Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations

被引:14
作者
Bolling, Maria C. [1 ]
Jan, Sabrina Z. [2 ]
Pasmooij, Anna M. G. [1 ]
Lemmink, Henny H. [2 ]
Franke, Lude H. [2 ]
Yenamandra, Vamsi K. [1 ]
Sinke, Richard J. [2 ]
van den Akker, Peter C. [2 ]
Jonkman, Marcel F. [1 ]
机构
[1] Univ Groningen, Univ Med Ctr Groningen, Dept Dermatol, Ctr Blistering Dis, Groningen, Netherlands
[2] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
关键词
ATOPIC-DERMATITIS; GENE;
D O I
10.1016/j.jid.2018.01.038
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
[No abstract available]
引用
收藏
页码:1881 / 1884
页数:4
相关论文
共 12 条
  • [1] Peeling skin syndrome associated with novel variant in FLG2 gene
    Alfares, Ahmed
    Al-Khenaizan, Sultan
    Al Mutairi, Fuad
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (12) : 3201 - 3204
  • [2] Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion
    Blaydon, Diana C.
    Nitoiu, Daniela
    Eckl, Katja-Martina
    Cabral, Rita M.
    Bland, Philip
    Hausser, Ingrid
    van Heel, David A.
    Rajpopat, Shefali
    Fischer, Judith
    Oji, Vinzenz
    Zvulunov, Alex
    Traupe, Heiko
    Hennies, Hans Christian
    Kelsell, David P.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (04) : 564 - 571
  • [3] Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome
    Cabral, Rita M.
    Kurban, Mazen
    Wajid, Muhammad
    Shimomura, Yutaka
    Petukhova, Lynn
    Christiano, Angela M.
    [J]. GENOMICS, 2012, 99 (04) : 202 - 208
  • [4] A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome
    Cassidy, AJ
    van Steensel, MAM
    Steijlen, PM
    van Geel, M
    van der Velden, J
    Morley, SM
    Terrinoni, A
    Melino, G
    Candi, E
    McLean, WHI
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (06) : 909 - 917
  • [5] Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes
    Franke, Lude
    van Bakel, Harm
    Fokkens, Like
    de Jong, Edwin D.
    Egmont-Petersen, Michael
    Wijmenga, Cisca
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (06) : 1011 - 1025
  • [6] CHARACTERIZATION OF A PHOSPHORYLATED FORM OF THE INTERMEDIATE FILAMENT-AGGREGATING PROTEIN FILAGGRIN
    LONSDALEECCLES, JD
    TELLER, DC
    DALE, BA
    [J]. BIOCHEMISTRY, 1982, 21 (23) : 5940 - 5948
  • [7] Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects
    Margolis, David J.
    Gupta, Jayanta
    Apter, Andrea J.
    Ganguly, Tapan
    Hoffstad, Ole
    Papadopoulos, Maryte
    Rebbeck, Tim R.
    Mitra, Nandita
    [J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (03) : 784 - 789
  • [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] In a three-dimensional reconstructed human epidermis filaggrin-2 is essential for proper cornification
    Pendaries, V.
    Le Lamer, M.
    Cau, L.
    Hansmann, B.
    Malaisse, J.
    Kezic, S.
    Serre, G.
    Simon, M.
    [J]. CELL DEATH & DISEASE, 2015, 6 : e1656 - e1656
  • [10] Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions
    Pigors, Manuela
    Sarig, Ofer
    Heinz, Lisa
    Plagnol, Vincent
    Fischer, Judith
    Mohamad, Janan
    Malchin, Natalia
    Rajpopat, Shefali
    Kharfi, Monia
    Lestringant, Giles G.
    Sprecher, Eli
    Kelsell, David P.
    Blaydon, Diana C.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (02) : 430 - 436