Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis

被引:26
作者
Akiyama, M
Takizawa, Y
Suzuki, Y
Ishiko, A
Matsuo, I
Shimizu, H
机构
[1] Teikyo Univ, Sch Med, Ichihara Hosp, Dept Dermatol, Chiba 2990111, Japan
[2] Keio Univ, Sch Med, Dept Dermatol, Tokyo, Japan
[3] Hokkaido Univ, Grad Sch Med, Dept Dermatol, Sapporo, Hokkaido, Japan
关键词
D O I
10.1046/j.0022-202x.2001.01367.x
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:992 / 995
页数:4
相关论文
共 21 条
  • [1] EXPRESSION OF TISSUE TRANSGLUTAMINASE IN SKELETAL TISSUES CORRELATES WITH EVENTS OF TERMINAL DIFFERENTIATION OF CHONDROCYTES
    AESCHLIMANN, D
    WETTERWALD, A
    FLEISCH, H
    PAULSSON, M
    [J]. JOURNAL OF CELL BIOLOGY, 1993, 120 (06) : 1461 - 1470
  • [2] Expression of transglutaminase activity in developing human epidermis
    Akiyama, M
    Smith, LT
    Shimizu, H
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2000, 142 (02) : 223 - 225
  • [3] Periderm cells form cornified cell envelope in their regression process during human epidermal development
    Akiyama, M
    Smith, LT
    Yoneda, K
    Holbrook, KA
    Hohl, D
    Shimizu, H
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (06) : 903 - 909
  • [4] Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma
    Akiyama, M
    Takizawa, Y
    Kokaji, T
    Shimizu, H
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2001, 144 (02) : 401 - 407
  • [5] Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
    Fischer, J
    Faure, A
    Bouadjar, B
    Blanchet-Bardon, C
    Karaduman, A
    Thomas, I
    Emre, S
    Cure, S
    Özgüc, M
    Weissenbach, J
    Prud'homme, JF
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (03) : 904 - 913
  • [6] Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
    Hennies, HC
    Küster, W
    Wiebe, V
    Krebsová, A
    Reis, A
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (05) : 1052 - 1061
  • [7] In vitro and rapid in situ transglutaminase assays for congenital ichthyoses -: A comparative study
    Hohl, D
    Aeschlimann, D
    Huber, M
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (03) : 268 - 271
  • [8] MUTATIONS OF KERATINOCYTE TRANSGLUTAMINASE IN LAMELLAR ICHTHYOSIS
    HUBER, M
    RETTLER, I
    BERNASCONI, K
    FRENK, E
    LAVRIJSEN, SPM
    PONEC, M
    BON, A
    LAUTENSCHLAGER, S
    SCHORDERET, DF
    HOHL, D
    [J]. SCIENCE, 1995, 267 (5197) : 525 - 528
  • [9] KIM IG, 1992, J BIOL CHEM, V267, P7710
  • [10] Calpain inhibitors reduce the cornified cell envelope formation by inhibiting proteolytic processing of transglutaminase 1
    Kim, SY
    Bae, CD
    [J]. EXPERIMENTAL AND MOLECULAR MEDICINE, 1998, 30 (04) : 257 - 262