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Volumn 138, Issue 2, 1998, Pages 315-320

Sporadic dystrophic epidermolysis bullosa with concomitant atopic dermatitis

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATOPIC DERMATITIS; CASE REPORT; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL;

EID: 0031940883     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1998.02082.x     Document Type: Article
Times cited : (11)

References (19)
  • 1
    • 0027261282 scopus 로고
    • Dystrophic forms of epidermolysis bullosa
    • Uitto J, Christiano AM. Dystrophic forms of epidermolysis bullosa. Semin Dermatol 1993; 12: 191-201.
    • (1993) Semin Dermatol , vol.12 , pp. 191-201
    • Uitto, J.1    Christiano, A.M.2
  • 2
    • 0023035458 scopus 로고
    • Type VII collagen is the major structural component of the anchoring fibrils
    • Sakai LY, Keene DR, Morris NP, Burgeson RE. Type VII collagen is the major structural component of the anchoring fibrils. J Cell Biol 1986; 103: 1577-86.
    • (1986) J Cell Biol , vol.103 , pp. 1577-1586
    • Sakai, L.Y.1    Keene, D.R.2    Morris, N.P.3    Burgeson, R.E.4
  • 3
    • 0029918880 scopus 로고    scopus 로고
    • Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance
    • Christiano AM, McGrath JA, Tan KC, Uitto J. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 1996; 58: 671-81.
    • (1996) Am J Hum Genet , vol.58 , pp. 671-681
    • Christiano, A.M.1    McGrath, J.A.2    Tan, K.C.3    Uitto, J.4
  • 4
    • 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: 682-93.
    • (1996) Am J Hum Genet , vol.58 , pp. 682-693
    • Christiano, A.M.1    Anton-Lamprecht, I.2    Amano, S.3
  • 5
    • 0029969527 scopus 로고    scopus 로고
    • Genetic basis of Bart's syndrome: A glycine substitution mutation in type VII collagen gene
    • Christiano AM, Bart BJ, Epstein EH Jr, Uitto J. Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene. J Invest Dermatol 1996; 106: 778-80.
    • (1996) J Invest Dermatol , vol.106 , pp. 778-780
    • Christiano, A.M.1    Bart, B.J.2    Epstein Jr., E.H.3    Uitto, J.4
  • 6
    • 0029330198 scopus 로고
    • Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa
    • Uitto J, Hovnanian A, Christiano AM. Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa. Proc Assoc Am Phys 1995; 107: 245-52.
    • (1995) Proc Assoc Am Phys , vol.107 , pp. 245-252
    • Uitto, J.1    Hovnanian, A.2    Christiano, A.M.3
  • 7
    • 0028926566 scopus 로고
    • A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa
    • Christiano AM, Morricone A, Paradisi M et al. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. J Invest Dermatol 1995; 104: 438-40.
    • (1995) J Invest Dermatol , vol.104 , pp. 438-440
    • Christiano, A.M.1    Morricone, A.2    Paradisi, M.3
  • 8
    • 0029085355 scopus 로고
    • Pretibial epidermolysis bullosa: Genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen
    • Christiano AM, Lee JY, Chen WJ et al. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. Hum Mol Genet 1995; 4: 1579-83.
    • (1995) Hum Mol Genet , vol.4 , pp. 1579-1583
    • Christiano, A.M.1    Lee, J.Y.2    Chen, W.J.3
  • 9
    • 0026067709 scopus 로고
    • Revised clinical and laboratory criteria for subtypes of inherited epidermolvsis bullosa
    • Fine J-D, Bauer EA, Briggaman RA et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolvsis bullosa. J Am Acad Dermatol 1991; 24: 199-235.
    • (1991) J Am Acad Dermatol , vol.24 , pp. 199-235
    • Fine, J.-D.1    Bauer, E.A.2    Briggaman, R.A.3
  • 10
    • 0028234038 scopus 로고
    • Epidermolysis bullosa pruriginosa: Dystrophic epidermolysis bullosa with distinctive clinicopathological features
    • McGrath JA, Schofield OMV, Eady RAJ. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617-25.
    • (1994) Br J Dermatol , vol.130 , pp. 617-625
    • McGrath, J.A.1    Schofield, O.M.V.2    Eady, R.A.J.3
  • 11
    • 0027429606 scopus 로고
    • Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa
    • Lapiere JC, Woodley DT, Parente MG et al. Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa. J Clin Invest 1993; 92: 1831-9.
    • (1993) J Clin Invest , vol.92 , pp. 1831-1839
    • Lapiere, J.C.1    Woodley, D.T.2    Parente, M.G.3
  • 12
    • 0023614556 scopus 로고
    • LH 7.2 monoclonal antibody detects type VII collagen in the sub-lamina densa zone of the ectodermally derived epithelia including skin
    • Leigh IM, Purkis PE, Bruckner-Tuderman L. LH 7.2 monoclonal antibody detects type VII collagen in the sub-lamina densa zone of the ectodermally derived epithelia including skin. Epithelia 1987; 1: 17-20.
    • (1987) Epithelia , vol.1 , pp. 17-20
    • Leigh, I.M.1    Purkis, P.E.2    Bruckner-Tuderman, L.3
  • 13
    • 0027985051 scopus 로고
    • Identification of the epitopes on human type VII collagen for monoclonal antibodies LH 7.2 and clone 1, 185
    • Lapiere JC, Hu L, Iwasaki T et al. Identification of the epitopes on human type VII collagen for monoclonal antibodies LH 7.2 and clone 1, 185. J Dermatol Sci 1994; 8: 145-50.
    • (1994) J Dermatol Sci , vol.8 , pp. 145-150
    • Lapiere, J.C.1    Hu, L.2    Iwasaki, T.3
  • 14
    • 0001166951 scopus 로고
    • A formaldehyde-glutaraldehyde fixative of high osmolarity for use in electron microscopy
    • Karnovsky MJ. A formaldehyde-glutaraldehyde fixative of high osmolarity for use in electron microscopy. J Cell Biol 1965; 27: 137A.
    • (1965) J Cell Biol , vol.27
    • Karnovsky, M.J.1
  • 15
    • 84907126089 scopus 로고
    • Embedding in epoxy resins for ultrathin sectioning in electron microscopy
    • Richardson KC, Jarett L, Finke EH. Embedding in epoxy resins for ultrathin sectioning in electron microscopy. Stain Technol 1960; 35: 313-23.
    • (1960) Stain Technol , vol.35 , pp. 313-323
    • Richardson, K.C.1    Jarett, L.2    Finke, E.H.3
  • 16
    • 0030070588 scopus 로고    scopus 로고
    • Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa
    • Christiano AM, Uitto J. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 1996; 5: 1-11.
    • (1996) Exp Dermatol , vol.5 , pp. 1-11
    • Christiano, A.M.1    Uitto, J.2
  • 17
    • 0025834388 scopus 로고
    • Human type VII collagen: CDNA cloning and chromosomal mapping of the gene
    • Parente MG, Chung LC, Ryynanen J et al. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci USA 1991; 88: 6931-5.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 6931-6935
    • Parente, M.G.1    Chung, L.C.2    Ryynanen, J.3
  • 18
    • 0028087325 scopus 로고
    • Atopic dermatitis: Recent trends in pathogenesis and therapy
    • Cooper KD. Atopic dermatitis: recent trends in pathogenesis and therapy. J Invest Dermatol 1994; 103: 128-37.
    • (1994) J Invest Dermatol , vol.103 , pp. 128-137
    • Cooper, K.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.