Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis

被引：1
|
作者：
Tani, Naomi [1 ]
Yamada, Nanako [1 ]
Okazaki, Tetsuya [3 ]
Horie, Takashi [2 ]
Nakano, Hajime [4 ]
Sawamura, Daisuke [4 ]
Yamamoto, Osamu [1 ]
机构：
[1] Tottori Univ, Fac Med, Dept Med Sensory & Motor Organs, Div Dermatol, Yonago, Tottori, Japan
[2] Tottori Univ, Lab Electron Microscopy, Yonago, Tottori, Japan
[3] Tottori Univ Hosp, Div Clin Genet, Yonago, Tottori, Japan
[4] Hirosaki Univ, Dept Dermatol, Grad Sch Med, Hirosaki, Aomori, Japan
来源：
ACTA DERMATO-VENEREOLOGICA | 2020年 / 100卷
关键词：
TRANSGLUTAMINASE-1;
D O I：
10.2340/00015555-3643
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
页数：2
相关论文
共 50 条
  • [1] Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child
    Benmously-Mlika, Rym
    Zaouak, Anissa
    Mrad, Ridha
    Laaroussi, Nadia
    Abdelhak, Sonia
    Hovnanian, Alain
    Mokhtar, Insaf
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2014, 53 (12) : 1478 - 1480
  • [2] TGM1 mutations in bathing suit ichthyosis: A functional understanding
    Aufenvenne, K.
    Oji, V.
    Walker, T.
    Hennies, H-C
    Seller, N.
    Bruckner, P.
    Traupe, H.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 : S81 - S81
  • [3] TGM1 mutations in bathing suit ichthyosis: a functional understanding
    Aufenvenne, K.
    Oji, V.
    Walker, T.
    Ahvazi, B.
    Hennies, H.
    Traupe, H.
    EXPERIMENTAL DERMATOLOGY, 2007, 16 (03) : 206 - 206
  • [4] Novel mutation in the transglutaminase 1 gene (TGM1) in a boy with lamellar ichthyosis
    Clayton, T. H.
    Clark, S. M.
    BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (03) : 650 - 650
  • [5] TGM1 mutation spectrum in patients with lamellar ichthyosis
    Ozkinay, F.
    Onay, H.
    Ozturk, G.
    Isik, E.
    Emecen, D. Ayyildiz
    Arslan, E.
    Hazan, F.
    Atik, T.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 919 - 920
  • [6] Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis
    Rasheed, Madiha
    Karim, Noreen
    Shah, Faiez Ahmed
    Naeem, Muhammad
    PEDIATRICS AND NEONATOLOGY, 2018, 59 (06): : 628 - 629
  • [7] Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene
    Louhichi, Nacim
    Hadjsalem, Ikhlass
    Marrakchi, Slaheddine
    Trabelsi, Fatma
    Masmoudi, Abderrahmen
    Turki, Hamida
    Fakhfakh, Faiza
    MOLECULAR BIOLOGY REPORTS, 2013, 40 (03) : 2527 - 2532
  • [8] Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene
    Nacim Louhichi
    Ikhlass Hadjsalem
    Slaheddine Marrakchi
    Fatma Trabelsi
    Abderrahmen Masmoudi
    Hamida Turki
    Faiza Fakhfakh
    Molecular Biology Reports, 2013, 40 : 2527 - 2532
  • [9] Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis
    Hackett, B. C.
    Fitzgerald, D.
    Watson, R. M.
    Hol, F. A.
    Irvine, A. D.
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 162 (02) : 448 - 451
  • [10] A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability
    Weiping Deng
    Ruihong Liu
    Mingwei Chen
    Guoxing Zhu
    Yimimg Wang
    European Journal of Dermatology, 2023, 33 : 426 - 428
12345