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. 2013 Mar;133(3):833-836.
doi: 10.1038/jid.2012.340. Epub 2012 Sep 27.

A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum

Annerose Berndt  1 , Qiaoli Li  2 , Christopher S Potter  3 , Yanhua Liang  3 , Kathleen A Silva  3 , Victoria Kennedy  3 , Jouni Uitto  2 , John P Sundberg  4
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A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum

Annerose Berndt et al. J Invest Dermatol. 2013 Mar.
No abstract available

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Figures

Figure 1
Figure 1. Vibrissae mineralization and fibro-osseous bone lesions
Sections of vibrissae from a 375 day old female C3H/HeJ mouse have no mineralization of the connective tissue wall (a-f) while those from a KK/HlJ mouse are mineralized (i-n). This was confirmed by von Kossa (c, d, k, l) and alizarin red (e, f, m, n) stains. Normal cortical bone and bone marrow from a female C3H/HeJ mouse (g, h) is very different from that of a 555 day old female KK/HlJ mouse (o, p) with fibro-osseous lesions. Note the thin cortex and effacement of the bone marrow by fibrovascular stroma in the KK/HlJ mouse (aldehyd fuschin stain).
See this image and copyright information in PMC

References

    1. Aherrahrou Z, Doehring LC, Ehlers EM, et al. An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/He mice. J Biol Chem. 2008;283:7608–15. - PubMed
    1. Gorgels TG, Hu X, Scheffer GL, et al. Disruption of Abcc6 in the mouse: Novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet. 2005;14:1763–73. - PubMed
    1. Hendig D, Arndt M, Szliska C, et al. SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum. Clin Chem. 2007;53:829–36. - PubMed
    1. 4Hough TA, Bogani D, Cheeseman MT, et al. Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. Proc Natl Acad Sci U S A. 2004;101:13566–71. - PMC - PubMed
    1. Kavukcuoglu NB, Li Q, Pleshko N, et al. Connective tissue mineralization in Abcc6−/− mice, a model for pseudoxanthoma elasticum. Matrix Biol. 2012;31:246–52. - PMC - PubMed

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