description) The research focus of this Center will be the elucidation of the genetic basis of polycystic ovary syndrome (PCOS), a major cause of infertility and metabolic disease. The Center will support an interactive research program including investigators from the University of Pennsylvania, the Pennsylvania State University Milton S. Hershey Medical Center and the University of California, San Francisco. The major hypothesis is that PCOS is caused by abnormal alleles at one or several loci which cause intrinsic defects in ovarian androgen biosynthesis. A secondary hypothesis is that defects in the insulin signal transduction system lead to insulin resistance and subsequent metabolic complications, but enhanced ovarian androgen synthesis. These hypotheses will be addressed by a molecular genetic approach to the identification of PCOS-related genes based on a genome-wide linkage analysis; the exploration of biochemical and molecular differences in normal and PCO human thecal cells including an analysis of mechanisms of regulation of ovarian androgen production by insulin and a novel protein (leptin) secreted by fat; post-translational regulation of the activity of P450c17, a key enzyme controlling androgen synthesis; and a study of the life history and metabolic sequelae of PCOS in different ethnic groups.
| Gorsic, Lidija K; Kosova, Gulum; Werstein, Brian et al. (2017) Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome. J Clin Endocrinol Metab 102:2862-2872 |
| Legro, Richard S; Kunselman, Allen R; Stetter, Christy M et al. (2017) Normal Pubertal Development in Daughters of Women With PCOS: A Controlled Study. J Clin Endocrinol Metab 102:122-131 |
| Ketefian, Aline; Jones, Michelle R; Krauss, Ronald M et al. (2016) Association study of androgen signaling pathway genes in polycystic ovary syndrome. Fertil Steril 105:467-73.e4 |
| Tee, Meng Kian; Speek, Mart; Legeza, Balázs et al. (2016) Alternative splicing of DENND1A, a PCOS candidate gene, generates variant 2. Mol Cell Endocrinol 434:25-35 |
| Dumesic, Daniel A; Oberfield, Sharon E; Stener-Victorin, Elisabet et al. (2015) Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome. Endocr Rev 36:487-525 |
| Hayes, M Geoffrey; Urbanek, Margrit; Ehrmann, David A et al. (2015) Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun 6:7502 |
| Brower, Meredith A; Jones, Michelle R; Rotter, Jerome I et al. (2015) Further investigation in europeans of susceptibility variants for polycystic ovary syndrome discovered in genome-wide association studies of Chinese individuals. J Clin Endocrinol Metab 100:E182-6 |
| Du, Ping; Camacho, Fabian; McCall-Hosenfeld, Jennifer et al. (2015) Human Papillomavirus Vaccination Among Adults and Children in 5 US States. J Public Health Manag Pract 21:573-83 |
| Feiner, John R; Gropper, Michael A; Toy, Pearl et al. (2015) A Clinical Trial to Detect Subclinical Transfusion-induced Lung Injury during Surgery. Anesthesiology 123:126-35 |
| McAllister, Jan M; Legro, Richard S; Modi, Bhavi P et al. (2015) Functional genomics of PCOS: from GWAS to molecular mechanisms. Trends Endocrinol Metab 26:118-24 |
Showing the most recent 10 out of 153 publications
