Response to editor for ABCC6 does not transport adenosine - Relevance to pathomechanism of pseudoxanthoma elasticum

被引:0
|
作者
Markello, Thomas C. [1 ]
Gahl, William A. [1 ]
机构
[1] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
关键词
D O I
10.1016/j.ymgme.2011.08.028
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:422 / 422
页数:1
相关论文
共 50 条
  • [41] Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum
    Kringen, Marianne K.
    Stormo, Camilla
    Berg, Jens Petter
    Terry, Sharon F.
    Vocke, Christine M.
    Rizvi, Samar
    Hendig, Doris
    Piehler, Armin P.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2015, 3 (03): : 233 - 237
  • [42] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    Xiaofeng Hu
    Astrid Plomp
    Jan Wijnholds
    Jacoline ten Brink
    Simone van Soest
    L Ingeborgh van den Born
    Anita Leys
    Ron Peek
    Paulus T V M de Jong
    Arthur A B Bergen
    European Journal of Human Genetics, 2003, 11 : 215 - 224
  • [43] Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications
    Li, Q.
    Torok, L.
    Kocsis, L.
    Uitto, J.
    BRITISH JOURNAL OF DERMATOLOGY, 2010, 163 (03) : 641 - 643
  • [44] Pseudoxanthoma elasticum: Identification of mutations in the ABCC6 gene, encoding multidrug resistance protein 6
    Hamer, C
    Pope, MF
    Shaw-Smith, C
    Xavier, J
    Macdonald, F
    Germain, DP
    JOURNAL OF MEDICAL GENETICS, 2001, 38 : S57 - S57
  • [45] Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa
    Yoshida, S
    Honda, M
    Yoshida, A
    Nakao, S
    Goto, Y
    Nakamura, T
    Fujisawa, K
    Ishibashi, T
    EYE, 2005, 19 (02) : 215 - 217
  • [46] Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like Phenotypes
    Li, Qiaoli
    Grange, Dorothy K.
    Armstrong, Nicole L.
    Whelan, Alison J.
    Hurley, Maria Y.
    Rishavy, Mark A.
    Hallgren, Kevin W.
    Berkner, Kathleen L.
    Schurgers, Leon J.
    Jiang, Qiujie
    Uitto, Jouni
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (03) : 553 - 563
  • [47] Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum
    Iwanaga, Akira
    Okubo, Yumi
    Yozaki, Mariko
    Koike, Yuta
    Kuwatsuka, Yutaka
    Tomimura, Saori
    Yamamoto, Yosuke
    Tamura, Hiroshi
    Ikeda, Satoshi
    Maemura, Koji
    Tsuiki, Eiko
    Kitaoka, Takashi
    Endo, Yuichiro
    Mishima, Hiroyuki
    Yoshiura, Koh-Ichiro
    Ogi, Tomoo
    Tanizaki, Hideaki
    Wataya-Kaneda, Mari
    Hattori, Tomoyasu
    Utani, Atsushi
    JOURNAL OF DERMATOLOGY, 2017, 44 (06): : 644 - 650
  • [48] ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum
    Bertamino, Marta
    Severino, Mariasavina
    Grossi, Alice
    Rusmini, Marta
    Tortora, Domenico
    Gandolfo, Carlo
    Pederzoli, Silvia
    Malattia, Clara
    Picco, Paolo
    Striano, Pasquale
    Ceccherini, Isabella
    Di Rocco, Maja
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2018, 22 (04) : 725 - 728
  • [49] ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    Hu, XF
    Plomp, A
    Wijnholds, J
    ten Brink, J
    van Soest, S
    van den Born, LI
    Leys, A
    Peek, R
    de Jong, PTVM
    Bergen, AAB
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (03) : 215 - 224
  • [50] Disseminated Arterial Calcification and Enhanced Myogenic Response Are Associated With Abcc6 Deficiency in a Mouse Model of Pseudoxanthoma Elasticum
    Kauffenstein, Gilles
    Pizard, A.
    Le Corre, Y.
    Vessieres, E.
    Grimaud, L.
    Toutain, B.
    Labat, C.
    Mauras, Y.
    Gorgels, T. G.
    Bergen, A. A.
    Le Saux, O.
    Lacolley, P.
    Leftheriotis, G.
    Henrion, D.
    Martin, L.
    ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2014, 34 (05) : 1045 - 1056