Sökning: "single nucleotide polymorphisms"

Visar resultat 26 - 30 av 220 avhandlingar innehållade orden single nucleotide polymorphisms.

1. 26. 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

3. 27. Analysis of Nucleotide Variations in Non-human Primates

   Författare :Ann-Charlotte Rönn; Ann-Christine Syvänen; Mats Nilsson; Phillip Morin; Uppsala universitet; []
   Nyckelord :Molecular genetics; SNP; genotyping; primate; chimpanzee; whole genome amplification; multiple displacement amplification; minisequencing; microarray; Y-chromosome; mitochondria; Genetik;

   Sammanfattning : Many of our closest relatives, the primates, are endangered and could be extinct in a near future. To increase the knowledge of non-human primate genomes, and at the same time acquire information on our own genomic evolution, studies using high-throughput technologies are applied, which raises the demand for large amounts of high quality DNA. LÄS MER

4. 28. Computational and experimental approaches to regulatory genetic variation

   Författare :Malin Andersen; Jacob Odeberg; John Peden; KTH; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Molecular biology; Genetics; single nucleotide polymprhism SNP ; regulatory SNP; transcription factor binding site; phylogenetic footprinting; allelic imbalance; EMSA; CD36; cardiovascular disease.; Genetic engineering including functional genomics; Genteknik inkl. funktionsgenomik;

   Sammanfattning : Genetic variation is a strong risk factor for many human diseases, including diabetes, cancer, cardiovascular disease, depression, autoimmunity and asthma. Most of the disease genes identified so far alter the amino acid sequences of encoded proteins. LÄS MER

5. 29. Exploring Positional and Functional Candidate Genes for Type 2 Diabetes

   Författare :Johan Holmkvist; diabetes och endokrinologi Genomik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi; MODY; type 2 diabetes; Endocrinology; calcium channel; insulin secretion; insulin; single nucleotide polymorphism SNP glucose; linkage disequilibrium; genetic association; genetics;

   Sammanfattning : Type 2 diabetes (T2D) is a complex, metabolic disorder characterized by hyperglycaemia because of defects in insulin secretion and sensitivity. The rapid increase in T2D is likely to reflect the influence of both genetic and environmental factors in disease development. However, the genetic aetiology of T2D remains largely unknown. LÄS MER

7. 30. The role of telomerase reverse transcriptase in human malignancies : genetic polymorphisms and promoter mutations

   Författare :Xiaotian Yuan; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Telomerase is a ribonucleoprotein with its catalytic subunit telomerase reverse transcriptase (TERT) as a key component, lengthening telomeres. In differentiated human cells, telomerase is silent due to the transcriptional repression of the TERT gene, but activated in oncogenesis. LÄS MER