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Items: 1 to 20 of 171

1.

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Höhne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nürnberg P.

Nat Genet. 2003 Aug;34(4):379-81.

PMID:
12881724
2.

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

Ruf N, Uhlenberg B, Terkeltaub R, Nürnberg P, Rutsch F.

Hum Mutat. 2005 Jan;25(1):98. Erratum in: Hum Mutat. 2005 Nov;26(5):495-6.

PMID:
15605415
3.

Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification.

Numakura C, Yamada M, Ariyasu D, Maesaka A, Kobayashi H, Nishimura G, Ikeda M, Hasegawa Y.

J Bone Miner Metab. 2006;24(1):48-52.

PMID:
16369898
4.

Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure.

Eller P, Hochegger K, Feuchtner GM, Zitt E, Tancevski I, Ritsch A, Kronenberg F, Rosenkranz AR, Patsch JR, Mayer G.

Nephrol Dial Transplant. 2008 Jan;23(1):321-7. Epub 2007 Sep 10.

PMID:
17848394
5.

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM.

Am J Hum Genet. 2010 Feb 12;86(2):267-72. doi: 10.1016/j.ajhg.2010.01.006. Epub 2010 Feb 4.

6.

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
7.

Novel inhibitors of alkaline phosphatase suppress vascular smooth muscle cell calcification.

Narisawa S, Harmey D, Yadav MC, O'Neill WC, Hoylaerts MF, Millán JL.

J Bone Miner Res. 2007 Nov;22(11):1700-10.

8.

Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population.

Lee JE, Choi YK, Seo HA, Jeon JH, Jeong JY, Moon SS, Kim JG, Kim BW, Kim SW, Min Yoo, Kim JY, Lee IK.

Diabetes Res Clin Pract. 2010 Apr;88(1):87-96. doi: 10.1016/j.diabres.2010.01.002. Epub 2010 Jan 25.

PMID:
20092902
9.

Npp1 promotes atherosclerosis in ApoE knockout mice.

Nitschke Y, Weissen-Plenz G, Terkeltaub R, Rutsch F.

J Cell Mol Med. 2011 Nov;15(11):2273-83. doi: 10.1111/j.1582-4934.2011.01327.x.

10.

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F.

Am J Med Genet A. 2005 Jul 15;136(2):210-3.

PMID:
15940697
11.

Arterial calcification is driven by RAGE in Enpp1-/- mice.

Cecil DL, Terkeltaub RA.

J Vasc Res. 2011;48(3):227-35. doi: 10.1159/000318805. Epub 2010 Nov 23.

12.

Chondrogenesis mediated by PPi depletion promotes spontaneous aortic calcification in NPP1-/- mice.

Johnson K, Polewski M, van Etten D, Terkeltaub R.

Arterioscler Thromb Vasc Biol. 2005 Apr;25(4):686-91. Epub 2004 Dec 29.

13.

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
14.

New variants in the Enpp1 and Ptpn6 genes cause low BMD, crystal-related arthropathy, and vascular calcification.

Babij P, Roudier M, Graves T, Han CY, Chhoa M, Li CM, Juan T, Morony S, Grisanti M, Li X, Yu L, Dwyer D, Lloyd DJ, Bass MB, Richards WG, Ebeling C, Amato J, Carlson G.

J Bone Miner Res. 2009 Sep;24(9):1552-64. doi: 10.1359/jbmr.090417.

15.

Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

Dlamini N, Splitt M, Durkan A, Siddiqui A, Padayachee S, Hobbins S, Rutsch F, Wraige E.

Am J Med Genet A. 2009 Mar;149A(3):456-60. doi: 10.1002/ajmg.a.32646.

PMID:
19206175
16.

Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE).

Apschner A, Huitema LF, Ponsioen B, Peterson-Maduro J, Schulte-Merker S.

Dis Model Mech. 2014 Jul;7(7):811-22. doi: 10.1242/dmm.015693. Epub 2014 Jun 6.

17.

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

Rutsch F, Böyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nürnberg P, Terkeltaub R; GACI Study Group.

Circ Cardiovasc Genet. 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704.

18.

Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1.

Reitter A, Fischer D, Buxmann H, Nitschke Y, Rutsch F, Mottok A, Hansmann ML, Harms E, Louwen F, Schlosser R.

Fetal Diagn Ther. 2009;25(2):264-8. doi: 10.1159/000223683. Epub 2009 Jun 10.

PMID:
19521093
19.

[Molecular biology as a diagnostic tool in the newborn Emergency department: a rare case of idiopathic infantile arterial calcification].

Borromini A, Rossi G, Maggi P, Speciale D, Mirri G, Cogliardi A, Addis C, Dainese E, Bonoldi E, Marando A.

G Ital Cardiol (Rome). 2016 Mar;17(3):234-6. doi: 10.1714/2190.23670. Italian.

PMID:
27029882
20.

Inorganic pyrophosphatase induces type I collagen in osteoblasts.

Polewski MD, Johnson KA, Foster M, Millán JL, Terkeltaub R.

Bone. 2010 Jan;46(1):81-90. doi: 10.1016/j.bone.2009.08.055. Epub 2009 Sep 3.

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