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Amarjit Saini Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Linda Björkhem-Bergman Division of Clinical Geriatrics, Departments of Neurobiology, Care Sciences and Neurobiology, Karolinska Institutet, Stockholm, Sweden

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Johan Boström Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Mats Lilja Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Michael Melin Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden
Unit of Cardiology, Karolinska University Hospital, Stockholm, Sweden

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Karl Olsson Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Lena Ekström Division of Clinical Pharmacology, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden

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Peter Bergman Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden

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Mikael Altun Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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Eric Rullman Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden
Unit of Cardiology, Karolinska University Hospital, Stockholm, Sweden

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Thomas Gustafsson Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
Unit of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden

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), VDR and CYP24A1, were ordered as assay on demand (GAPDH, 4352934E; VDR, Hs00172113_m1; CYP24A1, Hs00167999_m1; PerkinElmer, Applied Biosystems). Target gene expression was subsequently reported as a ratio relative to the respective reference genes by

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0194
Volume/Issue:
Volume 8: Issue 7
Open access
Pamela Stratton Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA

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Neelam Giri Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sonia Bhala Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Martha M Sklavos Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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Blanche P Alter Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sharon A Savage Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Ligia A Pinto Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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pathogenic variants in telomere biology genes ( 12 ). Similar to FA, the risk of BMF and cancer is high in individuals with DC/TBDs ( 1 , 4 , 12 ). DBA, caused by germline variants in genes encoding ribosomal subunits, may present with anemia at birth, with

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0510
Volume/Issue:
Volume 13: Issue 9
Open access
Fabienne A U Fox Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany

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Lennart Koch Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany
University for Health Sciences, Medical Informatics and Technology (UMIT TIROL), Tirol, Austria

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Monique M B Breteler Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany
Institute for Medical Biometry, Informatics and Epidemiology (IMBIE), Faculty of Medicine, University of Bonn, Bonn, Germany

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N Ahmad Aziz Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany
Department of Neurology, Faculty of Medicine, University of Bonn, Bonn, Germany

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Introduction Maintaining muscle function throughout life is critical for healthy ageing ( 1 ). Progressive loss of muscle mass and function with age is a feature of primary sarcopenia and negatively affects mobility, functional independence

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-22-0501
Volume/Issue:
Volume 12: Issue 4
Open access
Elena Galazzi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Paolo Duminuco IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Mirella Moro IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Fabiana Guizzardi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Nicoletta Marazzi IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy

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Alessandro Sartorio IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy
Division of Auxology and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piancavallo (VB), Italy

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Sabrina Avignone Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, U.O.C Neuroradiologia, Milan, Italy

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Marco Bonomi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Luca Persani IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Maria Teresa Bonati IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy

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performed by targeted next-generation sequencing (NGS) on an Illumina MiSeq sequencer (Illumina) following previously reported methods ( 13 ) and using a gene panel which includes known causal genes for IHH and hypopituitarism: CHD7 , NR0B1 , DUSP6

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0486
Volume/Issue:
Volume 7: Issue 12
Open access
Renea A Taylor Department of Physiology, Cancer Program and Obesity and Metabolic Disease Program, Biomedicine Discovery Institute, Monash University, Wellington Road, Victoria 3800, Australia

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Jennifer Lo Department of Physiology, Cancer Program and Obesity and Metabolic Disease Program, Biomedicine Discovery Institute, Monash University, Wellington Road, Victoria 3800, Australia

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Natasha Ascui Department of Physiology, Cancer Program and Obesity and Metabolic Disease Program, Biomedicine Discovery Institute, Monash University, Wellington Road, Victoria 3800, Australia

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Matthew J Watt Department of Physiology, Cancer Program and Obesity and Metabolic Disease Program, Biomedicine Discovery Institute, Monash University, Wellington Road, Victoria 3800, Australia

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–2011 data) (1) . This is in contrast to other more aggressive cancers that have significantly lower 5-year survival rates (e.g., 17.4 and 64.9% in lung and colorectal cancer respectively) (1) . Consequently, there are many men who live with prostate cancer

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-15-0080
Volume/Issue:
Volume 4: Issue 4
Open access
Carina Hasenoehrl Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria

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Gert Schwach Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria

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Nassim Ghaffari-Tabrizi-Wizsy Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria
SFL Chicken CAM Lab, Institute of Pathophysiology and Immunology, Medical University of Graz, Graz, Austria

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Robert Fuchs Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria

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Nadine Kretschmer Department of Pharmacognosy, Institute of Pharmaceutical Sciences, University of Graz, Graz, Austria

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Rudolf Bauer Department of Pharmacognosy, Institute of Pharmaceutical Sciences, University of Graz, Graz, Austria

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Roswitha Pfragner Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria

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Introduction Medullary thyroid carcinomas (MTC) arise from the parafollicular C-cells of the thyroid and account for 5–10% of all thyroid cancers ( 1 , 2 ). MTCs are calcitonin-producing tumors that occur sporadically in 70–80% of the cases

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-16-0105
Volume/Issue:
Volume 6: Issue 2
Open access
Emily Warmington Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK

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Gabrielle Smith Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK

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Vasileios Chortis Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK

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Raimunde Liang Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany
Department of Neurosurgery, Technical University Munich (TMU), Munich, Germany

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Juliane Lippert Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany

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Sonja Steinhauer Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany

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Laura-Sophie Landwehr Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany

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Constanze Hantel Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Zurich, Switzerland
Medizinische Klinik Und Poliklinik III, University Hospital Carl Gustav Carus, Dresden, Germany

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Katja Kiseljak-Vassiliades Division of Endocrinology Metabolism and Diabetes, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA

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Margaret E Wierman Division of Endocrinology Metabolism and Diabetes, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA

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Barbara Altieri Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany

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Paul A Foster Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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Cristina L Ronchi Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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also inhibits p53-dependent transcriptional activation and pro-apoptotic activity, and, in turn, p53 represses PLK1 expression itself ( Fig. 1 ) ( 13 ). Overexpression of PLK1 at gene level has been reported to be associated with worse clinical

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0403
Volume/Issue:
Volume 13: Issue 1
Open access
Benjamin G Challis Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK
IMED Biotech Unit, Clinical Discovery Unit, AstraZeneca, UK

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Andrew S Powlson Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Ruth T Casey Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Carla Pearson Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Brian Y Lam Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Marcella Ma Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Deborah Pitfield Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Giles S H Yeo Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK

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Edmund Godfrey Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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Heok K Cheow Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK
Department of Nuclear Medicine, Addenbrooke’s Hospital, Cambridge, UK

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V Krishna Chatterjee Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke’s Hospital, Cambridge, UK
Wolfson Diabetes and Endocrine Centre, Addenbrooke’s Hospital, Cambridge, UK

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Nicholas R Carroll Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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Ashley Shaw Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK

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John R Buscombe Department of Radiology, Addenbrooke’s Hospital, Cambridge, UK
Department of Nuclear Medicine, Addenbrooke’s Hospital, Cambridge, UK

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Helen L Simpson Department of Diabetes and Endocrinology, UCLH NHS Foundation Trust, London, UK

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DS Maitra A Schulick RD Tang LH Wolfgang CL Choti MA DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors . Science 2011 331 1199 – 1203 . 21252315 10.1126/science.1200609

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0076
Volume/Issue:
Volume 6: Issue 7
Open access
Andrea V Haas Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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Paul N Hopkins Cardiovascular Genetics, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA

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Nancy J Brown Vanderbilt University Medical Center, Nashville, Tennessee, USA

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Luminita H Pojoga Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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Jonathan S Williams Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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Gail K Adler Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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Gordon H Williams Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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mounting evidence that CV risk is heritable ( 20 ). Members of our group have previously shown that a prevalent caveolin-1 (CAV1) gene variant (rs926198) is related to cardiovascular risk (insulin resistance and the metabolic syndrome) ( 21 , 22 ). CAV1 is

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0182
Volume/Issue:
Volume 8: Issue 6
Open access
Qiuyu Huang Department of Cardiovascular Surgery, Union Hospital, Fujian Medical University, Fuzhou, Fujian Province, China
Key Laboratory of Cardio-Thoracic Surgery (Fujian Medical University), Fujian Province University, Fuzhou, Fujian Province, China

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Hanshen Chen Department of Anesthesiology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian Province, China

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Fan Xu Department of Cardiovascular Surgery, Union Hospital, Fujian Medical University, Fuzhou, Fujian Province, China
Key Laboratory of Cardio-Thoracic Surgery (Fujian Medical University), Fujian Province University, Fuzhou, Fujian Province, China

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Chao Liu Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu University, Zhenjiang, Jiangsu Province, China

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Yafeng Wang Department of Cardiology, The People’s Hospital of Xishuangbanna Dai Autonomous Prefecture, Jinghong, Yunnan Province, China

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Weifeng Tang Department of Cardiothoracic Surgery, Nanjing Drum Tower Hospital, Nanjing University Medical School, Jiangsu Province, China

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Liangwan Chen Department of Cardiovascular Surgery, Union Hospital, Fujian Medical University, Fuzhou, Fujian Province, China
Key Laboratory of Cardio-Thoracic Surgery (Fujian Medical University), Fujian Province University, Fuzhou, Fujian Province, China

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J Zhang R Tang J Yang T Zou Y He J Xia H Functional polymorphisms at ERCC1/XPF genes confer neuroblastoma risk in Chinese children . EBiomedicine 2018 30 113 – 119 . ( https://doi.org/10.1016/j.ebiom.2018.03.003 )

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0261
Volume/Issue:
Volume 10: Issue 11
Open access