Sökning: "Medicinsk genetik"

Visar resultat 16 - 20 av 397 avhandlingar innehållade orden Medicinsk genetik.

  1. 16. Mapping genetic diseases in northern Sweden

    Författare :Elisabet Einarsdottir; Dan Holmberg; Gösta Holmgren; Ulf Gyllensten; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; isolated populations; linkage disequilibrium; linkage analysis; genome-wide scan; hereditary sensory and autonomic neuropathy; type 1 diabetes mellitus; type 2 diabetes mellitus; autoimmune thyroid disease; Genetik; Clinical genetics; Klinisk genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : The population of northern Sweden has previously been shown to be well suited for the mapping of monogenic diseases. In this thesis we have tested the hypothesis that this population could also be used for efficient identification of risk genes for common diseases. LÄS MER

  3. 17. PARN - A Tale of A de-Tailor : Functional importance of poly(A) degradation in developmental and telomere biology disorders

    Författare :Sethu Madhava Rao Gunja; Anders Virtanen; Jonas von Hofsten; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; PARN; Telomere biology disorders; snoRNAs; scaRNAs; TR TERC; Zebrafish; Biology with specialization in Molecular Cell Biology; Biologi med inriktning mot molekylär cellbiologi; Molekylär genetik; Molecular Genetics; Molekylär cellbiologi; Molecular Cellbiology;

    Sammanfattning : Poly(A)-specific ribonuclease (PARN) is a eukaryotic 3’-5’exoribonuclease that removes poly(A) tails of many coding and non-coding RNAs. In this thesis, we have studied the physiological role of PARN. LÄS MER

  4. 18. Microfluidic and Molecular Tools for Genetic Analyses

    Författare :Henrik Johansson; Mats Nilsson; Ivo Gut; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; microfluidics; PCR; sequencing; cancer genetics; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Methods that enable interrogation of multiple genomic regions in parallel are very useful for efficient detection of genetic variation. Two different types of probes are described in this thesis that can be used for direct analysis or for sample preparation upstream of Next Generation Sequencing. LÄS MER

  5. 19. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Författare :Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

    Sammanfattning : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. LÄS MER

  7. 20. Growth control mechanisms in normal and neoplastic mammalian cells

    Författare :Mozhgan Afrakhte; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; PDGF-AA; TGF-beta; Inhibitory SMADs; Growth inhibition; CDK; CKI; Cdc25A; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

    Sammanfattning : The main theme of the studies presented in this thesis is, the growth control mechanisms whose loss in normal cells predispose to or cause cancer. The balance between growth inhibitory and stimulatory mechanisms is crucial for the development and maintenance of a normal animal. LÄS MER