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
  • [21] A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis
    Ortega-Recalde, O.
    Moreno, M. B.
    Vergara, J. I.
    Fonseca, D. J.
    Rojas, R. F.
    Mosquera, H.
    Medina, C. L.
    Restrepo, C. M.
    Laissue, P.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2015, 40 (07) : 757 - 760
  • [22] Specific TGM1 Mutation Profiles in Bathing Suit and Self-Improving Collodion Ichthyoses Phenotypic and Genotypic Data From 9 Patients With Dynamic Phenotypes of Autosomal Recessive Congenital Ichthyosis
    Bourrat, Emmanuelle
    Blanchet-Bardon, Claudine
    Derbois, Celine
    Cure, Susan
    Fischer, Judith
    ARCHIVES OF DERMATOLOGY, 2012, 148 (10) : 1191 - 1195
  • [23] Diagnosis of Autosomal Recessive Lamellar Ichthyosis with mutations in the TGM1 gene.
    Cserhalmi-Friedman, PB
    Milstone, LM
    Christiano, AM
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 386 - 386
  • [24] Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
    Zambrano, H.
    Montalvan, M.
    Farhi, A.
    Lu, Y.
    Yang, C.
    Cabezas, J.
    Lifton, R.
    Milstone, L.
    Choate, K. A.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 : S71 - S71
  • [25] Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene
    Zaouak, Anissa
    Abdessalem, Ghaith
    Mkaouar, Rahma
    Messaoud, Olfa
    Abdelhak, Sonia
    Hammami, Houda
    Fenniche, Samy
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2019, 58 (07) : E135 - E137
  • [26] Bathing suit ichthyosis: report of a case in a Senegalese patient
    Martin-Alcalde, Javier
    Naz-Villalba, Elena
    Pampin-Franco, Ana
    Lopez-Estebaranz, Jose L.
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2020, 59 (07) : E262 - E263
  • [27] Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
    Zambrano, Hector
    Montalvan, Martha
    Cabezas, Jimmy
    Lu, Yin
    Yang, Catherine S.
    Milstone, Leonard M.
    Choate, Keith
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2014, 53 (04) : E312 - E313
  • [28] Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
    Zambrano, Hector
    Montalvan, Martha
    Farhi, Anita
    Lu, Ying
    Yang, Catherine
    Cabezas, Jimmy
    Lifton, Richard
    Milstone, Leonard
    Choate, Keith
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 : S66 - S66
  • [29] A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion
    Park, Shin Hae
    Shin, Ji Young
    Park, Young Min
    Youn, Young Ah
    Kim, Myungshin
    CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE, 2013, 48 (06): : E144 - E145
  • [30] Bathing suit ichthyosis: Novel mutations and clues to pathogenesis
    Marukian, N.
    Zhou, J.
    Hu, R.
    Theos, A.
    Kaymakcalan, H.
    Bayliss, S.
    Paller, A. S.
    Boyden, L.
    Choate, K.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (05) : S65 - S65