Sökning: "Carl-johan Rubin"

Hittade 4 avhandlingar innehållade orden Carl-johan Rubin.

  1. 1. Functional Genomics of Bone Metabolism : Novel Candidate Genes Identified by Studies in Chicken Models

    Författare :Carl-Johan Rubin; Andreas Kindmark; Östen Ljunggren; Leif Andersson; David Burt; Uppsala universitet; []
    Nyckelord :Molecular medicine; QTL; Bone; Osteoporosis; Gene expression; Microarray; Domestication; Molekylärmedicin;

    Sammanfattning : Osteoporosis is a disease that leads to decreased bone mineral density (BMD), an altered bone micro-architecture and fragile bones. The disease is highly heritable and numerous genes are thought to be involved, making it difficult to identify the causative genetic elements. LÄS MER

  3. 2. The genetic basis for adaptation in natural populations

    Författare :Sangeet Lamichhaney; Leif Andersson; Carl-Johan Rubin; Alvaro Martinez Barrio; Henrik Kaessmann; Uppsala universitet; []
    Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; Adaptive evolution; Atlantic herring; ecological adaptation; seasonal reproduction; TSHR; Darwin’s finches; natural selection; beak; ALX1; HMGA2; ruff; lek; inversion; HSD17B2; MC1R;

    Sammanfattning : Many previous studies in evolutionary genetics have been based on few model organisms that can be reared at ease in the laboratory. In contrast, genetic studies of non-model, natural populations are desirable as they provide a wider range of adaptive phenotypes throughout evolutionary timescales and allow a more realistic understanding of how natural selection drives adaptive evolution. LÄS MER

  4. 3. Osteogenesis Imperfecta : Genetic and Therapeutic Studies

    Författare :Katarina Lindahl; Östen Ljunggren; Andreas Kindmark; Carl-Johan Rubin; David Sillence; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; OI; BMD; Genotype; Phenotype; Pharmaco-genetics; Bisphosphonate; Therapy; Gene-therapy; Mutation; Collagen; Collagen type I; Allele-specific silencing; siRNA; RNAi; COL1A1; COL1A2; Stroke; C-propeptide; Mineralization; Heterozygous disadvantage; Genetics; Genetik; Medicin; Medicine; Medical Genetics; Medicinsk genetik;

    Sammanfattning : Osteogenesis imperfecta (OI) is a heterogeneous disease of connective tissue, the cardinal symptom being fractures and severity ranging from mild to lethal. Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause >90% of cases. LÄS MER

  5. 4. Exploring genetic diversity in natural and domestic populations through next generation sequencing

    Författare :Nima Rafati; Leif Andersson; Carl-Johan Rubin; Alvaro Martinez Bario; Craig Primmer; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Ecological adaptation; seasonal reproduction; Atlantic herring; domestication; speciation; rabbit; skeletal atavism; Shetland ponies; NGS; SMRT sequencing; genome; transcriptome; assembly; structural variation; genetic diversity; HCE; TSHR; SHOX; CRLF2;

    Sammanfattning : Studying genetic diversity in natural and domestic populations is of major importance in evolutionary biology. The recent advent of next generation sequencing (NGS) technologies has dramatically changed the scope of these studies, enabling researchers to study genetic diversity in a whole-genome context. LÄS MER