Sökning: "single nucleotide variant"

Visar resultat 1 - 5 av 70 avhandlingar innehållade orden single nucleotide variant.

1. 1. Exploring genetic heterogeneity in cancer using high-throughput DNA and RNA sequencing

   Författare :Erik Fasterius; Cristina Al-Khalili Szigyarto; Mathias Uhlén; Peter-Bram ’t Hoen; KTH; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; NATURVETENSKAP; NATURAL SCIENCES; Biotechnology; bioinformatics; RNA-seq; WGS; WES; systems biology; variant analysis; single nucleotide variant; gene expression; machine learning; clustering; open source; R; bioconductor; Python; Bioteknologi; Biotechnology;

   Sammanfattning : High-throughput sequencing (HTS) technology has revolutionised the biomedical sciences, where it is used to analyse the genetic makeup and gene expression patterns of both primary patient tissue samples and models cultivated in vitro. This makes it especially useful for research on cancer, a disease that is characterised by its deadliness and genetic heterogeneity. LÄS MER

3. 2. RNA-based spatial characterization of cell and tissue heterogeneity

   Författare :Elin Lundin; Mats Nilsson; Rickard Sandberg; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Padlock probes; in situ sequencing; single cell resolution; single nucleotide variant resolution; spatial transcription profiling; Biochemistry; biokemi;

   Sammanfattning : Technical advances in cell biology have revolutionized the field of cell biology. With new technology it is now possible to address scientific questions in cell biology at the molecular level. LÄS MER

4. 3. Genetic studies on cardiovascular disease - identification of novel drug targets

   Författare :Stefan Amisten; Kardiologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Medicin människa och djur ; Medicine human and vertebrates ; platelet; single nucleotide polymorphism; myocardial infarction; stent; G-protein coupled receptor; P2Y; cytogenetics; Genetik; cytogenetik; Cardiovascular system; Kardiovaskulära systemet;

   Sammanfattning : The aim of this thesis was to identify novel potential drug targets of cardiovascular disease with a focus on G-protein coupled receptors. We identified a common genetic variant of the ATP receptor P2Y11, where an alanine is substituted with a threonine at position 87 of the P2Y11 receptor that increases the risk of developing acute myocardial infarction. LÄS MER

5. 4. Functional Role of Genetic Polymorphisms Associated with Systemic Lupus Erythematosus

   Författare :Sara E Löfgren; Ulf Gyllensten; Jan Hillert; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; autoimmunity; systemic lupus erythematosus; genetic association; single nucleotide polymorphism; IRF5; CD226; miR-146a; Medical Science; Medicinsk vetenskap; Medical Genetics; Medicinsk genetik;

   Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and complex autoimmune disorder characterized by a failure in the mechanism of self-tolerance and production of autoantibodies, potentially affecting any organ in the body. The genetic factors behind the disease have been extensively studied in the past years and to date a list of more than 30 loci have been associated with SLE. LÄS MER

7. 5. Genetic variation at the human tissue-type plasminogen activator locus

   Författare :Per Ladenvall; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; tissue-type plasminogen activator; single-nucleotide polymorphism; vascular release; myocardial infarction; enhancer; Sp1.;

   Sammanfattning : Tissue-type plasminogen activator (tPA) is the key initiator of intravascular fibrinolysis. Family studies suggest that tPA release is regulated by hereditary factors. LÄS MER