{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:21:06Z","timestamp":1790871666587,"version":"4.1.0"},"reference-count":49,"publisher":"National Academy of Sciences","issue":"9","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2001,4,24]]},"abstract":"<jats:p>\n                    The blistering disorder, lethal junctional epidermolysis bullosa\n (JEB), can result from mutations in the\n                    <jats:italic>LAMB3<\/jats:italic>\n                    gene,\n which encodes laminin 5 \u03b23 (\u03b23). Appropriate expression of LAM\u03b23\n in JEB skin tissue could potentially ameliorate the symptoms of the\n underlying disease. To explore the utility of this therapeutic\n approach, primary keratinocytes from six unrelated JEB patients were\n transduced with a retroviral vector encoding \u03b23 and used to\n regenerate human skin on severe combined immunodeficient (SCID) mice.\n Tissue regenerated from \u03b23-transduced JEB keratinocytes produced\n phenotypically normal skin characterized by sustained \u03b23 expression\n and the formation of hemidesmosomes. Additionally, \u03b23 gene transfer\n corrected the distribution of a number of important basement membrane\n zone proteins including BPAG2, integrins \u03b24\/\u03b21, and\n laminins \u03b13\/\u03b32. Skin produced from \u03b23-negative (\u03b23[\u2212]) JEB\n cells mimicked the hallmarks of the disease state and did not exhibit\n any of the aforementioned traits. Therefore, by effecting therapeutic\n gene transfer to \u03b23-deficient primary keratinocytes, it is possible\n to produce healthy, normal skin tissue\n                    <jats:italic>in vivo<\/jats:italic>\n                    . These\n data support the utility of gene therapy for JEB and highlight the\n potential for gene delivery in the treatment of human genetic skin\n disease.\n                  <\/jats:p>","DOI":"10.1073\/pnas.091484998","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:37:36Z","timestamp":1027679856000},"page":"5193-5198","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":111,"title":["<i>In vivo<\/i>\n                    restoration of laminin 5 \u03b23 expression and function in junctional epidermolysis bullosa"],"prefix":"10.1073","volume":"98","author":[{"given":"Paul B.","family":"Robbins","sequence":"first","affiliation":[{"name":"Veterans Affairs Hospitals, Palo Alto Healthcare System, Palo Alto,\r CA 94025; and Program in Epithelial Biology, Stanford University School\r of Medicine, Stanford, CA 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