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Items: 1 to 20 of 105

1.

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.

Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA.

Mol Genet Metab. 2011 May;103(1):44-50. doi: 10.1016/j.ymgme.2011.01.018.

2.

Reply to the article of C. Markello et al. entitled "Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum".

Lefthériotis G, Vanakker O, Le Saux O, Martin L.

Mol Genet Metab. 2011 Jun;103(2):199-200. doi: 10.1016/j.ymgme.2011.03.014. No abstract available.

PMID:
21497121
3.

Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations.

Li Q, Price TP, Sundberg JP, Uitto J.

Cell Cycle. 2014;13(16):2609-15. doi: 10.4161/15384101.2014.943567.

4.

Genetics in arterial calcification: lessons learned from rare diseases.

Nitschke Y, Rutsch F.

Trends Cardiovasc Med. 2012 Aug;22(6):145-9. doi: 10.1016/j.tcm.2012.07.011. Review.

PMID:
23122642
5.

Reply to Professor Lefthériotis et al.

Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA.

Mol Genet Metab. 2011 Jul;103(3):305. doi: 10.1016/j.ymgme.2011.04.008. No abstract available.

PMID:
21592834
6.

Arterial Calcification Due to Deficiency of CD73 (ACDC) As One of Rheumatic Diseases Associated With Periarticular Calcification.

Ichikawa N, Taniguchi A, Kaneko H, Kawamoto M, Sekita C, Nakajima A, Yamanaka H.

J Clin Rheumatol. 2015 Jun;21(4):216-20. doi: 10.1097/RHU.0000000000000245.

PMID:
26010187
7.

NT5E mutations and arterial calcifications.

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M.

N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923.

8.

NT5E mutations and arterial calcifications.

Schrader J.

N Engl J Med. 2011 Apr 21;364(16):1578-9; author reply 1579-80. doi: 10.1056/NEJMc1102515#SA3. No abstract available.

PMID:
21506751
9.

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L.

Am J Med Genet A. 2010 Jan;152A(1):118-23. doi: 10.1002/ajmg.a.33162.

PMID:
20034067
10.

ABCC6 does not transport adenosine - relevance to pathomechanism of pseudoxanthoma elasticum.

Szabó Z, Váradi A, Li Q, Uitto J.

Mol Genet Metab. 2011 Nov;104(3):421; author reply 422. doi: 10.1016/j.ymgme.2011.07.013. No abstract available.

PMID:
21813308
11.

Pyrophosphates as a major inhibitor of matrix calcification in Pseudoxanthoma elasticum.

Dabisch-Ruthe M, Kuzaj P, Götting C, Knabbe C, Hendig D.

J Dermatol Sci. 2014 Aug;75(2):109-20. doi: 10.1016/j.jdermsci.2014.04.015.

PMID:
24907773
12.

Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum.

Kauffenstein G, Pizard A, Le Corre Y, Vessières E, Grimaud L, Toutain B, Labat C, Mauras Y, Gorgels TG, Bergen AA, Le Saux O, Lacolley P, Lefthériotis G, Henrion D, Martin L.

Arterioscler Thromb Vasc Biol. 2014 May;34(5):1045-56. doi: 10.1161/ATVBAHA.113.302943. Erratum in: Arterioscler Thromb Vasc Biol. 2015 Mar;35(3):e16.

13.

NT5E mutations and arterial calcifications.

Hofbauer LC, Hamann C, Schoppet M.

N Engl J Med. 2011 Apr 21;364(16):1578; author reply 1579-80. doi: 10.1056/NEJMc1102515#SA2. No abstract available.

PMID:
21506752
14.

Dysregulation of gene expression in ABCC6 knockdown HepG2 cells.

Miglionico R, Armentano MF, Carmosino M, Salvia AM, Cuviello F, Bisaccia F, Ostuni A.

Cell Mol Biol Lett. 2014 Dec;19(4):517-26. doi: 10.2478/s11658-014-0208-2.

PMID:
25169437
15.

Vitamin K supplementation increases vitamin K tissue levels but fails to counteract ectopic calcification in a mouse model for pseudoxanthoma elasticum.

Gorgels TG, Waarsing JH, Herfs M, Versteeg D, Schoensiegel F, Sato T, Schlingemann RO, Ivandic B, Vermeer C, Schurgers LJ, Bergen AA.

J Mol Med (Berl). 2011 Nov;89(11):1125-35. doi: 10.1007/s00109-011-0782-y.

16.

Ecto-5'-nucleotidase, CD73, is an endothelium-derived hyperpolarizing factor synthase.

Ohta M, Toyama K, Gutterman DD, Campbell WB, Lemaître V, Teraoka R, Miura H.

Arterioscler Thromb Vasc Biol. 2013 Mar;33(3):629-36. doi: 10.1161/ATVBAHA.112.300600.

17.

Mammographic findings in pseudoxanthoma elasticum.

Bercovitch L, Schepps B, Koelliker S, Magro C, Terry S, Lebwohl M.

J Am Acad Dermatol. 2003 Mar;48(3):359-66.

PMID:
12637915
18.

Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls.

Kuzaj P, Kuhn J, Michalek RD, Karoly ED, Faust I, Dabisch-Ruthe M, Knabbe C, Hendig D.

PLoS One. 2014 Sep 29;9(9):e108336. doi: 10.1371/journal.pone.0108336.

19.

Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.

Le Saux O, Bunda S, VanWart CM, Douet V, Got L, Martin L, Hinek A.

J Invest Dermatol. 2006 Jul;126(7):1497-505.

20.

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A.

Am J Med Genet A. 2011 Nov;155A(11):2855-9. doi: 10.1002/ajmg.a.34264.

PMID:
21964806
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