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
来源：
MOLECULAR GENETICS AND METABOLISM | 2011年 / 104卷 / 03期
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
  • [31] Role of coding polymorphisms in the ABCC6 gene for cardiovascular symptoms in pseudoxanthoma elasticum
    Pramick, M
    Fuchsel, L
    Uitto, J
    Ringpfeil, F
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (04) : A81 - A81
  • [32] ABCC6 mutations in pseudoxanthoma elasticum:: an update including eight novel ones
    Plomp, Astrid S.
    Florijn, Ralph J.
    ten Brink, Jacoline
    Castle, Bruce
    Kingston, Helen
    Martin-Santiago, Ana
    Gorgels, Theo G. M. F.
    de Jong, Paulus T. V. M.
    Bergen, Arthur A. B.
    MOLECULAR VISION, 2008, 14 (15): : 118 - 124
  • [33] Molecular analysis of Pseudoxanthoma Elasticum: spectrum of ABCC6 gene mutations in the Netherlands
    Hu, X
    Plomp, A
    ten Brink, JB
    Wijnholds, J
    Schuurman, EJ
    van Soest, S
    Oud, M
    Peek, R
    Jong, PTVM
    Bergen, AAB
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U569 - U569
  • [34] ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy
    Moitra, Karobi
    Garcia, Sonia
    Jaldin, Michelle
    Etoundi, Clementine
    Cooper, Donna
    Roland, Anna
    Dixon, Patrice
    Reyes, Sandra
    Turan, Sevilay
    Terry, Sharon
    Dean, Michael
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2017, 18 (07)
  • [35] Pseudoxanthoma elasticum:: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene
    Germain, DP
    JOURNAL OF MEDICAL GENETICS, 2001, 38 (07) : 457 - 460
  • [36] The pathomechanistic role of ABCC6 in pseudoxanthoma elasticum-The vitamin K connection
    Jiang, Q.
    Fuelop, K.
    Pomozi, V.
    Grand-Pierre, A.
    Siu, S.
    de Boussac, H.
    Koebloes, G.
    Szabo, P.
    Aranyi, T.
    Vardi, A.
    Uitto, J.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 : S117 - S117
  • [37] Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum
    Sehgal, Anahita
    Milman, Tatyana
    Li, Qiaoli
    Pulido, Jose S.
    TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, 2024, 13 (04):
  • [38] Clinical Phenotypes and ABCC6 Gene Mutations in Brazilian Families with Pseudoxanthoma Elasticum
    Faria, Caroline Silverio
    Li, Qiaoli
    Guo, Haitao
    Uitto, Jouni
    Takeno, Sylvia Satomi
    Cardoso Smith, Marilia de Arruda
    Freire-Maia, Dertia Villalba
    ACTA DERMATO-VENEREOLOGICA, 2013, 93 (06) : 739 - 740
  • [39] Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene
    Mishra, Amit V.
    Martens, Rosanna
    MacDonald, Ian M.
    OPHTHALMIC GENETICS, 2024, 45 (01) : 108 - 111
  • [40] Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant
    Issa, Peter Charbel
    Tysoe, Carolyn
    Caswell, Richard
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2020, 218 : 255 - 260
12345