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Volumn 131, Issue 3, 2011, Pages 779-781

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin

Author keywords

[No Author keywords available]

Indexed keywords

CORNEODESMOSIN; GLYCOPROTEIN; UNCLASSIFIED DRUG;

EID: 79951497066     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.363     Document Type: Letter
Times cited : (45)

References (18)
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    • A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin
    • Caubet C, Bousset L, Clemmensen O et al. (2010) A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J 24:3416-26
    • (2010) FASEB J , vol.24 , pp. 3416-3426
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  • 5
    • 66749163178 scopus 로고    scopus 로고
    • A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming
    • Fallon PG, Sasaki T, Sandilands A et al. (2009) A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet 41:602-8
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    • Fallon, P.G.1    Sasaki, T.2    Sandilands, A.3
  • 6
    • 0024581066 scopus 로고
    • Epidermolysis bullosa simplex superficialis: A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin sydrome
    • DOI 10.1001/archderm.125.5.633
    • Fine JD, Johnson L, Wright T (1989) Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. Arch Dermatol 125: 633-8 (Pubitemid 19129068)
    • (1989) Archives of Dermatology , vol.125 , Issue.5 , pp. 633-638
    • Fine, J.-D.1    Johnson, L.2    Wright, T.3
  • 7
    • 1842639321 scopus 로고    scopus 로고
    • A 4.2 kb upstream region of the human corneodesmosin gene directs site-specific expression in hair follicles and hyperkeratotic epidermis of transgenic mice
    • DOI 10.1111/j.0022-202X.2004.22306.x
    • Gallinaro H, Jonca N, Langbein L et al. (2004) A 4.2kb upstream region of the human corneo-desmosin gene directs site-specific expression in hair follicles and hyperkeratotic epidermis of transgenic mice. J Invest Der-matol 122:730-8 (Pubitemid 38471343)
    • (2004) Journal of Investigative Dermatology , vol.122 , Issue.3 , pp. 730-738
    • Gallinaro, H.1    Jonca, N.2    Langbein, L.3    Vincent, C.4    Simon, M.5    Serre, G.6    Guerrin, M.7
  • 8
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    • Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5
    • DOI 10.1159/000084755
    • Geyer AS, Ratajczak P, Pol-Rodriguez M et al. (2005) Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5. Dermatology 210:308-14 (Pubitemid 40976738)
    • (2005) Dermatology , vol.210 , Issue.4 , pp. 308-314
    • Geyer, A.S.1    Ratajczak, P.2    Pol-Rodriguez, M.3    Millar, W.S.4    Garzon, M.5    Richard, G.6
  • 9
    • 0021917317 scopus 로고
    • Skin peeling syndrome in a Kurdish family
    • DOI 10.1001/archderm.121.4.545
    • Hacham-Zadeh S, Holubar K (1985) Skin peeling syndrome in a Kurdish family. Arch Dermatol 121:545-6 (Pubitemid 15100853)
    • (1985) Archives of Dermatology , vol.121 , Issue.4 , pp. 545-546
    • Hacham-Zadeh, S.1    Holubar, K.2
  • 11
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    • A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family
    • Kharfi M, El Fekih N, Ammar D et al. (2009) A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. J Invest Dermatol 129:2512-5
    • (2009) J Invest Dermatol , vol.129 , pp. 2512-2515
    • Kharfi, M.1    El Fekih, N.2    Ammar, D.3
  • 12
    • 69549096268 scopus 로고    scopus 로고
    • Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
    • Leclerc EA, Huchenq A, Mattiuzzo NR et al. (2009) Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. J Cell Sci 122:2699-709
    • (2009) J Cell Sci , vol.122 , pp. 2699-2709
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  • 15
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    • Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: Unraveling the peeling skin disease
    • Oji V, Eckl KM, Aufenvenne K et al. (2010) Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 87:274-81
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    • Oji, V.1    Eckl, K.M.2    Aufenvenne, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.