Associate Professor, Human Genetics
3130 Public Health
Primary Phone: 967-193-3714
Web site: http://cutislaxa.pitt.edu
Dr. Urban is a molecular geneticist interested in genetic diseases of the extracellular matrix, particularly the elastic fiber system. Human genetic diseases under study include supravalvular aortic stenosis, Williams syndrome, cutis laxa and arterial tortuosity syndrome. Cellular and zebrafish models are used to identify key molecules and processes of elastic fiber formation and maintenance and to establish connections between the extracellular matrix, growth factor signaling and metabolism. The insights from Mendelian diseases and models are applied to understand common, complex diseases such as chronic obstructive pulmonary disease and aneurysms. A new research direction in the laboratory is the transcriptional control of energy use and storage related to obesity, organismal growth and starvation resistance.
Inherited diseases of elastic fibers, obesity, human genetics, cellular and zebrafish models
1992 | University of Szeged, Szeged, Hungary | MS in Molecular Biology and Biotechnology
1997 | Semmelweis University, Budapest, Hungary | PhD in Biology
2001 | University of Hawaii, Honolulu, HI | Postdoctoral training in Molecular Genetics
HUGEN 2040 Molecular Basis of Human Inherited Disease
HUGEN 2051 Inborn Errors of Development
(from a total of 64)
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.
O’Brien ME, Chandra D, Wilson RC, Karoleski CM, Fuhrman CR, Leader JK, Pu J, Zhang Y, Morris A, Nouraie S, Bon J, Urban Z, Sciurba FC. (2019) Loss of skin elasticity is associated with pulmonary emphysema, biomarkers of inflammation, and matrix metalloproteinase activity in smokers. Respir Res 20:128