Sökning: "genetic disease models"

Visar resultat 26 - 30 av 289 avhandlingar innehållade orden genetic disease models.

  1. 26. Synaptic elimination and the complement system in Alzhaimer's disease

    Författare :Jonny Daborg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Synapse; Alzheimer s disease; Genetics; CSF; Complement; RAGE;

    Sammanfattning : The mechanisms behind Alzheimer’s disease (AD) are largely unknown. The disease is to a large extent hereditary, and the best pathophysiological correlate to the severity of the symptoms is loss of synapses. LÄS MER

  3. 27. Beta Cell Function: from Human Genetics to Animal Models

    Författare :Martins Kalis; Diabetes - immunovirologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; animal model; Dicer1; genetics; genetic association; single nucleotide polymorphism; SNP; INS-1E; AAT; FOXP3; beta cell function; insulin secretion; FFAR1; insulin; T2D; glucose; T1D;

    Sammanfattning : Beta cell function is an important factor in the development of both Type 1 (T1D) and Type 2 (T2D) diabetes mellitus. T1D is characterized by a primary defect in insulin secretion due to the immune-mediated beta cell destruction, however, the more common T2D beside insulin resistance also include impaired beta cell function as a consequence to abnormal glucose homeostasis. LÄS MER

  4. 28. 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

  5. 29. Genetic regulation of autoantibodies in arthritis : lessons from mouse models

    Författare :Bruno Raposo; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Autoimmune diseases such as rheumatoid arthritis (RA) or multiple sclerosis (MS) are commonly regarded as complex or multifactorial diseases. This complexity regards to effector mechanisms involved in pathologic manifestations, and also to the diversity of genetic and environmental factors that predispose individuals to such diseases. LÄS MER

  7. 30. Pointwise and Genomewide Significance Calculations in Gene Mapping through Nonparametric Linkage Analysis: Theory, Algorithms and Applications

    Författare :Lars Ängquist; Matematisk statistik; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; programming; actuarial mathematics; Statistik; cytogenetics; Genetik; cytogenetik; Mathematics; Matematik; Statistics; operations research; Genetics; ROC curves; conditioning loci; optimal score functions; noncentrality parameter; cost adjusted relative efficiency; exponential tilting; importance sampling; Monte Carlo simulation; normal approximation; crossover rate; process maximum; analytical approximation; significance calculations; NPL score; conditional linkage analysis; two-locus linkage analysis; Allele sharing; aktuariematematik; operationsanalys; programmering; gene-gene interaction; composite hypotheses; genetic disease models; classes of score functions; nonparametric linkage analysis;

    Sammanfattning : In linkage analysis or, in a wider sense, gene mapping one searches for disease loci along a genome. This is done by observing so called marker genotypes (alleles) and phenotypes (affecteds/unaffecteds) of a pedigree set, i.e. LÄS MER