 | Stephen J Marx∘∘Show email addressOffice of the Scientific Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Eunice Kennedy Shriver National Institute of Child ... |
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Stephen J Marx∘∘:Expert Impact
Concepts for whichStephen J Marx∘∘has direct influence:Multiple endocrine,Men1 gene,Primary hyperparathyroidism,Neoplasia type,Endocrine neoplasia,Parathyroid hormone,Multiple endocrine neoplasia,Parathyroid glands.
Stephen J Marx∘∘:KOL impact
Concepts related to the work of other authors for whichfor which Stephen J Marx∘∘ has influence:Multiple endocrine,Primary hyperparathyroidism,Parathyroid hormone,Neoplasia type,Men1 gene,Pituitary adenomas,Medullary thyroid carcinoma.
KOL Resume for Stephen J Marx∘∘
| Year | |
|---|---|
| 2019 | Office of the Scientific Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland |
| 2018 | Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, Maryland, USA. Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland Metabolic Disease Branch, National Institutes of Digestive Disease and Kidney, National Institutes of Health, Bethesda, MD. Unidade de Endocrinologia Genetica UEG, Laboratorio de Endocrinologia Celular e Molecular LIM-25, Disciplina de Endocrinologia. |
| 2017 | Hospital das Clinicas, University of São Paulo School of Medicine Sao Paulo, Sao Paulo, Brazil. Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA. The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892 Metabolic Disease Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland |
| 2016 | The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA |
| 2015 | Genetics and Endocrinology Section National Institute of Diabetes and Digestive and Kidney Diseases National Institutes of Health, Bethesda Maryland 20892. Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA All authors: National Institutes of Health, Bethesda, MD. |
| 2014 | Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Building 10, Room 9C-103, 9000 Rockville, Bethesda, MD 20892, USA Genetics and Endocrinology Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892. National Cancer Institute, Bethesda, MD |
| 2013 | Genetics and Endocrinology Section, Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA. |
| 2012 | Metabolic Diseases Branch (L.S.W., W.F.S., S.J.M.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 |
| 2011 | 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. Professor of Medicine, Harvard Medical School, Senior Physician and Chief, Thyroid Section, Division of Endocrinology, Diabetes, and Metabolism, Brigham and Women’s Hospital, Boston, Massachusetts |
| 2010 | From the *Department of Medical Oncology, Dana-Farber Cancer Institute, Boston MA; †Division of Hematology-Oncology, Louisiana State University Health Sciences Center, New Orleans, LA; ‡Department of Radiology, University of Iowa Hospitals and Clinics, Iowa City, IA; §Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; ∥Division of Nuclear Medicine, Department of Radiology, New York-Presbyterian Hospital, Weill Medical College of Cornell University; ¶Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY; #Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases/National Institutes of Health, Bethesda, MD; **Department of Surgery, University of Calgary, Calgary Alberta, Canada; ††Division of Surgical Oncology, Department of General Surgery, Oregon Health & Science University, Portland, OR; ‡‡Department of Gastrointestinal Medical Oncology, University of Texas, MD Anderson Cancer Center, Houston, TX; and §§Digestive Diseases Branch, National Institutes of Health, Bethesda, MD. Authors' Affiliations: Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland; Department of Medicine and Molecular Science, Gunma University Graduate School of Medicine, Gunma, Japan; Cancer Genetics Branch, National Human Genome Research Institute, NIH, Bethesda; and Department of Surgery, Johns Hopkins University, Baltimore, Maryland |
| 2009 | Metabolic Diseases Branch, NIDDK, Bethesda, MD National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 |
| 2008 | Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA |
| 2007 | National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA |
| 2006 | National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, United States of America |
| 2005 | Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 20892, Bethesda, Maryland |
| 2004 | National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA |
| 2003 | National Institute of Diabetes and Digestive and Kidney Diseases |
| 2002 | Surgery Branch, National Cancer Institute, Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, and Biostatistics and Data Management Section, National Institutes of Health, Bethesda, Md Metabolic Diseases Branch (S.J.M.), National Institute of Diabetes and Digestive and Kidney Diseases |
| 2001 | Metabolic Diseases Branch, NIDDK, NIH, U.S.A. National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 Bethesda, Md, New York, NY, San Francisco, Calif, and Philadelphia, Pa |
| 2000 | Metabolic Diseases Branch, National Institute for Diabetes, Digestive and Kidney Diseases, NIH, Bethesda, Maryland |
| 1999 | Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA. National Institutes of Health, Bethesda Md Bethesda, Md |
| 1998 | Metabolic Diseases Branch, NIDDK, NIH/NIDDK/MDB, Bldg. 10, Room 9C‐ 101, 10 Center Dr., MSC 1802, Bethesda, MD 20892‐1802. Fax: (301) 496‐0200 National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892 |
| Concept | World rank |
|---|---|
| multiple endocrine population | #1 |
| hormoneresponse coupling | #1 |
| 24ohase induction | #1 |
| express mutation | #1 |
| sporadic tumors parathyroids | #1 |
| atypical form phpt | #1 |
| glands reoperation | #1 |
| testosterone oversecretion | #1 |
| prolactinomas carcinoids | #1 |
| fihp mutation | #1 |
| polyclonal hyperplasia | #1 |
| time 125oh2d3 receptor | #1 |
| germline men1 | #1 |
| familial infant infusions | #1 |
| fihp small kindreds | #1 |
| typical men1 features | #1 |
| calcemic response doses | #1 |
| persistent primary | #1 |
| hormoneexcess states | #1 |
| neoplasia parathyroid | #1 |
| patients hptjt | #1 |
| uniodinated species | #1 |
| hypercalcemia features | #1 |
| gene multiple | #1 |
| cases men1 | #1 |
| calciferols vitamin | #1 |
| 125oh2d3 actions | #1 |
| p002 hyperplasias | #1 |
| cases hereditary resistance | #1 |
| hypercalcemia heterozygotes | #1 |
| patients historically expected | #1 |
| hereditary resistance 125dihydroxyvitamin | #1 |
| 30 106 | #1 |
| parathyroid enteropancreatic | #1 |
| accumulation cytoplasm | #1 |
| pair newfoundland | #1 |
| fhh atypical form | #1 |
| fhh distinct entity | #1 |
| knockout parathyroid glands | #1 |
| normocalcemia kindreds | #1 |
| 106 3h2425oh2d3 production | #1 |
| hypercalcemia initial parathyroidectomy | #1 |
| hyperparathyroidism familial | #1 |
| men1 gene | #1 |
| radioligand interaction | #1 |
| calcium patients | #1 |
| management multiplicity | #1 |
| gland parathyroid | #1 |
| accumulation vdrs | #1 |
| missed adenoma | #1 |
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Prominent publications by Stephen J Marx∘∘
Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States
[ PUBLICATION ]
CONTEXT: Germline mutation in the MEN1 gene is the usual cause of multiple endocrine neoplasia type 1 (MEN1). 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).
OBJECTIVE: The aim of the study was to investigate cases of MEN1 or related states for germline mutations in all CDKI genes.
METHODS: A total of 196 consecutive index ...
| Known for Germline Mutation | Kinase Inhibitor | Neoplasia Type | Cdki Genes | Cases Men1 |
PURPOSE: Gastro-entero-pancreatic neuroendocrine tumors (GEPNETs) are increasing in incidence, and accurate staging is important for selecting the appropriate treatment. (68)Ga-DOTATATE imaging is a promising approach for detecting GEPNETs and could help in selecting optimal therapeutic strategies. The aim of this study was to prospectively determine the clinical utility of (68)Ga-DOTATATE positron emission tomography (PET)/computed tomography (CT) in detecting unknown primary and ...
| Known for Unknown Primary | Emission Tomography | Pancreatic Neuroendocrine | Dotatate Positron | Anatomic Imaging |
Pseudohypoparathyroidism type I is characterized by resistance (defined as a deficient urinary cAMP response) to parathyroid hormone and, in most cases, hypocalcemia and hyperphosphatemia. Many patients with pseudohypoparathyroidism type I snow a peculiar somatic phenotype termed Albright's hereditary osteodystrophy, but patients without this feature who show identical parathyroid hormone resistance have been described. Parathyroid hormone resistance in pseudohypoparathyroidism type I ...
| Known for Deficient Activity | Multiple Hormones | Regulatory Protein | Pseudohypoparathyroidism Type | Adenylate Cyclase |
Loss of heterozygosity (LOH) for polymorphic markers flanking the multiple endocrine neoplasia type 1 (MEN-1) gene in parathyroid and pancreatic islet tumors from subjects with familial MEN-1 (FMEN-1) has been well documented and has led to the hypothesis that the MEN-1 gene functions as a tumor suppressor. To assess the role of the MEN-1 gene in the pathogenesis of tumors less commonly associated with MEN-1, we employed a large number of highly informative polymorphic markers closely ...
| Known for Pituitary Tumors | Endocrine Neoplasia | Type 1 | Lung Carcinoids | Loss Heterozygosity |
Lung carcinoids occur sporadically and rarely in association with multiple endocrine neoplasia type 1 (MEN1). There are no well defined genetic abnormalities known to occur in these tumors. We studied 11 sporadic lung carcinoids for loss of heterozygosity (LOH) at the locus of the MEN1 gene on chromosome 11q13, and for mutations of the MEN1 gene using dideoxy fingerprinting. Additionally, a lung carcinoid from a MEN1 patient was studied. In four of 11 (36%) sporadic tumors, both copies ...
| Known for Men1 Gene | Carcinoid Tumors | Heterozygosity Lung | 1 Neoplasm | Mutation Loss |
BACKGROUND: Primary hyperparathyroidism (HPT) in multiple endocrine neoplasia type 1 (MEN1) patients with Zollinger-Ellison syndrome (ZES) is caused by parathyroid hyperplasia. Surgery for parathyroid hyperplasia is tricky and difficult. Long-term outcome in ZES/MEN1/HPT is not well known.
METHODS: Eighty-four consecutive patients (49 F/35 M) with ZES/MEN1/HPT underwent initial parathyroidectomy (PTX) and were followed at 1- to 3-year intervals.
RESULTS: Age at PTX was 36 +/- 2 years. ...
| Known for Primary Hyperparathyroidism | Endocrine Neoplasia | Type 1 | Ellison Syndrome | Parathyroid Hyperplasia |
Multiple Facial Angiofibromas and Collagenomas in Patients With Multiple Endocrine Neoplasia Type 1
[ PUBLICATION ]
OBJECTIVES: To evaluate patients with multiple endocrine neoplasia type 1 (MEN 1) for cutaneous manifestations.
DESIGN: Survey during a 3-year period.
SETTING: The National Institutes of Health, a tertiary referral research hospital in Bethesda Md.
PATIENTS: A consecutive sample of 32 individuals with previously diagnosed MEN1 who were not preselected for the presence of skin lesions were examined for cutaneous abnormalities. None of the patients or family members were diagnosed as ...
| Known for Facial Angiofibromas | Patients Men1 | Tuberous Sclerosis | Type 1 | Endocrine Neoplasia |
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors
[ PUBLICATION ]
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome, characterized primarily by multiple tumors in the parathyroid glands, endocrine pancreas, and anterior pituitary. Other tumors, including gastrinoma, carcinoid, adrenal cortical tumors, angiofibroma, collagenoma, and lipoma, also occur in some patients. Individuals with MEN1 almost always have loss-of-function mutations in the MEN1 gene on chromosome 11, and endocrine tumors arising in these patients ...
| Known for Mouse Model | Endocrine Tumors | Type 1 | Pancreatic Islets | Lethal Genes |
Primary hyperparathyroidism is a common disorder with an annual incidence of approximately 0.5 in 1,000 (ref. 1). In more than 95% of cases, the disease is caused by sporadic parathyroid adenoma or sporadic hyperplasia. Some cases are caused by inherited syndromes, such as multiple endocrine neoplasia type 1 (MEN1; ref. 2). In most cases, the molecular basis of parathyroid neoplasia is unknown. Parathyroid adenomas are usually monoclonal3,4, suggesting that one important step in tumour ...
| Known for Parathyroid Tumours | Men1 Gene | Somatic Mutation | Molecular Basis | Neoplasm Proteins |
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant trait comprising hypercalcemia, hypophosphatemia, parathyroid hyperplasia, and unusually low renal clearance of calcium. We evaluated the role of parathyroid hormone in the relative hypocalciuria of FHH and characterized the renal transport of calcium in this disorder using three previously hypercalcemic FHH patients with surgical hypoparathyroidism and three controls with surgical hypoparathyroidism. Intravenous ...
| Known for Relative Hypocalciuria | Patients Fhh | Urinary Calcium | Hypocalciuric Hypercalcemia | Ascending Limb |
