Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

被引：1
|
作者：
Uitto, J. [1 ]
Youssefian, L. [1 ]
Vahidnezhad, H. [1 ,2 ]
机构：
[1] Thomas Jefferson Univ, Dept Dermatol & Cutaneous Biol, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA
[2] Pasteur Inst Iran, Dept Mol Med, Biotechnol Res Ctr, Tehran, Iran
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2017年 / 177卷 / 02期
关键词：
PNPLA1; MICE;
D O I：
10.1111/bjd.15689
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：342 / 343
页数：3
相关论文
共 50 条
  • [1] Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation
    Boyden, L. M.
    Craiglow, B. G.
    Hu, R. H.
    Zhou, J.
    Browning, J.
    Eichenfield, L.
    Lim, Y. L.
    Luu, M.
    Randolph, L. M.
    Ginarte, M.
    Fachal, L.
    Rodriguez-Pazos, L.
    Vega, A.
    Kramer, D.
    Yosipovitch, G.
    Vahidnezhad, H.
    Youssefian, L.
    Uitto, J.
    Lifton, R. P.
    Paller, A. S.
    Milstone, L. M.
    Choate, K. A.
    BRITISH JOURNAL OF DERMATOLOGY, 2017, 177 (01) : 319 - 322
  • [2] Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families
    Youssefian, Leila
    Vahidnezhad, Hassan
    Saeidian, Amir Hossein
    Touati, Andrew
    Sotoudeh, Soheila
    Mahmoudi, Hamidreza
    Mansouri, Parvin
    Daneshpazhooh, Maryam
    Aghazadeh, Nessa
    Hesari, Kambiz Kamyab
    Basiri, Mohammadreza
    Londin, Eric
    Kumar, Gaurav
    Zeinali, Sirous
    Fortina, Paolo
    Uitto, Jouni
    HUMAN MUTATION, 2019, 40 (03) : 288 - 298
  • [3] Phenotypic spectrum of 146 cases of autosomal recessive congenital ichthyosis in England
    Simpson, J.
    Martinez-Queipo, M.
    Onoufriadis, A.
    Tso, S.
    Glass, E.
    Liu, L.
    Higashino, T.
    Scott, W.
    Tierney, C.
    Simpson, M.
    Youssefian, L.
    Saedian, A.
    Vahnidnezhad, H.
    Bisquera, A.
    Mellerio, J.
    Martinez, A.
    Moss, C.
    O'Toole, E.
    Burrows, N.
    Ravenscroft, J.
    Leech, S.
    Jones, E.
    Lim, D.
    Ilchyshyn, A.
    Goldstraw, N.
    Cork, M.
    Darne, S.
    Uitto, J.
    McGrath, J.
    BRITISH JOURNAL OF DERMATOLOGY, 2018, 179 : 80 - 81
  • [4] Autosomal Recessive Congenital Ichthyosis
    Rodriguez-Pazos, L.
    Ginarte, M.
    Vega, A.
    Toribio, J.
    ACTAS DERMO-SIFILIOGRAFICAS, 2013, 104 (04): : 270 - 284
  • [5] Autosomal Recessive Congenital Ichthyosis
    Fischer, Judith
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (06) : 1319 - 1321
  • [6] Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis
    Eckl, KM
    Krieg, P
    Küster, W
    Traupe, H
    André, F
    Wittstruck, N
    Fürstenberger, G
    Hennies, HC
    HUMAN MUTATION, 2005, 26 (04) : 351 - 361
  • [7] Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis
    Mohamad, Janan
    Nanda, Arti
    Pavlovsky, Mor
    Peled, Alon
    Malchin, Natalia
    Malovitski, Kiril
    Pramanik, Rashida
    Weissglas-Volkov, Daphna
    Shomron, Noam
    McGrath, John
    Sprecher, Eli
    Sarig, Ofer
    EXPERIMENTAL DERMATOLOGY, 2020, 29 (08) : 742 - 748
  • [8] Nail involvement in autosomal recessive congenital ichthyosis
    Zaouak, Anissa
    Chamli, Amal
    Ben Mansour, Nadia
    Jouini, Wafa
    Fenniche, Samy
    Hammami, Houda
    CLINICS IN DERMATOLOGY, 2022, 40 (04) : 388 - 394
  • [9] Skin histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation
    Yang, C.
    Pomerantz, H.
    Corwin, J.
    Weinstock, M. A.
    Fleckman, P.
    DiGiovanna, J. J.
    Robinson-Bostom, L.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 : S34 - S34
  • [10] Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis
    Maier, D.
    Mazereeuw-Hautier, J.
    Tilinca, M.
    Cosgarea, R.
    Jonca, N.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2016, 41 (03) : 279 - 282
12345