mmary of Work: The goal of this work is to understand the genetic and molecular mechanisms leading to disorders that affect the adrenal cortex, with emphasis on those that are hereditary and associated with multiple tumors and abnormalities in other endocrine glands (i.e. the pituitary gland) and tissues of neuroectodermal origin (i.e. the melanocytes). Our laboratory has studied families with Carney complex (CC) (also known as the icomplex of myxomas, spotty skin pigmentation, endocrine overactivity and schwannomasi) and related syndromes. Through genetic linkage analysis two genomic loci harboring genes for CC have been identified on human chromosomes 2 and 17 (corresponding to cytogenetic bands 2p15-16 and 17q21-22, respectively). A comprehensive genetic and physical map of the 2p16 chromosomal region is currently under construction for the cloning of CC-causing gene(s), through meiotic and radiation hybrid analysis of sequence tagged sites (STS) cloned from this genomic area and the synthesis of yeast and bacterial artificial chromosomes (YAC/BAC) contig that cover 10 Mb on 2p15-16. Through studies in cultured primary tumor cell lines established from our patients a region of amplification has been identified in the center of this contig; 4 novel genes (with unknown function) have been identified and are currently being screened for mutations in patients with CC and other disorders mapped in the area. In collaboration with Mayo Clinic, the genetic defects in patients with CC-related syndromes (i.e. Peutz-Jeghers syndrome) are being identified. Genome wide screens are also ongoing in our laboratory for the identification of childhood adrenocortical cancer-related genes and the gene(s) responsible for inherited adrenocortical aldosteronomas (familial hyperaldosteronism type-II).""""""""
| Hodes, Aaron; Lodish, Maya B; Tirosh, Amit et al. (2017) Hair cortisol in the evaluation of Cushing syndrome. Endocrine 56:164-174 |
| London, Edra; Nesterova, Maria; Stratakis, Constantine A (2017) Acute vs chronic exposure to high fat diet leads to distinct regulation of PKA. J Mol Endocrinol 59:1-12 |
| Tirosh, Amit; Hannah-Shmouni, Fady; Lyssikatos, Charalampos et al. (2017) Obesity and the diagnostic accuracy for primary aldosteronism. J Clin Hypertens (Greenwich) 19:790-797 |
| Keil, Margaret F; Briassoulis, George; Stratakis, Constantine A et al. (2016) Protein Kinase A and Anxiety-Related Behaviors: A Mini-Review. Front Endocrinol (Lausanne) 7:83 |
| Keil, Margaret F; Zametkin, Alan; Ryder, Celia et al. (2016) Cases of Psychiatric Morbidity in Pediatric Patients After Remission of Cushing Syndrome. Pediatrics 137: |
| Briassoulis, George; Keil, Margaret F; Naved, Bilal et al. (2016) Studies of mice with cyclic AMP-dependent protein kinase (PKA) defects reveal the critical role of PKA's catalytic subunits in anxiety. Behav Brain Res 307:1-10 |
| Correa, Ricardo; Zilbermint, Mihail; Berthon, Annabel et al. (2015) The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia. Eur J Endocrinol 173:435-40 |
| de Alexandre, Rodrigo B; Horvath, Anelia D; Szarek, Eva et al. (2015) Phosphodiesterase sequence variants may predispose to prostate cancer. Endocr Relat Cancer 22:519-30 |
| Lai, Jin-Ping; Lee, Chyi-Chia; Crocker, Melissa et al. (2015) Isolated Large Cell Calcifying Sertoli Cell Tumor in a Young Boy, not Associated with Peutz-Jeghers Syndrome or Carney Complex. Ann Clin Lab Res 3:2 |
| Zilbermint, Mihail; Stratakis, Constantine A (2015) Protein kinase A defects and cortisol-producing adrenal tumors. Curr Opin Endocrinol Diabetes Obes 22:157-62 |
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