The Experts below are selected from a list of 102 Experts worldwide ranked by ideXlab platform
R B Ennis - One of the best experts on this subject based on the ideXlab platform.
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partial deletion of the lama3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred horse
Animal Genetics, 2009Co-Authors: K T Graves, P J Henney, R B EnnisAbstract: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 - One of the best experts on this subject based on the ideXlab platform.
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the epitheliogenesis imperfecta locus maps to equine chromosome 8 in American Saddlebred horses
Cytogenetic and Genome Research, 2003Co-Authors: L D Lieto, E G CothranAbstract:Epitheliogenesis imperfecta (EI) is a hereditary junctional mechanobullous disease that occurs in newborn American Saddlebred foals. The pathological signs of epitheliogenesis imperfecta closely match
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equine epitheliogenesis imperfecta in two American Saddlebred foals is a lamina lucida defect
Veterinary Pathology, 2002Co-Authors: Louis D Lieto, T W Swerczek, E G CothranAbstract: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...
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brief communications and case reports equine epitheliogenesis imperfecta in two American Saddlebred foals is a lamina lucida defect
2002Co-Authors: L D Lieto, E G CothranAbstract: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 - One of the best experts on this subject based on the ideXlab platform.
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partial deletion of the lama3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred horse
Animal Genetics, 2009Co-Authors: K T Graves, P J Henney, R B EnnisAbstract: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).
Stefano Capomaccio - One of the best experts on this subject based on the ideXlab platform.
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First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse
BMC Veterinary Research, 2015Co-Authors: Katia Cappelli, Chiara Brachelente, Fabrizio Passamonti, Alessandro Flati, Maurizio Silvestrelli, Stefano CapomaccioAbstract:Background Epitheliogenesis imperfecta in horses was first recognized at the beginning of the 20th century when it was proposed that the disease could have a genetic cause and an autosomal recessive inheritance pattern. Electron microscopy studies confirmed that the lesions were characterized by a defect in the lamina propria and the disease was therefore reclassified as epidermolysis bullosa. Molecular studies targeted two mutations affecting genes involved in dermal–epidermal junction: an insertion in LAMC2 in Belgians and other draft breeds and one large deletion in LAMA3 in American Saddlebred.
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First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse
BMC Veterinary Research, 2015Co-Authors: Katia Cappelli, Chiara Brachelente, Fabrizio Passamonti, Alessandro Flati, Maurizio Silvestrelli, Stefano CapomaccioAbstract:Background Epitheliogenesis imperfecta in horses was first recognized at the beginning of the 20th century when it was proposed that the disease could have a genetic cause and an autosomal recessive inheritance pattern. Electron microscopy studies confirmed that the lesions were characterized by a defect in the lamina propria and the disease was therefore reclassified as epidermolysis bullosa. Molecular studies targeted two mutations affecting genes involved in dermal–epidermal junction: an insertion in LAMC2 in Belgians and other draft breeds and one large deletion in LAMA3 in American Saddlebred. Case presentation A mechanobullous disease was suspected in a newborn, Italian draft horse foal, which presented with multifocal to coalescing erosions and ulceration on the distal extremities. Histological examination of skin biopsies revealed a subepidermal cleft formation and transmission electron microscopy demonstrated that the lamina densa of the basement membrane remained attached to the dermis. According to clinical, histological and ultrastructural findings, a diagnosis of junctional epidermolysis bullosa (JEB) was made. Genetic tests confirmed the presence of 1368insC in LAMC2 in the foal and its relatives. Conclusion This is the first report of JEB in Italy. The disease was characterized by typical macroscopic, histologic and ultrastructural findings. Genetic tests confirmed the presence of the 1368insC in LAMC2 in this case: further investigations are required to assess if the mutation could be present at a low frequency in the Italian draft horse population. Atypical breeding practices are responsible in this case and played a role as odds enhancer for unfavourable alleles. Identification of carriers is fundamental in order to prevent economic loss for the horse industry.
P J Henney - One of the best experts on this subject based on the ideXlab platform.
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partial deletion of the lama3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred horse
Animal Genetics, 2009Co-Authors: K T Graves, P J Henney, R B EnnisAbstract: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).
