Research Topics
Genomes and Genes | William F SimondsSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
|
Detail Information
Publications
G protein-regulated signaling dysfunction in human diseaseWilliam F Simonds
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892-1752, USA
J Investig Med 51:194-214. 2003
Cushing's syndrome in multiple endocrine neoplasia type 1William F Simonds
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
Clin Endocrinol (Oxf) 76:379-86. 2012..The purpose of this study was to characterize the range of presentations of CS in a large series of MEN1 patients...- Selective activation of effector pathways by brain-specific G protein beta5S Zhang
Metabolic Diseases Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 271:33575-9. 1996.... - Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindredsWilliam 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 - New dimensions in G protein signalling: G beta 5 and the RGS proteinsW F Simonds
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Pharm Acta Helv 74:333-6. 2000..These recent novel observations further reinforce the view of G beta 5 as a unique and highly specialized G protein subunit... - Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expressionGeoffrey 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... - Sleeping parathyroid tumor: rapid hyperfunction after removal of the dominant tumorSahzene Yavuz
Diabetes, Endocrine and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 97:1834-41. 2012..A fall of intraoperative serum PTH by a certain percentage during parathyroid surgery is often used as one criterion for ending the operation... - Nuclear localization of the G protein beta 5/R7-regulator of G protein signaling protein complex is dependent on R7 binding proteinLeelamma M Panicker
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1752, USA
J Neurochem 113:1101-12. 2010..These results suggest that R7BP contributes significantly to the nuclear localization of endogenous G beta(5)/R7-RGS complex in brain... - Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndromeWilliam 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... - Reoperation for parathyroid adenoma: a contemporary experienceAnathea 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... - Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndromeLeelamma M Panicker
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 10, Room 8C 101, Bethesda, Maryland 20892, USA
Endocr Relat Cancer 17:513-24. 2010.... - Association of type-O blood with neuroendocrine tumors in multiple endocrine neoplasia type 1Allison B Weisbrod
Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 98:E109-14. 2013..We recently reported an association between O blood type and the manifestation of pancreatic neuroendocrine tumors in a cohort of patients with Von Hippel-Lindau syndrome... - Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinomaWei 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... - Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic functionLing Lin
Metabolic Diseases Branch National Institutes of Diabetes, Digestive and Kidney Diseases, NIH, Room 8C 101, Building 10, 10 Center Drive, MSC 1752, Bethesda, MD 20892 1752, USA
Mol Cancer Res 5:183-93. 2007..These experiments identify for the first time a proapoptotic activity of endogenous parafibromin likely to be important in its role as a tumor suppressor and show a functional role for the NLS of parafibromin in this activity... - The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3Sunita 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... - Hyperparathyroidism in hereditary syndromes: special expressions and special managementsStephen 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... 
Preoperative localizing studies for initial parathyroidectomy in MEN1 syndrome: is there any benefit?Naris Nilubol
Endocrine Oncology Section, Surgery Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 10 Center Drive, MSC1201 Rm 3 3940, Bethesda, MD 20892 1201, USA
World J Surg 36:1368-74. 2012..The objective of the present study was to evaluate the utility of preoperative localizing studies in patients with MEN1 undergoing initial bilateral neck exploration (BNE) and parathyroidectomy for pHPT...- R7-binding protein targets the G protein beta 5/R7-regulator of G protein signaling complex to lipid rafts in neuronal cells and brainLylia Nini
Metabolic Diseases Branch, 10 8C 101, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
BMC Biochem 8:18. 2007.... - The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutationsAtsushi 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... - The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogeneLing Lin
Metabolic Diseases Branch, Building 10 Room 8C 101, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 105:17420-5. 2008..These experiments provide a previously uncharacterized mechanism for the anti-proliferative action of the parafibromin tumor suppressor protein resulting from PAF1 complex-mediated inhibition of the c-myc proto-oncogene... - Utility of rapid intraoperative parathyroid hormone assay to predict severe postoperative hypocalcemia after reoperation for hyperparathyroidismDina 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 value may be useful for identifying patients who will need closer postoperative monitoring or prophylactic supplementation... - Molecular pathology of the MEN1 geneSunita 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... - Assays of nuclear localization of R7/Gbeta5 complexesWilliam F Simonds
Metabolic Diseases Branch/NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
Methods Enzymol 390:210-23. 2004.... - HRPT2, a marker of parathyroid cancerLee S Weinstein
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, USA
N Engl J Med 349:1691-2. 2003 - Ggamma subunit-selective G protein beta 5 mutant defines regulators of G protein signaling protein binding requirement for nuclear localizationAlexandra M Rojkova
Metabolic Diseases Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 278:12507-12. 2003..The Ggamma-selective Gbeta(5) mutant was also excluded from the cell nucleus of transfected PC12 cells analyzed by laser confocal microscopy. These results define a requirement for RGS protein binding for Gbeta(5) nuclear expression... - Clinical and molecular genetics of parathyroid neoplasmsJohn M Sharretts
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bldg 10 Room 8C 101, 10 Center Dr MSC 1752 Bethesda, MD 20892 1752, USA
Best Pract Res Clin Endocrinol Metab 24:491-502. 2010..Studies of familial isolated HPT and analysis of chromosomal loss and gain in parathyroid tumours suggest that other genes relevant to parathyroid neoplasia await identification... - Parathyroid cancerJohn M Sharretts
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1752, USA
Semin Oncol 37:580-90. 2010..Metastatic disease can be palliated with surgical debulking. Medical therapy with the calcimimetic cinacalcet and bisphosphonates can ameliorate hypercalcemia in patients with inoperable disease... - Aromatase inhibitor treatment of menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndromeErin F Wolff
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA
Fertil Steril 98:1616-9. 2012..To describe the clinical management of menorrhagia in a woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT)... - Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in miceJian Hua Zhang
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 1752, USA
J Neurochem 119:544-54. 2011..Taken together with previous observations from Gnb5 KO mice, our findings suggest a model in which Gβ5 regulates dendritic arborization and/or synapse formation during development, in part by effects on gene expression... - Hereditary hormone excess: genes, molecular pathways, and syndromesStephen 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... - Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemiaSvetlana Pidasheva
Department of Medicine, McGill University, Montreal, Quebec, Canada
Hum Mol Genet 14:1679-90. 2005..This is the first study examining the function of the CASR signal sequence and reveals that both L11S and L13P mutants are markedly impaired with respect to cotranslational processing, accounting for the observed parathyroid dysfunction... - Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutationThomas G Kelly
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520-8064, USA
J Bone Miner Res 21:1666-71. 2006..This information can be used in diagnostic and management considerations, leading to early detection and removal of potentially malignant parathyroid tumors... - Editorial: Imaging to detect early endocrine cancersStephen J Marx
J Clin Endocrinol Metab 91:2861-3. 2006 - topors, a p53 and topoisomerase I-binding RING finger protein, is a coactivator of p53 in growth suppression induced by DNA damageLing Lin
Department of Molecular Embryology, Graduate School of Medicine, Chiba University, 1 8 1 Inohana, Chuo Ku, Chiba 260 8670, Japan
Oncogene 24:3385-96. 2005..We therefore postulate that topors mediates p53-dependent cellular responses induced by DNA damage, suggesting its physiological role as a tumor suppressor... - Adenylyl cyclase type-VIII activity is regulated by G(betagamma) subunitsDebora Steiner
Department of Neurobiology, The Weizmann Institute of Science, Rehovot 76100, Israel
Cell Signal 18:62-8. 2006..These results demonstrate that Gbetagamma (originating from agonist activation of these receptors) and probably not Galphai/o subunits are involved in the agonist inhibition of AC-VIII... - Ruling out a suspect: the role of beta-catenin mutation in benign parathyroid neoplasiaWilliam F Simonds
J Clin Endocrinol Metab 92:1235-6. 2007