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Volumn 51, Issue 3, 2010, Pages 212-214

Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator

Author keywords

Epidermolysis Bullosa; Genodermatosis; Immunofluorescence Mapping; Prognosis

Indexed keywords

CYSTEINE;

EID: 77955293218     PISSN: 00048380     EISSN: 14400960     Source Type: Journal    
DOI: 10.1111/j.1440-0960.2010.00666.x     Document Type: Article
Times cited : (4)

References (13)
  • 1
    • 70450285355 scopus 로고    scopus 로고
    • Epidermolysis bullosa with pyloric atresia
    • Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol. Clin. 2010 1 : 43 54.
    • (2010) Dermatol. Clin. , vol.1 , pp. 43-54
    • Chung, H.J.1    Uitto, J.2
  • 2
    • 53349151951 scopus 로고    scopus 로고
    • Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not a predictor of poor outcome: Three novel mutations and a review of the literature
    • Dang N, Klingberg S, Rubin A et al. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not a predictor of poor outcome: three novel mutations and a review of the literature. Acta Derm. Venereol. 2008 88 : 438 448.
    • (2008) Acta Derm. Venereol. , vol.88 , pp. 438-448
    • Dang, N.1    Klingberg, S.2    Rubin, A.3
  • 3
    • 16844381122 scopus 로고    scopus 로고
    • Progress in epidermolysis bullosa: The phenotypic spectrum of plectin mutations
    • DOI 10.1111/j.0906-6705.2005.00324.x
    • Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: the phenotypical spectrum of plectin mutations. Exp. Dermatol. 2005 14 : 241 249. (Pubitemid 40485451)
    • (2005) Experimental Dermatology , vol.14 , Issue.4 , pp. 241-249
    • Pfendner, E.1    Rouan, F.2    Uitto, J.3
  • 4
    • 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
  • 5
    • 8344277955 scopus 로고    scopus 로고
    • Intracellular degredation of B4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia
    • Micheloni A, De Luca N, Tadini G et al. Intracellular degredation of B4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. Br. J. Dermatol. 2004 151 : 796 802.
    • (2004) Br. J. Dermatol. , vol.151 , pp. 796-802
    • Micheloni, A.1    De Luca, N.2    Tadini, G.3
  • 6
    • 77955285554 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, Pulkinnen L, Murrell D et al. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr. Res. 2001 63 : 1376 1387.
    • (2001) Pediatr. Res. , vol.63 , pp. 1376-1387
    • Nakano, A.1    Pulkinnen, L.2    Murrell, D.3
  • 7
    • 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
  • 8
    • 0034068641 scopus 로고    scopus 로고
    • A homozygous missense mutation in the cytoplasmic tail of beta 4 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 beta 4 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
  • 9
    • 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
  • 10
    • 0035670672 scopus 로고    scopus 로고
    • Two different mutations in the cytoplasmic domain of integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin
    • Koster J, Kuikman I, Kreft M. Two different mutations in the cytoplasmic domain of integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin. J. Invest. Dermatol. 2001 117 : 1405 1411.
    • (2001) J. Invest. Dermatol. , vol.117 , pp. 1405-1411
    • Koster, J.1    Kuikman, I.2    Kreft, M.3
  • 11
    • 0842329610 scopus 로고    scopus 로고
    • Pyloric-atresia junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta 4 gene (ITGB4)
    • Masunaga T, Ishiko A, Takizawa Y. Pyloric-atresia junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta 4 gene (ITGB4). Exp. Dermatol. 2004 13 : 61 4.
    • (2004) Exp. Dermatol. , vol.13 , pp. 61-4
    • Masunaga, T.1    Ishiko, A.2    Takizawa, Y.3
  • 12
    • 0032231297 scopus 로고    scopus 로고
    • Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with congenital pyloric atresia: Missense versus nonsense
    • Pulkinnen L, Rouan F, Bruckner-Tuderman L et al. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with congenital pyloric atresia: missense versus nonsense. Am. J. Hum. Genetics. 1998 63 : 1376 1387.
    • (1998) Am. J. Hum. Genetics. , vol.63 , pp. 1376-1387
    • Pulkinnen, L.1    Rouan, F.2    Bruckner-Tuderman, L.3
  • 13
    • 0025020280 scopus 로고
    • Amino acid sequence of a novel integrin beta4 subunit and primary expression of the mRNA in epithelial cells
    • Suzuki S, Naitoh Y. Amino acid sequence of a novel integrin beta4 subunit and primary expression of the mRNA in epithelial cells. EMBO J. 1990 9 : 757 763.
    • (1990) EMBO J. , vol.9 , pp. 757-763
    • Suzuki, S.1    Naitoh, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.