{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:35:14Z","timestamp":1761708914717},"reference-count":93,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1998,4,1]],"date-time":"1998-04-01T00:00:00Z","timestamp":891388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,1,3]],"date-time":"2017-01-03T00:00:00Z","timestamp":1483401600000},"content-version":"vor","delay-in-days":6852,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[1998,4]]},"DOI":"10.1038\/jid.1998.3","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T14:15:42Z","timestamp":1375452942000},"page":"462-467","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Gene Therapy for Genetic Skin Disease"],"prefix":"10.1016","volume":"110","author":[{"given":"Paul A.","family":"Khavari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/jid.1998.3_bb0005","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng0394-299","article-title":"Herlitz\u2019s junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein\/kalinin (LAMININ-5)","volume":"6","author":"Aberdam","year":"1994","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0010","first-page":"209","article-title":"Characterization of point mutations in patients with X-linked ichthyosis","volume":"55","author":"Alperin","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.1998.3_bb0015","doi-asserted-by":"crossref","first-page":"49S","DOI":"10.1111\/1523-1747.ep12388591","article-title":"The genetics of ichthyosis: a primer for epidemiologists","volume":"102","author":"Bale","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0020","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1111\/1523-1747.ep12330566","article-title":"Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases","volume":"107","author":"Bale","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0025","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"2999","article-title":"Steroid sulfatase deficiency and X-linked ichthyosis","author":"Ballabio","year":"1995"},{"key":"10.1038\/jid.1998.3_bb0030","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1172\/JCI117659","article-title":"Kinetics and regulation of human keratinocyte stem cell growth in short-term primary ex vivo culture. Cooperative growth factors from psoriatic lesional T lymphocytes stimulate proliferation among psoriatic uninvolved, but not normal, stem keratinocytes","volume":"95","author":"Bata-Csorgo","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1038\/jid.1998.3_bb0035","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/nm0697-612","article-title":"Gene therapy. Progress, problems and prospects","volume":"3","author":"Blau","year":"1997","journal-title":"Nat Med"},{"key":"10.1038\/jid.1998.3_bb0040","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/nm0397-299","article-title":"Long-term control of erythropoietin secretion by doxycycline in mice transplanted with engineered primary myoblasts [see comments]","volume":"3","author":"Bohl","year":"1997","journal-title":"Nat Med"},{"key":"10.1038\/jid.1998.3_bb0045","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1126\/science.1720261","article-title":"Jr Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities [see comments]","volume":"254","author":"Bonifas","year":"1991","journal-title":"Science"},{"key":"10.1038\/jid.1998.3_bb0050","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/ng0795-363","article-title":"Mutation of a type II keratin gene (K6a) in pachyonychia congenita","volume":"10","author":"Bowden","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0055","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/0092-8674(92)90314-3","article-title":"The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes","volume":"70","author":"Cheng","year":"1992","journal-title":"Cell"},{"key":"10.1038\/jid.1998.3_bb0060","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1089\/hum.1996.7.18-2247","article-title":"Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes","volume":"7","author":"Choate","year":"1996","journal-title":"Hum Gene Ther"},{"key":"10.1038\/jid.1998.3_bb0065","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1038\/nm1196-1263","article-title":"Corrective gene transfer in the human skin disorder lamellar ichthyosis","volume":"2","author":"Choate","year":"1996","journal-title":"Nat Med"},{"key":"10.1038\/jid.1998.3_bb0070","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1089\/hum.1997.8.8-895","article-title":"Sustainability of keratinocyte gene transfer and cell survival in vivo","volume":"8","author":"Choate","year":"1997","journal-title":"Hum Gene Ther"},{"key":"10.1038\/jid.1998.3_bb0075","doi-asserted-by":"crossref","first-page":"1671","DOI":"10.1089\/hum.1997.8.14-1659","article-title":"Direct cutaneous gene delivery in a human genetic skin disease","volume":"8","author":"Choate","year":"1997","journal-title":"Hum Gene Ther"},{"key":"10.1038\/jid.1998.3_bb0080","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng0593-62","article-title":"A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa","volume":"4","author":"Christiano","year":"1993","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0085","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1006\/geno.1994.1238","article-title":"Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa","volume":"21","author":"Christiano","year":"1994","journal-title":"Genomics"},{"key":"10.1038\/jid.1998.3_bb0090","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1111\/1523-1747.ep12346246","article-title":"Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa","volume":"106","author":"Christiano","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0095","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1016\/0092-8674(91)90051-Y","article-title":"Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses","volume":"66","author":"Coulombe","year":"1991","journal-title":"Cell"},{"key":"10.1038\/jid.1998.3_bb0100","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1097\/00001622-199611000-00010","article-title":"Current progress in the gene therapy of cancer","volume":"8","author":"Davis","year":"1996","journal-title":"Curr Opin Oncol"},{"key":"10.1038\/jid.1998.3_bb0105","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nbt1297-1388","article-title":"Sustainable cutaneous gene delivery","volume":"15","author":"Deng","year":"1997","journal-title":"Nature Biotech"},{"key":"10.1038\/jid.1998.3_bb0110","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/BF00370710","article-title":"Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology","volume":"287","author":"Eady","year":"1994","journal-title":"Arch Dermatol Res"},{"key":"10.1038\/jid.1998.3_bb0115","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1001\/archderm.1981.01650120007010","article-title":"Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion","volume":"117","author":"Epstein","year":"1981","journal-title":"Arch Dermatol"},{"key":"10.1038\/jid.1998.3_bb0120","doi-asserted-by":"crossref","first-page":"8803","DOI":"10.1073\/pnas.86.22.8803","article-title":"Systemic distribution of apolipoprotein E secreted by grafts of epidermal keratinocytes: implications for epidermal function and gene therapy","volume":"86","author":"Fenjves","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/jid.1998.3_bb0125","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1089\/hum.1994.5.10-1241","article-title":"Systemic delivery of secreted protein by grafts of epidermal keratinocytes: prospects for keratinocyte gene therapy","volume":"5","author":"Fenjves","year":"1994","journal-title":"Hum Gene Ther"},{"key":"10.1038\/jid.1998.3_bb0130","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1111\/1523-1747.ep12344976","article-title":"Loss of expression of a retrovirus-transduced gene in human keratinocytes","volume":"106","author":"Fenjves","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0135","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1346-8138.1993.tb01293.x","article-title":"Keratin: a journey of three decades","volume":"20","author":"Freedberg","year":"1993","journal-title":"J Dermatol"},{"key":"10.1038\/jid.1998.3_bb0140","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1093\/hmg\/6.6.927","article-title":"A model of corrective gene transfer in X-linked ichthyosis","volume":"6","author":"Freiberg","year":"1997","journal-title":"Human Mol Genet"},{"key":"10.1038\/jid.1998.3_bb0145","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1146\/annurev.cb.11.110195.001011","article-title":"Keratins and the skin","volume":"11","author":"Fuchs","year":"1995","journal-title":"Ann Rev Cell Dev Biol"},{"key":"10.1038\/jid.1998.3_bb0150","doi-asserted-by":"crossref","first-page":"18437","DOI":"10.1074\/jbc.271.31.18437","article-title":"Functional Re-expression of laminin-5 in laminin-gamma2-deficient human keratinocytes modifies cell morphology, motility, and adhesion","volume":"271","author":"Gagnoux-Palacios","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.1998.3_bb0155","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/ng0293-180","article-title":"Towards gene therapy for haemophilia B using primary human keratinocytes","volume":"3","author":"Gerrard","year":"1993","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0160","doi-asserted-by":"crossref","first-page":"3071","DOI":"10.1096\/fasebj.5.15.1683845","article-title":"Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues","volume":"5","author":"Greenberg","year":"1991","journal-title":"Faseb J"},{"key":"10.1038\/jid.1998.3_bb0165","doi-asserted-by":"crossref","first-page":"63S","DOI":"10.1038\/jid.1994.12","article-title":"Epidermis: an attractive target tissue for gene therapy","volume":"103","author":"Greenhalgh","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0170","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/S0092-8674(00)81268-4","article-title":"Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome","volume":"85","author":"Hahn","year":"1996","journal-title":"Cell"},{"key":"10.1038\/jid.1998.3_bb0175","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/ng0695-161","article-title":"Cytokine gene expression in epidermis with biological effects following injection of naked DNA","volume":"10","author":"Hengge","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0180","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0272-2712(18)30295-6","article-title":"Gene therapy: a brief review","volume":"16","author":"Hess","year":"1996","journal-title":"Clin Lab Med"},{"key":"10.1038\/jid.1998.3_bb0185","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/ng1193-287","article-title":"A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa","volume":"5","author":"Hilal","year":"1993","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0190","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1128\/jvi.65.2.904-912.1991","article-title":"Inactivation of the Moloney murine leukemia virus long terminal repeat in murine fibroblast cell lines is associated with methylation and dependent on its chromosomal position","volume":"65","author":"Hoeben","year":"1991","journal-title":"J Virol"},{"key":"10.1038\/jid.1998.3_bb0195","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.7824952","article-title":"Mutations of keratinocyte transglutaminase in lamellar ichthyosis","volume":"267","author":"Huber","year":"1995","journal-title":"Science"},{"key":"10.1038\/jid.1998.3_bb0200","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1111\/1523-1747.ep12324122","article-title":"Lamellar ichthyosis is genetically heterogeneous \u2013 cases with normal keratinocyte transglutaminase","volume":"105","author":"Huber","year":"1995","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0205","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1126\/science.272.5268.1668","article-title":"Human homolog of patched, a candidate gene for the basal cell nevus syndrome","volume":"272","author":"Johnson","year":"1996","journal-title":"Science"},{"key":"10.1038\/jid.1998.3_bb0210","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/0092-8674(93)90251-K","article-title":"Separation of human epidermal stem cells from transit amplifying cells on the basis of differences in integrin function and expression","volume":"73","author":"Jones","year":"1993","journal-title":"Cell"},{"key":"10.1038\/jid.1998.3_bb0215","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/0092-8674(95)90453-0","article-title":"Stem cell patterning and fate in human epidermis","volume":"80","author":"Jones","year":"1995","journal-title":"Cell"},{"key":"10.1038\/jid.1998.3_bb0220","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0092-8674(00)81894-2","article-title":"Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion","volume":"88","author":"Jonkman","year":"1997","journal-title":"Cell"},{"key":"10.1038\/jid.1998.3_bb0225","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/S1357-4310(97)01143-X","article-title":"Therapeutic gene delivery to the skin","volume":"3","author":"Khavari","year":"1997","journal-title":"Mol Med Today"},{"key":"10.1038\/jid.1998.3_bb0230","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/S0733-8635(05)70412-5","article-title":"Cutaneous gene therapy","volume":"15","author":"Khavari","year":"1997","journal-title":"Dermatologic Clinics"},{"key":"10.1038\/jid.1998.3_bb0235","doi-asserted-by":"crossref","first-page":"18026","DOI":"10.1074\/jbc.270.30.18026","article-title":"Highly active soluble processed forms of the transglutaminase 1 enzyme in epidermal keratinocytes","volume":"270","author":"Kim","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1038\/jid.1998.3_bb0240","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1056\/NEJM199509283331302","article-title":"A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis [see comments]","volume":"333","author":"Knowles","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1038\/jid.1998.3_bb0245","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/BF00196781","article-title":"The molecular basis for inherited bullous diseases","volume":"74","author":"Korge","year":"1996","journal-title":"J Mol Med"},{"key":"10.1038\/jid.1998.3_bb0250","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/S0140-6736(96)90462-6","article-title":"Xeroderma pigmentosum knockouts","volume":"347","author":"Kraemer","year":"1996","journal-title":"Lancet"},{"key":"10.1038\/jid.1998.3_bb0255","first-page":"95","article-title":"Defective DNA repair in humans: clinical and molecular studies of xeroderma pigmentosum","volume":"53","author":"Kraemer","year":"1990","journal-title":"Basic Life Science"},{"key":"10.1038\/jid.1998.3_bb0260","doi-asserted-by":"crossref","first-page":"76S","DOI":"10.1111\/1523-1747.ep12399100","article-title":"Genetically modified skin to treat disease: potential and limitations","volume":"103","author":"Krueger","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0265","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/381434a0","article-title":"Long-term acceptance of skin and cardiac allografts after blocking CD40 and CD28 pathways","volume":"381","author":"Larsen","year":"1996","journal-title":"Nature"},{"key":"10.1038\/jid.1998.3_bb0270","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/ng1293-413","article-title":"Characterization of molecular defects in xeroderma pigmentosum group C","volume":"5","author":"Li","year":"1993","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0275","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1111\/1523-1747.ep12292254","article-title":"Topical application of viral vectors for epidermal gene transfer","volume":"108","author":"Lu","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0280","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng0596-70","article-title":"A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel\u2019s syndrome","volume":"13","author":"Maestrini","year":"1996","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0285","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1001\/archderm.1993.04540010035004","article-title":"The molecular genetics of basement membrane diseases","volume":"129","author":"Marinkovich","year":"1993","journal-title":"Arch Dermatol"},{"key":"10.1038\/jid.1998.3_bb0290","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/aja.1001970404","article-title":"Cellular origin of the dermalepidermal basement membrane","volume":"197","author":"Marinkovich","year":"1993","journal-title":"Dev Dyn"},{"key":"10.1038\/jid.1998.3_bb0295","first-page":"5450","article-title":"Recovery of normal DNA repair and mutagenesis in trichothiodystrophy cells after transduction of the XPD human gene","volume":"56","author":"Marionnet","year":"1993","journal-title":"Cancer Res"},{"key":"10.1038\/jid.1998.3_bb0300","doi-asserted-by":"crossref","first-page":"10371","DOI":"10.1073\/pnas.93.19.10371","article-title":"Clonal analysis of stably transduced human epidermal stem cells in culture","volume":"93","author":"Mathor","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/jid.1998.3_bb0305","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0995-83","article-title":"Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1) in generalized atrophic benign epidermolysis bullosa","volume":"11","author":"McGrath","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0310","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1111\/1523-1747.ep12340210","article-title":"Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa","volume":"106","author":"McGrath","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0315","first-page":"1787","article-title":"Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition","volume":"148","author":"McGrath","year":"1996","journal-title":"Am J Pathol"},{"key":"10.1038\/jid.1998.3_bb0320","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/ng0395-273","article-title":"Keratin 16 and keratin 17 mutations cause pachyonychia congenita","volume":"9","author":"McLean","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0325","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/1523-1747.ep12298363","article-title":"Evaluation of human skin reconstituted from composite grafts of cultured keratinocytes and human acellular dermis transplanted to athymic mice","volume":"107","author":"Medalie","year":"1996","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0330","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1093\/carcin\/17.9.1909","article-title":"Stable transformation of xeroderma pigmentosum group A cells with an XPA minigene restores normal DNA repair and mutagenesis of UV-treated plasmids","volume":"17","author":"Myrand","year":"1996","journal-title":"Carcinogenesis"},{"key":"10.1038\/jid.1998.3_bb0335","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1111\/j.1365-2133.1994.tb04972.x","article-title":"A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects","volume":"131","author":"Paige","year":"1994","journal-title":"Br J Dermatol"},{"key":"10.1038\/jid.1998.3_bb0340","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1097\/00008480-199608000-00011","article-title":"The genetic basis of hereditary blistering disorders","volume":"8","author":"Paller","year":"1996","journal-title":"Curr Opin Pediatr"},{"key":"10.1038\/jid.1998.3_bb0345","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1093\/hmg\/4.8.1391","article-title":"Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity","volume":"4","author":"Parmentier","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1038\/jid.1998.3_bb0350","doi-asserted-by":"crossref","first-page":"9333","DOI":"10.1073\/pnas.87.23.9333","article-title":"Primary structure of keratinocyte transglutaminase","volume":"87","author":"Phillips","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/jid.1998.3_bb0355","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/ng0394-293","article-title":"Mutations in the gamma 2 chain gene (LAMC2) of kalinin\/laminin 5 in the junctional forms of epidermolysis bullosa","volume":"6","author":"Pulkkinen","year":"1994","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0360","doi-asserted-by":"crossref","first-page":"9519","DOI":"10.1073\/pnas.91.20.9519","article-title":"Intradermal gene immunization: the possible role of DNA uptake in the induction of cellular immunity to viruses","volume":"91","author":"Raz","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/jid.1998.3_bb0365","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1038\/ng0294-174","article-title":"Langbein, et al: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)","volume":"6","author":"Reis","year":"1994","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0370","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1016\/0092-8674(94)90383-2","article-title":"Location of stem cells of human hair follicles by clonal analysis","volume":"76","author":"Rochat","year":"1994","journal-title":"Cell"},{"key":"10.1038\/jid.1998.3_bb0375","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1126\/science.257.5073.1128","article-title":"Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis","volume":"257","author":"Rothnagel","year":"1992","journal-title":"Science"},{"key":"10.1038\/jid.1998.3_bb0380","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1038\/ng0894-485","article-title":"Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens","volume":"7","author":"Rothnagel","year":"1994","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0385","first-page":"1146","article-title":"Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q","volume":"55","author":"Russell","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.1998.3_bb0390","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/ng0395-279","article-title":"Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis","volume":"9","author":"Russell","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0395","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1093\/hmg\/4.10.1875","article-title":"Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families","volume":"4","author":"Shamsher","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1038\/jid.1998.3_bb0400","doi-asserted-by":"crossref","first-page":"8477","DOI":"10.1073\/pnas.86.21.8477","article-title":"Molecular studies of deletions at the human steroid sulfatase locus","volume":"86","author":"Shapiro","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/jid.1998.3_bb0405","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1038\/ng0896-450","article-title":"Plectin deficiency results in muscular dystrophy with epidermolysis bullosa","volume":"13","author":"Smith","year":"1996","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0410","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1615\/CritRevEukarGeneExpr.v6.i1.30","article-title":"Gene therapy: basic concepts and recent advances","volume":"6","author":"Sokol","year":"1996","journal-title":"Crit Rev Eukaryot Gene Expr"},{"key":"10.1038\/jid.1998.3_bb0415","series-title":"The Keratinocyte Handbook","first-page":"543","article-title":"Epithelial gene therapy","author":"Taichman","year":"1994"},{"key":"10.1038\/jid.1998.3_bb0420","first-page":"209","article-title":"Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa","volume":"76","author":"Tamai","year":"1997","journal-title":"Lab Invest"},{"key":"10.1038\/jid.1998.3_bb0425","first-page":"685","article-title":"Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation","volume":"40","author":"Thacher","year":"1985","journal-title":"Transglutaminases: multifunctional crosslinking enzymes that stabilize tissues. Cell"},{"key":"10.1038\/jid.1998.3_bb0430","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng0194-106","article-title":"Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer","volume":"6","author":"Torchard","year":"1994","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0435","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF00357071","article-title":"Molecular complexity of the cutaneous basement membrane zone","volume":"23","author":"Uitto","year":"1996","journal-title":"Mol Biol Rep"},{"key":"10.1038\/jid.1998.3_bb0440","doi-asserted-by":"crossref","first-page":"39S","DOI":"10.1038\/jid.1994.8","article-title":"Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes","volume":"103","author":"Uitto","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.1998.3_bb0445","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ng0695-229","article-title":"Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia","volume":"10","author":"Vidal","year":"1995","journal-title":"Nat Genet"},{"key":"10.1038\/jid.1998.3_bb0450","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1001\/archderm.1993.01680320112015","article-title":"Keratinocyte gene therapy","volume":"129","author":"Vogel","year":"1993","journal-title":"Arch Dermatol"},{"key":"10.1038\/jid.1998.3_bb0455","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S0733-8635(18)30772-1","article-title":"Genetically transmitted, generalized disorders of cornification","volume":"5","author":"Williams","year":"1987","journal-title":"The Ichthyoses Dermatol Clin"},{"key":"10.1038\/jid.1998.3_bb0460","doi-asserted-by":"crossref","first-page":"3354","DOI":"10.1096\/fasebj.6.15.1464369","article-title":"New insights into chromatin function in transcriptional control","volume":"6","author":"Wolffe","year":"1992","journal-title":"Faseb J"},{"key":"10.1038\/jid.1998.3_bb0465","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/0092-8674(87)90447-8","article-title":"Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange","volume":"49","author":"Yen","year":"1987","journal-title":"Cell"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15400685?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15400685?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,3,31]],"date-time":"2023-03-31T02:13:24Z","timestamp":1680228804000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15400685"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,4]]},"references-count":93,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1998,4]]}},"alternative-id":["S0022202X15400685"],"URL":"https:\/\/doi.org\/10.1038\/jid.1998.3","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[1998,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Gene Therapy for Genetic Skin Disease","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/jid.1998.3","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 1998 The Society for Investigative Dermatology, Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}