Search for dissertations about: "homologous nonhomologous recombination"

Showing result 1 - 5 of 6 swedish dissertations containing the words homologous nonhomologous recombination.

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Stanislav L. Karsten; Uppsala universitet.; [2000]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mucopolysaccharidosis type II; Hunter syndrome; MPSII; iduronate-2-sulfatase; mutational analysis; homologous nonhomologous recombination; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin 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

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Kristina Lagerstedt; Uppsala universitet.; [2001]
    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; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin 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

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

    University dissertation from Stockholm : Wenner-Grens institut för experimentell biologi

    Author : Andreas Kegel; Stockholms universitet.; [2006]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Silencing; Reb1; DSB; NHEJ; Nej1; illegitimate recombination; yeast; NATURAL SCIENCES Biology Organism biology Developmental biology; NATURVETENSKAP Biologi Organismbiologi 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

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

    University dissertation from Stockholm : The Wenner-Gren Institute, Stockholm University

    Author : Jiang Chen; Stockholms universitet.; [2012]
    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

  5. 5. Maintenance of genome integrity via activities of the cohesin network

    University dissertation from Stockholm : Karolinska Institutet, Dept of Cell and Molecular Biology

    Author : Emma Lindgren; Karolinska Institutet.; Karolinska Institutet.; [2014]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Correct segregation of sister chromatids is an important mechanism for keeping the genome intact. The cohesin complex holds the sister chromatids together from the time of their formation during replication, until separation at anaphase and is thereby mediating cohesion between the sister chromatids, essential for correct chromatid segregation. READ MORE