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
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
  • [41] Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
    U. S. Esperón-Moldes
    J. Pardo-Seco
    M. Montalván-Suárez
    L. Fachal
    M. Ginarte
    L. Rodríguez-Pazos
    A. Gómez-Carballa
    F. Moscoso
    N. Ugalde-Noritz
    A. Ordóñez-Ugalde
    D. Tettamanti-Miranda
    J. C. Ruiz
    A. Salas
    A. Vega
    Scientific Reports, 9
  • [42] Homozygous novel deletion mutation 1349delA in TGM1 leads to a classic phenotype of lamellar icthyosis (LI)
    Takizawa, Y
    Akiyama, M
    Suzuki, Y
    Shimizu, H
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 117 (02) : 518 - 518
  • [43] Congenital ichthyosis:: mutation distribution between the genes TGM1, ALOX12B, ALOXE3 and ichthyin
    Eckl, KM
    Nätebus, M
    Kurtenbach, J
    Traupe, H
    Küster, W
    Hennies, HC
    EXPERIMENTAL DERMATOLOGY, 2006, 15 (03) : 198 - 198
  • [44] Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
    Yuriy O. Shevchenko
    John G. Compton
    Jorge R. Toro
    John J. DiGiovanna
    Sherri J. Bale
    Human Genetics, 2000, 106 : 492 - 499
  • [45] Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
    Shevchenko, YO
    Compton, JG
    Toro, JR
    DiGiovanna, JJ
    Bale, SJ
    HUMAN GENETICS, 2000, 106 (05) : 492 - 499
  • [46] 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
  • [47] Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?
    Zhang, Hanqian
    Ericsson, Maja
    Westrom, Simone
    Vahiquist, Anders
    Virtanen, Marie
    Torma, Hans
    EXPERIMENTAL DERMATOLOGY, 2019, 28 (10) : 1164 - 1171
  • [48] Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients
    Vahlquist, Anders
    Bygum, Anette
    Ganemo, Agneta
    Virtanen, Marie
    Hellstrom-Pigg, Maritta
    Strauss, Gitte
    Brandrup, Flemming
    Fischer, Judith
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 (02) : 438 - 443
  • [49] High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect
    Gonzalez-Del Carmen, Manuel
    Montano, Sarita
    Reyes-Hernandez, Octavio D.
    Vizcaino-Dorado, Pablo A.
    Leyva-Garcia, Norberto
    Morales-Morfin, Juan C.
    Diaz-Beltran, Wendy
    Quinto-Santiago, Edna
    Carino-Calvo, Lizbeth
    Magana, Jonathan J.
    Leyva-Gomez, Gerardo
    Cortes, Hernan
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2020, 59 (08) : 969 - 977
  • [50] Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis
    Mitra Chegini
    Maryam Eslami
    Mahsa Motavaf
    Omid Memarsadeghi
    Azadeh Hoseini
    Elnaz Torab
    Fatemeh Hoseininasab
    Hosna Amiri
    Somayeh Ramandi
    Niusha Mostofinezhad
    Fatane Keivani
    Saeed Reza Ghaffari
    Maryam Rafati
    Archives of Dermatological Research, 316