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http://purl.uniprot.org/citations/12230513http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12230513http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12230513http://www.w3.org/2000/01/rdf-schema#comment"Recent achievements in the genetic correction of keratinocytes isolated from patients with junctional epidermolysis bullosa have paved the way to a gene therapy approach for the disease. Because gene therapy protocols require preclinical validation in animals, we have characterized spontaneous animal models of junctional epidermolysis bullosa. In this study we have elucidated the genetic basis of the hereditary junctional mechanobullous disease in the Belgian horse, a condition characterized by blistering of the skin and mouth epithelia, and exungulation (loss of the hoof). Immunofluorescence analysis associated the condition to the absent expression of the gamma2 chain of laminin 5 and designated Lamc2 as the candidate gene. Comparative analysis of the nucleotide sequence of the full-length gamma2 cDNA isolated by reverse transcription polymerase chain reaction amplification of total RNA purified from the epithelium of a junctional epidermolysis bullosa foal and a healthy control disclosed a homozygous basepair insertion (1368insC) in the affected animal. Mutation 1368insC results in a downstream premature termination codon and is predicted to cause absent expression of the laminin gamma2 polypeptide. Our results also show that: (i) the horse junctional epidermolysis bullosa genetically corresponds to the severe Herlitz form of junctional epidermolysis bullosa in man; (ii) the amino acid sequence and structure of the horse laminin gamma2 chain are virtually identical to the human counterpart; (iii) the moderate eruption of skin blisters in the affected animals with respect to the human Herlitz junctional epidermolysis bullosa patients correlates with the protection provided by hair. Our observations suggest that the affected foals are a convenient source of epithelial cells from tissues that cannot be obtained from human junctional epidermolysis bullosa patients, and imply that hairless strains of animals with recessive skin disorders would be the best models for in vivo gene therapy approaches to skin blistering diseases."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.org/dc/terms/identifier"doi:10.1046/j.1523-1747.2002.01852.x"xsd:string
http://purl.uniprot.org/citations/12230513http://purl.org/dc/terms/identifier"doi:10.1046/j.1523-1747.2002.01852.x"xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Charlesworth A."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Charlesworth A."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Baird J."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Baird J."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Meneguzzi G."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Meneguzzi G."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Ortonne J.-P."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Ortonne J.-P."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Linder K."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Linder K."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Spirito F."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/author"Spirito F."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/date"2002"xsd:gYear
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/date"2002"xsd:gYear
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/name"J. Invest. Dermatol."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/name"J. Invest. Dermatol."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/pages"684-691"xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/pages"684-691"xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/title"Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse."xsd:string
http://purl.uniprot.org/citations/12230513http://purl.uniprot.org/core/title"Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse."xsd:string
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