Search for dissertations about: "Nonsense"

Showing result 16 - 20 of 49 swedish dissertations containing the word Nonsense.

  2. 16. Molecular studies of multiple endocrine neoplasia type 1 (MEN1)

    Author : Shideh Khodaei-O'Brien; Karolinska Institutet; Karolinska Institutet; []
    Keywords : genetics; MEN1; cancer; tumor suppressor gene; cDNA selection; mutation; menin; ortholog; evolution; conservation; expression; RNA; protein; RT-PCR;

    Abstract : Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by tumors of the parathyroids, the endocrine pancreas and anterior pituitary. The MEN1 locus has been previously localized to chromosome 11q13 and subsequently a MEN1 minimum region was defined by a combination of linkage and tumor deletion studies. READ MORE

  4. 17. Molecular Studies of Diamond-Blackfan Anemia and Congenital Nail Dysplasia

    Author : Anne-Sophie Fröjmark; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diamond-Blackfan Anemia; RPS19; RPS24; PIM-1; Erythropoiesis; Cell cycle; Apoptosis; Nail dysplasia; FZD6; WNT signaling; Clinical genetics; Klinisk genetik;

    Abstract : The aim of this thesis is to investigate the effect of genetic mutations on the pathophysiology of two human disorders: Diamond-Blackfan Anemia (DBA) and isolated congenital nail dysplasia. The first part of this thesis (Paper I-III) investigates the mechanism associated with DBA. READ MORE

  5. 18. Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man

    Author : Stanislav L. Karsten; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mucopolysaccharidosis type II; Hunter syndrome; MPSII; iduronate-2-sulfatase; mutational analysis; homologous nonhomologous recombination; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. READ MORE

  6. 19. Translational accuracy, ribozyme efficiency and NAD metabolism in Escherichia coli

    Author : Martin Stancek; Leif Isaksson; Lars Hederstedt; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Escherichia coli; translational accuracy; nicotinate mononucleotide adenylyltransferase; Microbiology; Mikrobiologi;

    Abstract : Interactions between the translational machinery and mRNA in Escherichia coli have been studied. In the first section nonsense codon readthrough and changed translational reading frame were measured in different growth phases. READ MORE

  7. 20. Equine trait mapping : from disease loci to the discovery of a major gene controlling vertebrate locomotion

    Author : Lisa Andersson; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

    Abstract : Assigning function to genes is essential for a better understanding of biological systems. To date, approximately half of the genes in the vertebrate genome have known function. Domestic animals are a rich source for trait mapping and in this thesis we have mapped three distinct equine phenotypes. READ MORE