Sökning: "loss of alleles"

Visar resultat 1 - 5 av 53 avhandlingar innehållade orden loss of alleles.

  1. 1. Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity

    Författare :Jorune Balciuniene; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; linkage analysis; hearing loss; digenic inheritance; allelic association; monoamine oxidase; human genetic diversity; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : This thesis focuses on the identification of genetic factors underlying two inherited human phenotypes: hearing loss and monoamine oxidase activity. Non-syndromic hearing loss segregating in a Swedish family was tested for linkage to 13 previously reported candidate loci for hearing disabilities. LÄS MER

  2. 2. Targeting allelic loss in colorectal cancer

    Författare :Verónica Rendo; Tobias Sjöblom; Nickolas Papadopoulos; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; gene editing; loss of heterozygosity; targeted therapy; whole genome sequencing;

    Sammanfattning : Targeted cancer therapy exploits molecular differences between tumor and normal cells to selectively kill cancer cells. Whereas targeting of activated oncogenes has proved clinically useful, few current therapies exploit loss-of-function mutations in tumor suppressor genes or in the genome at large. LÄS MER

  3. 3. Population History and Non-invasive Monitoring : Use of low copy number DNA in Conservation Genetics

    Författare :Øystein Flagstad; Ettore Randi; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; Biology; genetic tagging; immigration; loss of genetic variability; non-invasive molecular techniques; population decline; Swayne’s hartebeest; wolf; wolverine; Biologi; Biology; Biologi; ekologisk botanik; Ecological Botany;

    Sammanfattning : Conservation genetics research is increasingly becoming an integrated part of the management of small and endangered populations. In this thesis I developed tools for genetic analysis of low copy number sources of DNA, such as old teeth from museum specimens as well as field-collected faeces and urine. LÄS MER

  4. 4. Epigenetic Control of Mammalian Development : Studies on an imprinting control region

    Författare :Liang Liu; Pärt Peterson; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Epigenetic; Genomic imprinting; DNA methylation; Igf2; H19; Insulator; CTCF; Imprinting control region; Utvecklingsbiologi; Developmental biology; Utvecklingsbiologi; zoologisk utvecklingsbiologi; Animal Development;

    Sammanfattning : A subset of autosomal genes is preferentially or exclusively expressed from one of the parental alleles. This phenomenon, termed genomic imprinting, is highlighted by the neighboring Igf2 and H19 genes, which are monoallelically expressed on opposite parental chromosomes. These features are governed by a 2. LÄS MER

  5. 5. Regulators of Membrane Fluidity

    Författare :Kiran Busayavalasa; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; PAQR; LRIG; membrane fluidity;

    Sammanfattning : Caenorhabditis elegans PAQR-2 (a homolog of the mammalian AdipoR1 and AdipoR2 proteins) and IGLR-2 (homolog of the mammalian LRIG proteins) form a complex at the plasma membrane that regulates fatty acid desaturation to protect against saturated fatty acid-induced membrane rigidification. Maintenance of membrane homeostasis is fundamental for most cellular processes and, given its importance, robust regulatory mechanisms must exist that adjust lipid composition to compensate for dietary variation. LÄS MER