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Volumn 28, Issue 1, 2010, Pages 131-135

Lethal Acantholytic Epidermolysis Bullosa

Author keywords

Desmoplakin; Desmosome; Genodermatosis; Keratin; Keratinocyte; Skin fragility

Indexed keywords

DESMOPLAKIN; KERATIN;

EID: 70450267633     PISSN: 07338635     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.det.2009.10.015     Document Type: Review
Times cited : (29)

References (17)
  • 1
    • 25444463595 scopus 로고    scopus 로고
    • Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
    • Jonkman M.F., Pasmooij A.M., Pasmans S.G., et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 77 (2005) 653-660
    • (2005) Am J Hum Genet , vol.77 , pp. 653-660
    • Jonkman, M.F.1    Pasmooij, A.M.2    Pasmans, S.G.3
  • 2
    • 20644437528 scopus 로고    scopus 로고
    • Desmoplakin is required early in development for assembly of desmosomes and cystoskeletal linkage
    • Gallicano G.I., Kouklis P., Bauer C., et al. Desmoplakin is required early in development for assembly of desmosomes and cystoskeletal linkage. J Cell Biol 143 (1998) 2009-2022
    • (1998) J Cell Biol , vol.143 , pp. 2009-2022
    • Gallicano, G.I.1    Kouklis, P.2    Bauer, C.3
  • 3
    • 0036178690 scopus 로고    scopus 로고
    • Compound heterozygosity for nonsense and missense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
    • Whittock N.V., Wan H., Morley S.M., et al. Compound heterozygosity for nonsense and missense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118 (2002) 232-238
    • (2002) J Invest Dermatol , vol.118 , pp. 232-238
    • Whittock, N.V.1    Wan, H.2    Morley, S.M.3
  • 4
    • 0036316492 scopus 로고    scopus 로고
    • Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure
    • Choi H.J., Park-Snyder S., Pascoe L.T., et al. Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure. Nat Struct Biol 9 (2002) 612-620
    • (2002) Nat Struct Biol , vol.9 , pp. 612-620
    • Choi, H.J.1    Park-Snyder, S.2    Pascoe, L.T.3
  • 5
    • 0038247863 scopus 로고    scopus 로고
    • Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus
    • Fontao L., Favre B., Riou S., et al. Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus. Mol Biol Cell 14 (2003) 1977-1992
    • (2003) Mol Biol Cell , vol.14 , pp. 1977-1992
    • Fontao, L.1    Favre, B.2    Riou, S.3
  • 6
    • 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) 240-244
    • (1997) Nat Genet , vol.17 , pp. 240-244
    • McGrath, J.A.1    McMillan, J.R.2    Shemanko, C.S.3
  • 7
    • 17444398948 scopus 로고    scopus 로고
    • Molecular abnormalities of the desmosomal protein desmoplakin in human disease
    • Lai-Cheong, Wessagowit V., and McGrath J.A. Molecular abnormalities of the desmosomal protein desmoplakin in human disease. Clin Exp Dermatol 30 (2005) 261-266
    • (2005) Clin Exp Dermatol , vol.30 , pp. 261-266
    • Lai-Cheong1    Wessagowit, V.2    McGrath, J.A.3
  • 9
    • 0032930569 scopus 로고    scopus 로고
    • Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
    • Armstrong D.K., McKenna K.E., Purkis P.E., et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 8 (1999) 143-148
    • (1999) Hum Mol Genet , vol.8 , pp. 143-148
    • Armstrong, D.K.1    McKenna, K.E.2    Purkis, P.E.3
  • 10
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    • Norgett E.E., Hatsell S.J., Carvajal-Huerta L., et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9 (2000) 2761-2766
    • (2000) Hum Mol Genet , vol.9 , pp. 2761-2766
    • Norgett, E.E.1    Hatsell, S.J.2    Carvajal-Huerta, L.3
  • 11
    • 0032104190 scopus 로고    scopus 로고
    • A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
    • Nagy E., and Maquat L.E. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 23 (1998) 198-199
    • (1998) Trends Biochem Sci , vol.23 , pp. 198-199
    • Nagy, E.1    Maquat, L.E.2
  • 12
    • 0023990634 scopus 로고    scopus 로고
    • Isolation of cDNAs encoding desmosomal plaque proteins: evidence that bovine desmoplakins I and II are derived from two mRNAs and a single gene
    • Green K.J., Goldman R.D., and Chisholm R.L. Isolation of cDNAs encoding desmosomal plaque proteins: evidence that bovine desmoplakins I and II are derived from two mRNAs and a single gene. Proc Natl Acad Sci U S A 85 (1998) 2613-2617
    • (1998) Proc Natl Acad Sci U S A , vol.85 , pp. 2613-2617
    • Green, K.J.1    Goldman, R.D.2    Chisholm, R.L.3
  • 13
    • 0037811950 scopus 로고    scopus 로고
    • A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder and woolly hair
    • Alcalai R., Metzger S., Rosenheck S., et al. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder and woolly hair. J Am Coll Cardiol 42 (2003) 319-327
    • (2003) J Am Coll Cardiol , vol.42 , pp. 319-327
    • Alcalai, R.1    Metzger, S.2    Rosenheck, S.3
  • 14
    • 33646558843 scopus 로고    scopus 로고
    • Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
    • Uzumcu A., Norgett E.E., Dindar A., et al. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet 43 (2006) e5
    • (2006) J Med Genet , vol.43
    • Uzumcu, A.1    Norgett, E.E.2    Dindar, A.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
  • 16
    • 34147206221 scopus 로고    scopus 로고
    • Molecular genetics of arrhythomogenic right ventricular cardiomyopathy: emerging horizon?
    • Van Tintelen J.P., Hofstra R.M., Wiesfeld A.C., et al. Molecular genetics of arrhythomogenic right ventricular cardiomyopathy: emerging horizon?. Curr Opin Cardiol 22 (2007) 185-192
    • (2007) Curr Opin Cardiol , vol.22 , pp. 185-192
    • Van Tintelen, J.P.1    Hofstra, R.M.2    Wiesfeld, A.C.3
  • 17
    • 70449473084 scopus 로고    scopus 로고
    • Skin and heart: une liaison dangereuse
    • Bolling M.C., and Jonkman M.F. Skin and heart: une liaison dangereuse. Exp Dermatol 18 (2009) 658-668
    • (2009) Exp Dermatol , vol.18 , pp. 658-668
    • Bolling, M.C.1    Jonkman, M.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.