Sökning: "repeat instability"

Visar resultat 1 - 5 av 7 avhandlingar innehållade orden repeat instability.

  1. 1. Development of benzoquinoquinoxaline derivatives as triplex-specific probes : Recognition of DNA structures at repeats sequences

    Författare :Helen Bergquist; Rula Zain; Keith Fox; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Triplex; H-DNA; BQQ; BQQ-OP; BQQ-Bodipy; triplet repeat; DNA; non-B-DNA; pkd1; frataxin; Friedreich s ataxia; Molecular biology; Molekylärbiologi; Molecular Biology; molekylärbiologi;

    Sammanfattning : Repeat sequences are associated with several human diseases, such as Friedreich’s ataxia, polycystic kidney disease and cancer. These sequences can form non-B-DNA structures, including triplex (H-DNA) DNA, and are associated with genomic instability and altered gene expression. LÄS MER

  3. 2. Hereditary Nonpolyposis Colorectal Cancer - Molecular Genetics and Biology of Associated Tumors

    Författare :Maria Planck; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; endometrial cancer; rectal cancer; colon cancer; mismatch repair protein expression; coding repeats; microsatellite instability; MSH6; MSH2; Hereditary nonpolyposis colorectal cancer; MLH1; small bowel cancer; Cytology; oncology; cancerology; Cytologi; onkologi; cancer;

    Sammanfattning : This thesis focuses on one of the most common types of hereditary cancer, hereditary nonpolyposis colorectal cancer (HNPCC). This syndrome is characterized by an autosomal dominant inheritance, an increased risk for several types of cancer (especially cancer of the colorectum, small bowel, endometrium, ovary and urinary tract), early age at diagnosis, and frequent development of multiple primary malignancies. LÄS MER

  4. 3. Trinucleotide repeats and neuropsychiatric phenotypes

    Författare :Qiu-Ping Yuan; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Trinucleotide; repeat expansion; psychiatric disorder; gene; spastic paraplegia;

    Sammanfattning : Genetic studies of affective disorders have yielded several chromosomal regions suggestive for linkage. Linkage analysis was performed in five families with unipolar affective disorder, collected from northern Sweden. Four candidate regions on chromosomes 16, 18, 21 and 4p were excluded. LÄS MER

  5. 4. Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders

    Författare :Kerstin Lindblad; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :affective disorder; CTG18.1; DNA; ERDA1; expanded trinucleotide repeats; gene isolation; mutation; Parkinson s disease; repeat expansion detection; repeat instability; spinocerebellar ataxia;

    Sammanfattning : In a number of neurological and neuropsychiatric disorders, a worsening of the disease phenotype from one generation to the next has been linked to expanded trinucleotide repeat sequences that increase in size upon transmission. The clinical phenomenon of an earlier age of onset or a more severe phenotype in later generations of a family has been termed anticipation. LÄS MER

  7. 5. Studies of polyglutamine repeats and their biology in relation to disease

    Författare :Cecilia Zander; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :trinucleotide repeat; polyglutamine; autosomal dominant spinocerebellar ataxia; repeat expansion detection; spastic paraplegia; autophagy; inclusions;

    Sammanfattning : Polyglutamine repeat expansions of the CAG/CTG type frequently lead to disease characterized by progressive neuronal dysfunction. These diseases typically begins in mid-life and result in severe neurodegeneration. To a certain extent they present with similar features and probably share a common mechanism of pathogenesis. LÄS MER