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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 131 (1979), S. 237-245 
    ISSN: 1432-1076
    Keywords: Cartilage ; Chondrodysplasia ; Growth ; Link-proteins ; Proteoglycan aggregation ; Baboon
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Baboon and human articular and growth cartilage was extracted with 4M guanidinium chloride in the presence of proteolysis inhibitors. After dialysis against 8 M urea pH 6.8 the proteins were separated from proteoglycans by ion-exchange chromatography. The concentrated and reduced protein fractions was analyzed by SDS-PAGE. Bands corresponding to collagen and to 6 major non-collegenous proteins were found. Two of the latter were identified with the link-proteins. By using small columns and microconcentration procedures, a gel-electrophoretic analysis of link-proteins extracted from small pieces of cartilage was performed and ten cases of osteochondrodysplasias were studied. No abnormalities were detected in the following syndromes: achondroplasia, diastrophic dwarfism, thanatophoric dwarfism, Jeune disease, spondyloepiphyseal dysplasia congenita, Kozlowski syndrome, osteogenesis imperfecta, polyepiphyseal dysplasia with diabetes mellitus.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 221-225 
    ISSN: 1432-1076
    Keywords: Pseudoachondroplasia ; Proteoglycan ; Cartilage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Histochemical, immunohistochemical, electron microscopical and microchemical studies were performed on growth cartilage biopsies in 4 cases of pseudoachondroplasia and in 4 controls. An accumulation of a non collagenous protein material into the rough endoplasmic reticulum of chondrocytes and the missing of a proteoglycan population of the cartilage were detected. The accumulated material was stained with antibodies against the core proteins of proteoglycans. In pseudoachondroplasia, an abnormal synthesized or processed protein core of a proteoglycan population is not properly transfered to the Golgi system.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 147 (1988), S. 408-411 
    ISSN: 1432-1076
    Keywords: Chondrodysplasia ; Cartilage ; Lethal chondrodysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Four cases of a sublethal form of chondrodysplasia are reported. The micromelic dwarfism is severe and on X-ray pictures the most striking feature is the shape of the lower femoral epiphysis, which is relatively well developed and rounded. The mode of inheritance is presumbly autosomal recessive.
    Type of Medium: Electronic Resource
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