Sökning: "in situ mutation detection"

Visar resultat 1 - 5 av 8 avhandlingar innehållade orden in situ mutation detection.

1. 1. Genotyping and Mutation Detection In Situ : Development and application of single-molecule techniques

   Författare :Ida Grundberg; Mats Nilsson; Ulf Landegren; Olli-Pekka Kallioniemi; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; padlock probes; in situ; rolling circle amplification; mRNA; genotyping; mutation detection; cancer; tissue sections; diagnostics; single-molecule; single-cell; microscopy; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

   Sammanfattning : The human body is composed of trillions of cells closely working together to maintain a functional organism. Every cell is unique in molecular composition and can acquire genetic variations that might cause it to turn pathological. LÄS MER

3. 2. Expression and Mutation Analyses of Candidate Cancer Genes In Situ

   Författare :Sara Kiflemariam; Tobias Sjöblom; Fredrik Pontén; Mef Nilbert; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; in situ; in situ hybridization; padlock probes; mRNA; tyrosine kinases; tyrosine phosphatases; fusion transcripts;

   Sammanfattning : Cancers display heterogeneity in genetic profiles of the individual cancer cells and in the composition of different malignant and non-malignant cell populations. Such intra-tumor heterogeneity plays a role in treatment response and the emergence of resistance to cancer therapies. LÄS MER

4. 3. Single-molecule Detection in situ

   Författare :Chatarina Larsson; Mats Nilsson; Ulf Landegren; Sanjay Tyagi; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; Molekylär medicin; Molecular Medicine; molekylär medicin genetik och patologi ;

   Sammanfattning : The human body contains a variety of different cell types that share a common genome, but differ in how they use the information encoded therein. Variation in molecular content exists even at the level of individual cells, and to provide deeper insight into complex cellular processes methods that permit analysis of each cell on its own are needed. LÄS MER

5. 4. Arrayed identification of DNA signatures

   Författare :Max Käller; Lundeberg Joakim; Mats Nilsson; KTH; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; apyrase; allele-specific extension; competitive hybridization; DNA sequencing; genotyping; human papillomavirus HPV ; MC1R; microarray; mutation; p53; protease; Bioengineering; Bioteknik;

   Sammanfattning : In this thesis techniques are presented that aim to determine individual DNA signatures by controlled synthesis of nucleic acid multimers. Allele-specific extension reactions with an improved specificity were applied for several genomic purposes. Since DNA polymerases extend some mismatched 3’-end primers, an improved specificity is a concern. LÄS MER

7. 5. Padlock Probe-Based Assays for Molecular Diagnostics

   Författare :Anja Mezger; Mats Nilsson; Paul Blainey; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Padlock probes; rolling circle amplification; molecular diagnostics; in situ mutation detection; Biochemistry; biokemi;

   Sammanfattning : Treatment success often depends on the availability of accurate and reliable diagnostic assays to guide clinical practitioners in their treatment choices. An optimal test must excel in specificity and sensitivity, and depending on the application area time, low-cost and simplicity are equally important. LÄS MER