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Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Nitschke Y, et al. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209248 Free PMC article.
Case 1: An infant with heart failure (case presentation).
Ferrero GB, Nitschke Y, Pucci A, Barattia G, Baldassarre G, Rutsch F. Ferrero GB, et al. Among authors: nitschke y. Acta Paediatr. 2009 Jan;98(1):5-6, 199-201. doi: 10.1111/j.1651-2227.2008.01012.x. Acta Paediatr. 2009. PMID: 19086938 No abstract available.
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. Reitter A, et al. Among authors: nitschke y. Fetal Diagn Ther. 2009;25(2):264-8. doi: 10.1159/000223683. Epub 2009 Jun 10. Fetal Diagn Ther. 2009. PMID: 19521093
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. Rutsch F, et al. Among authors: nitschke y. Circ Cardiovasc Genet. 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704. Circ Cardiovasc Genet. 2008. PMID: 20016754 Free PMC article.
Npp1 promotes atherosclerosis in ApoE knockout mice.
Nitschke Y, Weissen-Plenz G, Terkeltaub R, Rutsch F. Nitschke Y, et al. J Cell Mol Med. 2011 Nov;15(11):2273-83. doi: 10.1111/j.1582-4934.2011.01327.x. J Cell Mol Med. 2011. PMID: 21477221 Free PMC article.
37 results