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Volumn 165, Issue 5, 2011, Pages 1152-1155

A novel mutation in CDSN causes peeling skin disease in a patient from Morocco

Author keywords

[No Author keywords available]

Indexed keywords

ANTIHISTAMINIC AGENT; CORNEODESMOSIN; CYTOKERATIN 1; CYTOKERATIN 10; DESMOCOLLIN; DESMOGLEIN 1; EMOLLIENT AGENT; FILAGGRIN; GLYCOPROTEIN; LORICRIN; UNCLASSIFIED DRUG; CDSN PROTEIN, HUMAN;

EID: 84856447167     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10529.x     Document Type: Letter
Times cited : (17)

References (11)
  • 3
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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. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 2010; 87:274-81.
    • (2010) Am J Hum Genet , vol.87 , pp. 274-281
    • Oji, V.1    Eckl, K.M.2    Aufenvenne, K.3
  • 4
    • 79951497066 scopus 로고    scopus 로고
    • Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin
    • Israeli S, Zamir H, Sarig O et al. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol 2011; 131:779-81.
    • (2011) J Invest Dermatol , vol.131 , pp. 779-781
    • Israeli, S.1    Zamir, H.2    Sarig, O.3
  • 5
    • 0035827559 scopus 로고    scopus 로고
    • Refined characterization of cor-neodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation
    • Simon M, Jonca N, Guerrin M et al. Refined characterization of cor-neodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 2001; 276:20292-9.
    • (2001) J Biol Chem , vol.276 , pp. 20292-20299
    • Simon, M.1    Jonca, N.2    Guerrin, M.3
  • 6
    • 0032575563 scopus 로고    scopus 로고
    • Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation
    • DOI 10.1074/jbc.273.35.22640
    • Guerrin M, Simon M, Montézin M et al. Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation. J Biol Chem 1998; 273:22640-7. (Pubitemid 28399834)
    • (1998) Journal of Biological Chemistry , vol.273 , Issue.35 , pp. 22640-22647
    • Guerrin, M.1    Simon, M.2    Montezin, M.3    Haftek, M.4    Vincent, C.5    Serre, G.6
  • 7
    • 0026052977 scopus 로고
    • Identification of late differentiation antigens of human cornified epithelia, expressed in re-organized desmosomes and bound to cross-linked envelope
    • Serre G, Mils V, Haftek M et al. Identification of late differentiation antigens of human cornified epithelia, expressed in re-organized desmosomes and bound to cross-linked envelope. J Invest Dermatol 1991; 97:1061-72.
    • (1991) J Invest Dermatol , vol.97 , pp. 1061-1072
    • Serre, G.1    Mils, V.2    Haftek, M.3
  • 9
    • 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. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. J Cell Sci 2009; 122:2699-709.
    • (2009) J Cell Sci , vol.122 , pp. 2699-2709
    • Leclerc, E.A.1    Huchenq, A.2    Mattiuzzo, N.R.3
  • 11
    • 77956635278 scopus 로고    scopus 로고
    • A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin
    • Caubet C, Bousset L, Clemmensen O et al. A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J 2010; 24:3416-26.
    • (2010) FASEB J , vol.24 , pp. 3416-3426
    • Caubet, C.1    Bousset, L.2    Clemmensen, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.