Dianna M. Milewicz, M.D., Ph.D.
6431 Fannin, MSB 6.100
Houston, Texas 77030
The University of Texas Southwestern Medical School, 1984
Human genetic diseases of the cardiovascular system; developmental biology of the extracellular matrix; inherited disorder of connective tissues
The long range objective of my research is to understand the molecular basis of inherited diseases that affect the cardiovascular system. Our lab is particularly interested in disorders that disrupt the components of the elastic fiber system, in particular mutations in the genes for the fibrillin and elastin proteins (FBN1, FBN2, and ELN genes). We are interested in how mutations in these genes affect protein structure and function.
A tutorial in my laboratory would provide experience in metabolically labeling and analyzing proteins synthesized by cells. In addition, we use a wide range of molecular biology techniques, including single stranded conformational polymorphism (SSCP), polymerase chain reaction (PCR), polymorphic marker analysis, and sequencing.
Vital, M.C., Mintz-Hittner, H.A., Milewicz, D.M.: Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with marfan syndrome. Arch Opthalmol. 121(4):579-81. 2003.
Hasham, S.N., Willing, M.C., Guo, D., Muilenburg, A., He, R., Tran, V., Scherer, S., Shete, S., Milewicz, D.M.: Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 107(25):3184-90, 2003.
Frazier-Bowers, S.A., Pham, K.Y., Le E., Cavender, A., Kapadia, H., King, T., Milewicz, D.M., D’Souza, R.N.: A unique form of Hypodontia observed in Vietnamese patients: clinical and molecular analysis. J. of Medical Genetics 40(6):e79, 2003.
Jiang, Z., Okhuysen, P.C., Guo, D., He, R., King, T.M., DuPont, H.L., Milewicz, D.M.: Genetic susceptibility to enteroaggregative Escherichia Coli Diarrhea-polymorphism in Interleukin-8 promoter region. J. of Infectious Diseases 188(4):506-11, 2003.
Zhou, X., Tan, F.K., Wang, N., Xiong, M., Maghidman, S., Reveille, J.D., Milewicz, D.M., Chakraborty, R., Arnett, F.C.: Genome-wide search and fine-scale mapping for genetic susceptibility to systemic Sclerosis in a Native American population with high disease prevalence. Arthritis and Rheumatism (9):2585-92, 2003.
Kim, D.H., VanGinhoeven, G., Milewicz, D.M. The incidence of familial intracranial aneurysms in 200 patients: Comparison between Caucasian, African-American and Hispanic populations. J. of Neurosurgery 53(2):302-8, 2003.
Guo, D., Qi, Y., He, R., Gupta, P., Milewicz, D.M.: High throughput detection of small genomic insertions and deletions by pyrosequencing. J. Biotechniques 25(20):1703-7, 2003.
Wallis, D.D., Putnam, E.A., Cretoiu, J.S., Carmical, S.G., Cao, S., Thomas, G., Milewicz, D.M.: Profibrillin-1 Maturation by Human dermal fibroblasts: Proteolytic processing and molecular chaperones. J. of Cellular Biochemistry 90:641-52, 2003.
Guo, D., Milewicz, D.M. Methodology for using a universal primer to label amplified DNA segments for molecular analysis. Biotechnol Lett. 25(24):2079-83, 2003.
Hasham, S., Lewin, M.R., Tran, V., Pannu, H., Muilenburg, M.S., Willing, M., Milewicz, D.M. Genetic predisposition to aortic dissection. Annals of Emer. Med. 43(1):79-82, 2004.
Wallis, D.D., Tan, F.K., Keasler, R., Kimball, M.D., Cretoiu, J.S., Arnett, F.C., Milewicz, D.M.: Fibrillin-1 Abnormalities in dermal fibroblast cultures from first degree relatives of patients with systematic sclerosis (Scleroderma). Arthritis and Rheumatology, 50(1):329-32, 2004.
Cohen, P.R. and Milewicz, D.M. Dolichonychia in woman with Marfan syndrome. Southern Medical Journal, 97(4):354-8, 2004.
Boccalandro, C., de Mattia, F., Guo, D., Xue, L., Gupta, P., King, T.M., Orlander, P.R., Deen, P.M.T., Lavis, Victor R., Milewicz, D.M.: Characterization of an aquaporin-2 water channel gene mutation causing nephrogenic diabetes insipidus in a Mexican family: evidence of a founder effect of the mutation in a Mexican town. J Am Soc Nephrol. 5(5):1223-31, 2004
Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM.: FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet.41(5):e56, 2004
Zhou, X., Tan, F.K., Guo, X., Wallis, D., Milewicz, D.M., Xue, S., Arnett, F.C.: Small Interfering RNA Inhibition of SPARC Attenuates the Profibrotic Effect of Transforming Growth Factor _1 in Cultured Normal Human Fibroblasts, Arthritis Rheum;52(1):257-61, 2005.