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Visar resultat 1 - 5 av 114 avhandlingar som matchar ovanstående sökkriterier.

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. Biosensor technology applied to hybridization analysis and mutation detection

   Författare :Peter Nilsson; KTH; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; biosensor; genosensor; surface plasmon resonance; hybridization; nucleic acids; oligonucleotide; mutation detection; mismatch discrimination; modular; Bioengineering; Bioteknik;

   Sammanfattning : This thesis demonstrates the application of biosensor technology for molecular biology investigations, utilizing a surface plasmon resonance based optical device for mass sensitive detection of biomolecular interactions at a chipsurface. Oligonucleotide model systems were designed for analysis of the action of DNA manipulating enzymes. LÄS MER

4. 3. Detection and analysis of genetic alterations in normal skin and skin tumours

   Författare :Åsa Sivertsson; KTH; []
   Nyckelord :single cell; DNA sequencing; p53; mutation; UV; BCC; pyrosequencing; malignant melanoma; N-ras;

   Sammanfattning : The investigation of genetic alterations in cancer-relatedgenes is useful for research, prognostic and therapeuticpurposes. However, the genetic heterogeneity that often occursduring tumour progression can make correct analysischallenging. LÄS MER

5. 4. Pathogenic Mechanisms of the Arctic Alzheimer Mutation

   Författare :Charlotte Sahlin; Lars Lannfelt; Lars Nilsson; Christian Haass; Uppsala universitet; []
   Nyckelord :Neurosciences; Alzheimer s disease; Arctic mutation; Amyloid precursor protein; Amyloid-β; APP processing; Aβ oligomers; Docosahexaenoic acid; Neurovetenskap;

   Sammanfattning : Alzheimer’s disease (AD) is a progressive neurodegenerative disorder, neuropathologically characterized by neurofibrillay tangles and deposition of amyloid-β (Aβ) peptides. Several mutations in the gene for amyloid precursor protein (APP) cause familial AD and affect APP processing leading to increased levels of Aβ42. LÄS MER

7. 5. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

   Författare :Annika Bergman; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

   Sammanfattning : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. LÄS MER