Sökning: "multiple epiphyseal dysplasia"

Hittade 2 avhandlingar innehållade orden multiple epiphyseal dysplasia.

  1. 1. Clinical and genetic studies of three inherited skeletal disorders

    Författare :Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal disorders; osteochondritis dissecans; ACAN-gene; multiple epiphyseal dysplasia; brachydactyly type A1; IHH-gene; Medical genetics; Medicinsk genetik; klinisk genetik; Clinical Genetics;

    Sammanfattning : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. LÄS MER

  3. 2. Cartilage Oligomeric Matrix Protein (COMP). Functions in collagen binding and assembly

    Författare :Krisztina Rosenberg; Institutionen för experimentell medicinsk vetenskap; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical biology; Klinisk biologi;

    Sammanfattning : Connective tissues contain a prominent extracellular matrix that provides mechanical and physical properties. This extracellular matrix contains as a major constituent a network of collagen fibres. These are composed of collagen fibrils, which in turn are assembled from many collagen molecules aligned parallel to each other. Several proteins, e. LÄS MER