Sökning: "Medical Genetics"

Visar resultat 11 - 15 av 657 avhandlingar innehållade orden Medical Genetics.

  1. 11. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling

    Författare :Doroteya Raykova; Niklas Dahl; Ann Nordgren; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Disease modeling; Mendelian disorders; iPSC; Whole exome sequencing; Transcriptome sequencing; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER

  3. 12. Genetics of pain : studies of migraine and pain insensitivity

    Författare :Anna Norberg; Monica Holmberg; Arn van den Maagdenberg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Migraine; pain insensitivity; susceptibility genes; genome-wide scan; linkage; polymorphism; association; HSAN V; nerve growth factor; neurite outgrowth; Medical genetics; Medicinsk genetik;

    Sammanfattning : Pain is a major public health issue throughout the world. Increased understanding of the different forms of pain and identification of susceptibility genes could contribute to improved treatments. LÄS MER

  4. 13. 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

  5. 14. Genetic and epidemiological studies of hereditary colorectal cancer

    Författare :Kristina Cederquist; Henrik Grönberg; Irina Golovleva; Gösta Holmgren; Mef Nilbert; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Lynch syndrome; HNPCC; colorectal cancer; endometrial cancer; cancer risk; MSI; MLH1; MSH2; MSH6; genome-wide scan; Genetik; Clinical genetics; Klinisk genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC) is the most common hereditary syndrome predisposing to colorectal cancer, accounting for 1-3% of all colorectal cancer. This multi-organ cancer predisposition syndrome is caused by mutations in the mismatch repair (MMR) genes, especially MLH1 and MSH2, and to lesser extents MSH6 and PMS2, which lead to widespread genetic instability and thus microsatellite instability (MSI). LÄS MER

  7. 15. 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