Search for dissertations about: "allelic variants"

Showing result 1 - 5 of 59 swedish dissertations containing the words allelic variants.

  2. 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 : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL 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

  4. 2. Exploring the Functional Plasticity of Human Glutathione Transferases : Allelic Variants, Novel Isoenzyme and Enzyme Redesign

    Author : Ann-Sofie Johansson; Philip Board; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Biochemistry; Biokemi; Biochemistry; Biokemi; biokemi; Biochemistry;

    Abstract : Glutathione transferases (GSTs) make up a superfamily that is involved in the cellular defense against various reactive compounds by catalyzing the conjugation of glutathione to electrophilic centra. Members of this family have also been implicated in different facets of biological signaling. READ MORE

  5. 3. Monogenic Traits Associated with Structural Variants in Chicken and Horse : Allelic and Phenotypic Diversity of Visually Appealing Traits

    Author : Freyja Imsland; Leif Andersson; Gabriella Lindgren; Kerstin Lindblad-Toh; Eiríkur Steingrímsson; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; Structural variation; Pigmentation; Domestication; Equids; MNR2; CCDC108; STX17; TBX3; Grey; Dun; non-dun; Rose-comb; Chicken; Genetic mapping; Phenotyping; Molekylär genetik; Molecular Genetics;

    Abstract : Domestic animals have rich phenotypic diversity that can be explored to advance our understanding of the relationship between molecular genetics and phenotypic variation. Since the advent of second generation sequencing, it has become easier to identify structural variants and associate them with phenotypic outcomes. READ MORE

  6. 4. Mutational Analysis and Redesign of Alpha-class Glutathione Transferases for Enhanced Azathioprine Activity

    Author : Olof Modén; Bengt Mannervik; Mikael Widersten; Kenneth Tew; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; allelic variants; azathioprine; bioactivation; chimeric mutagenesis; directed evolution; DNA shuffling; enzyme engineering; glutathione transferase; GST; lysate screening; molecular docking; multiple alignment; multivariate analysis; polymorphism; principal component analysis; prodrug; prodrug activation; protein engineering; protein redesign; reduced amino acid alphabet; saturation mutagenesis; semi-rational enzyme engineering; site-directed mutagenesis; structure-activity relationship; structure-based redesign; Biokemi; Biochemistry;

    Abstract : Glutathione transferase (GST) A2-2 is the human enzyme most efficient in catalyzing azathioprine activation. Structure-function relationships were sought explaining the higher catalytic efficiency compared to other alpha class GSTs. READ MORE

  7. 5. Quantitative analysis of disease associated mutations and sequence variants

    Author : Charlotta Olsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; Clinical genetics; Klinisk genetik; Molecular Medicine; molekylär medicin genetik och patologi ;

    Abstract : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. READ MORE