Mutations in ABCA12, a keratinocyte lipid transporter, in harlequin ichthyosis and a functional recovery by corrective gene transfer

被引:0
|
作者
Akiyama, M
Sugiyama-Nakagiri, Y
Sakai, K
McMillan, JR
Goto, M
Arita, K
Tsuji-Abe, Y
Tabata, N
Matsuoka, K
Sasaki, R
Sawamura, D
Shimizu, H
机构
[1] Hokkaido Univ, Grad Sch Med, Dept Dermatol, Sapporo, Hokkaido, Japan
[2] Hokkaido Univ, Creat Res Initiat Sousei, Sapporo, Hokkaido, Japan
[3] Japanese Red Cross Sendai Hosp, Sendai, Miyagi, Japan
[4] Natl Ctr Child Hlth & Dev, Tokyo, Japan
关键词
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
457
引用
收藏
页码:A77 / A77
页数:1
相关论文
共 50 条
  • [31] Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation
    Singh, Shreya
    Sapkale, Bhagyesh
    Chandi, Dhruba
    Chaudhari, Kamlesh
    JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2025, 19 (02) : SD1 - SD4
  • [32] The abca12 gene is required for normal zebrafish skin development - a model system for harlequin ichthyosis
    Frank, M.
    Li, Q.
    Akiyama, M.
    Shimizu, H.
    Ho, S.
    Uitto, J.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 : S86 - S86
  • [33] Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis
    Takeichi, Takuya
    Sugiura, Kazumitsu
    Matsuda, Kazuyuki
    Kono, Michihiro
    Akiyama, Masashi
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2013, 69 (03) : 259 - 261
  • [34] A novel ABCA12 mutation 3270delT causes harlequin ichthyosis
    Akiyama, M.
    Sakai, K.
    Wolff, G.
    Hausser, I.
    McMillan, J. R.
    Sawamura, D.
    Shimizu, H.
    BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (05) : 1064 - 1066
  • [35] ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids
    Sharma, Amit
    Rozzelle, Arlene
    Jahnke, Marla N.
    Desai, Jagdish
    Shwayder, Tor A.
    Kisseih, Esther
    Bryant, Justin R.
    Agarwal, Prashant
    PEDIATRIC DERMATOLOGY, 2019, 36 (03) : 339 - 341
  • [36] Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis
    Sheth, Jayesh J.
    Bhavsar, Riddhi
    Patel, Dhairya
    Joshi, Aishwarya
    Sheth, Frenny J.
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2018, 57 (04) : 428 - 433
  • [37] Lamellar ichthyosis with a novel mutation in the ABCA12 gene
    Latheef, F.
    Shareef, M.
    Walker, B.
    BRITISH JOURNAL OF DERMATOLOGY, 2014, 171 : 122 - 123
  • [38] Case of harlequin ichthyosis in preterm infant with a compound heterozygous ABCA12 missense mutation
    Miyazaki, Moeka
    Ohkawa, Natsuki
    Miyabayashi, Kazuki
    Shoji, Hiromichi
    Takeichi, Takuya
    Kantake, Masato
    Akiyama, Masashi
    Shimizu, Toshiaki
    JOURNAL OF DERMATOLOGY, 2022, 49 (04): : E137 - E139
  • [39] Keratinocyte lipid transporter ABCA12 is highly expressed in the late stages of human epidermal development
    Yamanaka, Y.
    Akiyama, M.
    Sakai, K.
    Sugiyama-Nakagiri, Y.
    Goto, M.
    Sawamura, D.
    McMillan, J. R.
    Ota, M.
    Shimizu, H.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 : 17 - 17
  • [40] Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis
    Castiglia, D.
    Castori, M.
    Pisaneschi, E.
    Sommi, M.
    Covaciu, C.
    Zambruno, G.
    Fischer, J.
    Magnani, C.
    CLINICAL GENETICS, 2009, 76 (04) : 392 - 397