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

被引：17
作者：
Mazereeuw-Hautier, J. [1 ,2 ]
Leclerc, E. A. [1 ]
Simon, M. [1 ]
Serre, G. [1 ]
Jonca, N. [1 ]
机构：
[1] Univ Toulouse 3, CHU Toulouse, CNRS,INSERM,Hop Purpan, Differenciat Epiderm & Autoimmunite UMR 5165 U105, F-31059 Toulouse 9, France
[2] Hop Larrey, Ctr Reference Malad Rares Peau, Serv Dermatol, F-31059 Toulouse 9, France
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2011年 / 165卷 / 05期
关键词：
CORNEODESMOSIN; DIFFERENTIATION; DESMOSOMES; GENE;
D O I：
10.1111/j.1365-2133.2011.10529.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：1152 / 1155
页数：4
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共 11 条
  • [1] A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin
    Caubet, Cecile
    Bousset, Luc
    Clemmensen, Ole
    Sourigues, Yannick
    Bygum, Anette
    Chavanas, Stephane
    Coudane, Fanny
    Hsu, Chiung-Yueh
    Betz, Regina C.
    Melki, Ronald
    Simon, Michel
    Serre, Guy
    [J]. FASEB JOURNAL, 2010, 24 (09) : 3416 - 3426
  • [2] 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
    Guerrin, M
    Simon, M
    Montézin, M
    Haftek, M
    Vincent, C
    Serre, G
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (35) : 22640 - 22647
  • [3] Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin
    Israeli, Shirli
    Zamir, Hadas
    Sarig, Ofer
    Bergman, Reuven
    Sprecher, Eli
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 (03) : 779 - 781
  • [4] Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties
    Jonca, N
    Guerrin, M
    Hadjiolova, K
    Caubet, C
    Gallinaro, H
    Simon, M
    Serre, G
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (07) : 5024 - 5029
  • [5] Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
    Leclerc, Emilie A.
    Huchenq, Anne
    Mattiuzzo, Nicolas R.
    Metzger, Daniel
    Chambon, Pierre
    Ghyselinck, Norbert B.
    Serre, Guy
    Jonca, Nathalie
    Guerrin, Marina
    [J]. JOURNAL OF CELL SCIENCE, 2009, 122 (15) : 2699 - 2709
  • [6] THE PEELING SKIN SYNDROME
    LEVY, SB
    GOLDSMITH, LA
    [J]. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1982, 7 (05) : 606 - 613
  • [7] Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
    Levy-Nissenbaum, E
    Betz, RC
    Frydman, M
    Simon, M
    Lahat, H
    Bakhan, T
    Goldman, B
    Bygum, A
    Pierick, M
    Hillmer, AM
    Jonca, N
    Toribio, J
    Kruse, R
    Dewald, G
    Cichon, S
    Kubisch, C
    Guerrin, M
    Serre, G
    Nöthen, MM
    Pras, E
    [J]. NATURE GENETICS, 2003, 34 (02) : 151 - 153
  • [8] Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease
    Oji, Vinzenz
    Eckl, Katja-Martina
    Aufenvenne, Karin
    Naetebus, Marc
    Tarinski, Tatiana
    Ackermann, Katharina
    Seller, Natalia
    Metze, Dieter
    Nuernberg, Gudrun
    Foelster-Holst, Regina
    Schaefer-Korting, Monika
    Hausser, Ingrid
    Traupe, Heiko
    Hennies, Hans Christian
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (02) : 274 - 281
  • [9] 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
    VINCENT, C
    CROUTE, F
    REANO, A
    OUHAYOUN, JP
    BETTINGER, S
    SOLEILHAVOUP, JP
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1991, 97 (06) : 1061 - 1072
  • [10] Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation
    Simon, M
    Jonca, N
    Guerrin, M
    Haftek, M
    Bernard, D
    Caubet, C
    Egelrud, T
    Schmidt, R
    Serre, G
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (23) : 20292 - 20299
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