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  • 1
    Electronic Resource
    Electronic Resource
    Animal Models with Heritable Defects in the Formation and/or Degradation of Collagen Fibrils (1985)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 460 (1985), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1985.tb51212.x
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  • 2
    Electronic Resource
    Electronic Resource
    Changes in distribution of elastin and elastin receptor during intimal cushion formation in the ductus arteriosus (1990)
    Springer
    Anatomy and embryology 182 (1990), S. 473-480 
    Details
    ISSN: 1432-0568
    Keywords: Ductus arteriosus ; Intimal thickening ; Intimal cushions ; Elastin ; Elastin receptor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Changes in distribution of elastin and elastin receptor were studied during maturation of the ductus arteriosus. In this vessel intimal thickening is a normal process. It starts with separation of endothelial cells from the internal elastic lamina by the formation of a wide subendothelial region, followed by an increase in number of radially orientated cells in the inner media and subendothelial region. For the first time the nature of these originally inner media cells could be definitely determined as being derived from smooth muscle cells. Areas rich in these modified smooth muscle cells contained less elastin as compared with regions rich in circularly orientated smooth muscle cells. The internal elastic lamina had disappeared underneath intimal cushions of the canine ductus arteriosus, whereas in the fetal human ductus arteriosus, splitting of the internal elastic lamina was observed. Elastin was not present underneath separated endothelial cells, which suggests that these cells do not synthesize elastin, at least not after separation. Both smooth muscle cells and endothelial cells demonstrated the presence of the elastin receptor. Changes in its distribution were not observed. The temporal and spatial association between the altering distribution of elastin and the absence of normal cushion formation in the persistent ductus arteriosus suggests a role of the elastin receptor in the process of intimal thickening.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00178912
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    XX sex reversal in the American cocker spaniel dog: phenotypic expression and inheritance (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 23-30 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This study was conducted to define the range of phenotypic expression and mode of inheritance of XX sex reversal in the cocker spaniel dog. Breeding experiments produced F1, F1BC, and F2 generations in which 29 XX true hermaphrodites and 3 XX males were defined by chromosome constitution, serial histologic sections of the gonads, and examination of the internal and external genitalia. In XX true hermaphrodites, the most common combination of gonads was bilateral ovotestes, followed by ovotestis and ovary, then ovotestis and testis. The amount of testicular tissue in the two gonads was closely correlated within each true hermaphrodite. The distribution of testicular tissue within ovotestes of true hermaphrodites was consistent with the hypothesis that testicular differentiation is initiated in the center of the gonad and spreads outward. XX males had bilateral aspermatogenic testes and the internal ducts and external genitalia were more masculinized than in true hermaphrodites. Results of breeding experiments are consistent with autosomal recessive inheritance, the affected phenotype being expressed only in dogs with an XX chromosome constitution. The phenotypic expression and mode of inheritance of this disorder is compared to XX sex reversal in humans and other animals.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451450
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  • 4
    Electronic Resource
    Electronic Resource
    Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice (1989)
    Springer
    Biochemical genetics 27 (1989), S. 47-58 
    Details
    ISSN: 1573-4927
    Keywords: organic aciduria ; BALB/cByJ ; mouse genetics ; butyryl CoA dehydrogenase ; short-chain fatty acid metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract A metabolic screening program of inbred strains of mice has detected a marked organic aciduria in the BALB/cByJ strain. Gas chromatographic and mass spectrometric analysis identified large quantities ofn-butyrylglycine plus lesser quantities of ethylmalonic acid. Crosses with the nonexcreting C57BL/6J strain indicate that this condition is inherited as an autosomal recessive trait. Independently from this screening a variant with no detectable enzyme activity of butyryl CoA dehydrogenase (BCD) in liver and kidney of the BALB/cByJ strain but not other BALB/c sublines was discovered. Data from a three-point cross indicated that the null variant maps to the structural locus for the enzyme,Bcd-1, on chromosome 5. The findings indicate that a mutation at or nearBcd-1 in the BALB/cByJ strain resulted in a biochemical abnormality manifest as the BCD deficiency. It is concluded that accumulation of butyryl CoA due to a block in the oxidation of short-chain fatty acids results in an overproduction of organic metabolites leading to the observed organic aciduria. The fact that other BALB/c substrains do not exhibit this abnormality further suggests that this disorder reflects subline divergence within the BALB/c family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00563017
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  • 5
    Electronic Resource
    Electronic Resource
    Anchoring of canine linkage groups with chromosome-specific markers (1999)
    Springer
    Mammalian genome 10 (1999), S. 814-823 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. A high-resolution genetic map with polymorphic markers spaced frequently throughout the genome is a key resource for identifying genes that control specific traits or diseases. The lack of rigorous selection against genetic disorders has resulted in many breeds of dog suffering from a very high frequency of genetic diseases, which tend to be breed-specific and usually inherited as autosomal recessive or apparently complex genetic traits. Many of these closely resemble human genetic disorders in their clinical and pathologic features and are likely to be caused by mutations in homologous genes. To identify loci important in canine disease genes, as well as traits associated with morphological and behavioral variation, we are developing a genetic map of the canine genome. Here we report on an updated version of the canine linkage map, which includes 341 mapped markers distributed over the X and 37 autosomal linkage groups. The average distance between markers on the map is 9.0 cM, and the linkage groups provide estimated coverage of over 95% of the genome. Fourteen linkage groups contain either gene-associated or anonymous markers localized to cosmids that have been assigned to specific canine chromosomes by FISH. These 14 linkage groups contain 150 microsatellite markers and allow us to assign 40% of the linkage groups to specific canine chromosomes. This new version of the map is of sufficient density and characterization to initiate mapping of traits of interest.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003359901096
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    An integrated linkage-radiation hybrid map of the canine genome (2000)
    Springer
    Mammalian genome 11 (2000), S. 120-130 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Purebred dogs are a unique resource for dissecting the molecular basis of simple and complex genetic diseases and traits. As a result of strong selection for physical and behavioral characteristics among the 300 established breeds, modern dogs are characterized by high levels of interbreed variation, complemented by significant intrabreed homogeneity. A high-resolution map of the canine genome is necessary to exploit the mapping power of this unusual resource. We describe here the integration of an expanded canine radiation hybrid map, comprised of 600 markers, with the latest linkage map of 341 markers, to generate a map of 724 markers—the densest map of the canine genome described to date. Through the inclusion of 217 markers on both the linkage and RH maps, the 77 RH groups are reduced to 44 syntenic groups, thus providing comprehensive coverage of most of the canine genome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003350010024
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