Stephen J Marx

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management
    Stephen J Marx
    Genetics and Endocrinology Section, Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 98:3139-48. 2013
  2. pmc The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA
    Mol Cancer 7:65. 2008
  3. pmc Hyperparathyroid genes: sequences reveal answers and questions
    Stephen J Marx
    Metabolic Diseases Branch and Genetics and Endocrinology Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Endocr Pract 17:18-27. 2011
  4. ncbi request reprint Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression
    Geoffrey E Woodard
    1Metabolic Diseases Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 24:1272-6. 2005
  5. ncbi request reprint Hyperparathyroidism in hereditary syndromes: special expressions and special managements
    Stephen J Marx
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892 1802, USA
    J Bone Miner Res 17:N37-43. 2002
  6. pmc Of mice and MEN1: Insulinomas in a conditional mouse knockout
    Judy S Crabtree
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell Biol 23:6075-85. 2003
  7. ncbi request reprint Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain
    Victor H Obungu
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 22:6347-58. 2003
  8. pmc Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1802, USA
    J Clin Endocrinol Metab 94:1826-34. 2009
  9. ncbi request reprint Hereditary hormone excess: genes, molecular pathways, and syndromes
    Stephen J Marx
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases NIH, Building 10, Room 9C 101, 10 Center Drive, MSC 1802, Bethesda, MD 20892 1802, USA
    Endocr Rev 26:615-61. 2005
  10. ncbi request reprint Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1
    Peter C Scacheri
    National Human Genome Research Institute, National Institutes of Health, Bldg 31, Room 4B09, 31 Center Drive, Bethesda, Maryland 20892, USA
    Mamm Genome 15:872-7. 2004

Collaborators

  • Allen M Spiegel
  • Steven K Libutti
  • William F Simonds
  • Jerrold M Ward
  • Victor H Obungu
  • Robert T Jensen
  • Atsushi Ozawa
  • Stephen M Hewitt
  • Michael J Parisi
  • Sukhbir Kaur
  • Yan Wang
  • Judy S Crabtree
  • Jian Hua Zhang
  • Ling Lin
  • Brian Oliver
  • Soren Impey
  • Helena Edlund
  • Jonathan B Weitzman
  • Bing Yang
  • Sunita K Agarwal
  • Francis S Collins
  • H Richard Alexander
  • Peter C Scacheri
  • Settara C Chandrasekharappa
  • Anathea C Powell
  • H C Jennifer Shen
  • A Lee Burns
  • Monica C Skarulis
  • James F Pingpank
  • David L Bartlett
  • Lee S Weinstein
  • Elizabeth A Novotny
  • Carmen M Mateo
  • Craig Cochran
  • Dina M Elaraj
  • Jennifer E Rosen
  • Youngmi Ji
  • Karen E Sukhodolets
  • Teresa J Chan
  • Monica Skarulis
  • Seth M Steinberg
  • Dominique Lorang
  • Thomas Shawker
  • Clara C Chen
  • Richard Chang
  • Geoffrey E Woodard
  • Carmen Mateo
  • Wei Hao
  • Alyssa L Kennedy
  • Fathia Gibril
  • Alison B Hickman
  • Asha Adem
  • Kris Ylaya
  • Marybeth Hughes
  • Charles Heller
  • Michael F Collins
  • Mei He
  • James Reynolds
  • Anathea Powell
  • Amelia C Grover
  • Douglas Fraker
  • Sharon A Savage
  • Marybeth S Hughes
  • Sunita Agarwal
  • Geoffrey Seidel
  • Lauren M Yang
  • Richard H Goodman
  • Shannon McWeeney
  • Nijaguna B Prasad
  • Rui Zhu Zhang
  • Mon Li Chu
  • Yidong Chen
  • Abdel Elkahloun
  • Mohamad J Halawi
  • Stacie Perkins
  • Gregory E Crawford
  • Sean Davis
  • Paul S Meltzer
  • Duncan T Odom
  • Nick G Costouros
  • Sonia Santa Anna-A
  • Meghan T Miller
  • J Graeme Hodgson
  • Lisa Garrett-Beal
  • Koei Chin
  • Laura James-Newton
  • Aniello Cerrato
  • Joe W Gray
  • Ira Whitten
  • Michael E Mullendore

Detail Information

Publications34

  1. pmc Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management
    Stephen J Marx
    Genetics and Endocrinology Section, Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 98:3139-48. 2013
    ..Multiplicity of hormone-secreting tumors occurs in a substantial portion of hormone-excess states. Multiplicity increases the difficulty of management and drives the selection of special strategies...
  2. pmc The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA
    Mol Cancer 7:65. 2008
    ..HRPT2 encodes parafibromin. To identify parafibromin interacting proteins we used the yeast two-hybrid system for screening a heart cDNA library with parafibromin as the bait...
  3. pmc Hyperparathyroid genes: sequences reveal answers and questions
    Stephen J Marx
    Metabolic Diseases Branch and Genetics and Endocrinology Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Endocr Pract 17:18-27. 2011
    ..To review hyperparathyroid syndromes and genes...
  4. ncbi request reprint Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression
    Geoffrey E Woodard
    1Metabolic Diseases Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 24:1272-6. 2005
    ..These results demonstrate that human parafibromin is a nucleocytoplasmic protein with functions consistent with its postulated role as a tumor suppressor protein...
  5. ncbi request reprint Hyperparathyroidism in hereditary syndromes: special expressions and special managements
    Stephen J Marx
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892 1802, USA
    J Bone Miner Res 17:N37-43. 2002
    ..The CASR test, perhaps least urgent, has largely been unavailable. Further progress in molecular genetics will enhance understandings, diagnosis, and therapy of HPT...
  6. pmc Of mice and MEN1: Insulinomas in a conditional mouse knockout
    Judy S Crabtree
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell Biol 23:6075-85. 2003
    ..Comparative genomic hybridization of beta cell tumor DNA from these mice reveals duplication of chromosome 11, potentially revealing regions of interest with respect to tumorigenesis...
  7. ncbi request reprint Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain
    Victor H Obungu
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Oncogene 22:6347-58. 2003
    ..These data indicate that menin through binding to NMHC II-A could participate in cell division and in other processes that involve NMHC II-A...
  8. pmc Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1802, USA
    J Clin Endocrinol Metab 94:1826-34. 2009
    ..However, the prevalence of identifiable germline MEN1 mutations in familial MEN1 cases is only 70%. Some cases may have a germline mutation in another gene such as the p27 cyclin-dependent kinase inhibitor (CDKI)...
  9. ncbi request reprint Hereditary hormone excess: genes, molecular pathways, and syndromes
    Stephen J Marx
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases NIH, Building 10, Room 9C 101, 10 Center Drive, MSC 1802, Bethesda, MD 20892 1802, USA
    Endocr Rev 26:615-61. 2005
    ..In many cases, monoclonal proliferation causes hormone excess, probably as a secondary consequence of accumulation of cells with coincidental hormone-secretory ability...
  10. ncbi request reprint Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1
    Peter C Scacheri
    National Human Genome Research Institute, National Institutes of Health, Bldg 31, Room 4B09, 31 Center Drive, Bethesda, Maryland 20892, USA
    Mamm Genome 15:872-7. 2004
    ..These results argue against certain hypotheses previously proposed for the tissue specificity of tumor suppressor genes and provide insights to the mechanism of tissue specificity in MEN1...
  11. ncbi request reprint Molecular genetics of multiple endocrine neoplasia types 1 and 2
    Stephen J Marx
    National Institutes of Health, Building 10, Room 9C 101, Bethesda, Maryland 20892 1802, USA
    Nat Rev Cancer 5:367-75. 2005
    ..The recent discovery of the main gene in each MEN syndrome has furthered our understanding of not only hereditary but also sporadic tumours and has fostered new avenues of research...
  12. ncbi request reprint The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations
    Atsushi Ozawa
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1802, USA
    J Clin Endocrinol Metab 92:1948-51. 2007
    ..The prevalence of identified MEN1 mutations in this variant is lower than in familial MEN1 (7% vs. 90%), suggesting different causes. Recently, one case of this variant had a germline mutation of p27(Kip1)/CDKN1B...
  13. doi request reprint The MEN1 gene and pituitary tumours
    Sunita K Agarwal
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA
    Horm Res 71:131-8. 2009
    ..We present recent clinical and basic findings about the MEN1 gene, particularly concerning hereditary vs. common variety pituitary tumours...
  14. pmc Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1802, USA
    Neoplasia 9:101-7. 2007
    ..These unbiased data also suggest that menin could play a broad role in transcriptional regulation...
  15. ncbi request reprint Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds
    William F Simonds
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1752, USA
    Medicine (Baltimore) 81:1-26. 2002
  16. pmc The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene
    Karen E Sukhodolets
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1802, USA
    Mol Cell Biol 23:493-509. 2003
    ..This finding was consistent with the extensive overlap in the nuclear localization patterns of endogenous menin, RPA2, and RPA1 observed by immunofluorescence...
  17. ncbi request reprint Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome
    William F Simonds
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 89:96-102. 2004
    ..Even accounting for families with one of the three occult syndromes and false negative biochemical or DNA testing, these results indicate that an unexpectedly large fraction of FIHP has currently unrecognized causes...
  18. pmc Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter
    Sunita K Agarwal
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 100:10770-5. 2003
    ..To conclude, JunD changed from growth suppressor to growth promoter when its binding to menin was prevented by a JunD mutant unable to bind menin or by Men1-null genetic background...
  19. ncbi request reprint Parathyroid gland-specific deletion of the mouse Men1 gene results in parathyroid neoplasia and hypercalcemic hyperparathyroidism
    Steven K Libutti
    Surgery Branch, Center for Cancer Research, National Cancer Institute NIH, 10 Center Drive, Room 2B07, Bethesda, MD 20892, USA
    Cancer Res 63:8022-8. 2003
    ..This model provides a means for dissecting the molecular basis of this familial cancer syndrome and may allow for the development of new strategies to treat related forms of hypercalcemia...
  20. pmc Recapitulation of pancreatic neuroendocrine tumors in human multiple endocrine neoplasia type I syndrome via Pdx1-directed inactivation of Men1
    H C Jennifer Shen
    Tumor Angiogenesis Section, Surgery Branch, National Cancer Institute, Bethesda, Maryland 20892, USA
    Cancer Res 69:1858-66. 2009
    ..Based on our analysis, we propose that menin's ability to maintain cellular and microenvironment integrity might explain the endocrine- restrictive nature of the MEN1 syndrome...
  21. pmc Parathyroid tumor development involves deregulation of homeobox genes
    H C Jennifer Shen
    Tumor Angiogenesis Section, Surgery Branch, National Cancer Institute, NIH, Bethesda, MD 20892, USA
    Endocr Relat Cancer 15:267-75. 2008
    ..Our results strongly reinforce the idea that abnormal expression of developmental HOX genes can be critical in human cancer progression...
  22. pmc Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis
    Peter C Scacheri
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    PLoS Genet 2:e51. 2006
    ..Our findings expand the realm of menin-targeted genes several hundred-fold beyond that previously described and provide potential insights to the endocrine tumor bias observed in MEN1 patients...
  23. ncbi request reprint Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma
    Wei Hao
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 89:3776-84. 2004
    ..MEN1 carriers in such families should have periodic monitoring adjusted for the expected penetrance of tumors...
  24. ncbi request reprint Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability
    Peter C Scacheri
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
    Cancer Res 64:7039-44. 2004
    ..Thus, the somatic genetic changes that are postulated to lead to tumorigenesis in a mouse model of MEN1 must be unusually subtle, occurring at either the nucleotide level or through epigenetic mechanisms...
  25. ncbi request reprint Persistent primary hyperparathyroidism caused by adenomas identified in pharyngeal or adjacent structures
    Teresa J Chan
    National Cancer Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 2B07, Bethesda, Maryland 20892 1502, USA
    World J Surg 27:675-9. 2003
    ....
  26. ncbi request reprint Mouse embryo fibroblasts lacking the tumor suppressor menin show altered expression of extracellular matrix protein genes
    Youngmi Ji
    Genome Technology Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
    Mol Cancer Res 5:1041-51. 2007
    ..The expression changes associated with the loss of the tumor suppressor menin provide insights into the defective organogenesis observed during early embryonic development in Men1-null mouse embryos...
  27. ncbi request reprint Gland size is associated with changes in gene expression profiles in sporadic parathyroid adenomas
    Jennifer E Rosen
    Surgery Branch, National Cancer Institute, Building 10, Room 4W 5940, 10 Center Drive, Bethesda, Maryland 20892, USA
    Ann Surg Oncol 12:412-6. 2005
    ..The molecular pathways responsible for the variations in clinical severity of pHPT are unknown. We studied gene expression profiles in patients with SPAs and pHPT to determine associations between these changes and clinical parameters...
  28. ncbi request reprint Results of initial operation for hyperparathyroidism in patients with multiple endocrine neoplasia type 1
    Dina M Elaraj
    Surgery Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Surgery 134:858-64; discussion 864-5. 2003
    ..This study analyzes outcomes of a cohort of MEN1 patients undergoing initial PTx at one institution...
  29. pmc The utility of routine transcervical thymectomy for multiple endocrine neoplasia 1-related hyperparathyroidism
    Anathea C Powell
    Tumor Angiogenesis Section, Surgery Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA
    Surgery 144:878-83; discussion 883-4. 2008
    ..5 or 4 parathyroid glands and transcervical thymectomy (TCT). We reviewed our experience with initial operation for primary HPT to determine the outcome and utility of routine TCT...
  30. ncbi request reprint Utility of rapid intraoperative parathyroid hormone assay to predict severe postoperative hypocalcemia after reoperation for hyperparathyroidism
    Dina M Elaraj
    Surgery Branch, National Cancer Institute, Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases NIH, Building 10, Room 2B07, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Surgery 132:1028-33; discussion 1033-4. 2002
    ..This study's purpose was to determine the utility of intraoperative parathyroid hormone (IO-PTH) values in predicting the development of severe hypocalcemia for patients undergoing reoperation for primary hyperparathyroidism...
  31. pmc Reoperation for parathyroid adenoma: a contemporary experience
    Anathea C Powell
    Tumor Angiogenesis Section, Surgery Branch, NCI, Bethesda, MD, USA
    Surgery 146:1144-55. 2009
    ..We reviewed reoperations for persistent or recurrent sporadic parathyroid adenoma to evaluate and compare our current results and outcomes to our previous experience...
  32. pmc The tumor suppressor protein menin inhibits AKT activation by regulating its cellular localization
    Yan Wang
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA
    Cancer Res 71:371-82. 2011
    ..Together, our results suggest menin as an important novel negative regulator of AKT kinase activity...
  33. ncbi request reprint Role of preoperative localization and intraoperative localization maneuvers including intraoperative PTH assay determination for patients with persistent or recurrent hyperparathyroidism
    H Richard Alexander
    Surgery Branch, Center for Cancer Research, NCI, National Institutes of Health, Bethesda, Maryland 20892 1502, USA
    J Bone Miner Res 17:N133-40. 2002
    ....
  34. ncbi request reprint Molecular pathology of the MEN1 gene
    Sunita K Agarwal
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ann N Y Acad Sci 1014:189-98. 2004
    ..The Men1+/- mouse has robust MEN1; its most important difference from human MEN1 is marked hyperplasia of pancreatic islets, a tumor precursor stage...