Sökning: "SNP"

Visar resultat 26 - 30 av 357 avhandlingar innehållade ordet SNP.

1. 26. Understanding the Noise : Spliceosomal snRNA Profiling

   Författare :Lei Liu Conze; Anders Virtanen; Lars Wieslander; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; ncRNA; snRNA; U1; splice site; alternative splicing; high-throughput sequencing; 454; SNP; Molekylär cellbiologi; Molecular Cellbiology;

   Sammanfattning : The concept of the gene has been constantly challenged by new discoveries in the life sciences. Recent challenging observations include the high frequency of alternative splicing events and the common transcription of non-protein-coding-RNAs (ncRNAs) from the genome. The latter has long been considered noise in biological systems. LÄS MER

3. 27. Analysis of Complex Genetic Traits in Population Cohorts using High-throughput Genotyping Technology

   Författare :Andreas Dahlgren; Ann-Christine Syvänen; Håkan Melhus; Markus Perola; Struan Grant; Uppsala universitet; []
   Nyckelord :Molecular medicine; SNP; TCF7L2; HHEX; COL11A1; ESR1; body height; type 2 diabetes mellitus; proinsulin; ULSAM; complex genetic trait; genotyping technology; Molekylärmedicin;

   Sammanfattning : Most human traits and common diseases have a complex genetic makeup involving more than one gene. The work presented in this thesis investigates standing body height and the common disease type 2 diabetes mellitus (T2DM). LÄS MER

4. 28. Genomic strategies towards the dissection of human complex disease

   Författare :Tesfai Emahazion; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mapping; complex disease; polymorphism; SNP; association analysis; Alzheimer s disease; oxidative phosphorylation; apoptosis; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Sammanfattning : Complex diseases are caused by the activities of many genes acting in concert with environmental factors. A major challenge facing human genetic research is to unravel the genetic factors behind complex disorders. LÄS MER

5. 29. The hemostatic pathway in ischemic stroke. Clinical studies of genetic variation and plasma protein measurements

   Författare :Ellen Hanson; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ischemic stroke; etiologic subtypes of ischemic stroke; genetics; SNP; hemostasis; prothrombotic; ADAMTS13; VWF; ABO blood group; FSAP; FXI;

   Sammanfattning : Although stroke is a common cause of death and disability in adults, there are few studies on stroke compared to other common diseases. A stroke could be either ischemic or hemorrhagic, but even within these two groups, disease etiology shows heterogeneity. LÄS MER

7. 30. Studies on the genetic basis of Pk, P and P1 blood group antigen expression

   Författare :Åsa Hellberg; Avdelningen för hematologi och transfusionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immunologi; serology; serologi; transplantation; Immunology; SNP; phenotype; erythrocyte; blood group; glycosyltransferase;

   Sammanfattning : The clinically important carbohydrate P/GLOB blood group systems and collection give rise to both common (P1, P2) and rare (p, P1k, P2k) blood group phenotypes. The associated antibodies are implicated in severe transfusion reactions and recurrent spontaneous abortions. LÄS MER