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Volumn 28, Issue 1, 2010, Pages 125-129

Ectodermal Dysplasia-Skin Fragility Syndrome

Author keywords

Blister; Cell adhesion; Desmosome; Genodermatosis; Keratinocyte

Indexed keywords

DESMOCOLLIN; DESMOGLEIN 1; DESMOGLEIN 2; DESMOPLAKIN; PLAKOGLOBIN; PLAKOPHILIN;

EID: 70649094316     PISSN: 07338635     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.det.2009.10.014     Document Type: Review
Times cited : (51)

References (16)
  • 1
    • 84984774604 scopus 로고    scopus 로고
    • Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
    • McGrath J.A., McMillan J.R., Shemanko C.S., et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17 (1997) 241-244
    • (1997) Nat Genet , vol.17 , pp. 241-244
    • McGrath, J.A.1    McMillan, J.R.2    Shemanko, C.S.3
  • 2
    • 43449084027 scopus 로고    scopus 로고
    • The classification of inherited epidermolysis bullosa (EB): report of the third International Consensus Meeting on diagnosis and classification of EB
    • Fine J.D., Eady R.A., Bauer E.A., et al. The classification of inherited epidermolysis bullosa (EB): report of the third International Consensus Meeting on diagnosis and classification of EB. J Am Acad Dermatol 58 (2008) 931-950
    • (2008) J Am Acad Dermatol , vol.58 , pp. 931-950
    • Fine, J.D.1    Eady, R.A.2    Bauer, E.A.3
  • 3
    • 35348927451 scopus 로고    scopus 로고
    • Desmosomes: new perspectives on a classic
    • Green K.J., and Simpson C.L. Desmosomes: new perspectives on a classic. J Invest Dermatol 127 (2007) 2499-2515
    • (2007) J Invest Dermatol , vol.127 , pp. 2499-2515
    • Green, K.J.1    Simpson, C.L.2
  • 5
    • 70649115112 scopus 로고    scopus 로고
    • Plakophilin 1: an important stabilizer of desmosomes
    • South A.P. Plakophilin 1: an important stabilizer of desmosomes. Clin Exp Dermatol 108 (1997) 139-146
    • (1997) Clin Exp Dermatol , vol.108 , pp. 139-146
    • South, A.P.1
  • 6
    • 0030856140 scopus 로고    scopus 로고
    • Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components
    • Schmidt A., Langbein L., Rode M., et al. Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res 290 (1997) 481-499
    • (1997) Cell Tissue Res , vol.290 , pp. 481-499
    • Schmidt, A.1    Langbein, L.2    Rode, M.3
  • 7
    • 33745219875 scopus 로고    scopus 로고
    • Carboxyl terminus of plakophilin 1 recruits to its plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly
    • Sobolik-Delmaire T., Katafiasz D., and Wahl III J.K. Carboxyl terminus of plakophilin 1 recruits to its plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly. J Biol Chem 281 (2006) 16962-16970
    • (2006) J Biol Chem , vol.281 , pp. 16962-16970
    • Sobolik-Delmaire, T.1    Katafiasz, D.2    Wahl III, J.K.3
  • 8
    • 0032988426 scopus 로고    scopus 로고
    • Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
    • McGrath J.A., Hoeger P.H., Christiano A.M., et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol 140 (1999) 297-307
    • (1999) Br J Dermatol , vol.140 , pp. 297-307
    • McGrath, J.A.1    Hoeger, P.H.2    Christiano, A.M.3
  • 9
    • 0033832770 scopus 로고    scopus 로고
    • Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
    • Whittock N.V., Haftek M., Angoulvant N., et al. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 15 (2000) 368-374
    • (2000) J Invest Dermatol , vol.15 , pp. 368-374
    • Whittock, N.V.1    Haftek, M.2    Angoulvant, N.3
  • 10
    • 0036548393 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
    • Hamada T., South A.P., Mitsuhashi Y., et al. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 11 (2002) 107-114
    • (2002) Exp Dermatol , vol.11 , pp. 107-114
    • Hamada, T.1    South, A.P.2    Mitsuhashi, Y.3
  • 11
    • 1842639453 scopus 로고    scopus 로고
    • Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families
    • Sprecher E., Molho-Pessach V., Ingber A., et al. Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. J Invest Dermatol 122 (2004) 647-651
    • (2004) J Invest Dermatol , vol.122 , pp. 647-651
    • Sprecher, E.1    Molho-Pessach, V.2    Ingber, A.3
  • 12
    • 2442621021 scopus 로고    scopus 로고
    • Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin 1 gene
    • Steijlen P.M., van Steensel M.A., Jansen B.J., et al. Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin 1 gene. J Invest Dermatol 122 (2004) 1321-1324
    • (2004) J Invest Dermatol , vol.122 , pp. 1321-1324
    • Steijlen, P.M.1    van Steensel, M.A.2    Jansen, B.J.3
  • 13
    • 25144445920 scopus 로고    scopus 로고
    • Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome
    • Zheng R., Bu D.F., and Zhu X.J. Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 85 (2005) 394-399
    • (2005) Acta Derm Venereol , vol.85 , pp. 394-399
    • Zheng, R.1    Bu, D.F.2    Zhu, X.J.3
  • 14
    • 33744983767 scopus 로고    scopus 로고
    • Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888 delC, in the desmosomal protein plakophilin 1
    • Ersoy-Evans S., Erkin G., Fassihi H., et al. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888 delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol 55 (2006) 157-161
    • (2006) J Am Acad Dermatol , vol.55 , pp. 157-161
    • Ersoy-Evans, S.1    Erkin, G.2    Fassihi, H.3
  • 15
    • 60449095643 scopus 로고    scopus 로고
    • Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families
    • Tanaka A., Lai-Cheong J.E., Café M.E., et al. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Br J Dermatol 160 (2009) 692-697
    • (2009) Br J Dermatol , vol.160 , pp. 692-697
    • Tanaka, A.1    Lai-Cheong, J.E.2    Café, M.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.