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Results: 1 to 20 of 169

Similar articles for PubMed (Select 12881724)

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.

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
3.

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
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.

5.

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
6.

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
7.

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.

8.

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.

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.

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.

PMID:
17638573
11.

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
12.

Idiopathic infantile arterial calcification: case report.

Palmas G, Tumbarello R, Abbruzzese P, Fanos V.

Minerva Pediatr. 2008 Aug;60(4):457-60.

PMID:
18511897
13.

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.

14.

Generalized arterial calcification of infancy: two siblings with prolonged survival.

Ciana G, Trappan A, Bembi B, Benettoni A, Maso G, Zennaro F, Ruf N, Schnabel D, Rutsch F.

Eur J Pediatr. 2006 Apr;165(4):258-63. Epub 2005 Nov 29.

PMID:
16315058
15.

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.

16.

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
17.

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.

18.

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.

19.

Cole Disease Results from Mutations in ENPP1.

Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E.

Am J Hum Genet. 2013 Oct 3;93(4):752-7. doi: 10.1016/j.ajhg.2013.08.007. Epub 2013 Sep 26.

20.

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R.

Am J Hum Genet. 2010 Feb 12;86(2):273-8. doi: 10.1016/j.ajhg.2010.01.010. Epub 2010 Feb 4.

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