Sökning: "skeletal disorders"

Visar resultat 16 - 20 av 76 avhandlingar innehållade orden skeletal disorders.

  1. 16. Nestin : filament formation and expression in myogenesis and muscle disorders

    Författare :Gunnar Sjöberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Intermediate filament; nestin; desmin; vimentin; myogenesis neuromusculardisorders; rhabdomyosarcoma;

    Sammanfattning : Intermediate filaments (IF), together with microfilaments and microtubules, are the major components of the cytoskeleton of eukaryotic cells. In myogenic cells three IF proteins are expressed; desmin, vimentin and nestin. LÄS MER

  3. 17. Genetic factors predisposing to myasthenia gravis and related autoimmune disorders

    Författare :Ryan Ramanujam; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Myasthenia gravis (MG) is an autoimmune disorder in which patients experience weakness of the skeletal or ocular-bulbar muscles. In most patients, anti-AChR antibodies affect the signal across the neuromuscular junction necessary for muscular contraction. LÄS MER

  4. 18. On costochondral grafts replacing mandibular condyles in juvenile chronic arthritis. A clinical, histological and experimental study

    Författare :Börje Svensson; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; juvenile chronic arthritis; temporomandibular joints; temporomandibular disorders; costochondral grafts; growth; revascularisation; microangiography; fluorochrome labelling.;

    Sammanfattning : In children with juvenile chronic arthritis (JCA), disturbances of mandibular growth and function may result in involvement of the temporomandibular joints (TMJs). The aim of this thesis was to study the stomatognathic system in JCA children and long-term effects on facial growth of treatment comprising replacement of arthritic mandibular condyles with autogenous costochondral grafts (CCGs) during growth. LÄS MER

  5. 19. Myosin myopathy. A new disease entity

    Författare :Homa Tajsharghi; Göteborgs universitet; []
    Nyckelord :Neuromuscular disorders; Myosin myopathy; Myosin heavy chain; Myosin storage myopathy;

    Sammanfattning : By the discovery and characterization of two familial myopathies caused by mutations in myosin heavy chaingenes, we introduce a new entity within the field of neuromuscular disorders: Myosin myopathyThe first myopathy affected a family in western Sweden. Previous linkage analysis had located the gene tochromosome 17p13. LÄS MER

  7. 20. Genetic Analysis of Quantitative Traits Using Domestic Animals : A Candidate Gene and Genome Scanning Approach

    Författare :Hee-Bok Park; Leif Andersson; Stefan Marklund; Robert Fredricksson; Holger Luthman; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Domestication; horse; pig; chicken; quantitative traits; candidate gene; genome scan; PRKAG3; MC4R; selection experiment; growth; correlated response; metabolic disorders; Quantitative Trait Loci; linkage; single nucleotide polymorphisms; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Domestication has led to genetic changes that affect quantitative traits in farm animals. Both candidate gene analysis using association tests and genome scans based on linkage analysis have been performed to understand the molecular basis underlying quantitative genetic variation in horses, pigs and chickens. LÄS MER