Sökning: "Gene variants"
Visar resultat 1 - 5 av 514 avhandlingar innehållade orden Gene variants.
1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants
Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER
2. Gene Expression in Cancer Cells : Detection of Splice Variants, Allele-specific Expression and DNA Methylation
Sammanfattning : 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. LÄS MER
Sammanfattning : Hypospadias is a common congenital malformation in boys, characterized by incomplete fusion of the urethral folds, abnormal opening of urethra and different degrees of curvature of the penis. In Sweden, the incidence of hypospadias is 1.14 per 300 male live-births according to the annual Swedish Malformation Registry. LÄS MER
Sammanfattning : Heritable genetic variation is the raw material of evolution and can occur in many different forms, from altering single nucleotides to rearranging stretches of millions at once. DNA mutations that result in phenotypic differences are the basis upon which natural selection can act, leading to a shift of the frequency of those mutations. LÄS MER
Sammanfattning : Bipolar disorder is a chronic, cycling disorder affecting circa 2% of the population and whose pathophysiology is still largely unknown. It has been suggested that common treatments used for bipolar disorder have effects on the sex steroids yet sex steroids have also been shown to have widespread effects in the brain in systems of relevance to bipolar disorder. LÄS MER