Publications

Selected Publications

1. Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD:: Mutations in a gene encoding an ABC transporter (ABCC6) cause pseudoxanthoma elasticum. Nat Genet 2000; 25:223-226. [ pubmed ]

2. Urban Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A:: Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet 2002; 71:30-44. [ pubmed ]

3. Ruigrok Y, Seitz U, Wolterink S, Wijmenga C, Rinkel G, Urban Z: : Association of polymorphysms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage. Stroke 2004; 35:2064-2068. [ pubmed ]

4. Urban Z, Gao J, Pope FM, Davis EC: : Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol 2005; 124:1193-1199. [ pubmed ]

5. Hu Q, Reymond JL. Pinel N, Zabot MT, Urban Z: : Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. J Invest Dermatol 2006; 126:283-290. [ pubmed ]

6. Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Loke KY, Kirk RC, Urban Z:: Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet 2006; 43:255-258. [ pubmed ]

7. Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z: : Fibulin-4: novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet (in press). [ pubmed ]

Selected Reviews

1. Urban Z, Boyd CD: : Elastic-fiber pathologies: primary defects in assembly – and secondary disorders in transport and delivery. Am J Hum Genet 2000; 67:4-7 [ pubmed ]

2. Milewicz DM, Urban Z, Boyd CD: : Genetic disorders of the elastic fiber system. Matrix Biol 2000; 19:471-480. [ pubmed ]

3. Tassabehji M, Urban Z :: Molecular diagnostics of supravalvular aortic stenosis. In: Kearns-Jonker M (ed) Congenital heart disease: molecular diagnostics. Humana, Totowa, NJ pp 129-156.