Margrit Urbanek

Summary

Affiliation: Northwestern University
Country: USA

Publications

  1. pmc The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study
    Margrit Urbanek
    Division on Endocrinology, Metabolism and Molecular Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 22:3583-96. 2013
  2. pmc The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy
    Margrit Urbanek
    Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America
    PLoS ONE 7:e32958. 2012
  3. ncbi request reprint The genetics of the polycystic ovary syndrome
    Margrit Urbanek
    Division of Endocrinology, Metabolism, and Molecular Medicine and the Center for Genetic Medicine, Northwestern University Medical School, Chicago, IL, USA
    Nat Clin Pract Endocrinol Metab 3:103-11. 2007
  4. pmc The role of genetic variation in the lamin a/c gene in the etiology of polycystic ovary syndrome
    Margrit Urbanek
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Tarry 15 717, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 94:2665-9. 2009
  5. ncbi request reprint Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype
    Margrit Urbanek
    Division of Endocrinology, Metabolism, and Molecular Medicine, 303 East Chicago Avenue, Tarry 15 717, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 92:4191-8. 2007
  6. ncbi request reprint Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2
    M Urbanek
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University School of Medicine, 303 East Chicago Avenue, Tarry 15 717, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 90:6623-9. 2005
  7. pmc Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the I
    Rachel M Freathy
    Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
    Diabetes 59:2682-9. 2010
  8. pmc Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS
    Sudha K Yalamanchi
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
    Obesity (Silver Spring) 20:1273-8. 2012
  9. pmc Evidence for chromosome 2p16.3 polycystic ovary syndrome susceptibility locus in affected women of European ancestry
    Priscilla Mutharasan
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 98:E185-90. 2013
  10. pmc Ethnic variation in allele distribution of the androgen receptor (AR) (CAG)n repeat
    Christine M Ackerman
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Feinberg School of Medicine, 303 E Chicago Ave, Chicago, IL 60611, USA
    J Androl 33:210-5. 2012

Collaborators

Detail Information

Publications22

  1. pmc The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study
    Margrit Urbanek
    Division on Endocrinology, Metabolism and Molecular Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 22:3583-96. 2013
    ..This region has previously been shown to be associated with birth weight in Europeans. The current study suggests that association of this locus with birth weight is secondary to an effect on fat as opposed to lean body mass...
  2. pmc The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy
    Margrit Urbanek
    Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America
    PLoS ONE 7:e32958. 2012
    ....
  3. ncbi request reprint The genetics of the polycystic ovary syndrome
    Margrit Urbanek
    Division of Endocrinology, Metabolism, and Molecular Medicine and the Center for Genetic Medicine, Northwestern University Medical School, Chicago, IL, USA
    Nat Clin Pract Endocrinol Metab 3:103-11. 2007
    ....
  4. pmc The role of genetic variation in the lamin a/c gene in the etiology of polycystic ovary syndrome
    Margrit Urbanek
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Tarry 15 717, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 94:2665-9. 2009
    ..We performed this study to test the hypothesis that variation in the lamin a/c gene (LMNA) contributes to milder phenotypes of insulin resistance, hyperandrogenism, and/or metabolic syndrome associated with polycystic ovary syndrome (PCOS)...
  5. ncbi request reprint Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype
    Margrit Urbanek
    Division of Endocrinology, Metabolism, and Molecular Medicine, 303 East Chicago Avenue, Tarry 15 717, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 92:4191-8. 2007
    ..We previously mapped a PCOS susceptibility locus to chromosome 19p13.2 near the dinucleotide repeat marker D19S884...
  6. ncbi request reprint Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2
    M Urbanek
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University School of Medicine, 303 East Chicago Avenue, Tarry 15 717, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 90:6623-9. 2005
    ..Polycystic ovary syndrome (PCOS) is a common endocrine disorder that is believed to have a genetic basis. However, no specific susceptibility gene or region has been conclusively identified...
  7. pmc Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the I
    Rachel M Freathy
    Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
    Diabetes 59:2682-9. 2010
    ..We hypothesized that these variants are associated with quantitative measures of glycemia in pregnancy...
  8. pmc Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS
    Sudha K Yalamanchi
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
    Obesity (Silver Spring) 20:1273-8. 2012
    ..The FBN3 risk allele may be associated with changes in basal glucose homeostasis in PCOS. These findings require replication in additional PCOS cohorts...
  9. pmc Evidence for chromosome 2p16.3 polycystic ovary syndrome susceptibility locus in affected women of European ancestry
    Priscilla Mutharasan
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 98:E185-90. 2013
    ..3 encoding the LH/choriogonadotropin receptor (LHCGR) and FSH receptor (FSHR) genes as a reproducible PCOS susceptibility locus...
  10. pmc Ethnic variation in allele distribution of the androgen receptor (AR) (CAG)n repeat
    Christine M Ackerman
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Feinberg School of Medicine, 303 E Chicago Ave, Chicago, IL 60611, USA
    J Androl 33:210-5. 2012
    ..Significant interethnic differences in the allele frequencies of the AR exon 1 (CAG)(n) polymorphism exist. Our results suggest that there may be potential ethnic differences in androgenic pathway activity and androgen sensitivity...
  11. pmc Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies
    M Geoffrey Hayes
    Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
    Diabetes 62:3282-91. 2013
    ..These results suggest that the genetic architecture underlying glucose metabolism may differ, in part, in pregnancy. ..
  12. pmc Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts
    Mark O Goodarzi
    Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Cedars Sinai Medical Center, Los Angeles, California, USA
    J Med Genet 49:90-5. 2012
    ..3 (luteinising hormone/choriogonadotropin receptor; LHCGR), 2p21 (thyroid associated protein; THADA), and 9q33.3 (DENN/MADD domain containing 1A; DENNDIA). The impact of these loci in non-Chinese PCOS cohorts remains to be determined...
  13. pmc Evidence for association between polycystic ovary syndrome (PCOS) and TCF7L2 and glucose intolerance in women with PCOS and TCF7L2
    Assel Biyasheva
    Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, Illinois 60611, USA
    J Clin Endocrinol Metab 94:2617-25. 2009
    ....
  14. ncbi request reprint The inflammatory gene pathway is not a major contributor to polycystic ovary snydrome
    Surabhi Bhatt
    Division of Endocrinology, Metabolism, and Molecular Medicine S B, P M, O A G, A D, M U and Center for Genetic Medicine N J, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611 and Department of Obstetrics and Gynecology R S L, Pennsylvania State University, College of Medicine, Hershey, Pennsylvania 17033
    J Clin Endocrinol Metab 99:E567-71. 2014
    ..Although inflammation is clearly associated with obesity, diabetes, and insulin resistance, the role of chronic inflammation in the etiology of polycystic ovary syndrome (PCOS) is unclear...
  15. pmc Genetics of the polycystic ovary syndrome
    Gülüm Kosova
    Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, United States
    Mol Cell Endocrinol 373:29-38. 2013
    ..Furthermore, we address current challenges in genetic studies of PCOS, and the promise of new approaches, including genome-wide association studies and next-generation sequencing...
  16. ncbi request reprint Associations of serum sex hormone binding globulin (SHBG) levels with SHBG gene polymorphisms in the CARDIA Male Hormone Study
    Andrew Turk
    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY, USA
    Am J Epidemiol 167:412-8. 2008
    ..There was no relation between D327N genotype and SHBG levels. These results suggest that the (TAAAA)(n) repeat length in the SHBG gene, but not the D327N variant, might contribute to the interindividual variability in serum SHBG levels...
  17. pmc Accumulation of cadmium in insulin-producing β cells
    Malek El Muayed
    Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
    Islets 4:405-16. 2012
    ..This uptake leads to a functional impairment of β-cell function without significant alterations in cell viability, expression of genes important for β-cell function or increase in oxidative stress...
  18. ncbi request reprint The molecular phenotype of polycystic ovary syndrome (PCOS) theca cells and new candidate PCOS genes defined by microarray analysis
    Jennifer R Wood
    Center for Research on Reproduction and Women s Health, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 278:26380-90. 2003
    ....
  19. ncbi request reprint Variation in resistin gene promoter not associated with polycystic ovary syndrome
    Margrit Urbanek
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Diabetes 52:214-7. 2003
    ..3 and PCOS. Instead, this association is most likely due to a gene or genetic element in this region that has not been identified...
  20. ncbi request reprint Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13
    John M Maris
    Department of Pediatrics, University of Pennsylvania School of Medicine and Children s Hospital of Philadelphia, Abramson Pediatric Research Center, Philadelphia, Pennsylvania 19104 4318, USA
    Cancer Res 62:6651-8. 2002
    ..Taken together, these data suggest that a hereditary neuroblastoma predisposition gene (HNB1) is located at 16p12-13 and that disruption of this gene may contribute to the pathogenesis of nonfamilial neuroblastomas...
  21. ncbi request reprint Self-selected women with polycystic ovary syndrome are reproductively and metabolically abnormal and undertreated
    Richard S Legro
    M S Hershey Medical Center, Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Hershey, Pennsylvania 17033, USA
    Fertil Steril 78:51-7. 2002
    ..To determine whether self-selected women with polycystic ovary syndrome (PCOS) are abnormal compared with a control population...
  22. ncbi request reprint A single nucleotide polymorphism in the matrix metalloproteinase-1 (MMP-1) promoter influences amnion cell MMP-1 expression and risk for preterm premature rupture of the fetal membranes
    Toshio Fujimoto
    Center for Research on Reproduction and Women s Health, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 277:6296-302. 2002
    ..We conclude that the 2G allele has stronger promoter activity in amnion cells, that it confers increased responsiveness of amnion cells to stimuli that induce MMP-1, and that this polymorphism contributes to the risk of PPROM...