Zsolt Urban

Contributions to Public Health

• We study the genetic causes of rare, inherited connective tissue and cardiopulmonary disorders to discover new disease genes and genetic syndromes. Diseases of interest include cutis laxa, supravalvular aortic stenosis, Williams-Beuren syndrome and arterial tortuosity syndrome. Our studies help with the diagnosis, management and counseling of affected individuals and families.
  • Urban Z, Hucthagowder V, Schürmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet. 2009 Nov;85(5):593-605.
  • For more examples of this research, please see my bibliography.
• We use human cells, tissues, zebrafish and mouse models to understand the molecular cellular and developmental mechanisms that connect DNA variants to disease phenotypes. Our long-term goal is to develop targeted treatments for diseases of interest.
  • Willaert A, Khatri S, Callewaert BL, Coucke PJ, Crosby SD, Lee JG, Davis EC, Shiva S, Tsang M, De Paepe A, Urban Z. GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling. Hum Mol Genet. 2012 Mar 15;21(6):1248-59.
  • Su CT, Huang JW, Chiang CK, Lawrence EC, Levine KL, Dabovic B, Jung C, Davis EC, Madan-Khetarpal S, Urban Z. Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability. Hum Mol Genet. 2015 Jul 15;24(14):4024-36.
• We develop and maintain freely available resources to educate professional lay community members about the rare diseases in our research portfolio.
  • Loeys B, De Paepe A, Urban Z. EFEMP2-Related Cutis Laxa.
  • Callewaert BL, Urban Z. ELN-Related Cutis Laxa.
• We collaborate with investigators to apply the resources and expertise developed in our laboratory to diverse projects on obesity, renal, cardiovascular, pulmonary and infectious diseases.
  • 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. A thrifty variant in CREBRF strongly influences body mass index in Samoans. Nat Genet. 2016 Sep;48(9):1049-1054.
  • Dave JM, Chakraborty R, Ntokou A, Saito J, Saddouk FZ, Feng Z, Misra A, Tellides G, Riemer RK, Urban Z, Kinnear C, Ellis J, Mital S, Mecham R, Martin KA, Greif DM. JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency. J Clin Invest. 2022 Mar 1;132(5).