Identification of a novel causative gene responsible for autosomal recessive congenital ichthyosis

被引:0
|
作者
Shigehara, Y. [1 ]
Okuda, S. [2 ]
Hayashi, R. [1 ]
Nakai, H. [3 ]
Abe, R. [4 ]
Kibbi, A. Ghani [5 ]
Kurban, M. [5 ]
Shimomura, Y. [1 ]
机构
[1] Niigata Univ, Grad Sch Med & Dent Sci, Dermatol, Niigata, Japan
[2] Niigata Univ, Grad Sch Med & Dent Sci, Bioinformat, Niigata, Japan
[3] Niigata Univ, Grad Sch Med & Dent Sci, Fac Agr, Niigata, Japan
[4] Niigata Univ, Grad Sch Med & Dent Sci, Dept Dermatol, Niigata, Japan
[5] Amer Univ Beirut, Med Ctr, Dermatol, Beirut, Beyrouth, Lebanon
关键词
D O I
10.1016/j.jid.2017.02.513
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
493
引用
收藏
页码:S85 / S85
页数:1
相关论文
共 50 条
  • [21] Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand
    Supsrisunjai, Chavalit
    Bunnag, Thareena
    Chaowalit, Prapaipit
    Boonpuen, Niorn
    Kootiratrakarn, Tanawatt
    Wessagowit, Vesarat
    PEDIATRIC DERMATOLOGY, 2023, 40 (01) : 107 - 112
  • [22] Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis
    Karim, Noreen
    Durbin-Johnson, Blythe
    Rocke, David M.
    Salemi, Michelle
    Phinney, Brett S.
    Naeem, Muhammad
    Rice, Robert H.
    JOURNAL OF PROTEOMICS, 2019, 201 : 104 - 109
  • [23] Towards the new chromosome locus in Autosomal Recessive Congenital Ichthyosis
    Laiho, E
    Niemi, KM
    Ignatius, J
    Saarialho-Kere, U
    Kere, J
    Palotic, A
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1999, 112 (04) : 638 - 638
  • [24] Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis
    Tang, Haiyan
    Shi, Xiaoliu
    Zhang, Guiying
    CLINICAL CASE REPORTS, 2021, 9 (12):
  • [25] Novel Mutations in the PNPLA1 Gene Associated with Autosomal Recessive Congenital Ichthyosis (ARCI) in Three Unrelated Patients
    Demmer, P.
    Schlipf, N.
    Has, C.
    Stieler, K.
    Blume-Peytavi, U.
    Hartmann, B.
    Fischer, J.
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2014, 12 : 21 - 21
  • [26] Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan
    Kurosawa, Michiko
    Uehara, Ritei
    Takagi, Atsushi
    Aoyama, Yumi
    Iwatsuki, Keiji
    Amagai, Masayuki
    Nagai, Masaki
    Nakamura, Yosikazu
    Inaba, Yutaka
    Yokoyama, Kazuhito
    Ikeda, Shigaku
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2019, 81 (05) : 1086 - +
  • [27] Phenotype diversity in autosomal recessive congenital ichthyosis associated with mutations in the ST14 gene
    Below, J.
    Kuesel, J.
    Hotz, A.
    Fischer, J.
    Frank, J.
    EXPERIMENTAL DERMATOLOGY, 2017, 26 (03) : E46 - E47
  • [28] Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
    Diociaiuti, A.
    Pisaneschi, E.
    Zambruno, G.
    Angioni, A.
    Novelli, A.
    Boldrini, R.
    El Hachem, M.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2018, 32 (03) : E110 - E112
  • [29] Novel Compound Heterozygous Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis
    Kirchmeier, P.
    Oji, V.
    Schlipf, N.
    Hodler, C.
    Zeschnigk, C.
    Fischer, J.
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2014, 12 : 21 - 22
  • [30] Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population
    Israeli, S.
    Goldberg, I.
    Fuchs-Telem, D.
    Bergman, R.
    Indelman, M.
    Bitterman-Deutsch, O.
    Harel, A.
    Mashiach, Y.
    Sarig, O.
    Sprecher, E.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2013, 38 (08) : 911 - 916