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American Saddlebred

The Experts below are selected from a list of 102 Experts worldwide ranked by ideXlab platform

R B Ennis – 1st expert on this subject based on the ideXlab platform

  • partial deletion of the lama3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred horse
    Animal Genetics, 2009
    Co-Authors: K T Graves, P J Henney, R B Ennis

    Abstract:

    Summary

    Laminin 5 is a heterotrimeric basement membrane protein integral to the structure and function of the dermal–epidermal junction. It consists of three glycoprotein subunits: the α3, β3 and γ2 chains, which are encoded by the LAMA3, LAMB3 and LAMC2 genes respectively. A mutation in any of these genes results in the condition known as hereditary junctional epidermolysis bullosa (JEB). A 6589-bp deletion spanning exons 24–27 was found in the LAMA3 gene in American Saddlebred foals born with the skin-blistering condition epitheliogenesis imperfecta. The deletion confirms that this autosomal recessive condition in the American Saddlebred Horse can indeed be classified as JEB and corresponds to Herlitz JEB in humans. A diagnostic test was developed and nine of 175 randomly selected American Saddlebred foals from the 2007 foal crop were found to be carriers of the mutation (frequency of 0.026).

E G Cothran – 2nd expert on this subject based on the ideXlab platform

  • the epitheliogenesis imperfecta locus maps to equine chromosome 8 in American Saddlebred horses
    Cytogenetic and Genome Research, 2003
    Co-Authors: L D Lieto, E G Cothran

    Abstract:

    Epitheliogenesis imperfecta (EI) is a hereditary junctional mechanobullous disease that occurs in newborn American Saddlebred foals. The pathological signs of epitheliogenesis imperfecta closely match

  • equine epitheliogenesis imperfecta in two American Saddlebred foals is a lamina lucida defect
    Veterinary Pathology, 2002
    Co-Authors: Louis D Lieto, T W Swerczek, E G Cothran

    Abstract:

    Necropsy of two American Saddlebred fillies diagnosed with epitheliogenesis imperfecta (EI) revealed missing patches of epithelium of the skin and oral mucosa as well as dental abnormalities. Examination of the digestive tract did not reveal signs of pyloric atresia in either foal. Histopathologic examination revealed separation of the epidermis from the dermis. In both foals a division within the lamina lucida of the basal lamina was observed by transmission electron microscopy. In comparison with an age-specific control, the ultrastructure of intact skin from the EI-affected foals showed abnormal hemidesmosomes, which lacked a subbasal plate. The morphological and ultrastructural defects observed in the EI-affected American Saddlebred foals were similar to those observed in Herlitz junctional epidermolysis bullosa-affected human newborns, which is caused by a defect in one of the subunits of laminin-5. The close similarity of lesions of the human and equine diseases suggests that EI may be caused by a l…

  • brief communications and case reports equine epitheliogenesis imperfecta in two American Saddlebred foals is a lamina lucida defect
    , 2002
    Co-Authors: L D Lieto, E G Cothran

    Abstract:

    Necropsy of two American Saddlebred fillies diagnosed with epitheliogenesis imperfecta (EI) revealed missing patches of epithelium of the skin and oral mucosa as well as dental abnormalities. Examination of the digestive tract did not reveal signs of pyloric atresia in either foal. Histopathologic examination revealed separation of the epidermis from the dermis. In both foals a division within the lamina lucida of the basal lamina was observed by transmission electron microscopy. In comparison with an age-specific control, the ultrastructure of intact skin from the EI-affected foals showed abnormal hemidesmosomes, which lacked a subbasal plate. The morphological and ultrastructural defects observed in the EI-affected American Saddlebred foals were similar to those observed in Herlitz junctional epidermolysis bullosa-affected human newborns, which is caused by a defect in one of the subunits of laminin-5. The close similarity of lesions of the human and equine diseases suggests that EI may be caused by a laminin-5 defect.

K T Graves – 3rd expert on this subject based on the ideXlab platform

  • partial deletion of the lama3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred horse
    Animal Genetics, 2009
    Co-Authors: K T Graves, P J Henney, R B Ennis

    Abstract:

    Summary

    Laminin 5 is a heterotrimeric basement membrane protein integral to the structure and function of the dermal–epidermal junction. It consists of three glycoprotein subunits: the α3, β3 and γ2 chains, which are encoded by the LAMA3, LAMB3 and LAMC2 genes respectively. A mutation in any of these genes results in the condition known as hereditary junctional epidermolysis bullosa (JEB). A 6589-bp deletion spanning exons 24–27 was found in the LAMA3 gene in American Saddlebred foals born with the skin-blistering condition epitheliogenesis imperfecta. The deletion confirms that this autosomal recessive condition in the American Saddlebred Horse can indeed be classified as JEB and corresponds to Herlitz JEB in humans. A diagnostic test was developed and nine of 175 randomly selected American Saddlebred foals from the 2007 foal crop were found to be carriers of the mutation (frequency of 0.026).