Zsolt Urban

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. ncbi request reprint Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin
    Zsolt Urban
    Department of Anatomy, University of Hawaii, Honolulu, Hawaii, USA
    J Invest Dermatol 124:1193-9. 2005
  2. pmc Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development
    Zsolt Urban
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 85:593-605. 2009
  3. pmc Mechanisms of emphysema in autosomal dominant cutis laxa
    Qirui Hu
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Matrix Biol 29:621-8. 2010
  4. pmc Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa
    Hideki Sugitani
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 287:22055-67. 2012
  5. ncbi request reprint Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
    Qirui Hu
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 15:3379-86. 2006
  6. pmc Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
    Vishwanathan Hucthagowder
    Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8208, St Louis, MO 63110, USA
    Hum Mol Genet 18:2149-65. 2009
  7. doi request reprint Cutis laxa: a review
    David R Berk
    Department of Internal Medicine, Division of Dermatology, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri 63110, USA
    J Am Acad Dermatol 66:842.e1-17. 2012
  8. pmc GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
    Andy Willaert
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA
    Hum Mol Genet 21:1248-59. 2012
  9. pmc Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome
    Vishwanathan Hucthagowder
    Department of Pediatrics Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 78:1075-80. 2006
  10. pmc Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis
    Robert C Bauer
    Department of Pediatrics, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Hum Mutat 31:594-601. 2010

Collaborators

Detail Information

Publications18

  1. ncbi request reprint Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin
    Zsolt Urban
    Department of Anatomy, University of Hawaii, Honolulu, Hawaii, USA
    J Invest Dermatol 124:1193-9. 2005
    ..We conclude that elastin mutations can cause CL associated with a severe pulmonary phenotype. Synthesis of abnormal TE may interfere with elastic fiber function through a dominant-negative or a gain of function mechanism...
  2. pmc Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development
    Zsolt Urban
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 85:593-605. 2009
    ..Our results show that coupling of TGF-beta signaling and ECM assembly is essential for proper development and is achieved in multiple human organ systems by multifunctional proteins such as LTBP4...
  3. pmc Mechanisms of emphysema in autosomal dominant cutis laxa
    Qirui Hu
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Matrix Biol 29:621-8. 2010
    ..We propose that the combined effects of these processes lead to the development of an emphysematous pulmonary phenotype in CL...
  4. pmc Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa
    Hideki Sugitani
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 287:22055-67. 2012
    ..Our results confirm the critical role of the C-terminal region of tropoelastin in elastic fiber assembly and suggest tissue-specific differences in the elastin assembly pathway...
  5. ncbi request reprint Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
    Qirui Hu
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 15:3379-86. 2006
    ..These findings support the hypothesis that fibulin-5 is necessary for elastic fiber formation by facilitating the deposition of elastin onto a microfibrillar scaffold via direct molecular interactions...
  6. pmc Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
    Vishwanathan Hucthagowder
    Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8208, St Louis, MO 63110, USA
    Hum Mol Genet 18:2149-65. 2009
    ..We conclude that loss-of-function mutations in ATP6V0A2 lead to TE aggregation in the Golgi, impaired clearance of TE aggregates and increased apoptosis of elastogenic cells...
  7. doi request reprint Cutis laxa: a review
    David R Berk
    Department of Internal Medicine, Division of Dermatology, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri 63110, USA
    J Am Acad Dermatol 66:842.e1-17. 2012
    ..Recent molecular studies have provided many new insights into the causes of cutis laxa and revealed greater genetic heterogeneity than previously appreciated...
  8. pmc GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
    Andy Willaert
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA
    Hum Mol Genet 21:1248-59. 2012
    ..Taken together, glut10 is essential for cardiovascular development by facilitating both mitochondrial respiration and TGFβ signaling...
  9. pmc Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome
    Vishwanathan Hucthagowder
    Department of Pediatrics Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 78:1075-80. 2006
    ..We conclude that fibulin-4 is necessary for elastic fiber formation and connective tissue development...
  10. pmc Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis
    Robert C Bauer
    Department of Pediatrics, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Hum Mutat 31:594-601. 2010
    ..Patients with right-sided cardiac defects should be carefully screened for features of AGS or a family history of cardiac defects that might suggest the presence of a JAG1 mutation...
  11. ncbi request reprint Population differences in elastin maturation in optic nerve head tissue and astrocytes
    Zsolt Urban
    Department of Pediatrics, Washington University, St Louis, Missouri, USA
    Invest Ophthalmol Vis Sci 48:3209-15. 2007
    ....
  12. pmc Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
    Barbara R Pober
    Department of Pediatrics, MassGeneral Hospital for Children, Simches Research Building, Rm 222, 185 Cambridge St, Boston, Massachusetts 02114, USA
    J Clin Invest 118:1606-15. 2008
    ....
  13. pmc Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome
    Zsolt Urban
    Pacific Biomedical Research Center, University of Hawaii, Honolulu, USA
    Am J Hum Genet 71:30-44. 2002
    ..This results in the formation of multilayer thickening of the tunica media of large arteries and, consequently, in the development of hyperplastic intimal lesions leading to segmental arterial occlusion...
  14. ncbi request reprint Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes
    Qirui Hu
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Invest Dermatol 126:283-90. 2006
    ..These results suggest that the pathogenesis of acquired CL involves an underlying genetic susceptibility and highlight the importance of molecular genetic analysis in patients with idiopathic connective tissue disorders...
  15. ncbi request reprint Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
    Uwe Kornak
    Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics, Berlin, Germany
    Nat Genet 40:32-4. 2008
    ..These results indicate that the a2 subunit of the proton pump has an important role in Golgi function...
  16. ncbi request reprint Distinct steps of cross-linking, self-association, and maturation of tropoelastin are necessary for elastic fiber formation
    Fumiaki Sato
    Department of Clinical Chemistry, Hoshi University School of Pharmacy and Pharmaceutical Sciences, 2 4 41 Ebara, Shinagawa ku, Tokyo 142 8501, Japan
    J Mol Biol 369:841-51. 2007
    ....
  17. pmc Domains 16 and 17 of tropoelastin in elastic fibre formation
    Hiroshi Wachi
    Department of Clinical Chemistry, Hoshi University School of Pharmacy and Pharmaceutical Sciences, 2 4 41 Ebara, Shinagawa ku, Tokyo 142 8501, Japan
    Biochem J 402:63-70. 2007
    ..This study is the first to discover that domains of elastin play an essential role in elastic fibre formation by facilitating homotypic interactions...
  18. doi request reprint Characterization of the molecular interaction between tropoelastin and DANCE/fibulin-5
    Hiroshi Wachi
    Department of Clinical Chemistry, Hoshi University School of Pharmacy and Pharmaceutical Sciences, 2 4 41 Ebara, Shinagawa ku, Tokyo 142 8501, Japan
    J Biochem 143:633-9. 2008
    ..Taken together, the present study shows that fibulin-5 enhances elastic fiber formation in part by improving the self-association properties of tropoelastin...