Sökning: "Splice variants"

Visar resultat 6 - 10 av 71 avhandlingar innehållade orden Splice variants.

  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. Mechanisms behind growth of castration-resistant prostate cancer bone metastases

    Författare :Emma Jernberg; Pernilla Wikström; Jack Schalken; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Prostate cancer; castration-resistance; bone metastases; androgen receptor; intratumoral steroidogenesis; androgen receptor splice variants; androgen receptor amplification; patologi; Pathology;

    Sammanfattning : Background: The first-line treatment for patients with advanced prostate cancer (PC) is androgen deprivation therapy. This therapy is initially effective, but after some time tumors relapse, predominantly within the bone, and are then termed castration-resistant prostate cancer (CRPC). LÄS MER

  4. 8. Expression of thioredoxin reductase 1 in mammalian cells with regulation by the core promoter and use of alternative splice variants

    Författare :Anna-Klara Rundlöf; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Redox regulation; thioredoxin reductase; TXNRD1; selenoprotein; promoter; transcription; alternative splicing; expression;

    Sammanfattning : Reactive oxygen species are generated in cells as by-products of aerobic metabolism. To protect from damaging effects the cells possess several antioxidant systems and one of the most important is the thioredoxin system. LÄS MER

  5. 9. Computational Approaches to the Identification and Characterization of Non-Coding RNA Genes

    Författare :Pontus Larsson; Anders Virtanen; Leif Kirsebom; Stephen Mount; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; ncRNA; snRNA; U1; splice site; alternative splicing; Dictyostelium; nucleotide composition; partial sums; Bioinformatics; Bioinformatik;

    Sammanfattning : Non-coding RNAs (ncRNAs) have emerged as highly diverse and powerful key players in the cell, the range of capabilities spanning from catalyzing essential processes in all living organisms, e.g. protein synthesis, to being highly specific regulators of gene expression. LÄS MER

  7. 10. Molecular heterogeneity of prostate cancer bone metastasis

    Författare :Erik Bovinder Ylitalo; Pernilla Wikström; Anders Bergh; Maria Brattsand; Vessela Kristensen; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Prostate cancer; CRPC; castration-resistant; androgen receptor; splice variant; abiraterone; cabazitaxel; ABCB1; cholesterol; Mdr1; P-gp; bone metastasis; immune response; metabolism; osteoblast; osteoclast; BMP; methylation;

    Sammanfattning : Castration-resistant prostate cancer (CRPC) develops after androgen deprivation therapy of advanced PC, often with metastatic growth in bone. Patients with metastatic CRPC have very poor prognosis. Growth of CRPC, in most but not all patients, seems to involve androgen receptor (AR) activity, despite castrate levels of serum testosterone. LÄS MER