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
  • [21] Sustainable TGM1 gene delivery in human lamellar ichthyosis patient skin in vivo
    Lin, Q
    Deng, H
    Fan, H
    Khavari, P
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (04) : 638 - 638
  • [22] 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
  • [23] 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
  • [24] Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report
    Zeng, Jing
    Shan, Baihui
    Guo, Lu
    Lv, Sha
    Li, Fuqiu
    PHARMACOGENOMICS & PERSONALIZED MEDICINE, 2022, 15 : 583 - 588
  • [25] Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein
    Nasser, Khalidah Khalid
    Banaganapalli, Babajan
    Shinawi, Thoraia
    Elango, Ramu
    Shaik, Noor Ahmad
    JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS, 2021, 39 (14): : 4962 - 4972
  • [26] 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
  • [27] 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
  • [28] Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1
    Esposito, G.
    De Falco, F.
    Brazzelli, V.
    Montanari, L.
    Larizza, D.
    Salvatore, F.
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2009, 55 (02) : 128 - 130
  • [29] 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
  • [30] 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
12345