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Beth A. Kozel, MD, PhD

Current Position
Instructor, Pediatrics
Division of Genetics and Genomic Medicine

Specialty Areas
Genetics - Pediatric

Patients Seen At
St. Louis Children's Hospital

One Children's Place, Suite D, 2nd Floor
St. Louis, MO  63110
Fax:   314-454-2075
View Driving Directions

Mailing Address
Washington University School of Medicine
CB 8116
660 South Euclid Ave
St. Louis , MO  63110

Areas of Clinical Interest
chromosomal changes, inherited disorders, multiple medical problems of unknown origin, elastic fiber diseases, Williams-Beuren syndrome, supravalvular aortic stenosis, cutis laxa.

Areas of Research Interest
Dr Kozel is interested in the biology of elastic fiber formation and works with patients with elastic fiber diseases. Her current research is aimed at understanding why the severity of these conditions varies within individuals of the same family and among families.

Board Certification
Pediatrics -- Certified
Medical Genetics -- Certified

Medical Education
B.A.: Washington University in St. Louis, St. Louis MO, 1996
Medical Degree: Washington University School of Medicine, St. Louis MO, 2004
PhD: Washington University School of Medicine, St. Louis MO, 2004
Residency: Pediatrics, St. Louis Children's Hospital, 2007
Fellowship: Genetics and Genomic Medicine, Washington University School of Medicine, 2009
Hospital Affiliations
St. Louis Children's Hospital, St. Louis MO

Selected or Recent Journal Articles
Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP. Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem. 2012 Jun 22;287(26):22055-67.

Kozel BA, Knutsen RH, Ye L, Ciliberto CH, Broekelmann TJ, Mecham RP. Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation. J Biol Chem. 2011 Dec 30;286(52):44926-36.

Ware, S. M., Zhang, Q., Ma, Y.W., Miller, E., Ma, Y.-W., Tang, L.-Y., Wong, B., Spicer, R.L., Craigen, W.J., Kozel, B.A., Grange, D.K., and Wong, L-J. (2009) Infantile cardiomyopathy caused by a mutation in the overlapping region of ATPase 6 and 8 genes. J Med Genet May 46(5):308-14. Epub 2009, February 2.

Shinawi, M., Liu, P., Kang, S.H., Shen, J., Belmont, J., Scott, D., Probst, F., Craigen, F., Graham, B., Pursley, A., Clark, G., Lee, J., Proud, M., Stocco, A., Rodriguez, D., Kozel, B.A., Sparagana, S., Roeder, E.R., McGrew, S.G., Kurczynski, T.W., Allison, L.J., Amato, S., Savage, S., Patel, A., Stankiewicz, P., Beaudet, A.L, Cheung, S.W., and Lupski, J.R. (2009). Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. Submitted, American Journal of Human Genetics.

Toib, A., MD, Grange, D.K., Kozel, B.A. Ewald, G.A, MD, White, F.V., and Canter, C.E. (2009) Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women. Submitted Journal of the American College of Cardiology.

Kozel BA, Rongish BJ, Czirok A, Zach J, Little CD, Davis EC, Knutsen RH, Wagenseil JE, Levy MA, Mecham RP. Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters. J Cell Physiol. 2006 Apr;207(1):87-96.

Czirok, A., Zach, J., Kozel, B. A., Mecham, R. P., Davis, E. C. and Rongish, B. J. Elastic fiber macro-assembly is a hierarchical, cell motion-mediated process. J Cell Physiol 207, 97-106, (2006).

Broekelmann TJ, Kozel BA, Ishibashi H, Werneck CC, Keeley FW, Zhang L, Mecham RP. Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain. J Biol Chem. 2005 Dec 9;280(49):40939-47. Epub 2005 Sep 27.

Kozel BA, Ciliberto CH, Mecham RP. Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells. Matrix Biol. 2004 Apr;23(1):23-34.

Kozel BA, Wachi H, Davis EC, Mecham RP. Domains in tropoelastin that mediate elastin deposition in vitro and in vivo. J Biol Chem. 2003 May 16;278(20):18491-8. Epub 2003 Mar 6.

For more articles and abstracts, take this off-site link to the National Library of Medicine Pub Med page for Dr. Beth A. Kozel.

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Copyright 2015 Washington University School of Medicine