메뉴 건너뛰기




Volumn 164, Issue 6, 2011, Pages 1280-1284

Junctional epidermolysis ·osa of late onset explained by mutations in COL17A1

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 17; MESSENGER RNA; AUTOANTIGEN; NONFIBRILLAR COLLAGEN;

EID: 79957610972     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10359.x     Document Type: Article
Times cited : (28)

References (24)
  • 1
    • 43449084027 scopus 로고    scopus 로고
    • The classification of inherited epidermolysis ·osa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
    • Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis ·osa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58: 931-50.
    • (2008) J Am Acad Dermatol , vol.58 , pp. 931-950
    • Fine, J.D.1    Eady, R.A.2    Bauer, E.A.3
  • 2
    • 70450240957 scopus 로고    scopus 로고
    • Non-Herlitz junctional epidermolysis ·osa
    • Yancey KB, Hintner H,. Non-Herlitz junctional epidermolysis ·osa. Dermatol Clin 2010; 28: 67-77.
    • (2010) Dermatol Clin , vol.28 , pp. 67-77
    • Yancey, K.B.1    Hintner, H.2
  • 4
    • 0023064206 scopus 로고
    • Epidermolysis ·osa progressiva
    • Haber RM, Hanna W,. Epidermolysis ·osa progressiva. J Am Acad Dermatol 1987; 16: 195-200.
    • (1987) J Am Acad Dermatol , vol.16 , pp. 195-200
    • Haber, R.M.1    Hanna, W.2
  • 5
    • 0026684920 scopus 로고
    • Late-onset localized junctional epidermolysis ·osa and mental retardation: A distinct autosomal recessive syndrome
    • Nakar S, Ingber A, Kremer I, et al. Late-onset localized junctional epidermolysis ·osa and mental retardation: a distinct autosomal recessive syndrome. Am J Med Genet 1992; 43: 776-9.
    • (1992) Am J Med Genet , vol.43 , pp. 776-779
    • Nakar, S.1    Ingber, A.2    Kremer, I.3
  • 6
    • 0035724841 scopus 로고    scopus 로고
    • Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis ·osa
    • Stouthamer A, Nieboer C, van der Waal RI, et al. Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis ·osa. Br J Dermatol 2001; 144: 1054-7.
    • (2001) Br J Dermatol , vol.144 , pp. 1054-1057
    • Stouthamer, A.1    Nieboer, C.2    Van Der Waal, R.I.3
  • 7
    • 0345136835 scopus 로고
    • Epidermolysis ·osa
    • (Emery A.E.H., Rimoin D.L., eds), 1st edn, Vol. New York: Churchill Livingstone.
    • Gedde-Dahl T Jr, Anton-Lamprecht I,. Epidermolysis ·osa. In: Principles and Practice of Medical Genetics (, Emery AEH, Rimoin DL, eds), 1st edn, Vol. 1. New York: Churchill Livingstone, 1983; 672-87.
    • (1983) Principles and Practice of Medical Genetics , vol.1 , pp. 672-687
    • Gedde-Dahl, Jr.T.1    Anton-Lamprecht, I.2
  • 8
    • 0026712482 scopus 로고
    • Expression of integrin alpha 6 beta 4 in junctional epidermolysis ·osa
    • Jonkman MF, de Jong MC, Heeres K, et al. Expression of integrin alpha 6 beta 4 in junctional epidermolysis ·osa. J Invest Dermatol 1992; 99: 489-96.
    • (1992) J Invest Dermatol , vol.99 , pp. 489-496
    • Jonkman, M.F.1    De Jong, M.C.2    Heeres, K.3
  • 9
    • 0028930755 scopus 로고
    • 180-kD ·ous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis ·osa
    • Jonkman MF, de Jong MC, Heeres K, et al. 180-kD ·ous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis ·osa. J Clin Invest 1995; 95: 1345-52.
    • (1995) J Clin Invest , vol.95 , pp. 1345-1352
    • Jonkman, M.F.1    De, J.M.2    Heeres, K.3
  • 10
    • 34248169121 scopus 로고    scopus 로고
    • Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
    • DOI 10.1172/JCI30465
    • Pasmooij AM, Pas HH, Bolling MC, et al. Revertant mosaicism in junctional epidermolysis ·osa due to multiple correcting second-site mutations in LAMB3. J Clin Invest 2007; 117: 1240-8. (Pubitemid 46718412)
    • (2007) Journal of Clinical Investigation , vol.117 , Issue.5 , pp. 1240-1248
    • Pasmooij, A.M.G.1    Pas, H.H.2    Bolling, M.C.3    Jonkman, M.F.4
  • 11
    • 34247359565 scopus 로고    scopus 로고
    • Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands
    • DOI 10.1111/j.1365-2133.2006.07730.x
    • Pasmooij AM, Pas HH, Jansen GH, et al. Localized and generalized forms of blistering in junctional epidermolysis ·osa due to COL17A1 mutations in the Netherlands. Br J Dermatol 2007; 156: 861-70. (Pubitemid 46642808)
    • (2007) British Journal of Dermatology , vol.156 , Issue.5 , pp. 861-870
    • Pasmooij, A.M.G.1    Pas, H.H.2    Jansen, G.H.L.3    Lemmink, H.H.4    Jonkman, M.F.5
  • 12
    • 64849093040 scopus 로고    scopus 로고
    • Autosomal dominant junctional epidermolysis ·osa
    • Almaani N, Liu L, Dopping-Hepenstal PJ, et al. Autosomal dominant junctional epidermolysis ·osa. Br J Dermatol 2009; 160: 1094-7.
    • (2009) Br J Dermatol , vol.160 , pp. 1094-1097
    • Almaani, N.1    Liu, L.2    Dopping-Hepenstal, P.J.3
  • 14
    • 0031746588 scopus 로고    scopus 로고
    • 180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: Report of four cases with an unusually mild phenotype
    • DOI 10.1046/j.1365-2133.1998.02226.x
    • Mazzanti C, Gobello T, Posteraro P, et al. 180-kDa ·ous pemphigoid antigen defective generalized atrophic benign epidermolysis ·osa: report of four cases with an unusually mild phenotype. Br J Dermatol 1998; 138: 859-66. (Pubitemid 28231530)
    • (1998) British Journal of Dermatology , vol.138 , Issue.5 , pp. 859-866
    • Mazzanti, C.1    Gobello, T.2    Posteraro, P.3    Paradisi, M.4    Meneguzzi, G.5    Chinni, L.6    Zambruno, G.7
  • 19
    • 0037272530 scopus 로고    scopus 로고
    • Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy
    • DOI 10.1046/j.1365-2230.2003.01192.x
    • Bauer JW, Lanschuetzer C,. Type XVII collagen gene mutations in junctional epidermolysis ·osa and prospects for gene therapy. Clin Exp Dermatol 2003; 28: 53-60. (Pubitemid 36197565)
    • (2003) Clinical and Experimental Dermatology , vol.28 , Issue.1 , pp. 53-60
    • Bauer, J.W.1    Lanschuetzer, C.2
  • 20
    • 0033739631 scopus 로고    scopus 로고
    • The extracellular domain of BPAG2 has a loop structure in the carboxy terminal flexible tail in vivo
    • Nonaka S, Ishiko A, Masunaga T, et al. The extracellular domain of BPAG2 has a loop structure in the carboxy terminal flexible tail in vivo. J Invest Dermatol 2000; 115: 889-92.
    • (2000) J Invest Dermatol , vol.115 , pp. 889-892
    • Nonaka, S.1    Ishiko, A.2    Masunaga, T.3
  • 21
    • 33644750323 scopus 로고    scopus 로고
    • Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa [3]
    • DOI 10.1038/sj.jid.5700024, PII 5700024
    • Fu CL, Giudice GJ, van den Bergh F,. Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis ·osa. J Invest Dermatol 2006; 126: 232-4. (Pubitemid 43336119)
    • (2006) Journal of Investigative Dermatology , vol.126 , Issue.1 , pp. 232-234
    • Fu, C.-L.1    Giudice, G.J.2    Van Den Bergh, F.3
  • 24
    • 36048939748 scopus 로고    scopus 로고
    • Biological function of laminin-5 and pathogenic impact of its deficiency
    • DOI 10.1016/j.ejcb.2006.07.004, PII S0171933506001324, Keratinocytes
    • Schneider H, Muhle C, Pacho F,. Biological function of laminin-5 and pathogenic impact of its deficiency. Eur J Cell Biol 2007; 86: 701-17. (Pubitemid 350082193)
    • (2007) European Journal of Cell Biology , vol.86 , Issue.11-12 , pp. 701-717
    • Schneider, H.1    Muhle, C.2    Pacho, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.