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Volumn 110, Issue 4, 1998, Pages 462-467

Gene therapy for genetic skin disease

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EPIDERMOLYSIS BULLOSA; GENE TARGETING; GENE THERAPY; GENE TRANSFER; GENETIC DISORDER; GENODERMATOSIS; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; SKIN DISEASE; XERODERMA PIGMENTOSUM;

EID: 0031920038     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00157.x     Document Type: Article
Times cited : (39)

References (93)
  • 1
    • 18344413641 scopus 로고
    • Herlitz’s junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)
    • D. Aberdam M.F. Galliano J. Vailly Herlitz’s junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5) Nat Genet 6 1994 299 304
    • (1994) Nat Genet , vol.6 , pp. 299-304
    • Aberdam, D.1    Galliano, M.F.2    Vailly, J.3
  • 2
    • 1842345151 scopus 로고
    • Characterization of point mutations in patients with X-linked ichthyosis
    • E.S. Alperin L.J. Shapiro Characterization of point mutations in patients with X-linked ichthyosis Am J Hum Genet 55 1994 209
    • (1994) Am J Hum Genet , vol.55 , pp. 209
    • Alperin, E.S.1    Shapiro, L.J.2
  • 3
    • 0028366134 scopus 로고
    • The genetics of ichthyosis: a primer for epidemiologists
    • S.J. Bale S.Z. Doyle The genetics of ichthyosis: a primer for epidemiologists J Invest Dermatol 102 1994 49S 50S
    • (1994) J Invest Dermatol , vol.102 , pp. 49S-50S
    • Bale, S.J.1    Doyle, S.Z.2
  • 5
    • 0002426287 scopus 로고
    • Steroid sulfatase deficiency and X-linked ichthyosis
    • A. Ballabio L.J. Shapiro Steroid sulfatase deficiency and X-linked ichthyosis C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Bases of Inherited Disease 1995 McGraw-Hill, Health Professions Division New York 2999
    • (1995) , pp. 2999
    • Ballabio, A.1    Shapiro, L.J.2
  • 6
    • 0028842377 scopus 로고
    • 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
    • Z. Bata-Csorgo C. Hammerberg J.J. Voorhees K.D. Cooper 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 J Clin Invest 95 1995 317 327
    • (1995) J Clin Invest , vol.95 , pp. 317-327
    • Bata-Csorgo, Z.1    Hammerberg, C.2    Voorhees, J.J.3    Cooper, K.D.4
  • 7
    • 0005073592 scopus 로고    scopus 로고
    • Gene therapy. Progress, problems and prospects
    • H.M. Blau P.A. Khavari Gene therapy. Progress, problems and prospects Nat Med 3 1997 13 14
    • (1997) Nat Med , vol.3 , pp. 13-14
    • Blau, H.M.1    Khavari, P.A.2
  • 8
    • 0031040987 scopus 로고    scopus 로고
    • Long-term control of erythropoietin secretion by doxycycline in mice transplanted with engineered primary myoblasts [see comments]
    • D. Bohl N. Naffakh J.M. Heard Long-term control of erythropoietin secretion by doxycycline in mice transplanted with engineered primary myoblasts [see comments] Nat Med 3 1997 299 305
    • (1997) Nat Med , vol.3 , pp. 299-305
    • Bohl, D.1    Naffakh, N.2    Heard, J.M.3
  • 9
    • 0026345962 scopus 로고
    • Jr Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities [see comments]
    • J.M. Bonifas A.L. Rothman E.H. Epstein Jr Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities [see comments] Science 254 1991 1202 1205
    • (1991) Science , vol.254 , pp. 1202-1205
    • Bonifas, J.M.1    Rothman, A.L.2    Epstein, E.H.3
  • 11
    • 0026699760 scopus 로고
    • The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes
    • J. Cheng A.J. Syder Q.C. Yu A. Letai A.S. Paller E. Fuchs The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes Cell 70 1992 811 819
    • (1992) Cell , vol.70 , pp. 811-819
    • Cheng, J.1    Syder, A.J.2    Yu, Q.C.3    Letai, A.4    Paller, A.S.5    Fuchs, E.6
  • 13
    • 0029906097 scopus 로고    scopus 로고
    • Corrective gene transfer in the human skin disorder lamellar ichthyosis
    • K.A. Choate D.A. Medalie J.R. Morgan P.A. Khavari Corrective gene transfer in the human skin disorder lamellar ichthyosis Nat Med 2 1996 1263 1267
    • (1996) Nat Med , vol.2 , pp. 1263-1267
    • Choate, K.A.1    Medalie, D.A.2    Morgan, J.R.3    Khavari, P.A.4
  • 14
    • 0030986014 scopus 로고    scopus 로고
    • Sustainability of keratinocyte gene transfer and cell survival in vivo
    • K.A. Choate P.A. Khavari Sustainability of keratinocyte gene transfer and cell survival in vivo Hum Gene Ther 8 1997 895 901
    • (1997) Hum Gene Ther , vol.8 , pp. 895-901
    • Choate, K.A.1    Khavari, P.A.2
  • 15
    • 0031580664 scopus 로고    scopus 로고
    • Direct cutaneous gene delivery in a human genetic skin disease
    • K.A. Choate P.A. Khavari Direct cutaneous gene delivery in a human genetic skin disease Hum Gene Ther 8 1997 1671 1677
    • (1997) Hum Gene Ther , vol.8 , pp. 1671-1677
    • Choate, K.A.1    Khavari, P.A.2
  • 16
    • 0027210982 scopus 로고
    • A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
    • A.M. Christiano D.S. Greenspan G.G. Hoffman A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa Nat Genet 4 1993 62 66
    • (1993) Nat Genet , vol.4 , pp. 62-66
    • Christiano, A.M.1    Greenspan, D.S.2    Hoffman, G.G.3
  • 17
    • 0028361030 scopus 로고
    • Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa
    • A.M. Christiano G. Anhalt S. Gibbons E.A. Bauer J. Uitto Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa Genomics 21 1994 160 168
    • (1994) Genomics , vol.21 , pp. 160-168
    • Christiano, A.M.1    Anhalt, G.2    Gibbons, S.3    Bauer, E.A.4    Uitto, J.5
  • 18
    • 0029670320 scopus 로고    scopus 로고
    • Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa
    • A.M. Christiano L. Pulkkinen R.A. Eady J. Uitto Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa J Invest Dermatol 106 1996 775 777
    • (1996) J Invest Dermatol , vol.106 , pp. 775-777
    • Christiano, A.M.1    Pulkkinen, L.2    Eady, R.A.3    Uitto, J.4
  • 19
    • 0025861772 scopus 로고
    • Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses
    • P.A. Coulombe M.E. Hutton A. Letai A. Hebert A.S. Paller E. Fuchs Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses Cell 66 1991 1301 1311
    • (1991) Cell , vol.66 , pp. 1301-1311
    • Coulombe, P.A.1    Hutton, M.E.2    Letai, A.3    Hebert, A.4    Paller, A.S.5    Fuchs, E.6
  • 22
    • 0028600624 scopus 로고
    • Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology
    • R.A. Eady M.G. Dunnill Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology Arch Dermatol Res 287 1994 2 9
    • (1994) Arch Dermatol Res , vol.287 , pp. 2-9
    • Eady, R.A.1    Dunnill, M.G.2
  • 23
    • 0019842473 scopus 로고
    • Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion
    • E.H. Epstein Jr. M.L. Williams P.M. Elias Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion Arch Dermatol 117 1981 761 763
    • (1981) Arch Dermatol , vol.117 , pp. 761-763
    • Epstein, E.H.1    Williams, M.L.2    Elias, P.M.3
  • 24
    • 0024351128 scopus 로고
    • Systemic distribution of apolipoprotein E secreted by grafts of epidermal keratinocytes: implications for epidermal function and gene therapy
    • E.S. Fenjves D.A. Gordon L.K. Pershing D.L. Williams L.B. Taichman Systemic distribution of apolipoprotein E secreted by grafts of epidermal keratinocytes: implications for epidermal function and gene therapy Proc Natl Acad Sci USA 86 1989 8803 8807
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 8803-8807
    • Fenjves, E.S.1    Gordon, D.A.2    Pershing, L.K.3    Williams, D.L.4    Taichman, L.B.5
  • 25
    • 0028631085 scopus 로고
    • Systemic delivery of secreted protein by grafts of epidermal keratinocytes: prospects for keratinocyte gene therapy
    • E.S. Fenjves J. Smith S. Zaradic L.B. Taichman Systemic delivery of secreted protein by grafts of epidermal keratinocytes: prospects for keratinocyte gene therapy Hum Gene Ther 5 1994 1241 1248
    • (1994) Hum Gene Ther , vol.5 , pp. 1241-1248
    • Fenjves, E.S.1    Smith, J.2    Zaradic, S.3    Taichman, L.B.4
  • 26
    • 0029918009 scopus 로고    scopus 로고
    • Loss of expression of a retrovirus-transduced gene in human keratinocytes
    • E.S. Fenjves S.N. Yao K. Kurachi L.B. Taichman Loss of expression of a retrovirus-transduced gene in human keratinocytes J Invest Dermatol 106 1996 576 578
    • (1996) J Invest Dermatol , vol.106 , pp. 576-578
    • Fenjves, E.S.1    Yao, S.N.2    Kurachi, K.3    Taichman, L.B.4
  • 27
    • 0027281656 scopus 로고
    • Keratin: a journey of three decades
    • I.M. Freedberg Keratin: a journey of three decades J Dermatol 20 1993 321 328
    • (1993) J Dermatol , vol.20 , pp. 321-328
    • Freedberg, I.M.1
  • 29
    • 0029616073 scopus 로고
    • Keratins and the skin
    • E. Fuchs Keratins and the skin Ann Rev Cell Dev Biol 11 1995 123 153
    • (1995) Ann Rev Cell Dev Biol , vol.11 , pp. 123-153
    • Fuchs, E.1
  • 30
    • 0029744414 scopus 로고    scopus 로고
    • Functional Re-expression of laminin-5 in laminin-gamma2-deficient human keratinocytes modifies cell morphology, motility, and adhesion
    • L. Gagnoux-Palacios J. Vailly M. Durand-Clement E. Wagner J.P. Ortonne G. Meneguzzi Functional Re-expression of laminin-5 in laminin-gamma2-deficient human keratinocytes modifies cell morphology, motility, and adhesion J Biol Chem 271 1996 18437 18444
    • (1996) J Biol Chem , vol.271 , pp. 18437-18444
    • Gagnoux-Palacios, L.1    Vailly, J.2    Durand-Clement, M.3    Wagner, E.4    Ortonne, J.P.5    Meneguzzi, G.6
  • 31
    • 0027465539 scopus 로고
    • Towards gene therapy for haemophilia B using primary human keratinocytes
    • A.J. Gerrard D.L. Hudson G.G. Brownlee F.M. Watt Towards gene therapy for haemophilia B using primary human keratinocytes Nat Genet 3 1993 180 183
    • (1993) Nat Genet , vol.3 , pp. 180-183
    • Gerrard, A.J.1    Hudson, D.L.2    Brownlee, G.G.3    Watt, F.M.4
  • 32
    • 0026338017 scopus 로고
    • Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues
    • C.S. Greenberg P.J. Birckbichler R.H. Rice Transglutaminases: multifunctional cross-linking enzymes that stabilize tissues Faseb J 5 1991 3071 3077
    • (1991) Faseb J , vol.5 , pp. 3071-3077
    • Greenberg, C.S.1    Birckbichler, P.J.2    Rice, R.H.3
  • 34
    • 15844386165 scopus 로고    scopus 로고
    • Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
    • H. Hahn C. Wicking P.G. Zaphiropoulous Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome Cell 85 1996 841 851
    • (1996) Cell , vol.85 , pp. 841-851
    • Hahn, H.1    Wicking, C.2    Zaphiropoulous, P.G.3
  • 35
    • 0029053818 scopus 로고
    • Cytokine gene expression in epidermis with biological effects following injection of naked DNA
    • U.R. Hengge E.F. Chan R.A. Foster P.S. Walker J.C. Vogel Cytokine gene expression in epidermis with biological effects following injection of naked DNA Nat Genet 10 1995 161 166
    • (1995) Nat Genet , vol.10 , pp. 161-166
    • Hengge, U.R.1    Chan, E.F.2    Foster, R.A.3    Walker, P.S.4    Vogel, J.C.5
  • 36
    • 0029993404 scopus 로고    scopus 로고
    • Gene therapy: a brief review
    • P. Hess Gene therapy: a brief review Clin Lab Med 16 1996 197 211
    • (1996) Clin Lab Med , vol.16 , pp. 197-211
    • Hess, P.1
  • 37
    • 0027377608 scopus 로고
    • A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa
    • L. Hilal A. Rochat P. Duquesnoy A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa Nat Genet 5 1993 287 293
    • (1993) Nat Genet , vol.5 , pp. 287-293
    • Hilal, L.1    Rochat, A.2    Duquesnoy, P.3
  • 38
    • 0026098571 scopus 로고
    • 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
    • R.C. Hoeben A.A. Migchielsen R.C. van der Jagt H. van Ormondt A.J. van der Eb 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 J Virol 65 1991 904 912
    • (1991) J Virol , vol.65 , pp. 904-912
    • Hoeben, R.C.1    Migchielsen, A.A.2    van der Jagt, R.C.3    van Ormondt, H.4    van der Eb, A.J.5
  • 39
    • 0028947560 scopus 로고
    • Mutations of keratinocyte transglutaminase in lamellar ichthyosis
    • M. Huber I. Rettler K. Bernasconi Mutations of keratinocyte transglutaminase in lamellar ichthyosis Science 267 1995 525 528
    • (1995) Science , vol.267 , pp. 525-528
    • Huber, M.1    Rettler, I.2    Bernasconi, K.3
  • 40
    • 0028810865 scopus 로고
    • Lamellar ichthyosis is genetically heterogeneous – cases with normal keratinocyte transglutaminase
    • M. Huber I. Rettler K. Bernasconi M. Wyss D. Hohl Lamellar ichthyosis is genetically heterogeneous – cases with normal keratinocyte transglutaminase J Invest Dermatol 105 1995 653 654
    • (1995) J Invest Dermatol , vol.105 , pp. 653-654
    • Huber, M.1    Rettler, I.2    Bernasconi, K.3    Wyss, M.4    Hohl, D.5
  • 41
    • 15844381336 scopus 로고    scopus 로고
    • Human homolog of patched, a candidate gene for the basal cell nevus syndrome
    • R.L. Johnson A.L. Rothman J. Xie Human homolog of patched, a candidate gene for the basal cell nevus syndrome Science 272 1996 1668 1671
    • (1996) Science , vol.272 , pp. 1668-1671
    • Johnson, R.L.1    Rothman, A.L.2    Xie, J.3
  • 42
    • 0027195638 scopus 로고
    • Separation of human epidermal stem cells from transit amplifying cells on the basis of differences in integrin function and expression
    • P.H. Jones F.M. Watt Separation of human epidermal stem cells from transit amplifying cells on the basis of differences in integrin function and expression Cell 73 1993 713 724
    • (1993) Cell , vol.73 , pp. 713-724
    • Jones, P.H.1    Watt, F.M.2
  • 43
    • 0028888316 scopus 로고
    • Stem cell patterning and fate in human epidermis
    • P.H. Jones S. Harper F.M. Watt Stem cell patterning and fate in human epidermis Cell 80 1995 83 93
    • (1995) Cell , vol.80 , pp. 83-93
    • Jones, P.H.1    Harper, S.2    Watt, F.M.3
  • 44
    • 0030975365 scopus 로고    scopus 로고
    • Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
    • M.F. Jonkman H. Scheffer R. Stulp Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion Cell 88 1997 543 551
    • (1997) Cell , vol.88 , pp. 543-551
    • Jonkman, M.F.1    Scheffer, H.2    Stulp, R.3
  • 45
    • 0031465397 scopus 로고    scopus 로고
    • Therapeutic gene delivery to the skin
    • P.A. Khavari Therapeutic gene delivery to the skin Mol Med Today 3 1997 533 538
    • (1997) Mol Med Today , vol.3 , pp. 533-538
    • Khavari, P.A.1
  • 47
    • 0029076150 scopus 로고
    • Highly active soluble processed forms of the transglutaminase 1 enzyme in epidermal keratinocytes
    • S.Y. Kim S.I. Chung P.M. Steinert Highly active soluble processed forms of the transglutaminase 1 enzyme in epidermal keratinocytes J Biol Chem 270 1995 18026 18035
    • (1995) J Biol Chem , vol.270 , pp. 18026-18035
    • Kim, S.Y.1    Chung, S.I.2    Steinert, P.M.3
  • 48
    • 0029100239 scopus 로고
    • A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis [see comments]
    • M.R. Knowles K.W. Hohneker Z. Zhou A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis [see comments] N Engl J Med 333 1995 823 831
    • (1995) N Engl J Med , vol.333 , pp. 823-831
    • Knowles, M.R.1    Hohneker, K.W.2    Zhou, Z.3
  • 49
    • 0029865563 scopus 로고    scopus 로고
    • The molecular basis for inherited bullous diseases
    • B.P. Korge T. Krieg The molecular basis for inherited bullous diseases J Mol Med 74 1996 59 70
    • (1996) J Mol Med , vol.74 , pp. 59-70
    • Korge, B.P.1    Krieg, T.2
  • 50
    • 0030033173 scopus 로고    scopus 로고
    • Xeroderma pigmentosum knockouts
    • K.H. Kraemer Xeroderma pigmentosum knockouts Lancet 347 1996 278 279
    • (1996) Lancet , vol.347 , pp. 278-279
    • Kraemer, K.H.1
  • 51
    • 0025581738 scopus 로고
    • Defective DNA repair in humans: clinical and molecular studies of xeroderma pigmentosum
    • K.H. Kraemer S. Seetharam M.M. Seidman Defective DNA repair in humans: clinical and molecular studies of xeroderma pigmentosum Basic Life Science 53 1990 95 104
    • (1990) Basic Life Science , vol.53 , pp. 95-104
    • Kraemer, K.H.1    Seetharam, S.2    Seidman, M.M.3
  • 52
    • 0028099846 scopus 로고
    • Genetically modified skin to treat disease: potential and limitations
    • G.G. Krueger J.R. Morgan C. Jorgensen Genetically modified skin to treat disease: potential and limitations J Invest Dermatol 103 1994 76S 84S
    • (1994) J Invest Dermatol , vol.103 , pp. 76S-84S
    • Krueger, G.G.1    Morgan, J.R.2    Jorgensen, C.3
  • 53
    • 15844404353 scopus 로고    scopus 로고
    • Long-term acceptance of skin and cardiac allografts after blocking CD40 and CD28 pathways
    • C.P. Larsen E.T. Elwood D.Z. Alexander Long-term acceptance of skin and cardiac allografts after blocking CD40 and CD28 pathways Nature 381 1996 434 438
    • (1996) Nature , vol.381 , pp. 434-438
    • Larsen, C.P.1    Elwood, E.T.2    Alexander, D.Z.3
  • 54
    • 0027370825 scopus 로고
    • Characterization of molecular defects in xeroderma pigmentosum group C
    • L. Li E.S. Bales C.A. Peterson R.J. Legerski Characterization of molecular defects in xeroderma pigmentosum group C Nat Genet 5 1993 413 417
    • (1993) Nat Genet , vol.5 , pp. 413-417
    • Li, L.1    Bales, E.S.2    Peterson, C.A.3    Legerski, R.J.4
  • 56
    • 15844391073 scopus 로고    scopus 로고
    • A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome
    • E. Maestrini A.P. Monaco J.A. McGrath A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome Nat Genet 13 1996 70 77
    • (1996) Nat Genet , vol.13 , pp. 70-77
    • Maestrini, E.1    Monaco, A.P.2    McGrath, J.A.3
  • 57
    • 0027486159 scopus 로고
    • The molecular genetics of basement membrane diseases
    • M.P. Marinkovich The molecular genetics of basement membrane diseases Arch Dermatol 129 1993 1557 1565
    • (1993) Arch Dermatol , vol.129 , pp. 1557-1565
    • Marinkovich, M.P.1
  • 59
    • 0030447759 scopus 로고
    • Recovery of normal DNA repair and mutagenesis in trichothiodystrophy cells after transduction of the XPD human gene
    • C. Marionnet X. Quilliet A. Benoit J. Armier A. Sarasin A. Stary Recovery of normal DNA repair and mutagenesis in trichothiodystrophy cells after transduction of the XPD human gene Cancer Res 56 1993 5450 5456
    • (1993) Cancer Res , vol.56 , pp. 5450-5456
    • Marionnet, C.1    Quilliet, X.2    Benoit, A.3    Armier, J.4    Sarasin, A.5    Stary, A.6
  • 61
    • 0029121987 scopus 로고
    • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1) in generalized atrophic benign epidermolysis bullosa
    • J.A. McGrath B. Gatalica A.M. Christiano Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1) in generalized atrophic benign epidermolysis bullosa Nat Genet 11 1995 83 86
    • (1995) Nat Genet , vol.11 , pp. 83-86
    • McGrath, J.A.1    Gatalica, B.2    Christiano, A.M.3
  • 62
    • 0029670320 scopus 로고    scopus 로고
    • Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa
    • J.A. McGrath A.M. Christiano L. Pulkkinen R.A. Eady J. Uitto Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa J Invest Dermatol 106 1996 1157 1159
    • (1996) J Invest Dermatol , vol.106 , pp. 1157-1159
    • McGrath, J.A.1    Christiano, A.M.2    Pulkkinen, L.3    Eady, R.A.4    Uitto, J.5
  • 63
    • 0029897474 scopus 로고    scopus 로고
    • 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
    • J.A. McGrath B. Gatalica K. Li 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 Am J Pathol 148 1996 1787 1796
    • (1996) Am J Pathol , vol.148 , pp. 1787-1796
    • McGrath, J.A.1    Gatalica, B.2    Li, K.3
  • 64
    • 0028842339 scopus 로고
    • Keratin 16 and keratin 17 mutations cause pachyonychia congenita
    • W.H. McLean E.L. Rugg D.P. Lunny Keratin 16 and keratin 17 mutations cause pachyonychia congenita Nat Genet 9 1995 273 278
    • (1995) Nat Genet , vol.9 , pp. 273-278
    • McLean, W.H.1    Rugg, E.L.2    Lunny, D.P.3
  • 65
    • 0030037584 scopus 로고    scopus 로고
    • Evaluation of human skin reconstituted from composite grafts of cultured keratinocytes and human acellular dermis transplanted to athymic mice
    • D.A. Medalie S.A. Eming R.G. Tompkins M.L. Yarmush G.G. Krueger J.R. Morgan Evaluation of human skin reconstituted from composite grafts of cultured keratinocytes and human acellular dermis transplanted to athymic mice J Invest Dermatol 107 1996 121 127
    • (1996) J Invest Dermatol , vol.107 , pp. 121-127
    • Medalie, D.A.1    Eming, S.A.2    Tompkins, R.G.3    Yarmush, M.L.4    Krueger, G.G.5    Morgan, J.R.6
  • 66
    • 0029789689 scopus 로고    scopus 로고
    • Stable transformation of xeroderma pigmentosum group A cells with an XPA minigene restores normal DNA repair and mutagenesis of UV-treated plasmids
    • S.P. Myrand R.S. Topping J.C. States Stable transformation of xeroderma pigmentosum group A cells with an XPA minigene restores normal DNA repair and mutagenesis of UV-treated plasmids Carcinogenesis 17 1996 1909 1917
    • (1996) Carcinogenesis , vol.17 , pp. 1909-1917
    • Myrand, S.P.1    Topping, R.S.2    States, J.C.3
  • 67
    • 0028114846 scopus 로고
    • A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects
    • D.G. Paige G.G. Emilion P.M. Bouloux J.I. Harper A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects Br J Dermatol 131 1994 622 629
    • (1994) Br J Dermatol , vol.131 , pp. 622-629
    • Paige, D.G.1    Emilion, G.G.2    Bouloux, P.M.3    Harper, J.I.4
  • 68
    • 0029807845 scopus 로고    scopus 로고
    • The genetic basis of hereditary blistering disorders
    • A.S. Paller The genetic basis of hereditary blistering disorders Curr Opin Pediatr 8 1996 367 371
    • (1996) Curr Opin Pediatr , vol.8 , pp. 367-371
    • Paller, A.S.1
  • 69
    • 0029089776 scopus 로고
    • Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
    • L. Parmentier C. Blanchet-Bardon S. Nguyen J.F. Prud’homme L. Dubertret J. Weissenbach Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity Hum Mol Genet 4 1995 1391 1395
    • (1995) Hum Mol Genet , vol.4 , pp. 1391-1395
    • Parmentier, L.1    Blanchet-Bardon, C.2    Nguyen, S.3    Prud’homme, J.F.4    Dubertret, L.5    Weissenbach, J.6
  • 71
    • 0028180092 scopus 로고
    • Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
    • L. Pulkkinen A.M. Christiano T. Airenne H. Haakana K. Tryggvason J. Uitto Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa Nat Genet 6 1994 293 297
    • (1994) Nat Genet , vol.6 , pp. 293-297
    • Pulkkinen, L.1    Christiano, A.M.2    Airenne, T.3    Haakana, H.4    Tryggvason, K.5    Uitto, J.6
  • 72
    • 0028060149 scopus 로고
    • Intradermal gene immunization: the possible role of DNA uptake in the induction of cellular immunity to viruses
    • E. Raz D.A. Carson S.E. Parker Intradermal gene immunization: the possible role of DNA uptake in the induction of cellular immunity to viruses Proc Natl Acad Sci USA 91 1994 9519 9523
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 9519-9523
    • Raz, E.1    Carson, D.A.2    Parker, S.E.3
  • 73
    • 0028242804 scopus 로고
    • Langbein, et al: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
    • A. Reis H.C. Hennies Langbein, et al : Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) Nat Genet 6 1994 174 179
    • (1994) Nat Genet , vol.6 , pp. 174-179
    • Reis, A.1    Hennies, H.C.2
  • 74
    • 0028267236 scopus 로고
    • Location of stem cells of human hair follicles by clonal analysis
    • A. Rochat K. Kobayashi Y. Barrandon Location of stem cells of human hair follicles by clonal analysis Cell 76 1994 1063 1073
    • (1994) Cell , vol.76 , pp. 1063-1073
    • Rochat, A.1    Kobayashi, K.2    Barrandon, Y.3
  • 75
    • 0026781694 scopus 로고
    • Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
    • J.A. Rothnagel A.M. Dominey L.D. Dempsey Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis Science 257 1992 1128 1130
    • (1992) Science , vol.257 , pp. 1128-1130
    • Rothnagel, J.A.1    Dominey, A.M.2    Dempsey, L.D.3
  • 76
    • 0027935777 scopus 로고
    • Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
    • J.A. Rothnagel H. Traupe S. Wojcik Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens Nat Genet 7 1994 485 490
    • (1994) Nat Genet , vol.7 , pp. 485-490
    • Rothnagel, J.A.1    Traupe, H.2    Wojcik, S.3
  • 79
    • 0028864458 scopus 로고
    • Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
    • M.K. Shamsher H.A. Navsaria H.P. Stevens Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families Hum Mol Genet 4 1995 1875 1881
    • (1995) Hum Mol Genet , vol.4 , pp. 1875-1881
    • Shamsher, M.K.1    Navsaria, H.A.2    Stevens, H.P.3
  • 81
    • 9344248374 scopus 로고    scopus 로고
    • Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
    • F.J. Smith R.A. Eady I.M. Leigh Plectin deficiency results in muscular dystrophy with epidermolysis bullosa Nat Genet 13 1996 450 457
    • (1996) Nat Genet , vol.13 , pp. 450-457
    • Smith, F.J.1    Eady, R.A.2    Leigh, I.M.3
  • 83
    • 0002389450 scopus 로고
    • Epithelial gene therapy
    • L.B. Taichman Epithelial gene therapy I. Leigh B. Lane F. Watt The Keratinocyte Handbook 1994 Cambridge University Press Cambridge 543
    • (1994) , pp. 543
    • Taichman, L.B.1
  • 84
    • 0031052795 scopus 로고    scopus 로고
    • Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa
    • K. Tamai A. Ishida-Yamamoto S. Matsuo Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa Lab Invest 76 1997 209 217
    • (1997) Lab Invest , vol.76 , pp. 209-217
    • Tamai, K.1    Ishida-Yamamoto, A.2    Matsuo, S.3
  • 86
    • 0028359660 scopus 로고
    • Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer
    • D. Torchard C. Blanchet-Bardon O. Serova Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer Nat Genet 6 1994 106 110
    • (1994) Nat Genet , vol.6 , pp. 106-110
    • Torchard, D.1    Blanchet-Bardon, C.2    Serova, O.3
  • 87
    • 0030458029 scopus 로고    scopus 로고
    • Molecular complexity of the cutaneous basement membrane zone
    • J. Uitto L. Pulkkinen Molecular complexity of the cutaneous basement membrane zone Mol Biol Rep 23 1996 35 46
    • (1996) Mol Biol Rep , vol.23 , pp. 35-46
    • Uitto, J.1    Pulkkinen, L.2
  • 88
    • 0027962337 scopus 로고
    • Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes
    • J. Uitto L. Pulkkinen A.M. Christiano Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes J Invest Dermatol 103 1994 39S 46S
    • (1994) J Invest Dermatol , vol.103 , pp. 39S-46S
    • Uitto, J.1    Pulkkinen, L.2    Christiano, A.M.3
  • 89
    • 0028989243 scopus 로고
    • Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
    • F. Vidal D. Aberdam C. Miquel Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia Nat Genet 10 1995 229 234
    • (1995) Nat Genet , vol.10 , pp. 229-234
    • Vidal, F.1    Aberdam, D.2    Miquel, C.3
  • 90
    • 0027442656 scopus 로고
    • Keratinocyte gene therapy
    • J.C. Vogel Keratinocyte gene therapy Arch Dermatol 129 1993 1478 1483
    • (1993) Arch Dermatol , vol.129 , pp. 1478-1483
    • Vogel, J.C.1
  • 91
    • 0023124882 scopus 로고
    • Genetically transmitted, generalized disorders of cornification
    • M.L. Williams P.M. Elias Genetically transmitted, generalized disorders of cornification The Ichthyoses Dermatol Clin 5 1987 155 178
    • (1987) The Ichthyoses Dermatol Clin , vol.5 , pp. 155-178
    • Williams, M.L.1    Elias, P.M.2
  • 92
    • 0027076835 scopus 로고
    • New insights into chromatin function in transcriptional control
    • A.P. Wolffe New insights into chromatin function in transcriptional control Faseb J 6 1992 3354 3361
    • (1992) Faseb J , vol.6 , pp. 3354-3361
    • Wolffe, A.P.1
  • 93
    • 0023662270 scopus 로고
    • Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange
    • P.H. Yen E. Allen B. Marsh T. Mohandas N. Wang R.T. Taggart L.J. Shapiro Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange Cell 49 1987 443 454
    • (1987) Cell , vol.49 , pp. 443-454
    • Yen, P.H.1    Allen, E.2    Marsh, B.3    Mohandas, T.4    Wang, N.5    Taggart, R.T.6    Shapiro, L.J.7


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