Functional characterization of missense variants in ABCC6, the gene responsible for pseudoxanthoma elasticum

被引：0
|
作者：
Huang, J. [2 ]
Kowal, L. [2 ]
Singh, J. [1 ]
Snook, A. E. [1 ]
Uitto, J. [2 ]
Li, Q. [2 ]
机构：
[1] Thomas Jefferson Univ, Dept Pharmacol & Expt Therapeut, Philadelphia, PA 19107 USA
[2] Thomas Jefferson Univ, Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2021年 / 141卷 / 05期
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：
166
引用
收藏
页码：S29 / S29
页数：1
相关论文
共 50 条
  • [1] Functional characterization of ABCC6 missense variants implicated in pseudoxanthoma elasticum
    Kowal, L.
    Huang, J.
    Jacobs, I.
    Luo, H.
    Uitto, J.
    Li, Q.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2020, 140 (07) : S35 - S35
  • [2] Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder
    Kowal, Luke
    Huang, Jianhe
    Luo, Hongbin
    Singh, Jagmohan
    Snook, Adam E.
    Uitto, Jouni
    Li, Qiaoli
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2022, 142 (04) : 1085 - 1093
  • [3] ABCC6 and pseudoxanthoma elasticum
    Bergen, Arthur A. B.
    Plomp, Astrid S.
    Hu, Xiaofeng
    de Jong, Paulus T. V. M.
    Gorgels, Theo G. M. F.
    PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2007, 453 (05): : 685 - 691
  • [4] ABCC6 and pseudoxanthoma elasticum
    Arthur A. B. Bergen
    Astrid S. Plomp
    Xiaofeng Hu
    Paulus T. V. M. de Jong
    Theo G. M. F. Gorgels
    Pflügers Archiv - European Journal of Physiology, 2007, 453 : 685 - 691
  • [5] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
    Le Saux, O
    Beck, K
    Sachsinger, C
    Silvestri, C
    Treiber, C
    Gring, H
    Johnson, E
    De Paepe, A
    Pasquali-Ronchetti, I
    Bercovitch, L
    Terry, SF
    Boyd, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 613 - 613
  • [6] Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum
    Verschuere, S.
    Coucke, P.
    Vanakker, O. M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1269 - 1270
  • [7] ABCC6 as a Target in Pseudoxanthoma Elasticum
    Varadi, Andras
    Szabo, Zalan
    Pomozi, Viola
    de Boussac, Hugues
    Fueloep, Krisztina
    Aranyi, Tamas
    CURRENT DRUG TARGETS, 2011, 12 (05) : 671 - 682
  • [8] A spectrum of ABCC6 (MRP6) mutations are responsible for Pseudoxanthoma elasticum
    Le Saux, O
    Urban, Z
    Beck, K
    Sachsinger, C
    Sylvestri, C
    de Paepe, A
    Pasquali-Ronchetti, I
    Pope, F
    Terry, S
    Boyd, C
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 117 (02) : 514 - 514
  • [9] Development of comprehensive ABCC6 gene testing for Pseudoxanthoma Elasticum
    Crookes, Laura
    Nesbitt, I. M.
    Pollitt, R.
    JOURNAL OF MEDICAL GENETICS, 2012, 49 : S109 - S109
  • [10] Pseudoxanthoma elasticum: Identification of mutations in the ABCC6 gene.
    Germain, DP
    Perdu, J
    Remones, V
    Jeunemaitre, X
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 12 - 12
12345