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Showing result 1 - 5 of 7 swedish dissertations matching the above criteria.

  2. 1. 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

  4. 2. Genomic rearrangements at the cause of three genetic disorders in man

    Author : Kristina Lagerstedt; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mucopolysaccharidosis type II MPS II ; The Hunter syndrome; Incontinentia pigmenti IP ; Blepharophimosis; ptosis; epicanthus inversus syndrome BPES ; mutational analysis; nonhomologous end joining NHEJ ; homologous recombination HR ; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. READ MORE

  5. 3. Silencing and DNA double-strand break repair in budding yeast

    Author : Andreas Kegel; Stefan Åström; Stephan Marcand; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Silencing; Reb1; DSB; NHEJ; Nej1; illegitimate recombination; yeast; Developmental biology; Utvecklingsbiologi;

    Abstract : Transcriptional silencing that makes large chromosomal domains inaccessible for the transcriptional apparatus is nucleated at DNA elements called silencers. In K.lactis a 102bp HMLα silencer was defined revealing three distinct protein-binding regions (A, B, and C) that were required for silencing of HMLα. READ MORE

  6. 4. DNA double-strand break repair in ascomycetes

    Author : Jiang Chen; Stefan Åström; Michael Lisby; Stockholms universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; utvecklingsbiologi; Developmental Biology;

    Abstract : Nonhomologous end joining (NHEJ) and homologous recombination (HR) are two pathways for DNA double strand break (DSB) repair. We found that the NHEJ protein Nej1 interacted physically with the HR protein Srs2, which was dependent on phosphorylation of Nej1 by Dun1. Srs2 recruitment to a DSB partly relied on Nej1 and Dun1. READ MORE

  7. 5. Characterization of chromatin mobility upon DNA damage in Arabidopsis thaliana

    Author : Anis Meschichi; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Keywords : LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

    Abstract : Plant cells are subject to high levels of DNA damage from dependence on sunlight for energy and the associated exposure to biotic and abiotic stresses. Double-strand breaks (DSBs) are a particularly deleterious type of DNA damage, potentially leading to chromosome rearrangements or loss of entire chromosome arms. READ MORE