Search for dissertations about: "gene variants"

Showing result 1 - 5 of 523 swedish dissertations containing the words gene variants.

  1. 1. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

    Author : Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

    Abstract : 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. READ MORE

  2. 2. 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

  3. 3. Hypospadias : Gene mapping and candidate gene studied

    Author : Thi Thai Hanh Trinh; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : 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. READ MORE

  4. 4. Evolutionary genomics in Corvids : – From single nucleotides to structural variants

    Author : Matthias H. Weissensteiner; Jochen B.W. Wolf; Manfred Grabherr; Kateryna M. Makova; Uppsala universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; evolutionary genetics; genomics; population genetics; selection; recombination; chromosomal features; colouration; insertion; deletion; inversion; crow; tandem repeat; transposable element; gene expression;

    Abstract : 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. READ MORE

  5. 5. Sex Steroids and Gene Variants in Bipolar Disorder

    Author : Anette GM Johansson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : 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. READ MORE