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
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
  • [31] Analysis of keratinocyte involucrin, lipid envelops and TGM1 gene in patients with congenital lamellar ichthyosis
    Zheng, Naigang
    Zhang, Chengyang
    Wu, Jinglan
    Li, Hongwen
    Wang, Yiling
    Zhang, Qinxian
    LIFE SCIENCE JOURNAL-ACTA ZHENGZHOU UNIVERSITY OVERSEAS EDITION, 2009, 6 (01): : 5 - 12
  • [32] Analysis of keratinocyte involucrin, lipid envelops and TGM1 gene in patients with congenital lamellar ichthyosis
    Zheng, Naigang
    Zhang, Chengyang
    Wu, Jinglan
    Li, Hongwen
    Wang, Yiling
    Zhang, Qinxian
    LIFE SCIENCE JOURNAL-ACTA ZHENGZHOU UNIVERSITY OVERSEAS EDITION, 2009, 6 (03): : 5 - 12
  • [33] Ichthyosis patients with TGM1 mutations show aberrant transcriptomic expression
    Zhang, H.
    Vahlquist, A.
    Virtanen, M.
    Torma, H.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (10) : S214 - S214
  • [34] Bathing suit ichthyosis is associated with transglutaminase 1 deficiency
    Oji, V
    Aufenvenne, K
    Ahvazi, B
    Hausser, I
    Küster, W
    Hennies, H
    Traupe, H
    EXPERIMENTAL DERMATOLOGY, 2006, 15 (03) : 197 - 197
  • [35] Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis
    Akiyama, M
    Takizawa, Y
    Suzuki, Y
    Ishiko, A
    Matsuo, I
    Shimizu, H
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 116 (06) : 992 - 995
  • [36] Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis
    Fachal, Laura
    Rodriguez-Pazos, Laura
    Ginarte, Manuel
    Beiras, Andres
    Suarez-Penaranda, Jose M.
    Toribio, Jaime
    Carracedo, Angel
    Vega, Ana
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2012, 51 (04) : 427 - 430
  • [37] Transglutamiase-1 and bathing suit ichthyosis: Molecular analysis of gene/environment interactions
    Aufenvenne, K.
    Oji, V.
    Walker, T.
    Hennies, H.
    Bruckner, P.
    Trouper, H.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2008, 128 : S118 - S118
  • [38] Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis
    Ullah, Rahim
    Ansar, Muhammad
    Durrani, Zaka Ullah
    Lee, Kwanghyuk
    Santos-Cortez, Regie Lyn P.
    Muhammad, Dost
    Ali, Mahboob
    Zia, Muhammad
    Ayub, Muhammad
    Khan, Suliman
    Smith, Josh D.
    Nickerson, Deborah A.
    Shendure, Jay
    Bamshad, Michael
    Leal, Suzanne M.
    Ahmad, Wasim
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2016, 55 (05) : 524 - 530
  • [39] A REPORT OF TWO CASES OF TGM1 MUTATIONS IN IRANIAN PATIENTS WITH LAMELLAR ICHTHYOSIS
    Faraji, Abolfazl
    Mobaraki, Maryam
    Yazdi, AmirReza
    Seyyed Hassani, Seyyed Mohammad
    Aryani, Omid
    Houshmand, Massoud
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2011, 5 (01) : 43 - 46
  • [40] Transglutaminase-1 and Bathing Suit Ichthyosis: Molecular Analysis of Gene/Environment Interactions
    Aufenvenne, Karin
    Oji, Vinzenz
    Walker, Tatjana
    Becker-Pauly, Christoph
    Hennies, Hans Christian
    Stoecker, Walter
    Traupe, Heiko
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (08) : 2068 - 2071