysis of neurofibromatosis type 2 (NF2) patients and NF2-associated tumors with emphasis on chromosome 22 deletions

   Författare :Carl E G Bruder; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Neurofibromatosis type 2 (NF2) is an autosomal dominant disease with the hallmark of bilateral vestibular schwannomas. NF2 patients may also develop schwannomas at other locations as well as meningiomas, neurofibromas and ependymomas. NF2 shows a distinct clinical variability ranging from very mild to severe forms. LÄS MER

7. 5. Dynamics of the Bacterial Genome : Rates and Mechanisms of Mutation

   Författare :Sanna Koskiniemi; Dan Andersson; Diarmaid Hughes; Ivan Matic; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; bacteria; bacterial evolution; genome reduction; gene loss; serial passage; DNA homology; tranlesion DNA polymerase; stress; Microbiology; Mikrobiologi; Bacteriology; Bakteriologi; Evolutionary Genetics; Evolutionär genetik; Mikrobiologi; Microbiology;

   Sammanfattning : Bacterial chromosomes are highly dynamic, continuously changing with respect to gene content and size via a number of processes, including deletions that result in gene loss. How deletions form and at what rates has been the focus of this thesis. In paper II we investigated how chromosomal location affects chromosomal deletion rates in S. LÄS MER