Metabolic Diseases Branch, Chief

NIDDK, National Institutes of Health
Building 10, Room 9C-103
Bethesda, MD 20892
Tel:301-496-5051
Fax:301-496-0200
Email: stephenM@intra.niddk.nih.gov

Degrees:
B.A., Yale, 1964
M.D., Johns Hopkins, 1968

Research Statement:
The Genetics and Endocrinology Section studies the genetic bases of primary hyperparathyroidism and its relations to other neoplastic disorders. We have cloned the gene for multiple endocrine neoplasia type 1 and found that it is implicated in many non-hereditary tumors. This tumor suppressor gene encodes a novel protein, menin. We are studying the actions of menin protein by yeast two-hybrid, micro-array, knockout, and other approaches. We have identified an important interaction of menin with junD, a nuclear transcription factor.

Selected Publications:
1. Marx SJ, Simonds WF Hereditary Hormone Excess: Genes, Molecular Pathways, and Syndromes. Endocr Rev , 2005. [Full Text/Abstract]

2. Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF, Mateo C, Crabtree JS, Scacheri PC, Ji Y, Novotny EA, Garrett-Beal L, Ward JM, Libutti SK, Richard Alexander H, Cerrato A, Parisi MJ, Santa Anna-A S, Oliver B, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ Molecular pathology of the MEN1 gene Ann N Y Acad Sci(1014): 189-98, 2004. [Full Text/Abstract]

3. Marx SJ Familial hypocalciuric hypercalcemia. In: Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Fifth Edition . Favus M. Lippincott, editors. Am Soc Bone Min Res, 2003. pp.239-41

4. Obungu VH, Lee Burns A, Agarwal SK, Chandrasekharapa SC, Adelstein RS, Marx SJ Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain. Oncogene (22): 6347-58, 2003. [Full Text/Abstract]

5. Crabtree JS, Scacheri PC, Ward JM, McNally SR, Swain GP, Montagna C, Hager JH, Hanahan D, Edlund H, Magnuson MA, Garrett-Beal L, Burns AL, Ried T, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS Of mice and MEN1: Insulinomas in a conditional mouse knockout. Mol Cell Biol (23): 6075-85, 2003. [Full Text/Abstract]

6. Libutti SK, Crabtree JS, Lorang D, Burns AL, Mazzanti C, Hewitt SM, O''Connor S, Ward JM, Emmert-Buck MR, Remaley A, Miller M, Turner E, Alexander HR, Arnold A, Marx SJ, Collins FS, Spiegel AM Parathyroid gland-specific deletion of the mouse Men1 gene results in parathyroid neoplasia and hypercalcemic hyperparathyroidism. Cancer Res (63): 8022-8, 2003. [Full Text/Abstract]

7. Chan TJ, Libutti SK, McCart JA, Chen C, Khan A, Skarulis MK, Weinstein LS, Doppman JL, Marx SJ, Alexander HR Persistent primary hyperparathyroidism caused by adenomas identified in pharyngeal or adjacent structures. World J Surg (27): 675-9, 2003. [Full Text/Abstract]

8. Elaraj DM, Skarulis MC, Libutti SK, Norton JA, Bartlett DL, Pingpank JF, Gibril F, Weinstein LS, Jensen RT, Marx SJ, Alexander HR Results of initial operation for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Surgery (134): 858-64; discussion 864-5, 2003. [Full Text/Abstract]

9. Sukhodolets KE, Hickman AB, Agarwal SK, Sukhodolets MV, Obungu VH, Novotny EA, Crabtree JS, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene. Mol Cell Biol (23): 493-509, 2003. [Full Text/Abstract]

10. Agarwal SK, Novotny EA, Crabtree JS, Weitzman JB, Yaniv M, Burns AL, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter. Proc Natl Acad Sci U S A (100): 10770-5, 2003. [Full Text/Abstract]

source: http://intramural.niddk.nih.gov/research/faculty.asp?People_ID=1516