Search for dissertations about: "candidate gene"

Showing result 6 - 10 of 577 swedish dissertations containing the words candidate gene.

  2. 6. From GWAS to gene : Zebrafish as a model system for large-scale studies of obesity and comorbidities

    Author : Eugenia Mazzaferro; Marcel den Hoed; Randall Peterson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; zebrafish; genetic screens; gene editing; CRISPR Cas9; obesity; Medicinsk genetik; Medical Genetics;

    Abstract : Obesity increases the risk of developing comorbidities such as cardiovascular and metabolic diseases. However, not all obese individuals develop comorbidities, and those that do not are referred to as “metabolically healthy obesity” individuals. READ MORE

  4. 7. Retroviral gene transfer to repopulating hematopoietic cells

    Author : Thomas Relander; Tumörmikromiljö; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GLVR-1; VSV-G; amphotropic; GALV; long-term bone marrow culture; NOD SCID; retroviral vector; hematopoietic stem cells; stem cells; gene transfer; gene therapy; fibronectin; Clinical genetics; Klinisk genetik;

    Abstract : Hematopoietic stem cells (HSCs) have the capacity to maintain hematopoiesis throughout life. HSCs are ideal targets for permanent gene transfer, as the transgene will be expressed in all the progeny of the gene-modified stem cells. READ MORE

  5. 8. Candidate gene effects on beef quality

    Author : Marie Ekerljung; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
    Keywords : LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

    Abstract : The contribution of five candidate genes to the variation in meat tenderness, pH, colour, marbling and water holding capacity (WHC) was analysed in muscle samples from 243 young bulls of Angus, Charolais, Hereford, Limousin, or Simmental breed, raised in Swedish commercial herds. The animals were genotyped for single nucleotide polymorphisms (SNPs) in the genes encoding calpain 1 (CAPN1:c. READ MORE

  6. 9. Identification of Candidate Genes in Four Human Disorders

    Author : Malin Melin; Niklas Dahl; Anders Isaksson; Juha Kere; Uppsala universitet; []
    Keywords : Genetics; Ichthyosis; Leukodystrophy; Kostmann disease; Autism; Genetic disorders; Candidate gene; Genetik;

    Abstract : The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease. READ MORE

  7. 10. Genetic Variability in Human Bone Phenotypes : The Vitamin D Receptor Gene and the Estrogen Receptor-α Cofactor RIZ Gene

    Author : Elin Grundberg; Andreas Kindmark; Östen Ljunggren; Helena Brändström; André G. Uitterlinden; Uppsala universitet; []
    Keywords : Medicine; Bone mineral density; candidate gene approach; polymorphism; the vitamin D receptor; the estrogen receptor α; RIZ1; cofactor; allelic imbalance; Medicin;

    Abstract : Important candidate genes to human bone phenotypes are those involved in the regulation of hormonal action, such as the vitamin D receptor (VDR) and the estrogen receptor-α (ERα) genes and their cofactors. RIZ1 is a specific ERα cofactor proved to strongly enhance the function of the ERα. READ MORE