U.S. Department of Health and Human Services
Stephen Marx

 Contact Info

Tel: 301-496-5051
Email: marxs@mail.nih.gov

 Select Experience

  • M.D.Johns Hopkins University1968
  • B.A.Yale University1964

 Related Links


    Stephen J. Marx, M.D.

    Senior Investigator, Metabolic Diseases BranchGenetics and Endocrinology Section
    • Endocrinology
    • Genetics/Genomics


    A selection of recent and significant publications can be viewed below.

    Gluick T, Yuan Z, Libutti SK, Marx SJ. Mutations in CDKN2C (p18) and CDKN2D (p19) may cause sporadic parathyroid adenoma. Endocr Relat Cancer. ; 20:L27-9. [Full Text/Abstract]
    Marx SJ. Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management. J. Clin. Endocrinol. Metab. 2013 Aug; 98:3139-48. [Full Text/Abstract]
    Agarwal SK, Mateo CM, Marx SJ. Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J. Clin. Endocrinol. Metab. 2009 May; 94:1826-34. [Full Text/Abstract]
    Eastell R, Arnold A, Brandi ML, Brown EM, D'Amour P, Hanley DA, Rao DS, Rubin MR, Goltzman D, Silverberg SJ, Marx SJ, Peacock M, Mosekilde L, Bouillon R, Lewiecki EM. Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop. J Clin Endocrinol Metab. ; 94:340-50. [Full Text/Abstract]
    Ozawa A, Agarwal SK, Mateo CM, Burns AL, Rice TS, Kennedy PA, Quigley CM, Simonds WF, Weinstein LS, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. J. Clin. Endocrinol. Metab. 2007 May; 92:1948-51. [Full Text/Abstract]
    Agarwal SK, Impey S, McWeeney S, Scacheri PC, Collins FS, Goodman RH, Spiegel AM, Marx SJ. Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation. Neoplasia. 2007 Feb; 9:101-7. [Full Text/Abstract]
    Marx SJ, Simonds WF. Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr. Rev. 2005 Aug; 26:615-61. [Full Text/Abstract]
    Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat. Rev. Cancer. 2005 May; 5:367-75. [Full Text/Abstract]
    Scacheri PC, Crabtree JS, Kennedy AL, Swain GP, Ward JM, Marx SJ, Spiegel AM, Collins FS. Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. Mamm. Genome. 2004 Nov; 15:872-7. [Full Text/Abstract]
    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. 2003 Sep 16; 100:10770-5. [Full Text/Abstract]
    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. 2003 Sep; 23:6075-85. [Full Text/Abstract]
    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. 2003 Jan; 23:493-509. [Full Text/Abstract]
    Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath H 3rd, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. ; 32:676-80. [Full Text/Abstract]
    Marx SJ, Simonds WF, Agarwal SK, Burns AL, Weinstein LS, Cochran C, Skarulis MC, Spiegel AM, Libutti SK, Alexander HR Jr, Chen CC, Chang R, Chandrasekharappa SC, Collins FS. Hyperparathyroidism in hereditary syndromes: special expressions and special managements. J. Bone Miner. Res. 2002 Nov; 17 Suppl 2:N37-43. [Full Text/Abstract]
    Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. ; 86:5658-71. [Full Text/Abstract]
    Crabtree JS, Scacheri PC, Ward JM, Garrett-Beal L, Emmert-Buck MR, Edgemon KA, Lorang D, Libutti SK, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS. A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci U S A. ; 98:1118-23. [Full Text/Abstract]
    Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell. ; 96:143-52. [Full Text/Abstract]
    Heppner C, Kester MB, Agarwal SK, Debelenko LV, Emmert-Buck MR, Guru SC, Manickam P, Olufemi SE, Skarulis MC, Doppman JL, Alexander RH, Kim YS, Saggar SK, Lubensky IA, Zhuang Z, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ. Somatic mutation of the MEN1 gene in parathyroid tumours. Nat Genet. ; 16:375-8. [Full Text/Abstract]
    Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. ; 276:404-7. [Full Text/Abstract]
    Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. ; 75:1297-303. [Full Text/Abstract]
    Bilezikian JP, Khan A, Arnold A, Brandi ML, Brown E, Bouillon R, Camacho P, Clark O, D'Amour P, Eastell R, Goltzman D, Hanley DA, Lewiecki EM, Marx S, Mosekilde L, Pasieka JL, Peacock M, Rao D, Reid IR, Rubin M, Shoback D, Silverberg S, Sturgeon C, Udelsman R, Young JE, Potts JT.. Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the third international workshop. J Clin Endocrinol Metab. 2009 Feb. [Full Text/Abstract]
    Marx SJ, Wells SA Jr., Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Elsevier Saunders.. Multiple Endocrine Neoplasia. Chapter 41. Williams Textbook of Endocrinology 12th Edition. Ed . [Full Text/Abstract]
    Arnold A, Marx SJ., Rosen C, et al. Wiley-Blackwell, John Wiley & Sons, Inc. 553-561, 2013. Familial hyperparathyroidism (Including MEN, FHH, and HPT-JT). Primer on the Metabolic Bone Diseases and Mineral Metabolism 8th Edition. Ed . [Full Text/Abstract]