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  1. 1. Decoding the Structural Layer of Transcriptional Regulation : Computational Analyses of Chromatin and Chromosomal Aberrations

    Författare :Robin Andersson; Jan Komorowski; Jan Dumanski; Claes Wadelius; Anders Krogh; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Chromatin; Nucleosome positioning; Histone modifications; Chromosomal aberrations; Transcriptional regulation; Array-CGH; Next generation sequencing; ChIP-chip; Bioinformatics; Bioinformatik; Bioinformatics; Bioinformatik;

    Sammanfattning : Gene activity is regulated at two separate layers. Through structural and chemical properties of DNA – the primary layer of encoding – local signatures may enable, or disable, the binding of proteins or complexes of them with regulatory potential to the DNA. LÄS MER

  3. 2. Structural chromosomal aberrations and neuropsychiatric disorders

    Författare :Tonnie Johannesson; Göteborgs universitet; []
    Nyckelord :Autism spectrum disorders; chromosomes; FISH; balanced; translocations;

    Sammanfattning : Infantile autism (IA) is a severe neurodevelopment disorder with a complex genetic predisposition. The underlying causes of autism are still not understood. LÄS MER

  4. 3. Characterisation of chromosomal aberrations in childhood leukaemia

    Författare :Ann Nordgren; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Chromosome aberrations; SKY; interphase-FISH; Childhood ALL;

    Sammanfattning : Acute lymphoblastic leukaemia (ALL) is the most common malignancy in childhood, accounting for approximately 25% of all paediatric malignancies. Based on clinical risk criteria and modem laboratory investigations including immunophenotyping, cytogenetics, and molecular genetics, patients can be divided into prognostic groups and assigned to risk- adjusted treatment protocols. LÄS MER

  5. 4. Mechanisms and Consequences of Chromosomal Instability in Malignant tumours

    Författare :Ylva Stewénius; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; structural rearrangement; Ewing family tumour; Chromosomal instability; nephroblastoma; Wilms tumour; chromosomal aberration; anaphase bridge; subtelomeric FISH; breakage-fusion-bridge cycle;

    Sammanfattning : In this thesis, telomere deficiency with subsequent anaphase bridging was found to be associated with chromosomal instability in established colorectal cancer cell lines and in Wilms tumour. In colorectal cancer cell lines, anaphase bridging was observed to generate both numerical and structural chromosomal aberrations and was also associated with the presence of multipolar mitoses. LÄS MER

  7. 5. Mitotic aberrations in mammalian cells

    Författare :Anna Renglin Lindh; Thomas Helleday; Micheline Kirsch-Volders; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; aneuploidy; mitotic aberrations; chemical effects; human cancer; DNA repair; Genetics; Genetik;

    Sammanfattning : Almost all cancer cells are aneuploid showing the wrong chromosome number and often with structural aberrations. The degree of aneuploidy correlates with an increase of the severity of the disease and tumour cells with chromosomal instability are more prone to acquire resistance to chemotherapy than other cells. LÄS MER