Margrit Urbanek, PhD

Assistant Professor
Department of Medicine

Susceptibility genes for complex diseases

Curricula:
Molecular Biology and Genetics

E-mail:   m-urbanek@northwestern.edu

Dr. Urbanek’s research focuses on the identification of susceptibility genes for complex diseases.  Her approach to this research is to use family based gene-mapping techniques and population based association studies in conjunction with molecular techniques to identify and verify genes and pathways contributing to the pathogenesis of genetically complex diseases. Specifically she is carrying out studies to identify susceptibility genes for polycystic ovary syndrome (PCOS) that map to Chr19p3.13.  She has previously shown that this region shows linkage and association with PCOS in a large set of families.   Other projects focus on identifying candidate genes for gestational diabetes and  glycemic control during pregnancy,  and identifying genetic variation contributing to extreme obesity

Research topics
Identification of sequence variants in PCOS candidate genes.
Identification of candidate genes for contributing glycemic control during pregnancy and to gestational diabetes.
Genetic variation contributing to extreme obesity.
Linkage and family-based association studies.
Haplotype analysis.

Publications:

Urbanek M, Du Y, Silander K, Collins FS, Steppan CM, Strauss JF, 3rd, Dunaif A, Spielman RS, Legro RS (2002) Variation in resistin gene promoter not associated with polycystic ovary syndrome (PCOS). Diabetes in press

Legro RS, Urbanek M, Kunselman AR, Leiby BE, Dunaif A (2002) Self-selected women with polycystic ovary syndrome are reproductively and metabolically abnormal and under-treated. Fertil & Steril 78:51-7

Fujimoto T, Parry S, Urbanek M, Sammel M, Macones G, Kuivaniemi H, Romero R, Strauss, JF, 3rd, (2002) A single nucleotide polymorphism n the matrix metalloproteinase-1 (MMP-1) promoter influences amnion cell MMP-1 expression and risk for preterm premature rupture of the fetal membranes. J Biol Chem 277:6296-302

Weiss MJ, Guo C, Shusterman S, Hii G, Mirensky TL, White PS, Hogarty MD, Rebbeck TR, Teare D, Urbanek M, Brodeur GM, Maris JM. (2000)  Localization of a hereditary neuroblastoma predisposition gene to 16p12-p13. Med Pediatr Oncol  35:526-30

Urbanek, M, Legro, RS, Driscoll, DA, Strauss, JF, 3rd, Dunaif, A, Spielman, RS (2000)  Searching for the Polycystic Ovary Syndrome Genes.  J Ped Endocrinol & Metab 13:1311-1313.

Urbanek,  M, Wu, X, Vickery, KR, Kao, LC, Christenson, LK, Schneyer, A, Legro, RS, Driscoll, DA, Strauss, JF, 3rd, Dunaif, A, Spielman, RS (2000) Allelic variants of the follistatin gene in polycystic ovary syndrome.  J Clin Metab & Endocrinology. 85(12):4455-61.

Feldman, G, Li, M, Martin, S, Urbanek, M, Urtizberea, JA, Fardeau, M, LeMerrer, M, Connor, JM, Triffitt, J, Smith, R, Muenke, M, Kaplan, FS, Shore, EM (2000)  Fibrodysplasia  ossificans progressiva,  a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.  Am J Hum Genet. 66(1):128-135

Urbanek, M, Legro, RS, Driscoll, DA, Azziz, R, Ehrmann, DA, Norman, RJ, Strauss, JF, 3rd, Spielman, RS, Dunaif, A (1999) Thirty-seven candidate genes for polycystic ovary syndrome:  strongest evidence for linkage is with follistatin.  Proc Natl Acad Sci USA. 96:8573-8578.
PubMed website View Publications by Margrit Urbanek listed in the National Library of Medicine (PubMed).

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