U.S. Department of Health and Human Services

Metabolic Diseases Branch

Lee S. Weinstein, M.D., Chief


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 (20; 6) :L27-9. [Full Text/Abstract]
Costa-Guda J, Soong CP, Parekh VI, Agarwal SK, Arnold A. Germline and Somatic Mutations in Cyclin-Dependent Kinase Inhibitor Genes CDKN1A, CDKN2B, and CDKN2C in Sporadic Parathyroid Adenomas.Horm Cancer. 2013 Oct; 4 (2013 Oct; 4; 5) :301-7. [Full Text/Abstract]
Marx SJ. Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management.J. Clin. Endocrinol. Metab. 2013 Aug; 98 (8; 98; 2013 Aug) :3139-48. [Full Text/Abstract]
Shi K, Parekh VI, Roy S, Desai SS, Agarwal SK. The embryonic transcription factor Hlxb9 is a menin interacting partner that controls pancreatic β-cell proliferation and the expression of insulin regulators.Endocr. Relat. Cancer. 2013 Feb; 20 (20; 2013 Feb; 1) :111-22. [Full Text/Abstract]
Chen M, Berger A, Kablan A, Zhang J, Gavrilova O, Weinstein LS. Gsα deficiency in the paraventricular nucleus of the hypothalamus partially contributes to obesity associated with Gsα mutations.Endocrinology. 2012 Sep; 153 (153; 2012 Sep; 9) :4256-65. [Full Text/Abstract]
Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS. Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B.J. Clin. Endocrinol. Metab. 2012 Sep; 97 (2012 Sep; 97; 9) :3025-30. [Full Text/Abstract]
Simonds WF, Varghese S, Marx SJ, Nieman LK. Cushing's syndrome in multiple endocrine neoplasia type 1.Clin. Endocrinol. (Oxf). 2012 Mar; 76 (76; 2012 Mar; 3) :379-86. [Full Text/Abstract]
Zhang JH, Pandey M, Seigneur EM, Panicker LM, Koo L, Schwartz OM, Chen W, Chen CK, Simonds WF. Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice.J. Neurochem. 2011 Nov; 119 (2011 Nov; 119; 3) :544-54. [Full Text/Abstract]
Chen M, Mema E, Kelleher J, Nemechek N, Berger A, Wang J, Xie T, Gavrilova O, Drucker DJ, Weinstein LS. Absence of the glucagon-like peptide-1 receptor does not affect the metabolic phenotype of mice with liver-specific G(s)α deficiency.Endocrinology. 2011 Sep; 152 (2011 Sep; 152; 9) :3343-50. [Full Text/Abstract]
Chen M, Nemechek NM, Mema E, Wang J, Weinstein LS. Effects of deficiency of the G protein Gsα on energy and glucose homeostasis.Eur. J. Pharmacol. 2011 Jun 11; 660 (660; 2011 Jun 11; 1) :119-24. [Full Text/Abstract]
Wang Y, Ozawa A, Zaman S, Prasad NB, Chandrasekharappa SC, Agarwal SK, Marx SJ. The tumor suppressor protein menin inhibits AKT activation by regulating its cellular localization.Cancer Res. 2011 Jan 15; 71 (71; 2; 2011 Jan 15) :371-82. [Full Text/Abstract]
Sharretts JM, Kebebew E, Simonds WF. Parathyroid cancer.Semin. Oncol. 2010 Dec; 37 (6; 2010 Dec; 37) :580-90. [Full Text/Abstract]
Xie T, Chen M, Weinstein LS. Pancreas-specific Gsalpha deficiency has divergent effects on pancreatic alpha- and beta-cell proliferation.J. Endocrinol. 2010 Sep; 206 (206; 2010 Sep; 3) :261-9. [Full Text/Abstract]
Sharretts JM, Simonds WF. Clinical and molecular genetics of parathyroid neoplasms.Best Pract. Res. Clin. Endocrinol. Metab. 2010 Jun; 24 (2010 Jun; 3; 24) :491-502. [Full Text/Abstract]
Panicker LM, Zhang JH, Dagur PK, Gastinger MJ, Simonds WF. Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.Endocr. Relat. Cancer. 2010 Jun; 17 (2010 Jun; 2; 17) :513-24. [Full Text/Abstract]
Panicker LM, Zhang JH, Posokhova E, Gastinger MJ, Martemyanov KA, Simonds WF. Nuclear localization of the G protein beta 5/R7-regulator of G protein signaling protein complex is dependent on R7 binding protein.J. Neurochem. 2010 Jun; 113 (113; 2010 Jun; 5) :1101-12. [Full Text/Abstract]
Chen M, Chen H, Nguyen A, Gupta D, Wang J, Lai EW, Pacak K, Gavrilova O, Quon MJ, Weinstein LS. G(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesis.Cell Metab. 2010 Apr 7; 11 (2010 Apr 7; 4; 11) :320-30. [Full Text/Abstract]
Chen M, Wang J, Dickerson KE, Kelleher J, Xie T, Gupta D, Lai EW, Pacak K, Gavrilova O, Weinstein LS. Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation.Cell Metab. 2009 Jun; 9 (6; 9; 2009 Jun) :548-55. [Full Text/Abstract]
Adams GB, Alley IR, Chung UI, Chabner KT, Jeanson NT, Lo Celso C, Marsters ES, Chen M, Weinstein LS, Lin CP, Kronenberg HM, Scadden DT. Haematopoietic stem cells depend on Galpha(s)-mediated signalling to engraft bone marrow.Nature. 2009 May 7; 459 (2009 May 7; 459; 7243) :103-7. [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 (94; 5; 2009 May) :1826-34. [Full Text/Abstract]
Agarwal SK, Ozawa A, Mateo CM, Marx SJ. The MEN1 gene and pituitary tumours.Horm. Res. 2009 Apr; 71 Suppl 2 (2009 Apr; 71 Suppl 2) :131-8. [Full Text/Abstract]
Chen M, Feng HZ, Gupta D, Kelleher J, Dickerson KE, Wang J, Hunt D, Jou W, Gavrilova O, Jin JP, Weinstein LS. G(s)alpha deficiency in skeletal muscle leads to reduced muscle mass, fiber-type switching, and glucose intolerance without insulin resistance or deficiency.Am. J. Physiol., Cell Physiol. 2009 Apr; 296 (2009 Apr; 296; 4) :C930-40. [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 (94; 2) :340-50. [Full Text/Abstract]
Lin L, Zhang JH, Panicker LM, Simonds WF. The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene.Proc. Natl. Acad. Sci. U.S.A. 2008 Nov 11; 105 (105; 2008 Nov 11; 45) :17420-5. [Full Text/Abstract]
Xie T, Chen M, Gavrilova O, Lai EW, Liu J, Weinstein LS. Severe obesity and insulin resistance due to deletion of the maternal Gsalpha allele is reversed by paternal deletion of the Gsalpha imprint control region.Endocrinology. 2008 May; 149 (149; 2008 May; 5) :2443-50. [Full Text/Abstract]
Shen HC, Rosen JE, Yang LM, Savage SA, Burns AL, Mateo CM, Agarwal SK, Chandrasekharappa SC, Spiegel AM, Collins FS, Marx SJ, Libutti SK. Parathyroid tumor development involves deregulation of homeobox genes.Endocr. Relat. Cancer. 2008 Mar; 15 (2008 Mar; 15; 1) :267-75. [Full Text/Abstract]
Xie T, Chen M, Zhang QH, Ma Z, Weinstein LS. Beta cell-specific deficiency of the stimulatory G protein alpha-subunit Gsalpha leads to reduced beta cell mass and insulin-deficient diabetes.Proc. Natl. Acad. Sci. U.S.A. 2007 Dec 4; 104 (104; 49; 2007 Dec 4) :19601-6. [Full Text/Abstract]
Ji Y, Prasad NB, Novotny EA, Kaur S, Elkahloun A, Chen Y, Zhang RZ, Chu ML, Agarwal SK, Marx SJ, Collins FS, Chandrasekharappa SC. Mouse embryo fibroblasts lacking the tumor suppressor menin show altered expression of extracellular matrix protein genes.Mol. Cancer Res. 2007 Oct; 5 (2007 Oct; 10; 5) :1041-51. [Full Text/Abstract]
Weinstein LS, Xie T, Zhang QH, Chen M. Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology.Pharmacol. Ther. 2007 Aug; 115 (2007 Aug; 2; 115) :271-91. [Full Text/Abstract]