Sökning: "high-resolution melting"

Visar resultat 11 - 14 av 14 avhandlingar innehållade orden high-resolution melting.

  1. 11. Anaesthesia and Genetics of the Ryanodine 1 Receptor

    Författare :Marcus Ewert Broman; Lund Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; General Anaesthesia; Ryanodine 1 Receptor; Malignant Hyperthermia; Genetics;

    Sammanfattning : The only validated method to characterize the phenotype and to reach a definitive diagnosis of Malignant Hyperthermia Susceptibility (MHS; OMIM *145600), a pharmacogenetic disease linked to the Ryanodine 1 receptor gene (RYR1; OMIM *180901), is an invasive muscle contraction test requiring a muscle biopsy, according to the European (IVCT) protocol or to the North American (CHCT) protocol. The series of scientific papers in this thesis tries to reach as far as possible in diagnosing MHS from peripheral venous blood samples collected at the patients’ local primary care provider and sent to the laboratory over significant transportation time and distance. LÄS MER

  3. 12. Improving the understanding of cloud radiative heating

    Författare :Erik Johansson; Abhay Devasthale; Michael Tjernström; Annica M. L. Ekman; Robert Pincus; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; clouds; radiative effects; upper troposphere-lower stratosphere; atmospheric circulation; remote sensing; atmosfärvetenskap och oceanografi; Atmospheric Sciences and Oceanography;

    Sammanfattning : Clouds play an essential role in regulating Earth’s radiation budget by reflecting and absorbing energy at different spectra. As they interact with radiation, they can radiatively heat or cool the adjacent atmosphere and the surface. LÄS MER

  4. 13. Some Aspects of Nucleic Acids Chemistry

    Författare :Edouard Zamaratski; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Bioorganic chemistry; Bioorganisk kemi; Bioorganic chemistry; Bioorganisk kemi; bioorganisk kemi; Biorganic Chemistry;

    Sammanfattning : This thesis is divided into two parts based on a total of 8 papers: Part 1: Synthesis, physicochemical and biochemical studies of chemically modified oligonucleotides and their duplexes and triplexes. Potency of the chromophore conjugated DNA oligonucleotides as antigene and antisense gene repressors was evaluated. LÄS MER

  5. 14. Characterization of transcription of genomic regions harboring HERV-W elements

    Författare :Fang Li; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Human endogenous retroviruses (HERV) comprise 8% of the human genome and can be classified into at least 31 families. A typical HERV provirus consists of internal gag, pol and env genes, flanked by two long terminal repeats (LTRs). HERV are by nature repetitive and have with few notable exceptions lost their protein-coding capacity. LÄS MER