Sökning: "single-nucleotide polymorphisms"

Visar resultat 21 - 25 av 219 avhandlingar innehållade orden single-nucleotide polymorphisms.

  1. 21. Genetic studies on cardiovascular disease - identification of novel drug targets

    Författare :Stefan Amisten; Kardiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Medicin människa och djur ; Medicine human and vertebrates ; platelet; single nucleotide polymorphism; myocardial infarction; stent; G-protein coupled receptor; P2Y; cytogenetics; Genetik; cytogenetik; Cardiovascular system; Kardiovaskulära systemet;

    Sammanfattning : The aim of this thesis was to identify novel potential drug targets of cardiovascular disease with a focus on G-protein coupled receptors. We identified a common genetic variant of the ATP receptor P2Y11, where an alanine is substituted with a threonine at position 87 of the P2Y11 receptor that increases the risk of developing acute myocardial infarction. LÄS MER

  3. 22. Parallel target selection by trinucleotide threading

    Författare :Pawel Zajac; Joakim Lundeberg; Afshin Ahmadian; Mats Nilsson; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; trinucleotide threading; multiplex amplification; expression profiling; microarray; generic tag; short tandem repeat; microsatellite; electrophoresis; single nucleotide polymorphism; allelotyping; 454; Pyrosequencing; Genetic engineering including functional genomics; Genteknik inkl. funktionsgenomik;

    Sammanfattning : DNA is the code for all life. Via intermediary RNA the information encoded by the genome is relayed to proteins executing the various functions in a cell. Together, this repertoire of inherently linked biological macromolecules determines all characteristics and features of a cell. LÄS MER

  4. 23. Eosinophil Cationic Protein : Expression Levels and Polymorphisms

    Författare :Jonas Byström; Helene Rosenberg; Uppsala universitet; []
    Nyckelord :Medical sciences; Eosinophils; Neutrophils; Monocytes; Macrophages; mRNA; eosinophil cationic protein; DNA; polymorphism; Hodgkin Lymphoma; asthma; allergy; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Clinical Chemistry; klinisk kemi;

    Sammanfattning : The eosinophil cationic protein (ECP) is usually associated with the eosinophil granulocyte. In this thesis the presence and production of this protein has been studied in two other cells. The circulating monocyte was found to contain ECP mRNA and small amounts of ECP, one thousand times less than that found in the eosinophil. LÄS MER

  5. 24. Computational and experimental approaches to regulatory genetic variation

    Författare :Malin Andersen; Jacob Odeberg; John Peden; KTH; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Molecular biology; Genetics; single nucleotide polymprhism SNP ; regulatory SNP; transcription factor binding site; phylogenetic footprinting; allelic imbalance; EMSA; CD36; cardiovascular disease.; Genetic engineering including functional genomics; Genteknik inkl. funktionsgenomik;

    Sammanfattning : Genetic variation is a strong risk factor for many human diseases, including diabetes, cancer, cardiovascular disease, depression, autoimmunity and asthma. Most of the disease genes identified so far alter the amino acid sequences of encoded proteins. LÄS MER

  7. 25. On the Role of Osteoprotegerin/RANK/RANKL System in the Interaction between Prostate Cancer and Bone

    Författare :Hendrik Penno; Östen Ljunggren; Olof Nilsson; Andreas Kindmark; Pernilla Lundberg; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; metastases; bone; prostate cancer; osteoprotegerin; RANKL; osteoporosis; genetics; polymorphisms; Orthopaedics; Ortopedi;

    Sammanfattning : Metastases to bone are observed in around 80% of prostate cancer patients and represent the most critical complication of advanced prostate cancer. Unlike other solid tumors that are associated with osteolytic bone metastases, prostate cancer bone metastases stimulate osteoblastic activity with sclerosis in the bone lesions as a consequence. LÄS MER