TGM1 mutation spectrum in patients with lamellar ichthyosis

被引：0
|
作者：
Ozkinay, F. [1 ]
Onay, H. [1 ]
Ozturk, G. [1 ]
Isik, E. [1 ]
Emecen, D. Ayyildiz [1 ]
Arslan, E. [1 ]
Hazan, F. [2 ]
Atik, T. [1 ]
机构：
[1] Ege Univ, Fac Med, Izmir, Turkey
[2] SBU DR BEHCET UZ CHILDRENS EDUC & RES HOSP, Izmir, Turkey
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P11.060
引用
收藏
页码：919 / 920
页数：2
相关论文
共 50 条
  • [31] 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
  • [32] 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
  • [33] Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe
    Sugiura, Kazumitsu
    Suga, Yasushi
    Akiyama, Masashi
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2013, 72 (02) : 197 - 199
  • [34] Collodion Baby with TGM1 gene mutation
    Sharma, Deepak
    Gupta, Basudev
    Shastri, Sweta
    Pandita, Aakash
    Pawar, Smita
    INTERNATIONAL MEDICAL CASE REPORTS JOURNAL, 2015, 8 : 205 - 208
  • [35] 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
  • [36] Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina
    Dardano, Sabrina
    Gandolfi, Barbara
    Parma, Pietro
    Polli, Michele
    Bighignoli, Barbara
    Strillacci, Maria G.
    Cozzi, Maria C.
    Molteni, Luciano
    Longeri, Maria
    JOURNAL OF HEREDITY, 2008, 99 (01) : 81 - 83
  • [37] Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal
    Esposito, G.
    De Falco, F.
    Neri, I.
    Graziano, C.
    Toschi, B.
    Auricchio, L.
    Gouveia, C.
    Sousa, A. B.
    Salvatore, F.
    BRITISH JOURNAL OF DERMATOLOGY, 2013, 168 (06) : 1364 - 1367
  • [38] 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
  • [39] Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis
    Numata, Sanae
    Teye, Kwesi
    Karashima, Tadashi
    Matsuda, Mitsuhiro
    Hamada, Takahiro
    Hashimoto, Takashi
    EXPERIMENTAL DERMATOLOGY, 2016, 25 (08) : 657 - 659
  • [40] Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G >A mutation in an isolated Ecuadorian population
    Esperon-Moldes, U. S.
    Pardo-Seco, J.
    Montalvan-Suarez, M.
    Fachal, L.
    Ginarte, M.
    Rodriguez-Pazos, L.
    Gomez-Carballa, A.
    Moscoso, F.
    Ugalde-Noritz, N.
    Ordonez-Ugalde, A.
    Tettamanti-Miranda, D.
    Ruiz, J. C.
    Salas, A.
    Vega, A.
    SCIENTIFIC REPORTS, 2019, 9 (1)
12345