Sökning: "splice mutations"

Visar resultat 1 - 5 av 54 avhandlingar innehållade orden splice mutations.

  1. 1. p53 inactivation by point mutations and splice site mutations in human and mouse tumors

    Detta är en avhandling från Stockholm : Karolinska Institutet, false

    Författare :Kristinn P. Magnússon; Karolinska Institutet.; Karolinska Institutet.; [1998]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; p53; Burkitt Iymphoma; apoptosis; alternative splicing; mutation; ascites;

    Sammanfattning : The p53 tumor suppressor gene is frequently mutated in human tumors. p53 induces cell cycle arrest and/or apoptosis in response to cellular stress, such as DNA damage, hypoxia and certain activated oncogenes like c-myc. The status of p53 in Burkitt's Iymphoma (BL) cell lines was investigated. The majority of BL lines expressed mutated p53 protein. LÄS MER

  2. 2. Design and application of RNA therapeutics for splice site mutations

    Detta är en avhandling från Stockholm : Karolinska Institutet, Dept of Laboratory Medicine

    Författare :Burcu Bestas; Karolinska Institutet.; Karolinska Institutet.; [2015]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Precursor messenger RNA splicing is one of the most fundamental and complex mechanisms in eukaryotes. Over 90% of the human genes undergo alternative splicing, which is essential for the regulation of gene expression. A dynamic RNA-protein complex called the spliceosome catalyzes splicing. LÄS MER

  3. 3. Genomic and transcriptomic sequencing in chronic lymphocytic leukemia

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Diego Cortese; Uppsala universitet.; [2016]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic; lymphocytic; leukemia; CLL; genomics; transcriptomics; DNA; RNA; mutations; NGS; whole-exome; sequencing; prognostic; markers; TP53; SF3B1; RPS15; relapse; stereotyped; subsets.;

    Sammanfattning : Identification of recurrent mutations through next-generation sequencing (NGS) has given us a deeper understanding of the molecular mechanisms involved in chronic lymphocytic leukemia (CLL) development and progression and provided novel means for risk assessment in this clinically heterogeneous disease. In paper I, we screened a population-based cohort of CLL patients (n=364) for TP53, NOTCH1, SF3B1, BIRC3 and MYD88 mutations using Sanger sequencing, and confirmed the negative prognostic impact of TP53, SF3B1 or NOTCH1 aberrations, though at lower frequencies compared to previous studies. LÄS MER

  4. 4. Splice site selection in Saccharomyces cerevisiae pre-mRNA splicing

    Detta är en avhandling från Stockholm : Karolinska Institutet, false

    Författare :B.G. Mattias Luukkonen; Karolinska Institutet.; Karolinska Institutet.; [1998]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Pre-mRNA splicing is the process by which intervening sequences (introns) are removed from the coding sequences (exons) resulting in a mature messenger-RNA (mRNA). Splicing takes place in a large ribonucleoprotein complex termed the spliceosome, composed of several protein components and the five small nuclear RNAs (snRNAs) U I, U2, U4, U5 and U6. LÄS MER

  5. 5. Quantitative analysis of disease associated mutations and sequence variants

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Charlotta Olsson; Uppsala universitet.; [2001]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin 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