Sökning: "phenotype analysis"

Visar resultat 1 - 5 av 539 avhandlingar innehållade orden phenotype analysis.

1. 1. Genetic investigations of four neurological disorders : From phenotype to mutation

   Författare :Anna Sillén; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

   Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER

3. 2. Genetic analysis of murine malaria

   Författare :Susana Campino; Dan Holmberg; Nils Lycke; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Malaria; genetic analysis; Plasmodium; wild derived inbred strains; loci; cerebral malaria; hyperparasitaemia.; Genetik; Clinical genetics; Klinisk genetik; genetik; Genetics;

   Sammanfattning : Malaria, an infectious disease caused by Plasmodium parasites, is one of the major world-scale health problems. Despite the efforts aimed at finding an effective way to control the disease, the success has been thwarted by the emergence of parasite drug resistance and mosquito resistance to insecticides. LÄS MER

4. 3. Analysis of large-scale metagenomic data

   Författare :Fredrik Boulund; Göteborgs universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; metagenomics; DNA analysis; big data; antibiotic resistance; hidden Markov models; high-performance computing; distributed computing; distributed computing;

   Sammanfattning : The topic of this thesis is the analysis of large data sets of DNA sequence data produced from modern high-throughput DNA sequencing machines. Using such machines to sequence the genetic content of a microbial community produces a metagenome. This thesis comprises three research papers, all connected to the study of large metagenomic data sets. LÄS MER

5. 4. A genomic approach to smooth muscle differentiation and diversity

   Författare :Sven Nelander; Göteborgs universitet; []
   Nyckelord :Keywords: smooth muscle; phenotype; transcriptional regulation; differentiation; transcriptome; microarray; computational prediction; co-expression network; regulatory sequence analysis; gene module; gene battery;

   Sammanfattning : Smooth muscle cells (SMCs) are a broad class of contractile cells that are found in a number of organs systems, including the vasculature, the urogenital system, the bronchi and the gastrointestinal tract. The two main functions exerted by SMCs are to provide contractile force and to synthesize structural components of the extracellular matrix. LÄS MER

7. 5. Studies of ulcerative colitis with concomitant primary sclerosing cholangitis : Beyond the clinical phenotype

   Författare :Johan Vessby; Marie Carlson; Maria Lampinen; Mikael Åberg; Fredrik Rorsman; Björn Lindkvist; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; IBD; PSC; ulcerative colitis; PSC-UC; immunology; eosinophils; T cells; tissue factor; proteomics; Medicinsk vetenskap; Medical Science;

   Sammanfattning : Inflammatory bowel disease (IBD) is a group of chronically relapsing immune-related disorders, engaging the gastrointestinal tract. Symptoms vary depending on inflammatory phenotype, but may include diarrhoea, bowel pain and weight loss. The two most common entities are Crohn's disease and ulcerative colitis (UC). LÄS MER