Search for dissertations about: "subtelomeric regions"

Showing result 1 - 5 of 7 swedish dissertations containing the words subtelomeric regions.

  2. 1. Genomic and transcripto variation in blood stage Plasmodium falciparum

    Author : Bobo Mok; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Antigenic variation; comparative genomic hybridization CGH ; copy number polymorphism CNP ; microarray; P. falciparum; PfEMP1; subtelomeric regions; segmental duplication; switching; var;

    Abstract : Malaria research has entered a postgenomic era since October 2002, when the complete genomic sequence of Plasmodium falciparum strain 3D7 was published. A massive amount of information generated by the P. falciparum genome project has facilitated the development of many novel platforms for profiling different levels of biological aspects. READ MORE

  4. 2. Gene dose imbalances in children with mental retardation

    Author : Jacqueline Schoumans; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Mental retardation; MCA MR syndromes; cromosome abnormalities; subtelomeric FISH; comparative genomichybridization; array-CGH;

    Abstract : Submicroscopic chromosome aberrations can cause mental retardation (MR), congenital malformations and miscarriage. It is difficult to estimate the contribution of cytogenetic abnormalities to MR because of relatively low detection sensitivity of conventional cytogenetic methods used in the diagnostic setting. READ MORE

  5. 3. Cryptic chromosome abnormalities in idiopathic mental retardation

    Author : Britt-Marie Anderlid; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Mental retardation is a common disorder, affecting 1-3% of the population. In spite of improved diagnostic tools, the etiology can still not be established in half of the cases. Several lines of evidence indicate a genetic origin in a significant number of individuals with idiopathic mental retardation. READ MORE

  6. 4. Interplay of chromatin remodeling, transcriptional regulation, and nuclear organization

    Author : Babett Steglich; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Transcription is regulated on different levels to ensure that genes are expressed at the correct time and in the amounts required. At the chromatin level, DNA is wound onto histone proteins, forming nucleosomes that influence accessibility of DNA elements. READ MORE

  7. 5. Characterization of Gcn5 histone acetyltransferase in Schizosaccharomyces pombe

    Author : Anna Johnsson; Anthony Wright; Mattias Mannervik; Södertörns högskola; Karolinska Institutet; Karolinska Institutet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES;

    Abstract : The organisation of eukaryotic DNA into chromatin provides a natural barrier that prevents full access to the DNA thereby inhibiting events such as transcription, replication and repair. In order for these DNA-related events to occur, the chromatin needs to be modified by chromatin remodelling or, by reversible post-translational modifications. READ MORE