Sökning: "Driver mutations"

Visar resultat 1 - 5 av 35 avhandlingar innehållade orden Driver mutations.

1. 1. Experimental Evolution : and Fitness Effects of Mutations

   Författare :Anna Knöppel; Dan I Andersson; Stanley Maloy; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Experimental evolution; Fitness effects; mutations; S20; fis; ribosome; horizontal gene transfer; adaptation; synonymous mutations; Mikrobiologi; Microbiology;

   Sammanfattning : Bacteria have small, streamlined genomes and evolve rapidly. Their large population sizes allow selection to be the main driver of evolution. With advances in sequencing technologies and precise methods for genetic engineering, many bacteria are excellent models for studying elementary questions in evolutionary biology. LÄS MER

3. 2. Recurrent Genetic Mutations in Lymphoid Malignancies

   Författare :Emma Young; Richard Rosenquist; Larry Mansouri; Lesley Ann Sutton; Dimitar Efremov; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Lymphoid malignancies; mutations; CLL; stereotypy; subsets; PMBL; NFKBIE; EGR2; whole-genome sequencing; Molekylär genetik; Molecular Genetics; Oncology; Onkologi;

   Sammanfattning : In recent years, the genetic landscape of B-cell derived lymphoid malignancies, including chronic lymphocytic leukemia (CLL), has been rapidly unraveled, identifying recurrent genetic mutations with potential clinical impact. Interestingly, ~30% of all CLL patients can be assigned to more homogeneous subsets based on the expression of a similar or “stereotyped” B-cell receptor (BcR). LÄS MER

4. 3. Pan-cancer study of transcriptional responses to oncogenic somatic mutations

   Författare :Arghavan Ashouri; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cancer; Driver mutations; Genomics; Transcriptomics; lncRNAs; NRF2; ALK;

   Sammanfattning : Cancer cells typically carry acquired somatic mutations in key cancer driver genes, which can be identified on the basis of recurrence in cancer cohorts. Such mutations may cause aberrant protein activity and altered gene expression in the nucleus, driving the cell toward a cancerous phenotype. LÄS MER

5. 4. Understanding Cancer Mutations by Genome Editing

   Författare :Muhammad Akhtar Ali; Tobias Associate Professor; Thierry Soussi; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genome editing; rAAV; ZBED6; DIP2C; KRAS; BRAF; colorectal cancer; tumor driver genes; cancer pathways;

   Sammanfattning : Mutational analyses of cancer genomes have identified novel candidate cancer genes with hitherto unknown function in cancer. To enable phenotyping of mutations in such genes, we have developed a scalable technology for gene knock-in and knock-out in human somatic cells based on recombination-mediated construct generation and a computational tool to design gene targeting constructs. LÄS MER

7. 5. Comprehensive analysis of structural genomic alterations in cancer : Computational approaches for identifying cancer driver events

   Författare :Babak Alaei-Mahabadi; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Somatic structural variations; viral integrations; gene fusions; somatic genomic alterations;

   Sammanfattning : The transformation of a normal cell into a cancer cell involves the accumulation of somatic DNA alterations that confer growth and survival advantages. These genomic alterations can be different in terms of pattern and size, comprising single nucleotide variants (SNVs), small insertions or deletions (indels), structural variations (SVs) or foreign DNA insertions such as viral DNA. LÄS MER