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Volumn 46, Issue 8, 2007, Pages 781-794

Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GENE PRODUCT; LENTIVIRUS VECTOR; PROTEIN COL17A1; PROTEIN ITGB4; PROTEIN LAMB3; RETROVIRUS VECTOR; UNCLASSIFIED DRUG;

EID: 34547432585     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2007.03307.x     Document Type: Conference Paper
Times cited : (14)

References (147)
  • 2
    • 0010335604 scopus 로고    scopus 로고
    • Epidermolysis bullosa
    • In: Rimoin DL, Connor JM, Pyeritz RE, et al., eds. 4th edn. London: Churchill-Livingstone
    • Anton-Lamprecht I, Gedde-Dahl T. Epidermolysis bullosa. In: Rimoin DL, Connor JM, Pyeritz RE, et al., eds. Principles and Practice of Medical Genetics, 4th edn. London: Churchill-Livingstone, 2002: 3810-3897.
    • (2002) Principles and Practice of Medical Genetics , pp. 3810-3897
    • Anton-Lamprecht, I.1    Gedde-Dahl, T.2
  • 3
    • 12944293136 scopus 로고    scopus 로고
    • Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa
    • Fine J-D, Eady RAJ, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 2000; 42: 1051-1106.
    • (2000) J Am Acad Dermatol , vol.42 , pp. 1051-1106
    • Fine, J.-D.1    Eady, R.A.J.2    Bauer, E.A.3
  • 4
    • 0031893142 scopus 로고    scopus 로고
    • Hemidesmosomal variants of epidermolysis bullosa: Mutations in the α6β4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes
    • Pulkkinen L, Uitto J. Hemidesmosomal variants of epidermolysis bullosa: mutations in the α6β4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes. Exp Dermatol 1998; 7: 46-64.
    • (1998) Exp Dermatol , vol.7 , pp. 46-64
    • Pulkkinen, L.1    Uitto, J.2
  • 5
    • 13544263216 scopus 로고    scopus 로고
    • Progress in epidermolysis bullosa: From eponyms to molecular genetic classification
    • Uitto J, Richard G. Progress in epidermolysis bullosa: From eponyms to molecular genetic classification. Clin Dermatol 2005; 23: 33-40.
    • (2005) Clin Dermatol , vol.23 , pp. 33-40
    • Uitto, J.1    Richard, G.2
  • 6
    • 7444248879 scopus 로고    scopus 로고
    • Progress in epidermolysis bullosa: Genetic classification and clinical implications
    • Uitto J, Richard G. Progress in epidermolysis bullosa: Genetic classification and clinical implications. Am J Med Genet 2004; 131C: 61-74.
    • (2004) Am J Med Genet , vol.131 C , pp. 61-74
    • Uitto, J.1    Richard, G.2
  • 7
    • 0030845569 scopus 로고    scopus 로고
    • Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation
    • McMillan JR, McGrath JA, Pulkkinen L, et al. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. Br J Dermatol 1997; 136: 817-822.
    • (1997) Br J Dermatol , vol.136 , pp. 817-822
    • McMillan, J.R.1    McGrath, J.A.2    Pulkkinen, L.3
  • 9
    • 0029829634 scopus 로고    scopus 로고
    • Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy
    • Uitto J, Pulkkinen L, Smith FJD, et al. Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol 1996; 5: 237-246.
    • (1996) Exp Dermatol , vol.5 , pp. 237-246
    • Uitto, J.1    Pulkkinen, L.2    Smith, F.J.D.3
  • 10
    • 0030455978 scopus 로고    scopus 로고
    • Human keratin diseases: Hereditary fragility of specific epithelial tissues
    • Corden LD, McLean WH. Human keratin diseases: Hereditary fragility of specific epithelial tissues. Exp Dermatol 1996; 5: 297-307.
    • (1996) Exp Dermatol , vol.5 , pp. 297-307
    • Corden, L.D.1    McLean, W.H.2
  • 11
    • 0032965997 scopus 로고    scopus 로고
    • Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation
    • Irvine AD, McLean WH. Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 1999; 140: 815-828.
    • (1999) Br J Dermatol , vol.140 , pp. 815-828
    • Irvine, A.D.1    McLean, W.H.2
  • 12
    • 0038326541 scopus 로고    scopus 로고
    • The molecular genetics of keratin disorders
    • Smith F. The molecular genetics of keratin disorders. Am J Clin Dermatol 2003; 4: 347-364.
    • (2003) Am J Clin Dermatol , vol.4 , pp. 347-364
    • Smith, F.1
  • 13
    • 0344838390 scopus 로고    scopus 로고
    • Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients
    • Wood P, Baty DU, Lane EB, McLean WH. Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 2003; 120: 495-497.
    • (2003) J Invest Dermatol , vol.120 , pp. 495-497
    • Wood, P.1    Baty, D.U.2    Lane, E.B.3    McLean, W.H.4
  • 14
    • 24344433240 scopus 로고    scopus 로고
    • Epidermolysis bullosa simplex: Recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis
    • Pfendner EG, Sadowski SG, Uitto J. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/ genotype correlations, and implications for genetic counseling and prenatal diagnosis. J Invest Dermatol 2005; 125: 239-243.
    • (2005) J Invest Dermatol , vol.125 , pp. 239-243
    • Pfendner, E.G.1    Sadowski, S.G.2    Uitto, J.3
  • 16
    • 0036151350 scopus 로고    scopus 로고
    • A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations
    • Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, et al. A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations. J Invest Dermatol 2002; 118: 87-93.
    • (2002) J Invest Dermatol , vol.118 , pp. 87-93
    • Koss-Harnes, D.1    Hoyheim, B.2    Anton-Lamprecht, I.3
  • 17
    • 0346363880 scopus 로고    scopus 로고
    • Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin
    • Charlesworth A, Gagnoux-Palacios L, Bonduelle M, et al. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. J Invest Dermatol 2003; 121: 1344-1348.
    • (2003) J Invest Dermatol , vol.121 , pp. 1344-1348
    • Charlesworth, A.1    Gagnoux-Palacios, L.2    Bonduelle, M.3
  • 18
    • 0036911668 scopus 로고    scopus 로고
    • Deletion of a cytoplasmic domain of integrin beta 4 causes epidermolysis bullosa simplex
    • Jonkman MF, Pas HH, Nijenhuis M, et al. Deletion of a cytoplasmic domain of integrin beta 4 causes epidermolysis bullosa simplex. J Invest Dermatol 2002; 119: 1275-1281.
    • (2002) J Invest Dermatol , vol.119 , pp. 1275-1281
    • Jonkman, M.F.1    Pas, H.H.2    Nijenhuis, M.3
  • 19
    • 0036156170 scopus 로고    scopus 로고
    • Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex
    • Huber M, Floeth M, Borradori L, et al. Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex. J Invest Dermatol 2002; 118: 185-192.
    • (2002) J Invest Dermatol , vol.118 , pp. 185-192
    • Huber, M.1    Floeth, M.2    Borradori, L.3
  • 20
    • 34547458985 scopus 로고    scopus 로고
    • Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen
    • Pasmooij AMG, Van der Steege G, Pas HH, et al. Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. Br J Dermatol 2004; 13: 125-128.
    • (2004) Br J Dermatol , vol.13 , pp. 125-128
    • Pasmooij, A.M.G.1    Van der Steege, G.2    Pas, H.H.3
  • 21
    • 0029810901 scopus 로고    scopus 로고
    • The genetic basis of epidermolysis bullosa simplex with mottled pigmentation
    • Uttam J, Hutton E, Coulombe PA, et al. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci USA 1996; 93: 9079-9084.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 9079-9084
    • Uttam, J.1    Hutton, E.2    Coulombe, P.A.3
  • 22
    • 0032843899 scopus 로고    scopus 로고
    • Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients
    • Moog U, de Die-Smulders CE, Scheffer H, et al. Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Am J Med Genet 1999; 86: 376-379.
    • (1999) J Med Genet , vol.86 , pp. 376-379
    • Moog, U.1    de Die-Smulders, C.E.2    Scheffer, H.3
  • 23
    • 0035122099 scopus 로고    scopus 로고
    • Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation
    • Irvine AD, Rugg EL, Lane EB, et al. Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 2001; 144: 40-45.
    • (2001) Br J Dermatol , vol.144 , pp. 40-45
    • Irvine, A.D.1    Rugg, E.L.2    Lane, E.B.3
  • 24
    • 0030890858 scopus 로고    scopus 로고
    • A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation
    • Irvine AD, McKenna KE, Jenkinson H, Hughes AE. A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. J Invest Dermatol 1997; 108: 809-810.
    • (1997) J Invest Dermatol , vol.108 , pp. 809-810
    • Irvine, A.D.1    McKenna, K.E.2    Jenkinson, H.3    Hughes, A.E.4
  • 25
    • 1842454253 scopus 로고    scopus 로고
    • The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation
    • Hamada T, Ishii N, Kawano Y, et al. The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol 2004; 150: 609-611.
    • (2004) Br J Dermatol , vol.150 , pp. 609-611
    • Hamada, T.1    Ishii, N.2    Kawano, Y.3
  • 26
    • 22144447137 scopus 로고    scopus 로고
    • Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: A Japanese family with epidermolysis bullosa simplex with mottled pigmentation
    • Horiguchi Y, Sawamura D, Mori R, et al. Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: A Japanese family with epidermolysis bullosa simplex with mottled pigmentation. J Invest Dermatol 2005; 125: 83-85.
    • (2005) J Invest Dermatol , vol.125 , pp. 83-85
    • Horiguchi, Y.1    Sawamura, D.2    Mori, R.3
  • 27
    • 4544223818 scopus 로고    scopus 로고
    • Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
    • Nagao-Watanabe M, Fukao T, Matsui E, et al. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. Clin Genet 2004; 66: 236-238.
    • (2004) Clin Genet , vol.66 , pp. 236-238
    • Nagao-Watanabe, M.1    Fukao, T.2    Matsui, E.3
  • 28
    • 0036461064 scopus 로고    scopus 로고
    • Laminin 5 mutations in junctional epidermolysis bullosa: Molecular basis of Herlitz vs. non-Herlitz phenotypes
    • Nakano A, Chao SC, Pulkkinen L, et al. Laminin 5 mutations in junctional epidermolysis bullosa: Molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet 2002; 110: 41-51.
    • (2002) Hum Genet , vol.110 , pp. 41-51
    • Nakano, A.1    Chao, S.C.2    Pulkkinen, L.3
  • 29
    • 11244320363 scopus 로고    scopus 로고
    • Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: Molecular basis and clinical course of Herlitz disease
    • Muhle C, Jiang QJ, Charlesworth A, et al. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. Hum Genet 2005; 116: 33-42.
    • (2005) Hum Genet , vol.116 , pp. 33-42
    • Muhle, C.1    Jiang, Q.J.2    Charlesworth, A.3
  • 30
    • 4644265624 scopus 로고    scopus 로고
    • Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa
    • Posteraro P, De Luca N, Meneguzzi G, et al. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. J Invest Dermatol 2004; 123: 639-648.
    • (2004) J Invest Dermatol , vol.123 , pp. 639-648
    • Posteraro, P.1    De Luca, N.2    Meneguzzi, G.3
  • 31
    • 0036553471 scopus 로고    scopus 로고
    • Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families
    • Nakano A, Lestringant GG, Paperna T et al. Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol 2002; 46: 510-516.
    • (2002) J Am Acad Dermatol , vol.46 , pp. 510-516
    • Nakano, A.1    Lestringant, G.G.2    Paperna, T.3
  • 32
    • 0034792542 scopus 로고    scopus 로고
    • Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: Effects on laminin-5 assembly, secretion, and deposition
    • Castiglia D, Posteraro P, Spirito F et al. Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: Effects on laminin-5 assembly, secretion, and deposition. J Invest Dermatol 2001; 117: 731-739.
    • (2001) J Invest Dermatol , vol.117 , pp. 731-739
    • Castiglia, D.1    Posteraro, P.2    Spirito, F.3
  • 33
    • 0033832592 scopus 로고    scopus 로고
    • Herlitz junctional epidermolysis bullosa. novel and recurrent mutations in the LAMB3 gene and the population carrier frequency
    • Nakano A, Pfendner E, Hashimoto I, et al. Herlitz junctional epidermolysis bullosa. novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol 2000; 115: 493-498.
    • (2000) J Invest Dermatol , vol.115 , pp. 493-498
    • Nakano, A.1    Pfendner, E.2    Hashimoto, I.3
  • 34
    • 0032222884 scopus 로고    scopus 로고
    • Laminin 5 genes and Herlitz junctional epidermolysis bullosa: Novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online
    • Kon A, Pulkkinen L, Hara M et al. Laminin 5 genes and Herlitz junctional epidermolysis bullosa: Novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. Hum Mutat 1998; 12: 288.
    • (1998) Hum Mutat , vol.12 , pp. 288
    • Kon, A.1    Pulkkinen, L.2    Hara, M.3
  • 35
    • 33747044146 scopus 로고    scopus 로고
    • Epidermolysis Bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants
    • Varki R, Sadowski S, Pfendner E, et al. Epidermolysis Bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006; 43: 641-652.
    • (2006) J Med Genet , vol.43 , pp. 641-652
    • Varki, R.1    Sadowski, S.2    Pfendner, E.3
  • 36
    • 0032448061 scopus 로고    scopus 로고
    • Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa
    • Pulkkinen L, Uitto J. Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. J Invest Dermatol 1998; 111: 1244-1246.
    • (1998) J Invest Dermatol , vol.111 , pp. 1244-1246
    • Pulkkinen, L.1    Uitto, J.2
  • 37
    • 0032562076 scopus 로고    scopus 로고
    • Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa
    • Posteraro P, Sorvillo S, Gagnoux-Palacios L, et al. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. Biochem Biophys Res Commun 1998; 243: 758-764.
    • (1998) Biochem Biophys Res Commun , vol.243 , pp. 758-764
    • Posteraro, P.1    Sorvillo, S.2    Gagnoux-Palacios, L.3
  • 38
    • 0034743681 scopus 로고    scopus 로고
    • Truncated type XVII collagen expression in a patient with non-Herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation
    • van Leusden MR, Pas HH, Gedde-Dahl T Jr, et al. Truncated type XVII collagen expression in a patient with non-Herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. Lab Invest 2001; 81: 887-894.
    • (2001) Lab Invest , vol.81 , pp. 887-894
    • van Leusden, M.R.1    Pas, H.H.2    Gedde-Dahl Jr., T.3
  • 39
    • 0035132809 scopus 로고    scopus 로고
    • A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa
    • Ruzzi L, Pas H, Posteraro P, et al. A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol 2001; 116: 182-187.
    • (2001) J Invest Dermatol , vol.116 , pp. 182-187
    • Ruzzi, L.1    Pas, H.2    Posteraro, P.3
  • 40
    • 0033396298 scopus 로고    scopus 로고
    • Compound heterozygosity for novel splice site mutations in the BPAG2/ COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa
    • Pulkkinen L, Marinkovich MP, Tran HT, et al. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1999; 113: 1114-1118.
    • (1999) J Invest Dermatol , vol.113 , pp. 1114-1118
    • Pulkkinen, L.1    Marinkovich, M.P.2    Tran, H.T.3
  • 41
    • 0029121987 scopus 로고
    • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
    • McGrath JA, Gatalica B, Christiano AM, et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 1995; 11: 83-86.
    • (1995) Nat Genet , vol.11 , pp. 83-86
    • McGrath, J.A.1    Gatalica, B.2    Christiano, A.M.3
  • 42
    • 0031019014 scopus 로고    scopus 로고
    • Cloning of the human type XVII collagen gene (COL17A1) and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
    • Gatalica B, Pulkkinen L, Li K, et al. Cloning of the human type XVII collagen gene (COL17A1) and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 1997; 60: 352-365.
    • (1997) Am J Hum Genet , vol.60 , pp. 352-365
    • Gatalica, B.1    Pulkkinen, L.2    Li, K.3
  • 43
    • 0034068641 scopus 로고    scopus 로고
    • A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
    • Inoue M, Tamai K, Shimizu H, et al. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia? J Invest Dermatol 2000; 114: 1061-1064.
    • (2000) J Invest Dermatol , vol.114 , pp. 1061-1064
    • Inoue, M.1    Tamai, K.2    Shimizu, H.3
  • 44
    • 0031324451 scopus 로고    scopus 로고
    • Generalized atrophic benign epidermolysis bullosa
    • Darling TN, Bauer JW, Hintner H, et al. Generalized atrophic benign epidermolysis bullosa. Adv Dermatol 1997; 13: 87-119.
    • (1997) Adv Dermatol , vol.13 , pp. 87-119
    • Darling, T.N.1    Bauer, J.W.2    Hintner, H.3
  • 45
    • 0031844816 scopus 로고    scopus 로고
    • E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa
    • Mellerio JE, Eady RA, Atherton DJ, et al. E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Br J Dermatol 1998; 139: 325-331.
    • (1998) Br J Dermatol , vol.139 , pp. 325-331
    • Mellerio, J.E.1    Eady, R.A.2    Atherton, D.J.3
  • 46
    • 0030742445 scopus 로고    scopus 로고
    • Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy
    • Pulkkinen L, Meneguzzi G, McGrath JA, et al. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J Invest Dermatol 1997; 109: 232-237.
    • (1997) J Invest Dermatol , vol.109 , pp. 232-237
    • Pulkkinen, L.1    Meneguzzi, G.2    McGrath, J.A.3
  • 47
    • 0029067313 scopus 로고
    • Detection of sequence variants in the gene encoding the B3 chain of laminin-5 (LAMB3)
    • Pulkkinen L, McGrath JA, Christiano AM, et al. Detection of sequence variants in the gene encoding the B3 chain of laminin-5 (LAMB3). Hum Mutat 1995; 6: 77-84.
    • (1995) Hum Mutat , vol.6 , pp. 77-84
    • Pulkkinen, L.1    McGrath, J.A.2    Christiano, A.M.3
  • 48
    • 0029670321 scopus 로고    scopus 로고
    • A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: Evidence for a founder effect
    • McGrath JA, Kivirikko S, Ciatti S, et al. A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: Evidence for a founder effect. J Invest Dermatol 1996; 106: 781-784.
    • (1996) J Invest Dermatol , vol.106 , pp. 781-784
    • McGrath, J.A.1    Kivirikko, S.2    Ciatti, S.3
  • 49
    • 0034244572 scopus 로고    scopus 로고
    • Mutation report: Complete paternal uniparental isodisomy of chromosome 1: A novel mechanism for Herlitz junctional epidermolysis bullosa
    • Takizawa Y, Pulkkinen L, Chao SC, et al. Mutation report: Complete paternal uniparental isodisomy of chromosome 1: A novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 2000; 115: 307-311.
    • (2000) J Invest Dermatol , vol.115 , pp. 307-311
    • Takizawa, Y.1    Pulkkinen, L.2    Chao, S.C.3
  • 50
    • 13244287800 scopus 로고    scopus 로고
    • Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa
    • Fassihi H, Wessagowit V, Ashton GH, et al. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 2005; 30: 71-74.
    • (2005) Clin Exp Dermatol , vol.30 , pp. 71-74
    • Fassihi, H.1    Wessagowit, V.2    Ashton, G.H.3
  • 51
    • 0030821957 scopus 로고    scopus 로고
    • Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa
    • Pulkkinen L, Bullrich F, Czarnecki P, et al. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 1997; 61: 611-619.
    • (1997) Am J Hum Genet , vol.61 , pp. 611-619
    • Pulkkinen, L.1    Bullrich, F.2    Czarnecki, P.3
  • 52
  • 53
    • 0342545854 scopus 로고    scopus 로고
    • Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk
    • Lepinard C, Descamps P, Meneguzzi G, et al. Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. Prenat Diagn 2000; 20: 70-75.
    • (2000) Prenat Diagn , vol.20 , pp. 70-75
    • Lepinard, C.1    Descamps, P.2    Meneguzzi, G.3
  • 54
    • 0031794860 scopus 로고    scopus 로고
    • A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination
    • Gache Y, Romero-Graillet C, Spadafora A, et al. A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination. J Invest Dermatol 1998; 111: 914-916.
    • (1998) J Invest Dermatol , vol.111 , pp. 914-916
    • Gache, Y.1    Romero-Graillet, C.2    Spadafora, A.3
  • 55
    • 7844246149 scopus 로고    scopus 로고
    • Pyloric atresia-junctional epidermolysis bullosa syndrome: Mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease
    • Mellerio JE, Pulkkinen L, McMillan JR, et al. Pyloric atresia-junctional epidermolysis bullosa syndrome: Mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Br J Dermatol 1998; 139: 862-871.
    • (1998) Br J Dermatol , vol.139 , pp. 862-871
    • Mellerio, J.E.1    Pulkkinen, L.2    McMillan, J.R.3
  • 56
    • 0032231297 scopus 로고    scopus 로고
    • Novel ITGB4 mutations in lethal and non-lethal variants of epidermolysis bullosa with pyloric atresia: Missense vs. nonsense
    • Pulkkinen L, Rouan F, Bruckner-Tuderman L, et al. Novel ITGB4 mutations in lethal and non-lethal variants of epidermolysis bullosa with pyloric atresia: Missense vs. nonsense. Am J Hum Genet 1998; 63: 1376-1387.
    • (1998) Am J Hum Genet , vol.63 , pp. 1376-1387
    • Pulkkinen, L.1    Rouan, F.2    Bruckner-Tuderman, L.3
  • 57
    • 0032875192 scopus 로고    scopus 로고
    • Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing
    • Chavanas S, Gache Y, Vailly J, et al. Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. Hum Mol Genet 1999; 8: 2097-2105.
    • (1999) Hum Mol Genet , vol.8 , pp. 2097-2105
    • Chavanas, S.1    Gache, Y.2    Vailly, J.3
  • 58
    • 0035034497 scopus 로고    scopus 로고
    • Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations
    • Nakano A, Murrell D, Rico J, et al. Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res 2001; 49: 618-626.
    • (2001) Pediatr Res , vol.49 , pp. 618-626
    • Nakano, A.1    Murrell, D.2    Rico, J.3
  • 59
    • 0022570364 scopus 로고
    • Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease
    • Berger TG, Detlefs RL, Donatucci CF. Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. Pediatr Dermatol 1986; 3: 130-134.
    • (1986) Pediatr Dermatol , vol.3 , pp. 130-134
    • Berger, T.G.1    Detlefs, R.L.2    Donatucci, C.F.3
  • 60
    • 0030882931 scopus 로고    scopus 로고
    • Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia
    • Puvabanditsin S, Garrow E, Samransamraujkit R, et al. Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia. Pediatr Dermatol 1997; 14: 359-362.
    • (1997) Pediatr Dermatol , vol.14 , pp. 359-362
    • Puvabanditsin, S.1    Garrow, E.2    Samransamraujkit, R.3
  • 61
    • 0033864519 scopus 로고    scopus 로고
    • Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: A report of two case reports with molecular correlation and clinical management
    • Wallerstein R, Klein ML, Genieser N, et al. Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: A report of two case reports with molecular correlation and clinical management. Pediatr Dermatol 2000; 17: 286-289.
    • (2000) Pediatr Dermatol , vol.17 , pp. 286-289
    • Wallerstein, R.1    Klein, M.L.2    Genieser, N.3
  • 62
    • 0033918269 scopus 로고    scopus 로고
    • Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa
    • Kambham N, Tanji N, Seigle RL et al. Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. Am J Kidney Dis 2000; 36: 190-196.
    • (2000) Am J Kidney Dis , vol.36 , pp. 190-196
    • Kambham, N.1    Tanji, N.2    Seigle, R.L.3
  • 63
    • 0035114108 scopus 로고    scopus 로고
    • Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia
    • Ashton GH, Sorelli P, Mellerio JE, et al. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br J Dermatol 2001; 144: 408-414.
    • (2001) Br J Dermatol , vol.144 , pp. 408-414
    • Ashton, G.H.1    Sorelli, P.2    Mellerio, J.E.3
  • 64
    • 2642617023 scopus 로고    scopus 로고
    • Epidermolysis bullosa with pyloric atresia: Novel mutations in the β4 integrin gene (ITGB4)
    • Pulkkinen L, Kim DU, Uitto J. Epidermolysis bullosa with pyloric atresia: Novel mutations in the β4 integrin gene (ITGB4). Am J Pathol 1998; 152: 157-166.
    • (1998) Am J Pathol , vol.152 , pp. 157-166
    • Pulkkinen, L.1    Kim, D.U.2    Uitto, J.3
  • 65
    • 0142057148 scopus 로고    scopus 로고
    • Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia
    • Iacovacci S, Cicuzza S, Odorisio T, et al. Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. Exp Dermatol 2003; 12: 716-720.
    • (2003) Exp Dermatol , vol.12 , pp. 716-720
    • Iacovacci, S.1    Cicuzza, S.2    Odorisio, T.3
  • 66
    • 0030919887 scopus 로고    scopus 로고
    • Genomic organization of the integrin beta 4 gene (ITGB4): A homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia
    • Pulkkinen L, Kurtz K, Xu Y, et al. Genomic organization of the integrin beta 4 gene (ITGB4): A homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. Lab Invest 1997; 76: 823-833.
    • (1997) Lab Invest , vol.76 , pp. 823-833
    • Pulkkinen, L.1    Kurtz, K.2    Xu, Y.3
  • 67
    • 0030611108 scopus 로고    scopus 로고
    • Homozygous beta 4 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
    • Pulkkinen L, Kimonis VE, Xu Y, et al. Homozygous beta 4 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet 1997; 6: 669-674.
    • (1997) Hum Mol Genet , vol.6 , pp. 669-674
    • Pulkkinen, L.1    Kimonis, V.E.2    Xu, Y.3
  • 68
    • 0030912738 scopus 로고    scopus 로고
    • A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia
    • Ruzzi L, Gagnoux-Palacios L, Pinola M, et al. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest 1997; 99: 2826-2831.
    • (1997) J Clin Invest , vol.99 , pp. 2826-2831
    • Ruzzi, L.1    Gagnoux-Palacios, L.2    Pinola, M.3
  • 69
    • 11944249876 scopus 로고    scopus 로고
    • Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia
    • Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2005; 124: 111-115.
    • (2005) J Invest Dermatol , vol.124 , pp. 111-115
    • Pfendner, E.1    Uitto, J.2
  • 70
    • 14644402383 scopus 로고    scopus 로고
    • Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)
    • Nakamura H, Sawamura D, Goto M, et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn 2005; 7: 28-35.
    • (2005) J Mol Diagn , vol.7 , pp. 28-35
    • Nakamura, H.1    Sawamura, D.2    Goto, M.3
  • 71
    • 9444272226 scopus 로고    scopus 로고
    • Loss of plectin causes epidermolysis bullosa with muscular dystrophy: Cdna cloning and genomic organization
    • McLean WH, Pulkkinen L, Smith FJ, et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: CDNA cloning and genomic organization. Genes Dev 1996; 10: 1724-1735.
    • (1996) Genes Dev , vol.10 , pp. 1724-1735
    • McLean, W.H.1    Pulkkinen, L.2    Smith, F.J.3
  • 72
    • 0030767241 scopus 로고    scopus 로고
    • Epidermolysis bullosa: A spectrum of clinical phenotypes explained by molecular heterogeneity
    • Uitto J, Pulkkinen L, McLean WH. Epidermolysis bullosa: A spectrum of clinical phenotypes explained by molecular heterogeneity. Mol Med Today 1997; 3: 457-465.
    • (1997) Mol Med Today , vol.3 , pp. 457-465
    • Uitto, J.1    Pulkkinen, L.2    McLean, W.H.3
  • 73
    • 2442675181 scopus 로고    scopus 로고
    • Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation
    • Schara U, Tucke J, Mortier W, et al. Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. Eur J Pediatr 2004; 163: 218-222.
    • (2004) Eur J Pediatr , vol.163 , pp. 218-222
    • Schara, U.1    Tucke, J.2    Mortier, W.3
  • 74
    • 16844381122 scopus 로고    scopus 로고
    • Progress in epidermolysis bullosa: The phenotypic spectrum of plectin mutations
    • Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: The phenotypic spectrum of plectin mutations. Exp Dermatol 2005; 14: 241-249.
    • (2005) Exp Dermatol , vol.14 , pp. 241-249
    • Pfendner, E.1    Rouan, F.2    Uitto, J.3
  • 75
    • 0344668724 scopus 로고    scopus 로고
    • Plectin 5′-transcript diversity: Short alternative sequences determine stability of gene products, initiation of translation and subcellular localization of isoforms
    • Rezniczek GA, Abrahamsberg C, Fuchs P, et al. Plectin 5′-transcript diversity: Short alternative sequences determine stability of gene products, initiation of translation and subcellular localization of isoforms. Hum Mol Genet 2003; 12: 3181-3194.
    • (2003) Hum Mol Genet , vol.12 , pp. 3181-3194
    • Rezniczek, G.A.1    Abrahamsberg, C.2    Fuchs, P.3
  • 76
    • 34547469358 scopus 로고    scopus 로고
    • Epidermolysis bullosa. II. Type VII collagen mutations and phenotype/ genotype correlations in the dystrophic subtypes
    • September [Epub ahead of print]
    • Varki R, Sadowski S, Uitto J, et al. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype/genotype correlations in the dystrophic subtypes. J Med Genet 2006; September 13 [Epub ahead of print].
    • (2006) J Med Genet , vol.13
    • Varki, R.1    Sadowski, S.2    Uitto, J.3
  • 77
    • 0242635656 scopus 로고    scopus 로고
    • Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa
    • Mallipeddi R, Bleck O, Mellerio JE, et al. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. Br J Dermatol 2003; 149: 810-818.
    • (2003) Br J Dermatol , vol.149 , pp. 810-818
    • Mallipeddi, R.1    Bleck, O.2    Mellerio, J.E.3
  • 78
    • 0032956369 scopus 로고    scopus 로고
    • Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: A new dominant or mitis recessive mutation?
    • Hashimoto I, Kon A, Tamai K, Uitto J. Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: A new dominant or mitis recessive mutation? Exp Dermatol 1999; 8: 140-142.
    • (1999) Exp Dermatol , vol.8 , pp. 140-142
    • Hashimoto, I.1    Kon, A.2    Tamai, K.3    Uitto, J.4
  • 79
    • 0032834881 scopus 로고    scopus 로고
    • Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis
    • Whittock NV, Ashton GH, Mohammedi R, et al. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol 1999; 113: 673-686.
    • (1999) J Invest Dermatol , vol.113 , pp. 673-686
    • Whittock, N.V.1    Ashton, G.H.2    Mohammedi, R.3
  • 80
    • 17144473207 scopus 로고    scopus 로고
    • -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa
    • Gardella R, Barlati S, Zoppi N et al. -96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. Hum Mutat 2000; 16: 275.
    • (2000) Hum Mutat , vol.16 , pp. 275
    • Gardella, R.1    Barlati, S.2    Zoppi, N.3
  • 81
    • 0033911780 scopus 로고    scopus 로고
    • The molecular basis of dystrophic epidermolysis bullosa in Mexico
    • Salas-Alanis JC, Amaya-Guerra M, McGrath JA. The molecular basis of dystrophic epidermolysis bullosa in Mexico. Int J Dermatol 2000; 39: 436-442.
    • (2000) Int J Dermatol , vol.39 , pp. 436-442
    • Salas-Alanis, J.C.1    Amaya-Guerra, M.2    McGrath, J.A.3
  • 82
    • 0036907047 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa
    • Gardella R, Castiglia D, Posteraro P et al. Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2002; 119: 1456-1462.
    • (2002) J Invest Dermatol , vol.119 , pp. 1456-1462
    • Gardella, R.1    Castiglia, D.2    Posteraro, P.3
  • 83
    • 0030735788 scopus 로고    scopus 로고
    • Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1)
    • Jarvikallio A, Pulkkinen L, Uitto J. Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (COL7A1). Hum Mutat 1997; 10: 338-347.
    • (1997) Hum Mutat , vol.10 , pp. 338-347
    • Jarvikallio, A.1    Pulkkinen, L.2    Uitto, J.3
  • 84
    • 1842629794 scopus 로고    scopus 로고
    • Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: Ethnic-specific and worldwide recurrent mutations
    • Murata T, Masunaga T, Ishiko A, et al. Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: Ethnic-specific and worldwide recurrent mutations. Arch Dermatol Res 2004; 295: 442-447.
    • (2004) Arch Dermatol Res , vol.295 , pp. 442-447
    • Murata, T.1    Masunaga, T.2    Ishiko, A.3
  • 85
    • 18944362110 scopus 로고    scopus 로고
    • High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: Significance for future mutation detection strategies in dystrophic epidermolysis bullosa
    • Csikos M, Szocs HI, Laszik A, et al. High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: Significance for future mutation detection strategies in dystrophic epidermolysis bullosa. Br J Dermatol 2005; 152: 879-886.
    • (2005) Br J Dermatol , vol.152 , pp. 879-886
    • Csikos, M.1    Szocs, H.I.2    Laszik, A.3
  • 86
    • 0033041926 scopus 로고    scopus 로고
    • Recurrent molecular abnormalities in type VII collagen in southern Italian patients with recessive dystrophic epidermolysis bullosa
    • Ashton GH, Mellerio JE, Dunnill MG, et al. Recurrent molecular abnormalities in type VII collagen in southern Italian patients with recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol 1999; 24: 232-235.
    • (1999) Clin Exp Dermatol , vol.24 , pp. 232-235
    • Ashton, G.H.1    Mellerio, J.E.2    Dunnill, M.G.3
  • 87
    • 0035095132 scopus 로고    scopus 로고
    • Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1
    • Wessagowit V, Ashton GH, Mohammedi R, et al. Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. Clin Exp Dermatol 2001; 26: 97-99.
    • (2001) Clin Exp Dermatol , vol.26 , pp. 97-99
    • Wessagowit, V.1    Ashton, G.H.2    Mohammedi, R.3
  • 88
    • 0032457477 scopus 로고    scopus 로고
    • Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counseling
    • Rouan F, Pulkkinen L, Jonkman MF, et al. Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counseling. J Invest Dermatol 1998; 111: 1210-1213.
    • (1998) J Invest Dermatol , vol.111 , pp. 1210-1213
    • Rouan, F.1    Pulkkinen, L.2    Jonkman, M.F.3
  • 89
    • 0034096497 scopus 로고    scopus 로고
    • A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa
    • Lee JY, Li C, Chao SC, et al. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. Arch Dermatol Res 2000; 292: 159-163.
    • (2000) Arch Dermatol Res , vol.292 , pp. 159-163
    • Lee, J.Y.1    Li, C.2    Chao, S.C.3
  • 90
    • 0031021025 scopus 로고    scopus 로고
    • Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counseling
    • Kon A, McGrath JA, Pulkkinen L, et al. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J Invest Dermatol 1997; 108: 224-228
    • (1997) J Invest Dermatol , vol.108 , pp. 224-228
    • Kon, A.1    McGrath, J.A.2    Pulkkinen, L.3
  • 91
    • 0034496139 scopus 로고    scopus 로고
    • Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa
    • Murata T, Masunaga T, Shimizu H, et al. Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. Arch Dermatol Res 2000; 292: 477-481.
    • (2000) Arch Dermatol Res , vol.292 , pp. 477-481
    • Murata, T.1    Masunaga, T.2    Shimizu, H.3
  • 92
    • 0032881359 scopus 로고    scopus 로고
    • Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of protype VII collagen and a moderately severe dystrophic epidermolysis bullosa phenotype
    • Shimizu H, Hammami-Hauasli N, Hatta N, et al. Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of protype VII collagen and a moderately severe dystrophic epidermolysis bullosa phenotype. J Invest Dermatol 1999; 113: 419-421.
    • (1999) J Invest Dermatol , vol.113 , pp. 419-421
    • Shimizu, H.1    Hammami-Hauasli, N.2    Hatta, N.3
  • 93
    • 2142808710 scopus 로고    scopus 로고
    • The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familial clinical heterogeneity in dominant dystrophic epidermolysis bullosa
    • Nakamura H, Sawamura D, Goto M, et al. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familial clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci 2004; 34: 195-200.
    • (2004) J Dermatol Sci , vol.34 , pp. 195-200
    • Nakamura, H.1    Sawamura, D.2    Goto, M.3
  • 94
    • 16844370056 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: When missense doesn't make sense
    • Wessagowit V, Kim SC, Woong Oh S, et al. Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: When missense doesn't make sense. J Invest Dermatol 2005; 124: 863-866.
    • (2005) J Invest Dermatol , vol.124 , pp. 863-866
    • Wessagowit, V.1    Kim, S.C.2    Woong Oh, S.3
  • 95
    • 0032231415 scopus 로고    scopus 로고
    • Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa
    • Sakuntabhai A, Hammami-Hauasli N, Bodemer C, et al. Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa. Am J Hum Genet 1998; 63: 737-748.
    • (1998) Am J Hum Genet , vol.63 , pp. 737-748
    • Sakuntabhai, A.1    Hammami-Hauasli, N.2    Bodemer, C.3
  • 96
    • 0031453230 scopus 로고    scopus 로고
    • Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: A splice site mutation in the type VII collagen gene
    • Christiano AM, Fine JD, Uitto J. Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: A splice site mutation in the type VII collagen gene. J Invest Dermatol 1997; 109: 811-814.
    • (1997) J Invest Dermatol , vol.109 , pp. 811-814
    • Christiano, A.M.1    Fine, J.D.2    Uitto, J.3
  • 97
    • 0029915438 scopus 로고    scopus 로고
    • Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: A recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype
    • Christiano AM, Anton-Lamprecht I, Amano S, et al. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: A recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. Am J Hum Genet 1996; 58: 682-693.
    • (1996) Am J Hum Genet , vol.58 , pp. 682-693
    • Christiano, A.M.1    Anton-Lamprecht, I.2    Amano, S.3
  • 98
    • 0035724893 scopus 로고    scopus 로고
    • Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa
    • Cserhalmi-Friedman PB, Garzon MC, Guzman E, et al. Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa. Invest Dermatol 2001; 117: 1327-1328.
    • (2001) Invest Dermatol , vol.117 , pp. 1327-1328
    • Cserhalmi-Friedman, P.B.1    Garzon, M.C.2    Guzman, E.3
  • 99
    • 25144470287 scopus 로고    scopus 로고
    • Clinical and molecular significance of splice site mutations in the Plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome
    • Wessagowit V, McGrath JA. Clinical and molecular significance of splice site mutations in the Plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 2005; 85: 386-388.
    • (2005) Acta Derm Venereol , vol.85 , pp. 386-388
    • Wessagowit, V.1    McGrath, J.A.2
  • 100
    • 0038389789 scopus 로고    scopus 로고
    • Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome
    • Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003; 73: 174-187.
    • (2003) Am J Hum Genet , vol.73 , pp. 174-187
    • Siegel, D.H.1    Ashton, G.H.2    Penagos, H.G.3
  • 101
    • 9144226774 scopus 로고    scopus 로고
    • Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome
    • Ashton GH, McLean WH, South AP, et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol 2004; 122: 78-83.
    • (2004) J Invest Dermatol , vol.122 , pp. 78-83
    • Ashton, G.H.1    McLean, W.H.2    South, A.P.3
  • 102
    • 10744230804 scopus 로고    scopus 로고
    • An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngoonychocutaneous syndrome
    • McLean WH, Irvine AD, Hamill KJ, et al. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngoonychocutaneous syndrome. Hum Mol Genet 2003; 12: 2395-2409.
    • (2003) Hum Mol Genet , vol.12 , pp. 2395-2409
    • McLean, W.H.1    Irvine, A.D.2    Hamill, K.J.3
  • 103
    • 17444398948 scopus 로고    scopus 로고
    • Molecular abnormalities of the desmosomal protein desmoplakin in human disease
    • Cheong JE, Wessagowit V, McGrath JA. Molecular abnormalities of the desmosomal protein desmoplakin in human disease. Clin Exp Dermatol 2005; 30: 261-266.
    • (2005) Clin Exp Dermatol , vol.30 , pp. 261-266
    • Cheong, J.E.1    Wessagowit, V.2    McGrath, J.A.3
  • 104
    • 25444463595 scopus 로고    scopus 로고
    • Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
    • Jonkman MF, Pasmooij AM, Pasmans SG, et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 2005; 77: 653-660.
    • (2005) Am J Hum Genet , vol.77 , pp. 653-660
    • Jonkman, M.F.1    Pasmooij, A.M.2    Pasmans, S.G.3
  • 105
    • 0038799919 scopus 로고    scopus 로고
    • Prenatal diagnosis for epidermolysis bullosa: A study of 144 consecutive pregnancies at risk
    • Pfendner E, Nakano A, Pulkkinen L, et al. Prenatal diagnosis for epidermolysis bullosa: A study of 144 consecutive pregnancies at risk. Prenat Diagn 2003; 23: 447-456.
    • (2003) Prenat Diagn , vol.23 , pp. 447-456
    • Pfendner, E.1    Nakano, A.2    Pulkkinen, L.3
  • 106
    • 0018890576 scopus 로고
    • Prenatal diagnosis of epidermolysis bullosa lethalis
    • Rodeck CH, Eady RA, Gosden CM. Prenatal diagnosis of epidermolysis bullosa lethalis. Lancet 1980; 1: 949-952.
    • (1980) Lancet , vol.1 , pp. 949-952
    • Rodeck, C.H.1    Eady, R.A.2    Gosden, C.M.3
  • 107
    • 33644927003 scopus 로고    scopus 로고
    • Prenatal diagnosis for severe inherited skin disorders: 25 years' experience
    • Fassihi H, Eady RA, Mellerio JE, et al. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. Br J Dermatol 2006; 154: 106-113.
    • (2006) Br J Dermatol , vol.154 , pp. 106-113
    • Fassihi, H.1    Eady, R.A.2    Mellerio, J.E.3
  • 108
    • 0034105795 scopus 로고    scopus 로고
    • Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: Fetal skin biopsy using a 1-mm microendoscope
    • Seubert DE, Feldman B, Krivchenia EL, et al. Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: Fetal skin biopsy using a 1-mm microendoscope. Fetal Diagn Ther 2000; 15: 89-92.
    • (2000) Fetal Diagn Ther , vol.15 , pp. 89-92
    • Seubert, D.E.1    Feldman, B.2    Krivchenia, E.L.3
  • 109
    • 0031953767 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of severe inherited skin diseases
    • McGrath JA, Handyside AH. Preimplantation genetic diagnosis of severe inherited skin diseases. Exp Dermatol 1998; 7: 65-72.
    • (1998) Exp Dermatol , vol.7 , pp. 65-72
    • McGrath, J.A.1    Handyside, A.H.2
  • 110
    • 0033940736 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa
    • Cserhalmi-Friedman PB, Tang Y, Adler A, et al. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol 2000; 9: 290-297.
    • (2000) Exp Dermatol , vol.9 , pp. 290-297
    • Cserhalmi-Friedman, P.B.1    Tang, Y.2    Adler, A.3
  • 111
    • 33644917428 scopus 로고    scopus 로고
    • Pre-implantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome
    • Fassihi H, Grace J, Lashwood A et al. Pre-implantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome. Br J Dermatol 2006; 154: 546-550.
    • (2006) Br J Dermatol , vol.154 , pp. 546-550
    • Fassihi, H.1    Grace, J.2    Lashwood, A.3
  • 112
    • 0042427279 scopus 로고    scopus 로고
    • Probing the fetal genome: Progress in non-invasive prenatal diagnosis
    • Uitto J, Pfendner E, Jackson LG. Probing the fetal genome: Progress in non-invasive prenatal diagnosis. Trends Mol Med 2003; 9: 339-343.
    • (2003) Trends Mol Med , vol.9 , pp. 339-343
    • Uitto, J.1    Pfendner, E.2    Jackson, L.G.3
  • 113
    • 22044435548 scopus 로고    scopus 로고
    • Gene therapy approaches for epidermolysis bullosa
    • Ferrari S, Pellegrini G, Mavilio F, et al. Gene therapy approaches for epidermolysis bullosa. Clin Dermatol 2005; 23: 430-436.
    • (2005) Clin Dermatol , vol.23 , pp. 430-436
    • Ferrari, S.1    Pellegrini, G.2    Mavilio, F.3
  • 114
    • 0035195072 scopus 로고    scopus 로고
    • Epidermolysis bullosa: Scientific advances and therapeutic challenges
    • Eady RA. Epidermolysis bullosa: Scientific advances and therapeutic challenges. J Dermatol 2001; 28: 638-640.
    • (2001) J Dermatol , vol.28 , pp. 638-640
    • Eady, R.A.1
  • 115
    • 4544276259 scopus 로고    scopus 로고
    • Gene therapy of epidermolysis bullosa
    • Bauer JW, Laimer M. Gene therapy of epidermolysis bullosa. Expert Opin Biol Ther 2004; 4: 1435-1443.
    • (2004) Expert Opin Biol Ther , vol.4 , pp. 1435-1443
    • Bauer, J.W.1    Laimer, M.2
  • 116
    • 0035809198 scopus 로고    scopus 로고
    • An inducible mouse model for epidermolysis bullosa simplex: Implications for gene therapy
    • Cao T, Longley MA, Wang XJ, et al. An inducible mouse model for epidermolysis bullosa simplex: Implications for gene therapy. J Cell Biol 2001; 152: 651-656.
    • (2001) J Cell Biol , vol.152 , pp. 651-656
    • Cao, T.1    Longley, M.A.2    Wang, X.J.3
  • 117
    • 15044358758 scopus 로고    scopus 로고
    • Inherited junctional epidermolysis bullosa in the German pointer: Establishment of a large animal model
    • Capt A, Spirito F, Guaguere E et al. Inherited junctional epidermolysis bullosa in the German pointer: Establishment of a large animal model. J Invest Dermatol 2005; 124: 530-535.
    • (2005) J Invest Dermatol , vol.124 , pp. 530-535
    • Capt, A.1    Spirito, F.2    Guaguere, E.3
  • 118
    • 28844454528 scopus 로고    scopus 로고
    • Sustained phenotypic reversion of junctional epidermolysis bullosa dog keratinocytes: Establishment of an immunocompetent animal model for cutaneous gene therapy
    • Spirito F, Capt A, Del Rio M, et al. Sustained phenotypic reversion of junctional epidermolysis bullosa dog keratinocytes: Establishment of an immunocompetent animal model for cutaneous gene therapy. Biochem Biophys Res Commun 2006; 339: 769-778.
    • (2006) Biochem Biophys Res Commun , vol.339 , pp. 769-778
    • Spirito, F.1    Capt, A.2    Del Rio, M.3
  • 119
    • 4644361590 scopus 로고    scopus 로고
    • Inducible mouse models for inherited skin diseases: Implications for skin gene therapy
    • Arin MJ, Roop DR. Inducible mouse models for inherited skin diseases: implications for skin gene therapy. Cells Tissues Organs 2004; 177: 160-168.
    • (2004) Cells Tissues Organs , vol.177 , pp. 160-168
    • Arin, M.J.1    Roop, D.R.2
  • 120
    • 15044345524 scopus 로고    scopus 로고
    • Animal models of epidermolysis bullosa - Targets for gene therapy
    • Jiang QJ, Uitto J. Animal models of epidermolysis bullosa - targets for gene therapy. J Invest Dermatol 2005; 124: Xi-xiii.
    • (2005) J Invest Dermatol , vol.124
    • Jiang, Q.J.1    Uitto, J.2
  • 121
    • 0030983674 scopus 로고    scopus 로고
    • Topical application of viral vectors for epidermal gene transfer
    • Lu B, Federoff HJ, Wang Y, et al. Topical application of viral vectors for epidermal gene transfer. J Invest Dermatol 1997; 108: 803-808.
    • (1997) J Invest Dermatol , vol.108 , pp. 803-808
    • Lu, B.1    Federoff, H.J.2    Wang, Y.3
  • 122
    • 0033004187 scopus 로고    scopus 로고
    • Gene therapy and dermatology: More than just skin deep
    • Somani AK, Esmail N, Siminovitch KA. Gene therapy and dermatology: More than just skin deep. J Cutan Med Surg 1999; 3: 249-259.
    • (1999) J Cutan Med Surg , vol.3 , pp. 249-259
    • Somani, A.K.1    Esmail, N.2    Siminovitch, K.A.3
  • 123
    • 0033989521 scopus 로고    scopus 로고
    • Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
    • Alexeev V, Igoucheva O, Domashenko A, et al. Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide. Nat Biotechnol 2000; 18: 43-47.
    • (2000) Nat Biotechnol , vol.18 , pp. 43-47
    • Alexeev, V.1    Igoucheva, O.2    Domashenko, A.3
  • 124
    • 0036799273 scopus 로고    scopus 로고
    • Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents
    • Jiang QJ, Izakovic J, Zenker M, et al. Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents. J Pediatr 2002; 141: 553-559.
    • (2002) J Pediatr , vol.141 , pp. 553-559
    • Jiang, Q.J.1    Izakovic, J.2    Zenker, M.3
  • 125
    • 0043133368 scopus 로고    scopus 로고
    • Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors
    • Baldeschi C, Gache Y, Rattenholl A, et al. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 2003; 12: 1897-1905.
    • (2003) Hum Mol Genet , vol.12 , pp. 1897-1905
    • Baldeschi, C.1    Gache, Y.2    Rattenholl, A.3
  • 126
    • 0034637611 scopus 로고    scopus 로고
    • Development and characterization of a recombinant truncated type VII collagen 'minigene'. Implication for gene therapy of dystrophic epidermolysis bullosa
    • Chen M, O'Toole EA, Muellenhoff M, et al. Development and characterization of a recombinant truncated type VII collagen 'minigene'. Implication for gene therapy of dystrophic epidermolysis bullosa. J Biol Chem 2000; 275: 24 429-24 435.
    • (2000) J Biol Chem , vol.275
    • Chen, M.1    O'Toole, E.A.2    Muellenhoff, M.3
  • 127
    • 0032503628 scopus 로고    scopus 로고
    • Corrective transduction of human epidermal stem cells in laminin- 5-dependent junctional epidermolysis bullosa
    • Dellambra E, Vailly J, Pellegrini G, et al. Corrective transduction of human epidermal stem cells in laminin- 5-dependent junctional epidermolysis bullosa. Hum Gene Ther 1998; 9: 1359-1370.
    • (1998) Hum Gene Ther , vol.9 , pp. 1359-1370
    • Dellambra, E.1    Vailly, J.2    Pellegrini, G.3
  • 128
    • 0035942278 scopus 로고    scopus 로고
    • In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa
    • Robbins PB, Lin Q, Goodnough JB, et al. In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. Proc Natl Acad Sci USA 2001; 98: 5193-5198.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 5193-5198
    • Robbins, P.B.1    Lin, Q.2    Goodnough, J.B.3
  • 129
    • 4344570380 scopus 로고    scopus 로고
    • Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo
    • Woodley DT, Keene DR, Atha T et al. Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo. Mol Ther 2004; 10: 318-326.
    • (2004) Mol Ther , vol.10 , pp. 318-326
    • Woodley, D.T.1    Keene, D.R.2    Atha, T.3
  • 130
    • 0037448352 scopus 로고    scopus 로고
    • A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency
    • Hacein-Bey-Abina S, von Kalle C, Schmidt M, et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 2003; 348: 255-256.
    • (2003) N Engl J Med , vol.348 , pp. 255-256
    • Hacein-Bey-Abina, S.1    von Kalle, C.2    Schmidt, M.3
  • 131
    • 0142089747 scopus 로고    scopus 로고
    • Fatal systemic inflammatory response syndrome in an ornithine transcarbamylase deficient patient following adenoviral gene transfer
    • Raper SE, Chirmule N, Lee FS, et al. Fatal systemic inflammatory response syndrome in an ornithine transcarbamylase deficient patient following adenoviral gene transfer. Mol Genet Metab 2003; 80: 148-158.
    • (2003) Mol Genet Metab , vol.80 , pp. 148-158
    • Raper, S.E.1    Chirmule, N.2    Lee, F.S.3
  • 132
    • 0038618975 scopus 로고    scopus 로고
    • PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa
    • Ortiz-Urda S, Thyagarajan B, Keene DR, et al. PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. Hum Gene Ther 2003; 14: 923-928.
    • (2003) Hum Gene Ther , vol.14 , pp. 923-928
    • Ortiz-Urda, S.1    Thyagarajan, B.2    Keene, D.R.3
  • 133
    • 24344495491 scopus 로고    scopus 로고
    • Awakening gene therapy with Sleeping Beauty transposons
    • Essner JJ, McIvor RS, Hackett PB. Awakening gene therapy with Sleeping Beauty transposons. Curr Opin Pharmacol 2005; 5: 513-519.
    • (2005) Curr Opin Pharmacol , vol.5 , pp. 513-519
    • Essner, J.J.1    McIvor, R.S.2    Hackett, P.B.3
  • 134
    • 0037587235 scopus 로고    scopus 로고
    • Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer
    • Ortiz-Urda S, Lin Q, Yant SR, et al. Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. Gene Ther 2003; 10: 1099-1104.
    • (2003) Gene Ther , vol.10 , pp. 1099-1104
    • Ortiz-Urda, S.1    Lin, Q.2    Yant, S.R.3
  • 135
    • 0043175257 scopus 로고    scopus 로고
    • Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases
    • Dallinger G, Puttaraju M, Mitchell LG, et al. Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases. Exp Dermatol 2003; 12: 37-46.
    • (2003) Exp Dermatol , vol.12 , pp. 37-46
    • Dallinger, G.1    Puttaraju, M.2    Mitchell, L.G.3
  • 136
    • 0036797451 scopus 로고    scopus 로고
    • Stable nonviral genetic correction of inherited human skin disease
    • Ortiz-Urda S, Thyagarajan B, Keene DR, et al. Stable nonviral genetic correction of inherited human skin disease. Nat Med 2002; 8: 1166-1170.
    • (2002) Nat Med , vol.8 , pp. 1166-1170
    • Ortiz-Urda, S.1    Thyagarajan, B.2    Keene, D.R.3
  • 137
    • 0036898193 scopus 로고    scopus 로고
    • Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa
    • Chen M, Kasahara N, Keene DR, et al. Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. Nat Genet 2002; 32: 670-675.
    • (2002) Nat Genet , vol.32 , pp. 670-675
    • Chen, M.1    Kasahara, N.2    Keene, D.R.3
  • 138
    • 0037244019 scopus 로고    scopus 로고
    • Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue
    • Ortiz-Urda S, Lin Q, Green CL, et al. Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue. J Clin Invest 2003; 111: 251-255.
    • (2003) J Clin Invest , vol.111 , pp. 251-255
    • Ortiz-Urda, S.1    Lin, Q.2    Green, C.L.3
  • 139
    • 0242658535 scopus 로고    scopus 로고
    • Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone
    • Woodley DT, Krueger GG, Jorgensen CM, et al. Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone. J Invest Dermatol 2003; 121: 1021-1028.
    • (2003) J Invest Dermatol , vol.121 , pp. 1021-1028
    • Woodley, D.T.1    Krueger, G.G.2    Jorgensen, C.M.3
  • 140
    • 3142713644 scopus 로고    scopus 로고
    • Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa
    • Woodley DT, Keene DR, Atha T, et al. Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. Nat Med 2004; 10: 693-695.
    • (2004) Nat Med , vol.10 , pp. 693-695
    • Woodley, D.T.1    Keene, D.R.2    Atha, T.3
  • 141
    • 33746424373 scopus 로고    scopus 로고
    • Mesenchymal stem cells as trophic mediators
    • April 17
    • Caplan AI, Dennis JE. Mesenchymal stem cells as trophic mediators. J Cell Biochem 2006; April 17; 98: 1076-1084.
    • (2006) J Cell Biochem , vol.98 , pp. 1076-1084
    • Caplan, A.I.1    Dennis, J.E.2
  • 142
    • 17444379357 scopus 로고    scopus 로고
    • Immunobiology of human mesenchymal stem cells and future use in hematopoietic stem cell transplantation
    • Le Blanc K, Ringden O. Immunobiology of human mesenchymal stem cells and future use in hematopoietic stem cell transplantation. Biol Blood Marrow Transplant 2005; 11: 321-334.
    • (2005) Biol Blood Marrow Transplant , vol.11 , pp. 321-334
    • Le Blanc, K.1    Ringden, O.2
  • 143
    • 4444332042 scopus 로고    scopus 로고
    • Contribution of bone marrow-derived cells to skin: Collagen deposition and wound repair
    • Fathke C, Wilson L, Hutter J, et al. Contribution of bone marrow-derived cells to skin: Collagen deposition and wound repair. Stem Cells 2004; 22: 812-822.
    • (2004) Stem Cells , vol.22 , pp. 812-822
    • Fathke, C.1    Wilson, L.2    Hutter, J.3
  • 144
    • 20244369746 scopus 로고    scopus 로고
    • Engrafted bone marrow-derived flk-(1+) mesenchymal stem cells regenerate skin tissue
    • Deng W, Han Q, Liao L, et al. Engrafted bone marrow-derived flk-(1+) mesenchymal stem cells regenerate skin tissue. Tissue Eng 2005; 11: 110-119.
    • (2005) Tissue Eng , vol.11 , pp. 110-119
    • Deng, W.1    Han, Q.2    Liao, L.3
  • 145
    • 0031134438 scopus 로고    scopus 로고
    • The importance of epidermal stem cells in keratinocyte-mediated gene therapy
    • De Luca M, Pellegrini G. The importance of epidermal stem cells in keratinocyte-mediated gene therapy. Gene Ther 1997; 4: 381-383.
    • (1997) Gene Ther , vol.4 , pp. 381-383
    • De Luca, M.1    Pellegrini, G.2
  • 146
    • 0032969257 scopus 로고    scopus 로고
    • Transduction of a preselected population of human epidermal stem cells: Consequences for gene therapy
    • Bickenbach JR, Roop DR. Transduction of a preselected population of human epidermal stem cells: Consequences for gene therapy. Proc Assoc Am Physicians 1999; 111: 184-189.
    • (1999) Proc Assoc Am Physicians , vol.111 , pp. 184-189
    • Bickenbach, J.R.1    Roop, D.R.2
  • 147
    • 0034330406 scopus 로고    scopus 로고
    • Toward epidermal stem cell-mediated ex vivo gene therapy of junctional epidermolysis bullosa
    • Dellambra E, Pellegrini G, Guerra L, et al. Toward epidermal stem cell-mediated ex vivo gene therapy of junctional epidermolysis bullosa. Hum Gene Ther 2000; 11: 2283-2287.
    • (2000) Hum Gene Ther , vol.11 , pp. 2283-2287
    • Dellambra, E.1    Pellegrini, G.2    Guerra, L.3


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