Sökning: "9q34"

Visar resultat 1 - 5 av 7 avhandlingar innehållade ordet 9q34.

  1. 1. Identification and characterization of nucleoside and nucleotide kinases : pharmacological activation of anti-cancer and anti-viral nucleoside analogs

    Författare :An R Van Rompay; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Cells require deoxyribonucleotides to synthesize DNA. Structurally modified precursors of deoxyribonucleotides, i.e. nucleoside analogs, are used as anti-viral and anti-cancer compounds. LÄS MER

  3. 2. Positional Cloning of Disease Causing Genes : A Genetic Study of Obesity, Ichthyosis Prematurity Syndrome and Meniere's Disease

    Författare :Joakim Klar; Niklas Dahl; Catharina Larsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Positional cloning; Obesity; Ichthyosis; Meniere’s disease; RORa; PIK3C2G; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Positional cloning is a method to identify genes from their position in the genome without prior knowledge about function. We used this approach to investigate the basis for three distinct genetic disorders; Obesity, Ichthyosis Prematurity Syndrome and Meniere's disease. LÄS MER

  4. 3. Identification of Candidate Genes in Four Human Disorders

    Författare :Malin Melin; Niklas Dahl; Anders Isaksson; Juha Kere; Uppsala universitet; []
    Nyckelord :Genetics; Ichthyosis; Leukodystrophy; Kostmann disease; Autism; Genetic disorders; Candidate gene; Genetik;

    Sammanfattning : The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease. LÄS MER

  5. 4. The Carboxyl Ester Lipase Gene. Organization, Evolution and Transcriptional Regulation in Exocrine Pancreas and Mammary Gland

    Författare :Ulf Lidberg; Chalmers tekniska högskola; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; NF-1; pseudogene; evolution; pancreas; carboxyl ester lipase; regulation; duplication; promoter; enhancer; locus; gene structure; mammary gland;

    Sammanfattning : The carboxyl ester lipase (CEL) is an important enzyme for the intestinal absorption of dietary lipids. In humans the gene is highly expressed in exocrine pancreas and in the lactating mammary gland. It is secreted in an inactive form and becomes activated by bile salts in the intestine. LÄS MER

  7. 5. Genetic studies of stroke in Northern Sweden

    Författare :Sofie Nilsson Ardnor; Dan Holmberg; Jan Hillert; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; stroke; linkage; genome wide scan; susceptibility loci; association; candidade gene; PDE4D; PIK3R1; extended pedigree; Medical genetics; Medicinsk genetik;

    Sammanfattning : Stroke is a common disorder of later life with a complex etiology, including both environmental and genetic risk factors. The inherited predisposition is challenging to study due to the complexity of the stroke phenotype. LÄS MER