Selected publications
(from a total of 63)
Urban Z, Davis EC. (2014) Cutis laxa: Intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. Matrix Biol 33:16-22.
Su CT, Huang JW, Chiang CK, Lawrence EC, Levine KL, Dabovic B, Jung C, Davis EC, Madan-Khetarpal S, Urban Z. (2015) Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability. Hum Mol Genet 24:4024-4036.
Misra A, Sheikh AQ, Kumar A, Luo J, Zhang J, Hinton RB, Smoot L, Kaplan P, Urban Z, Qyang Y, Tellides G, Greif DM. (2016) Integrin beta3 inhibition as a therapeutic strategy for supravalvular aortic stenosis. J Exp Med 213:451-453.
Minster RL, Hawley NL, Su CT, Sun G, Kershaw EE, Cheng H, Buhule OD, Lin J, Reupena MS, Viali S, Tuitele J, Naseri T, Urban Z, Deka R, Weeks DE, McGarvey ST. (2016) A thrifty variant in CREBRF strongly influences body mass index in Samoans. Nat Genet 48:1049-1054.
Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB. (2017) Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. Eur J Med Genet 60:110-113.
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E. (2018) Biallelic mutations in the mitochondrial ribosomal protein MRPS2 cause sensorineural hearing loss, hypoglycemia and multiple OXPHOS complex deficiencies. Am J Hum Genet 102:685-695.