Sökning: "exon skipping"

Visar resultat 1 - 5 av 12 avhandlingar innehållade orden exon skipping.

  1. 1. Mechanisms by which variants in the TCF7L2 gene increase the risk of developing Type 2 diabetes

    Författare :Yuedan Zhou; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TCF7L2; rs7903146; Type 2 diabetes; β cell function; β cell survival; insulin secretion; proinsulin synthesis; proinsulin-to-insulin conversion; insulin maturation; open chromain; exon skipping; p53; TP53INP1; ISL1; MAFA; NEUROD1; PDX1; NKX6.1; PCSK1; PCSK2; SLC30A8; GWAS.;

    Sammanfattning : Type 2 diabetes mellitus (T2DM) is a heterogeneous disease with a multifactorial aetiology comprising of genetic and environmental factors. The common variant most highly associated with T2DM known to date is a SNP rs7903146 in the TCF7L2 gene. However, the role TCF7L2 plays in the development of T2DM was unclear. LÄS MER

  3. 2. Hormone-sensitive lipase: Molecular analyses of the human gene; structural and evolutionary aspects on expression, alternative splicing and cold adaptation

    Författare :Henrik Laurell; Institutionen för experimentell medicinsk vetenskap; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; enzymologi; Proteiner; Proteins; enzymology;

    Sammanfattning : Hormone-sensitive lipase (HSL) is a key enzyme in adipose tissue that hydrolyses stored fat (triacylglycerol). The activity of HSL is under strict hormonal and neural control. LÄS MER

  4. 3. Function of adenovirus early region 4 proteins in RNA processing and cellular transformation

    Författare :Karin Öhman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Adenovirus; Adenovirus early region 4; pre-mRNA splicing; alternative splicing; cellulartransformation.;

    Sammanfattning : For almost 30 years, adenovirus has been used as a model system for mechanistic studies of eucaryote gene expression. In this thesis, we have concentrated our efforts to investigate the function of adenovirus early region 4 (E4) gene products in cellular transformation and the post-transcriptional regulation of gene expression. LÄS MER

  5. 4. Regulation of RNA Processing in Human Papillomavirus Type 16

    Författare :Margaret Rush; Stefan Schwartz; Jörgen Kjems; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; RNA processing; human papillomavirus; HPV-16; alternative splicing; polyadenylation; exonic splicing enhancer; 3 UTR; upstream polyadenylation element; SR proteins; Molekylärbiologi; Molecular biology; Molekylärbiologi;

    Sammanfattning : Human papillomavirus type 16 (HPV-16) is the major cause of cervical cancer. HPV-16 gene expression is tightly linked to the differentiation programme of the infected epithelium. Expression of the late genes, L1 and L2, encoding the capsid proteins, is delayed until the more terminally differentiated cells. LÄS MER

  7. 5. Mutation profile at the hprt locus in T-cells of non-smoking males

    Författare :Anne-May Österholm; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :human T-cells; hprt mutation; in vivo; deletion; splicing; base substitution;

    Sammanfattning : Extensive studies have been done on mutations in several marker genes in order to predict health consequences such as carcinogenesis. However, more information about mutations arising in vivo in somatic cells is needed to understand the relationship between the different factors involved in mutagenesis such as DNA damage, DNA repair capacity and individual susceptibility, and to elucidate the influence of endogenous mechanisms and environmental exposures. LÄS MER