Sökning: "splice mutations"

Visar resultat 1 - 5 av 60 avhandlingar innehållade orden splice mutations.

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

   Författare :Kristinn P Magnússon; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :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

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

   Författare :Burcu Bestas; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   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

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

   Författare :Diego Cortese; Richard Professor; Carlos López Otín; Uppsala universitet; []
   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

5. 4. The balance of splicing : A novel insight into the splicing regulation of high-risk HPV E6 and E7 oncogenes

   Författare :Johanna Jönsson; Naoko Kajitani; Stefan Schwartz; Ola Forslund; Francesca Aguilo; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; HPV; splice donor; splice acceptor; cis-element; trans-acting factor; pre-mRNA splicing; splicing regulation.; Medical Virology; Medicinsk virologi;

   Sammanfattning : HPV is associated with several cancers. The genome consists of a long control region, early (E1, E2, E4, E5, E6 and E7) and late (L1 and L2) genes. The E6 and E7 proteins prevent cells from entering apoptosis and regulate the cell cycle. A deregulated expression of these can result in malignant transformations. LÄS MER

7. 5. Splice site selection in Saccharomyces cerevisiae pre-mRNA splicing

   Författare :B G Mattias Luukkonen; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   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