Peer-Reviewed Publications

Listed below are research papers published in various scientific journals about or relating to PXE. If you are interested in a copy of the research paper, please contact us.
 

2012 • 2011 • 2010 • 2009 • 2008 • 2007 • 2006 • 2005 • 2004 • 2003 • 2002 • 2001 • 2000 • 1999-1992

2013

Arányi T, Bacquet C, de Boussac H, Ratajewski M, Pomozi V, Fülöp K, Brampton CN, Pulaski L, Le Saux O, Váradi A. Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. Front Genet. 2013;4:27. Free article in PubMed. PMID: 23483032

Ronchetti I, Boraldi F, Annovi G, Cianciulli P, Quaglino D. Fibroblast involvement in soft connective tissue calcification. Front Genet. 2013;4:22. Free article in PubMed. PMID: 23467434

Gliem M, Zaeytijd JD, Finger RP, Holz FG, Leroy BP, Charbel Issa P. An update on the ocular phenotype in patients with pseudoxanthoma elasticum. Front Genet. 2013;4:14. PMID: 23577018

Lefthériotis G, Omarjee L, Le Saux O, Henrion D, Abraham P, Prunier F, Willoteaux S, Martin L. The vascular phenotype in pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification. Front Genet. 2013;4:4. Free article in PubMed. PMID: 23408347

Boraldi F, Annovi G, Vermeer C, Schurgers LJ, Trenti T, Tiozzo R, Guerra D, Quaglino D. Matrix Gla protein and alkaline phosphatase are differently modulated in human dermal fibroblasts from PXE patients and controls. J Invest Dermatol. 2013 Apr:133(4):946-54. PMID: 23223140

Besozzi G, Ferrara A, Epifani E, Intini D, Apruzzese M, Provenzano A, Vetrugno M. Acute stroke after intravitreal bevacizumab to treat choroidal neovascularization due to angioid streaks in pseudoxanthoma elasticum: A severe systemic adverse event after an off-label procedure. Int Ophthalmol. 2013 Apr;33(2):181-3. PMID: 23065017

Braun SA, Finis D, Helbig D. Pseudoxanthoma elasticum: More than a skin problem. Hautarzt. 2013 Apr;64(4):222-5. PMID: 23576164

Li Q, Guo H, Chou DW, Harrington DJ, Schurgers LJ, Terry SF, Uitto J. Warfarin accelerates ectopic mineralization in abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum. Am J Pathol. 2013 Apr;182(4):1139-50. PMID: 23415960

Trelohan A, Milea D, Martin L, Leftheriotis G, Ebran JM. Myopia in pseudoxanthoma elasticum. J Fr Ophthalmol. 2013 Mar 16. Pii. S0181-5512(12)00222-7. [Epub ahead of print] PMID: 23510649

Berndt A, Li Q, Potter CS, Liang Y, Silva KA, Kennedy V, Uitto J, Sundberg JP. A single-nucleotide polymorphism in the abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum. J Invest Dermatol. 2013 Mar;133(3):833-6. PMID: 23014343 

Zimmo L, Rudarakanchana N, Thompson M, Hamady MS, Cheshire NJ, Bicknell CD. Renal artery aneurysm formation secondary to pseudoxanthoma elasticum. J Vasc Surg. 2013 Mar;57(3):842-4. PMID: 23218412

Fernandez KH, Liu V, Swick BL. Nonuremic calciphylaxis associated with histologic changes of pseudoxanthoma elasticum. Am J Dermatopathol. 2013 Feb;35(1):106-8. PMID: 22892472

Ko JH, Shih YC, Huang YH, Yang CH. Pseudoxanthoma elasticum. Lancet. 2013 Feb 16;381(9866):565. PMID: 23084479

Iwanaga A, Yozaki M, Yosuke Y, Maemura K, Tsuiki E, Kitaoka T, Tanioka M, Tamura H, Yamamoto Y, Hattori T, Isoagai Z, Ogi T, Yoshiura K, Utani A. Identification of ABCC6 gene mutations in the Japanese patients with pseudoxanthoma elasticum (PXE). J Dermatol Sci. 2013 Feb:69(2):e57-8.

Panettiere P, Marchetti L, Accorsi D. Arms lift in a case of pseudoxanthoma elasticum. Case Rep Dermatol Med. 2013;2013:870605. Free article in PubMed. PMID: 23365766