Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes

被引:3
|
作者
Zamiri, M. [1 ]
Wilson, N. J. [2 ]
O'Toole, E. A. [3 ]
Smith, F. J. D. [2 ,4 ]
机构
[1] Queen Elizabeth Univ Hosp, Alan Lyell Ctr Dermatol, Glasgow, Lanark, Scotland
[2] Univ Dundee, Sch Life Sci, Dermatol & Genet Med, Div Biol Chem & Drug Discovery, Dundee, Scotland
[3] Queen Mary Univ London, Ctr Cell Biol & Cutaneous Res, Blizard Inst, Barts & London Sch Med & Dent, London, England
[4] Pachyonychia Congenita Project, Holladay, UT USA
基金
英国惠康基金;
关键词
D O I
10.1111/bjd.17839
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:618 / 620
页数:3
相关论文
共 50 条
  • [31] NOVEL MUTATIONS IN KERATIN-16 GENE UNDERLY FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (NEPPK) IN 2 FAMILIES
    SHAMSHER, MK
    NAVSARIA, HA
    STEVENS, HP
    RATNAVEL, RC
    PURKIS, PE
    KELSELL, DP
    MCLEAN, WHI
    COOK, LJ
    GRIFFITHS, WAD
    GSCHMEISSNER, S
    SPURR, N
    LEIGH, IM
    HUMAN MOLECULAR GENETICS, 1995, 4 (10) : 1875 - 1881
  • [32] Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
    Harjama, Liisa
    Kettunen, Kaisa
    Elomaa, Outi
    Einarsdottir, Elisabet
    Heikkila, Hannele
    Kivirikko, Sirpa
    Lappalainen, Katriina
    Saarela, Janna
    Alby, Caroline
    Ranki, Annamari
    Kere, Juha
    Hadj-Rabia, Smail
    Hannula-Jouppi, Katariina
    ACTA DERMATO-VENEREOLOGICA, 2020, 100 (02)
  • [33] Identification of novel and recurrent AAGAB mutations in two patients with punctate palmoplantar keratoderma
    Ishii, N.
    Teye, K.
    Hamada, T.
    Nakama, T.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2018, 138 (05) : S136 - S136
  • [34] A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma
    Cao, L-H
    Luo, Y.
    Wen, W.
    Liu, W-L
    Jiang, L.
    Chen, C.
    Ji, C-Y
    Zhang, X.
    BRITISH JOURNAL OF DERMATOLOGY, 2011, 165 (05) : 1145 - 1147
  • [35] Desmoplakin Mutations with Palmoplantar Keratoderma; Woolly Hair and Cardiomyopathy
    Pigors, Manuela
    Schwieger-Briel, Agnes
    Cosgarea, Rodica
    Diaconeasa, Adriana
    Bruckner-Tuderman, Leena
    Fleck, Thilo
    Has, Cristina
    ACTA DERMATO-VENEREOLOGICA, 2015, 95 (03) : 337 - 340
  • [36] Palmoplantar Keratoderma with Leukokeratosis Anogenitalis Caused by KDSR Mutations
    Huber, Marcel
    Chiticariu, Elena
    Bachmann, Daniel
    Flatz, Lukas
    Hohl, Daniel
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2020, 140 (08) : 1662 - +
  • [37] Mutations in a Keratin 6 Isomer (K6c) Cause a Type of Focal Palmoplantar Keratoderma
    Bowden, Paul E.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 (02) : 336 - 338
  • [38] New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
    Pohler, E.
    Huber, M.
    Boonen, S. E.
    Zamiri, M.
    Gregersen, P. A.
    Sommerlund, M.
    Ramsing, M.
    Hohl, D.
    McLean, W. H. I.
    Smith, F. J. D.
    BRITISH JOURNAL OF DERMATOLOGY, 2014, 171 (02) : 433 - 436
  • [39] IDENTIFICATION OF NOVEL MUTATIONS IN KERATIN-16 GENE IN 2-FAMILIES WITH FOCAL NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (NEPPK)
    LEIGH, M
    SHAMSHER, M
    STEVENS, HP
    RATNAVEL, R
    PURKIS, PE
    GRIFFITHS, WAD
    MCLEAN, WHI
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1995, 104 (04) : 582 - 582
  • [40] Palmoplantar Keratoderma along with Neuromuscular and Metabolic Phenotypes in Slurp1-Deficient Mice
    Adeyo, Oludotun
    Allan, Bernard B.
    Barnes, Richard H., II
    Goulbourne, Chris N.
    Tatar, Angelica
    Tu, Yiping
    Young, Lorraine C.
    Weinstein, Michael M.
    Tontonoz, Peter
    Fong, Loren G.
    Beigneux, Anne P.
    Young, Stephen G.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 (06) : 1589 - 1598