메뉴 건너뛰기




Volumn 138, Issue 5, 1998, Pages 859-866

180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: Report of four cases with an unusually mild phenotype

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN;

EID: 0031746588     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1998.02226.x     Document Type: Article
Times cited : (14)

References (31)
  • 1
    • 0017162011 scopus 로고
    • Epidermolysis bullosa hereditaria with junctional blistering in an adult
    • Hashimoto I, Schnyder UW. Anton-Lamprecht I. Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 1976; 152: 72-86.
    • (1976) Dermatologica , vol.152 , pp. 72-86
    • Hashimoto, I.1    Schnyder, U.W.2    Anton-Lamprecht, I.3
  • 2
    • 0018731182 scopus 로고
    • Zur Klinik der Epidermolysen mit junktionaler Blasenbildung
    • Schnyder UW, Anton-Lamprecht I. Zur Klinik der Epidermolysen mit junktionaler Blasenbildung. Dermatologica 1979; 159: 402-6.
    • (1979) Dermatologica , vol.159 , pp. 402-406
    • Schnyder, U.W.1    Anton-Lamprecht, I.2
  • 3
    • 0020034842 scopus 로고
    • Generalized atrophic benign epidermolysis bullosa
    • Hinter H, Wolff K. Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 1982; 118: 375-84.
    • (1982) Arch Dermatol , vol.118 , pp. 375-384
    • Hinter, H.1    Wolff, K.2
  • 4
    • 0022646450 scopus 로고
    • The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States
    • Paller AS, Fine JD, Kaplan S, Pearson RW. The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States. Arch Dermatol 1986: 122: 704-10.
    • (1986) Arch Dermatol , vol.122 , pp. 704-710
    • Paller, A.S.1    Fine, J.D.2    Kaplan, S.3    Pearson, R.W.4
  • 5
    • 0026067709 scopus 로고
    • Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. a consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry
    • Fine JD, Bauer EA, Briggaman RA et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 1991; 24: 119-35.
    • (1991) J Am Acad Dermatol , vol.24 , pp. 119-135
    • Fine, J.D.1    Bauer, E.A.2    Briggaman, R.A.3
  • 6
    • 0029145676 scopus 로고
    • Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa
    • Pohla-Gubo G, Lazarova Z. Giudice GJ et al. Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. Exp Dermatol 1995; 4: 199-206.
    • (1995) Exp Dermatol , vol.4 , pp. 199-206
    • Pohla-Gubo, G.1    Lazarova, Z.2    Giudice, G.J.3
  • 7
    • 13344282732 scopus 로고    scopus 로고
    • Generalized atrophic benign epidermolysis bullosa. Either 180-kD bullous pemphigoid antigen or laminin-5 deficiency
    • Jonkman MF, De Jong MCJM, Heeres K et al. Generalized atrophic benign epidermolysis bullosa. Either 180-kD bullous pemphigoid antigen or laminin-5 deficiency. Arch Dermatol 1996; 132: 145-50.
    • (1996) Arch Dermatol , vol.132 , pp. 145-150
    • Jonkman, M.F.1    De Jong, M.C.J.M.2    Heeres, K.3
  • 8
    • 0028930755 scopus 로고
    • 180-kD bullous pemphigoid antigen (BP1 80) is deficient in generalized atrophic benign epidermolysis bullosa
    • Jonkman MF, De Jong MCJM, Heeres K et al. 180-kD bullous pemphigoid antigen (BP1 80) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 1995; 95: 1345-52.
    • (1995) J Clin Invest , vol.95 , pp. 1345-1352
    • Jonkman, M.F.1    De Jong, M.C.J.M.2    Heeres, K.3
  • 9
    • 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, Christiane 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: 83-6.
    • (1995) Nat Genet , vol.11 , pp. 83-86
    • McGrath, J.A.1    Gatalica, B.2    Christiane, A.M.3
  • 10
    • 0028919592 scopus 로고
    • Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB 3) in generalized atrophic benign epidermolysis bullosa
    • McGrath JA, Pulkkinen L, Christiano AM et al. Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB 3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1995; 104: 467-74.
    • (1995) J Invest Dermatol , vol.104 , pp. 467-474
    • McGrath, J.A.1    Pulkkinen, L.2    Christiano, A.M.3
  • 11
    • 0030975365 scopus 로고    scopus 로고
    • Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
    • Jonkman MF, Scheffer H, Stulp R et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 1997; 88: 543-51.
    • (1997) Cell , vol.88 , pp. 543-551
    • Jonkman, M.F.1    Scheffer, H.2    Stulp, R.3
  • 12
    • 8244226653 scopus 로고    scopus 로고
    • Premature termination codons are present on both alleles of bullous pemphigoid antigen 2/type XVII collagen gene in live Austrian families with generalized atrophic benign epidermolysis bullosa
    • Darling TN, McGrath JA, Yee C et al. Premature termination codons are present on both alleles of bullous pemphigoid antigen 2/type XVII collagen gene in live Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997; 108: 463-8.
    • (1997) J Invest Dermatol , vol.108 , pp. 463-468
    • Darling, T.N.1    McGrath, J.A.2    Yee, C.3
  • 13
    • 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: 352-65.
    • (1997) Am J Hum Genet , vol.60 , pp. 352-365
    • Gatalica, B.1    Pulkkinen, L.2    Li, K.3
  • 14
    • 0024438301 scopus 로고
    • Expression of an estrogen receptor-associated protein (p29) in epithelial tumors of the skin
    • Kanitakis J, Zambruno G, Viac J et al. Expression of an estrogen receptor-associated protein (p29) in epithelial tumors of the skin. J Cutan Pathol 1989; 16: 272-6.
    • (1989) J Cutan Pathol , vol.16 , pp. 272-276
    • Kanitakis, J.1    Zambruno, G.2    Viac, J.3
  • 15
    • 0026026364 scopus 로고
    • Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells
    • Owaribe K, Nishizawa Y, Franke WW. Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells. Exp Cell Res 1991; 192: 622-30.
    • (1991) Exp Cell Res , vol.192 , pp. 622-630
    • Owaribe, K.1    Nishizawa, Y.2    Franke, W.W.3
  • 16
    • 0023664709 scopus 로고
    • A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody
    • Sonnenberg A, Janssen H, Hogervorst F et al. A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody. J Biol Chem 1987; 262: 10376-83.
    • (1987) J Biol Chem , vol.262 , pp. 10376-10383
    • Sonnenberg, A.1    Janssen, H.2    Hogervorst, F.3
  • 17
    • 0025361355 scopus 로고
    • Production of rabbit antibodies against carboxyterminal epitopes encoded by bullous pemphigoid cDNA
    • Tanaka T, Korman NJ, Shimizu H et al. Production of rabbit antibodies against carboxyterminal epitopes encoded by bullous pemphigoid cDNA. J Invest Dermatol 1990; 94: 617-23.
    • (1990) J Invest Dermatol , vol.94 , pp. 617-623
    • Tanaka, T.1    Korman, N.J.2    Shimizu, H.3
  • 18
    • 0025974609 scopus 로고
    • Monoclonal antibody GB 3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa
    • Verrando P, Blanchet-Bardon C, Pisani A et al. Monoclonal antibody GB 3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest 1991; 64: 85-92.
    • (1991) Lab Invest , vol.64 , pp. 85-92
    • Verrando, P.1    Blanchet-Bardon, C.2    Pisani, A.3
  • 19
    • 0028987192 scopus 로고
    • Transforming growth factor-β1 modulates β1 and β5 integrin receptors and induces the de novo expression of the αvα6 heterodimer in normal human keratinocytes: Implications for wound healing
    • Zambruno G, Marchisio PC, Marconi A et al. Transforming growth factor-β1 modulates β1 and β5 integrin receptors and induces the de novo expression of the αvα6 heterodimer in normal human keratinocytes: implications for wound healing. J Cell Biol 1995; 129: 853-65.
    • (1995) J Cell Biol , vol.129 , pp. 853-865
    • Zambruno, G.1    Marchisio, P.C.2    Marconi, A.3
  • 20
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N, Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162: 156-9.
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 21
    • 0030793302 scopus 로고    scopus 로고
    • A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa
    • Chavanas S, Gache Y, Tadini G et al. A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997; 109: 74-8.
    • (1997) J Invest Dermatol , vol.109 , pp. 74-78
    • Chavanas, S.1    Gache, Y.2    Tadini, G.3
  • 22
    • 0028267893 scopus 로고
    • Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression
    • Baudoin C, Miquel C, Blanchet-Bardon C et al. Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression. J Clin Invest 1994; 93: 862-9.
    • (1994) J Clin Invest , vol.93 , pp. 862-869
    • Baudoin, C.1    Miquel, C.2    Blanchet-Bardon, C.3
  • 23
    • 0028310422 scopus 로고
    • The complete primary structure for a novel laminin chain, the laminin B1k chain
    • Gerecke D, Wagman DW, Champliaud MF et al. The complete primary structure for a novel laminin chain, the laminin B1k chain. J Biol Chem 1994; 269: 11073-80.
    • (1994) J Biol Chem , vol.269 , pp. 11073-11080
    • Gerecke, D.1    Wagman, D.W.2    Champliaud, M.F.3
  • 24
    • 0027953614 scopus 로고
    • The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant
    • Vailly J, Verrando P, Champliaud MF et al. The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant, Eur J Biochem 1994; 219: 209-18.
    • (1994) Eur J Biochem , vol.219 , pp. 209-218
    • Vailly, J.1    Verrando, P.2    Champliaud, M.F.3
  • 25
    • 0026327822 scopus 로고
    • Genomic organization of collagenous domains and chromosomal assignment of human 180kD bullous pemphigoid antigen (BPAG2). a novel collagen of stratified squamous epithelium
    • Li K, Sawamura D. Giudice GJ et al. Genomic organization of collagenous domains and chromosomal assignment of human 180kD bullous pemphigoid antigen (BPAG2). a novel collagen of stratified squamous epithelium. J Biol Chem 1991; 266: 24064-9.
    • (1991) J Biol Chem , vol.266 , pp. 24064-24069
    • Li, K.1    Sawamura, D.2    Giudice, G.J.3
  • 26
    • 0027255972 scopus 로고
    • Human autoantibodies against the 230-kD bullous pemphigoid antigen (BPAG1) bind only to the intracellular domain of the hemidesmosome. whereas those against the 180-kD hullous pemphigoid antigen (BPAG2) bind along the plasma membrane of the hemidesmosome in normal human and swine skin
    • Ishiko A, Shimizu H, Ebihara T et al. Human autoantibodies against the 230-kD bullous pemphigoid antigen (BPAG1) bind only to the intracellular domain of the hemidesmosome. whereas those against the 180-kD hullous pemphigoid antigen (BPAG2) bind along the plasma membrane of the hemidesmosome in normal human and swine skin. J Clin Invest 1993; 91: 1608-15.
    • (1993) J Clin Invest , vol.91 , pp. 1608-1615
    • Ishiko, A.1    Shimizu, H.2    Ebihara, T.3
  • 27
    • 0025053990 scopus 로고
    • Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera
    • Diaz LA. Ratrie H, Saunders WS et al. Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera. J Clin Invest 1990; 86: 1088-94.
    • (1990) J Clin Invest , vol.86 , pp. 1088-1094
    • Diaz, L.A.1    Ratrie, H.2    Saunders, W.S.3
  • 28
    • 0030019471 scopus 로고    scopus 로고
    • Cicatricial pemphigold autoantibodies react with multiple sites on the BP180 extracellular domain
    • Balding SD, Prost C, Diaz LA et al. Cicatricial pemphigold autoantibodies react with multiple sites on the BP180 extracellular domain. J Invest Dermatol 1996; 106: 141-6.
    • (1996) J Invest Dermatol , vol.106 , pp. 141-146
    • Balding, S.D.1    Prost, C.2    Diaz, L.A.3
  • 29
    • 0027520703 scopus 로고
    • A passive transfer model of the organ-specitic autoimmune disease, bullous pemphigoid, using antibodies generated against the hemidesmosomal antigen. BP180
    • Liu Z, Diaz LA. Troy JL et al. A passive transfer model of the organ-specitic autoimmune disease, bullous pemphigoid, using antibodies generated against the hemidesmosomal antigen. BP180, J Clin Invest 1993; 92: 2480-8.
    • (1993) J Clin Invest , vol.92 , pp. 2480-2488
    • Liu, Z.1    Diaz, L.A.2    Troy, J.L.3
  • 30
    • 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
    • McGrath J. Gatalica B, Li K et al. 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 1996; 148: 1787-96.
    • (1996) Am J Pathol , vol.148 , pp. 1787-1796
    • McGrath, J.1    Gatalica, B.2    Li, K.3
  • 31
    • 0031044043 scopus 로고    scopus 로고
    • The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa
    • McGrath J, Eady RAJ, The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa. J Dermatol Sci 1997; 14: 68-75.
    • (1997) J Dermatol Sci , vol.14 , pp. 68-75
    • McGrath, J.1    Eady, R.A.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.