Search for dissertations about: "candidate gene"

Showing result 21 - 25 of 577 swedish dissertations containing the words candidate gene.

  2. 21. Gene and pathway associations in neurodevelopmental disorders

    Author : Mitra Etemadikhah; Lars Feuk; Kristiina Tammimies; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gene expression analyses; Neurodevelopmental disorders; Intellectual disability; Schizophrenia;

    Abstract : Neurodevelopmental disorders are complex and heterogenous disorders affecting brain development. In this thesis, we study intellectual disability (ID) and schizophrenia, and we applied genomic, transcriptomic, and proteomic techniques to identify and further investigate candidate variants and important genes and pathways involved in pathology of these two disorders. READ MORE

  4. 22. Clinical and genetic studies of three inherited skeletal disorders

    Author : Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal disorders; osteochondritis dissecans; ACAN-gene; multiple epiphyseal dysplasia; brachydactyly type A1; IHH-gene; Medical genetics; Medicinsk genetik; klinisk genetik; Clinical Genetics;

    Abstract : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. READ MORE

  5. 23. Gene Expression in Cancer Cells : Detection of Splice Variants, Allele-specific Expression and DNA Methylation

    Author : Lili Milani; Ann-Christine Syvänen; Thomas R. Gingeras; Uppsala universitet; []
    Keywords : ;

    Abstract : The human genome sequencing project has provided a wealth of information on sequence variation between individuals. The surprisingly low number of genes in the human genome is compensated for by a complex regulation of gene expression. READ MORE

  6. 24. Genetic Mapping of Susceptibility Genes for Systemic Lupus Erythematosus

    Author : Bo Johanneson; Jean Pierre Hugot; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Association analysis; Candidate gene; Complex disease; Genome scan; Linkage analysis; Mapping; Susceptibility genes; Systemic lupus erythematosus; Genetik; Genetics; Genetik; medicinsk genetik; Medical Genetics;

    Abstract : Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unknown etiology. The aim of this thesis was to identify susceptibility regions through genetic mapping, using model-based linkage analysis on nuclear and extended SLE multicase families. READ MORE

  7. 25. Gene Mapping in Ficedula Flycatchers

    Author : Niclas Backström; Hans Ellegren; Juha Merilä; Uppsala universitet; []
    Keywords : collared flycatcher; SNP; linkage disequilibrium; genetic map; pedigree;

    Abstract : In order to get full understanding of how evolution proceeds in natural settings it is necessary to reveal the genetic basis of the phenotypic traits that play a role for individual fitness in different environments. There are a few possible approaches, most of which stem from traditional mapping efforts in domestic animals and other model species. READ MORE