Sökning: "ATP7B"

Visar resultat 6 - 9 av 9 avhandlingar innehållade ordet ATP7B.

  1. 6. Quantitative analysis of disease associated mutations and sequence variants

    Författare :Charlotta Olsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; Clinical genetics; Klinisk genetik; Molecular Medicine; molekylär medicin genetik och patologi ;

    Sammanfattning : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. LÄS MER

  3. 7. Genotyping RNA and DNA using padlock probes

    Författare :Dan-Oscar Antson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Padlock probe; enzymatic synthesis; PCR; in situ hybridization; RNA-templated DNA ligation; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Novel techniques are needed to investigate the genetic variation revealed in the first draft of the human genome sequence. Padlock probes are recently developed reagents, suitable for detecting single-nucleotide variations of DNA and RNA in situ or in solution. LÄS MER

  4. 8. Copper-transporting proteins and their interactions with platinum-based anticancer substances

    Författare :Maria Espling; Pernilla Wittung-Stafshede; Oleg Dmitriev; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cisplatin; Atox1; copper transport; anticancer drug; resistance; platinum; spectroscopy.; biologisk kemi; biological chemistry;

    Sammanfattning :   Cisplatin (CisPt) is an important drug that is used against various cancers, including testicular, ovarian, lung, head, and neck cancer. However, its effects are limited by cellular resistance. LÄS MER

  5. 9. Determining the effects of regulatory parameters on the structural dynamics of P-type ATPase membrane transporters

    Författare :Fredrik Orädd; Magnus Andersson; Magnus Wolf-Watz; Marco Cammarata; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; protein dynamics; regulation; time-resolved x-ray solution scattering; MD simulation; membrane protein; P-type ATPase; SERCA; CopA; HMA4; adenylate kinase; Physical Chemistry; fysikalisk kemi;

    Sammanfattning : Proteins are macromolecular machines with roles in all cellular activities and structures. The functional properties of each protein is the result of its combination of 3D-structure and inherent dynamics, and a wealth of structural and dynamic mechanisms have evolved to regulate protein activity. LÄS MER