Sökning: "susceptibility genes"

Visar resultat 1 - 5 av 443 avhandlingar innehållade orden susceptibility genes.

  1. 1. Susceptibility genes in conformational diseases

    Författare :Malin von Otter; Göteborgs universitet; []
    Nyckelord :Conformational disease; Alzheimer’s disease; Parkinson’s disease; Cataract Protein aggregation; Cellular transport; Oxidative stress; Susceptibility; genes; SNP; Haplotype;

    Sammanfattning : Conformational diseases are characterized by protein misfolding and aggregation in the affected tissue. The aim of this thesis was to find genetic support for mechanisms in common for three prevalent ... LÄS MER

  3. 2. Genetic Mapping of Susceptibility Genes for Systemic Lupus Erythematosus

    Författare :Bo Johanneson; Jean Pierre Hugot; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Association analysis; Candidate gene; Complex disease; Genome scan; Linkage analysis; Mapping; Susceptibility genes; Systemic lupus erythematosus; Genetik; Genetics; Genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a complex autoimmune disease with unknown etiology. The aim of this thesis was to identify susceptibility regions through genetic mapping, using model-based linkage analysis on nuclear and extended SLE multicase families. LÄS MER

  4. 3. Susceptibility genes in systemic lupus erythematosus

    Författare :Anna Hellquist; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a complex autoimmune disease for which the incidence and prevalence vary between populations and also between males and females. SLE is characterized by production of pathogenic autoantibodies against nuclear antigens due to a breakdown in self-tolerance and the pathogenesis is associated with the formation of immune complexes, followed by tissue inflammation in multiple organs, such as the skin, joints, heart and kidneys. LÄS MER

  5. 4. Identification of susceptibility genes for dyslexia

    Författare :Heidi Anthoni; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Developmental dyslexia, also known as specific reading disability, is characterized by persistent difficulties in learning to read and spell in spite of adequate intelligence, education, social environment, and normal senses. It is the most common learning disability affecting 5-10% of school-aged children. LÄS MER

  7. 5. The Complex Genetics behind Neurodegeneration and Susceptibility to Parkinson’s disease

    Författare :Michael Jewett; Translationell Neurogenetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson’s Disease; α-synuclein; Dopaminergic Neurons; Susceptibility; GSTA4; Vra1; rAAV; 6-OHDA; En1; Linkage analysis; Congenic strains; Axonal swellings; QTL; Risk factors; Neuroprotection; Astrocytes;

    Sammanfattning : Parkinson’s disease (PD) is the second most common neurodegenerative disorder and affects over 1% of people above the age of 65. This progressive and debilitating disease is usually thought of as a motor disease, with symptoms such as muscle rigidity, slowness of movement, and tremor at rest. LÄS MER