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Ali S Alzahrani Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Meshael Alswailem Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Alexandre Buffet Université Paris Cité, Inserm, Paris Centre de Recherche Cardiovasculaire (PARCC), Equipe Labellisée Ligue contre le Cancer, Paris, France
Département de Médecine Génomique des Tumeurs et des Cancers, Fédération de Génétique et de Médecine Génomique, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Hôpital Européen Georges Pompidou, Paris, France

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Balgees Alghamdi Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Lulu Alobaid Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Osamah Alsagheir Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Hindi Al-Hindi Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Karel Pacak Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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less oncogenic than SDHx mutations, and this may explain the long indolent course of the disease in our patient and his very long survival with stable metastatic disease (47 years). Although his primary PGL needed multiple surgeries and he was treated

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-23-0303
Volume/Issue:
Volume 31: Issue 8
Restricted access
Roland Därr Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Joan Nambuba Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Jaydira Del Rivero Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Ingo Janssen Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Maria Merino Laboratory of Pathology, National Institutes of Health, Bethesda, Maryland, USA

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Milena Todorovic Institute of Hematology, Clinical Center of Serbia and Medical Faculty University of Belgrade, Belgrade, Serbia

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Bela Balint Institute of Transfusiology and Hemobiology of Military Medical Academy and Institute for Medical Research, University of Belgrade, Belgrade, Serbia

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Ivana Jochmanova Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
1st Department of Internal Medicine, Faculty of Medicine, Pavol Jozef Safarik University in Kosice, Kosice, Slovakia

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Josef T Prchal Division of Hematology, University of Utah, Salt Lake City, Utah, USA

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Ronald M Lechan Tupper Research Institute and Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, Tufts Medical Center, Boston, Massachusetts, USA

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Arthur S Tischler Department of Pathology and Laboratory Medicine, Tufts Medical Center, Boston, Massachusetts, USA

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Vera Popovic Institute of Endocrinology, Clinical Center of Serbia, Medical Faculty, University Belgrade, Belgrade, Serbia

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Dragana Miljic Institute of Endocrinology, Clinical Center of Serbia, Medical Faculty, University Belgrade, Belgrade, Serbia

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Karen T Adams Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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F Ryan Prall Department of Ophthalmology, Eugene and Marilyn Glick Eye Institute, Indiana University School of Medicine, Indianapolis, Indiana, USA

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Alexander Ling Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA

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Meredith R Golomb Division of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA

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Michael Ferguson Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA

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Naris Nilubol Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Clara C Chen Division of Nuclear Medicine, Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA

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Emily Chew Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA

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David Taïeb Department of Nuclear Medicine, La Timone University Hospital & CERIMED & Inserm UMR1068 Marseille Cancerology Research Center, Institut Paoli-Calmettes, Aix-Marseille University, Marseille, France

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Constantine A Stratakis Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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Tito Fojo Medical Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Chunzhang Yang Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Electron Kebebew Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Zhengping Zhuang Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Karel Pacak Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

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( SDHx ) mutations ( Eisenhofer et al . 2011 , Jochmanova et al . 2013 , Richter et al . 2013 ). As in these patients ( Neumann et al . 2002 ), HIF2A gain-of-function mutations may manifest with head and neck PGL. This was the case in patient No

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-16-0231
Volume/Issue:
Volume 23: Issue 12
Free access
Esther Korpershoek
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Bart-Jeroen Petri
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Francien H van Nederveen
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Winand N M Dinjens
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Albert A Verhofstad
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Wouter W de Herder
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Sonja Schmid
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Aurel Perren
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Paul Komminoth
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Ronald R de Krijger
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. Gimm O 2005 Pheochromocytoma-associated syndromes: genes, proteins and functions of RET , VHL and SDHx . Familial Cancer 4 17 –23. van der Harst E , de Krijger RR, Dinjens WN, Weeks LE, Bonjer HJ

Article Type:
Research Article
DOI:
https://doi.org/10.1677/ERC-06-0044
Volume/Issue:
Volume 14: Issue 2
Free access
N Tufton Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK

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R J Hearnden Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK

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D M Berney Department of Pathology, Royal London Hospital, Whitechapel, London, UK

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W M Drake Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK

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L Parvanta Department of Endocrine Surgery, St Bartholomew’s Hospital, Barts Health NHS Trust, West Smithfield, London, UK

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J P Chapple Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK

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S A Akker Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust. West Smithfield, London, UK

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tumour and very few differences between underlying genetic diagnosis. There was a higher M2:M1 ratio in cluster 1 ( SDHx, VHL, FH , n  = 27) tumours compared to cluster 2 ( RET , n  = 6) ( P  = 0.017) and a lower proportion of CD8 cytotoxic (Tc

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-22-0020
Volume/Issue:
Volume 29: Issue 11
Open access
Nicola Tufton Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust, West Smithfield, London, UK
Centre for Endocrinology, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK

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Rahul Ghelani Department of Endocrinology, Royal Free Hospital, Hampstead, London, UK

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Umasuthan Srirangalingam Department of Endocrinology, Royal Free Hospital, Hampstead, London, UK

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Ajith V Kumar North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK

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William M Drake Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust, West Smithfield, London, UK
Department of Endocrinology, Southampton General Hospital, University Hospital Southampton NHS Trust, Southampton, Hampshire, UK

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Donato Iacovazzo Department of Endocrinology, Southampton General Hospital, University Hospital Southampton NHS Trust, Southampton, Hampshire, UK

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Kassiani Skordilis Department of Histopathology, Queen Elizabeth Hospital, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK

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Daniel Berney Department of Histopathology, St Bartholomew’s Hospital, Barts Health NHS Trust, West Smithfield, London, UK

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Ma’en Al-Mrayat Department of Endocrinology, Southampton General Hospital, University Hospital Southampton NHS Trust, Southampton, Hampshire, UK

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Bernard Khoo Department of Endocrinology, Royal Free Hospital, Hampstead, London, UK

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Scott A Akker Department of Endocrinology, St Bartholomew’s Hospital, Barts Health NHS Trust, West Smithfield, London, UK

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). It has been hypothesised that this may be due to the second hit in the SDHx gene in the tumour tissue resulting in an inactive SDH complex with preservation of antigenicity ( Papathomas et al . 2015 ). Table 3 Investigations of pathogenicity

Article Type:
Letter
DOI:
https://doi.org/10.1530/ERC-17-0030
Volume/Issue:
Volume 24: Issue 7
Free access
Arthur S Tischler Department of Pathology and Laboratory Medicine, Tufts Medical Center and Tufts University School of Medicine, Boston, Massachusetts, USA

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Judith Favier Université Paris cité, Inserm UMR970 PARCC, Equipe Labellisée par la Ligue contre le cancer, Paris, France

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SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB/NF1 loss yields SDHx-like pheochromocytomas . Cell Reports 38 110453. ( https://doi.org/10.1016/j.celrep.2022.110453 ) Barthez PY Marks SL Woo J Feldman EC

Article Type:
Review Article
Collections:
Advances and Future Directions in Pheochromocytoma and Paraganglioma
DOI:
https://doi.org/10.1530/ERC-22-0405
Volume/Issue:
Volume 30: Issue 5
Free access
Luise Eckardt Target Discovery Institute, University of Oxford, Oxford, UK
Institute of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany

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Maria Prange-Barczynska Target Discovery Institute, University of Oxford, Oxford, UK
Ludwig Institute for Cancer Research, University of Oxford, Oxford, UK

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Emma J Hodson The Francis Crick Institute, London, UK
The Department of Experimental Medicine and Immunotherapeutics, University of Cambridge, Cambridge, UK

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James W Fielding Target Discovery Institute, University of Oxford, Oxford, UK
Ludwig Institute for Cancer Research, University of Oxford, Oxford, UK

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Xiaotong Cheng Target Discovery Institute, University of Oxford, Oxford, UK
Ludwig Institute for Cancer Research, University of Oxford, Oxford, UK

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Joanna D C C Lima Target Discovery Institute, University of Oxford, Oxford, UK

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Samvid Kurlekar Target Discovery Institute, University of Oxford, Oxford, UK

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Gillian Douglas BHF Centre of Research Excellence, Division of Cardiovascular Medicine, Radcliffe Department of Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK

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Peter J Ratcliffe Target Discovery Institute, University of Oxford, Oxford, UK
Ludwig Institute for Cancer Research, University of Oxford, Oxford, UK
The Francis Crick Institute, London, UK

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Tammie Bishop Target Discovery Institute, University of Oxford, Oxford, UK

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( SDHB / D / C / A or SDHx ) and fumarate hydratase ( FH ) ( Dahia et al. 2005 , Ladroue et al. 2008 , Zhuang et al. 2012 , Yang et al. 2015 ). Impaired function of the latter two enzymes leads to the accumulation of succinate and fumarate

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-21-0211
Volume/Issue:
Volume 28: Issue 12
Open access
Jay S Fonte Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Jeremyjones F Robles Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Clara C Chen Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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James Reynolds Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Millie Whatley Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Alexander Ling Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Leilani B Mercado-Asis Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Karen T Adams Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Victoria Martucci Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Tito Fojo Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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Karel Pacak Program in Reproductive and Adult Endocrinology, Nuclear Medicine Division, Radiology and Imaging Sciences Department, Section of Endocrinology and Metabolism, Medical Oncology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA

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– – SDHB 5 49/F P NMN NE NMN, T NE Apparently sporadic 6 46/F P NMN, MN None – – Apparently sporadic 7 36/F New P NMN NE NMN, T NE SDHB 8 40/F R NMN NE NMN, T NE, DA Apparently sporadic 9 55/M Met+New P NMN NE, DA NMN, T NE Neg for SDHx 10 54/M Met+New P

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-11-0243
Volume/Issue:
Volume 19: Issue 1
Free access
Amruta Ashtekar Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA

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Danielle Huk Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA

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Alexa Magner Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA

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Krista La Perle Department of Veterinary Biosciences and Comparative Pathology & Mouse Phenotyping Shared Resource, The Ohio State University, Columbus, Ohio, USA

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Xiaoli Zhang Department of Biostatistics, The Ohio State University, Columbus, Ohio, USA

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José I Piruat Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Seville, Spain

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José López-Barneo Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío CSIC Universidad de Sevilla, Seville, Spain

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Sissy M Jhiang Department of Physiology and Cell Biology, The Ohio State University, Columbus, Ohio, USA

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Lawrence S Kirschner Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA
Division of Endocrinology, Diabetes, and Metabolism, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, USA

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further studies for in-depth analysis of regulation of gene expression due to epigenetic changes in each model. These data also suggest that therapeutic reversal of DNA methylation may arise as an attractive approach to add to existing treatments of SDHx

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-17-0229
Volume/Issue:
Volume 24: Issue 11
Free access
E Patterson
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R Webb
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A Weisbrod
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B Bian
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M He
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L Zhang
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A K Holloway Endocrine Oncology Section, Gladstone Institutes, Program in Reproductive and Adult Endocrinology, NIH/NCI/Surgery Branch, National Cancer Institute, NIH, Hatfield Clinical Research Center, Room 4‐5952, 10 Center Drive, Bethesda, Maryland 20892, USA

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R Krishna
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N Nilubol
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K Pacak Endocrine Oncology Section, Gladstone Institutes, Program in Reproductive and Adult Endocrinology, NIH/NCI/Surgery Branch, National Cancer Institute, NIH, Hatfield Clinical Research Center, Room 4‐5952, 10 Center Drive, Bethesda, Maryland 20892, USA

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E Kebebew
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SDHx-related pheochromocytoma and paraganglioma . Endocrine-Related Cancer 16 391 – 400 . doi:10.1677/ERC-08-0284 . Tombol Z Eder K Kovacs A Szabo PM Kulka J Liko I Zalatnai A Racz G Toth M Patocs A 2010 MicroRNA expression

Article Type:
Research Article
DOI:
https://doi.org/10.1530/ERC-11-0308
Volume/Issue:
Volume 19: Issue 2
Free access