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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
Emmi Naskali Department of Dermatology, Allergology and Venereology, University of Helsinki, and Helsinki University Central Hospital, Helsinki, Finland

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Katja Dettmer Institute of Functional Genomics, University of Regensburg, Regensburg, Germany

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Peter J Oefner Institute of Functional Genomics, University of Regensburg, Regensburg, Germany

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Pedro A B Pereira Institute of Biotechnology, DNA Sequencing and Genomics Laboratory, University of Helsinki, Helsinki, Finland

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Kai Krohn Clinical Research Institute HUCH Ltd, Biomedicum Helsinki 1, Helsinki, Finland

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Petri Auvinen Institute of Biotechnology, DNA Sequencing and Genomics Laboratory, University of Helsinki, Helsinki, Finland

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Annamari Ranki Department of Dermatology, Allergology and Venereology, University of Helsinki, and Helsinki University Central Hospital, Helsinki, Finland

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Nicolas Kluger Department of Dermatology, Allergology and Venereology, University of Helsinki, and Helsinki University Central Hospital, Helsinki, Finland

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-throughput sequencing reads . EMBnet.journal 2011 17 10 – 12 . ( https://doi.org/10.14806/ej.17.1.200 ) 10.14806/ej.17.1.200 20 Schloss PD Westcott SL Ryabin T Hall JR Hartmann M Hollister EB Lesniewski RA Oakley BB Parks DH Robinson CJ , et al . Introducing

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0513
Volume/Issue:
Volume 8: Issue 1
Open access
Mengting Yin Sichuan University West China Hospital, Chengdu, China

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Qianhui Liu Sichuan University West China Hospital, Chengdu, China

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Qingzhong Wang Jintang First People’s Hospital, West China Hospital Sichuan University Jingtang Hospital, Chengdu, China

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Yong He Sichuan University West China Hospital, Chengdu, China

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Haolan Song Sichuan University West China Hospital, Chengdu, China

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Xin Nie Sichuan University West China Hospital, Chengdu, China

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Guixing Li Sichuan University West China Hospital, Chengdu, China

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Introduction Primary hyperparathyroidism (PHPT) is a common endocrine disease caused by parathyroid dysfunction, with a prevalence of approximately 1/1000–7/1000 in the general population ( 1 ). Approximately 80% of PHPT cases are caused by a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0267
Volume/Issue:
Volume 10: Issue 11
Open access
Xiao-Ping Qi Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China

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Jian-Zhong Peng Department of Dermatology, Hangzhou Third People’s Hospital, Hangzhou, Zhejiang Province, China

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Xiao-Wei Yang Department of Pediatrics, The First People’s Hospital of Wenling City, Wenling, Zhejiang Province, China

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Zhi-Lie Cao Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China

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Xiu-Hua Yu Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China

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Xu-Dong Fang Department of Oncologic and Urologic Surgery, The 117th PLA Hospital, Wenzhou Medical University, Hangzhou, Zhejiang Province, China

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Da-Hong Zhang Department of Urologic Surgery, Zhejiang Provincial People’s Hospital, People’s Hospital of Hangzhou Medical College, Hangzhou, Zhejiang Province, China

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Jian-Qiang Zhao Department of Head and Neck Surgery, Zhejiang Cancer Hospital, Hangzhou, Zhejiang Province, China

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dermatomes T2–T6 ( 1 , 2 , 3 , 4 , 5 , 6 , 7 ). Reportedly, the following two germline mutations exist in intracellular tyrosine kinase domains: the RET V804M mutation within exon 14 in an American female with medullary thyroid carcinoma (MTC) and CLA

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0220
Volume/Issue:
Volume 7: Issue 9
Open access
Christos Tsatsanis Department of Clinical Chemistry, School of Medicine, University of Crete, Heraklion, Crete, Greece
Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Institute of Molecular Biology and Biotechnology, FORTH, Heraklion, Greece

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Angel Elenkov Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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Irene Leijonhufvud Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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Katerina Vaporidi Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden

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Åsa Tivesten Wallenberg Laboratory for Cardiovascular and Metabolic Research, Institute of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden

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Aleksander Giwercman Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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hormones in immune responses and inflammatory diseases has been well established. Women are more prone to autoimmune/autoinflammatory diseases than men ( 1 , 2 ). Several factors have been suggested as causes of the differences among men and women in

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0456
Volume/Issue:
Volume 12: Issue 3
Open access
Hoda Gad Department of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar

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Einas Elgassim Department of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar

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Ibrahim Mohammed Department of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar
Department of Internal Medicine, Albany Medical Center Hospital, Albany, New York, USA

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Ahmad Yaser Alhaddad Department of Mechanical and Industrial Engineering, Qatar University, Doha, Qatar

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Hussein Ahmed Hussein Zaky Aly KINDI Center for computing research, Qatar University, Doha, Qatar

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John-John Cabibihan Department of Mechanical and Industrial Engineering, Qatar University, Doha, Qatar

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Abdulaziz Al-Ali KINDI Center for computing research, Qatar University, Doha, Qatar

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Kishor Kumar Sadasivuni Center for Advanced Materials, Qatar University, Doha, Qatar

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Aliyaa Haji Department of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar

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Neila Lamine Department of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar

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Adnan Khan Faculty of Healthy Sciences, Khyber Medical University, Peshawar, Pakistan

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Ioannis N Petropoulos Department of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar

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Georgios Ponirakis Department of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar

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Alise Kalteniece Institute of Cardiovascular Medicine, University of Manchester, Manchester, UK

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Maryam Ferdousi Institute of Cardiovascular Medicine, University of Manchester, Manchester, UK

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Shazli Azmi Institute of Cardiovascular Medicine, University of Manchester, Manchester, UK

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Uazman Alam Diabetes and Neuropathy Research, Department of Eye and Vision Sciences and Pain Research Institute, Institute of Ageing and Chronic Disease, University of Liverpool and Aintree University Hospital NHS Foundation Trust, Liverpool, UK
Department of Diabetes and Endocrinology, Royal Liverpool and Broadgreen University NHS Hospital Trust, Liverpool, UK
Division of Endocrinology, Diabetes and Gastroenterology, University of Manchester, Manchester, UK

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Wajeeha Abuhelaiqa Hamad Medical Corporation, National Diabetes Center, Doha, Qatar

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Amin Jayyousi Hamad Medical Corporation, National Diabetes Center, Doha, Qatar

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Dabia AlMohanadi Hamad Medical Corporation, National Diabetes Center, Doha, Qatar

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Khaled Baagar Hamad Medical Corporation, National Diabetes Center, Doha, Qatar

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Rayaz A Malik Department of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar
Institute of Cardiovascular Medicine, University of Manchester, Manchester, UK

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Introduction Diabetic peripheral neuropathy (DPN) affects ~50% of people with diabetes mellitus (T1DM) and (T2DM) ( 1 , 2 ). It has an insidious onset, which can lead to painful diabetic neuropathy, erectile dysfunction, foot ulceration and

Article Type:
Research Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-22-0352
Volume/Issue:
Volume 11: Issue 12
Open access
Xiaoxia Jia Center for Metabolism and Immune Diseases, Beijing Luhe Hospital, Capital Medical University, Beijing, China
Beijing Key Laboratory of Diabetes Research and Care, Beijing, China

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Yaxin An Center for Metabolism and Immune Diseases, Beijing Luhe Hospital, Capital Medical University, Beijing, China
Beijing Key Laboratory of Diabetes Research and Care, Beijing, China

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Yuechao Xu Center for Metabolism and Immune Diseases, Beijing Luhe Hospital, Capital Medical University, Beijing, China
Beijing Key Laboratory of Diabetes Research and Care, Beijing, China

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Yuxian Yang Center for Metabolism and Immune Diseases, Beijing Luhe Hospital, Capital Medical University, Beijing, China
Beijing Key Laboratory of Diabetes Research and Care, Beijing, China

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Chang Liu Center for Metabolism and Immune Diseases, Beijing Luhe Hospital, Capital Medical University, Beijing, China
Beijing Key Laboratory of Diabetes Research and Care, Beijing, China

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Dong Zhao Center for Metabolism and Immune Diseases, Beijing Luhe Hospital, Capital Medical University, Beijing, China
Beijing Key Laboratory of Diabetes Research and Care, Beijing, China

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Jing Ke Center for Metabolism and Immune Diseases, Beijing Luhe Hospital, Capital Medical University, Beijing, China
Beijing Key Laboratory of Diabetes Research and Care, Beijing, China

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Introduction Osteoporosis and related fractures commonly exist in patients with type 2 diabetes mellitus (T2DM), which results in a great economic and social burden in the aging society ( 1 ). It has been reported that diabetes mellitus was an

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0449
Volume/Issue:
Volume 10: Issue 10
Open access
Jane Fletcher Nutrition Nurses, University Hospitals Birmingham NHS Trust, Queen Elizabeth Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, UK
School of Nursing, Institute of Clinical Sciences, University of Birmingham, Edgbaston, Birmingham, UK

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Emma L Bishop Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK

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Stephanie R Harrison Leeds Institute of Rheumatic and Musculoskeletal Medicine, Chapel Allerton Hospital, Leeds, UK

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Amelia Swift School of Nursing, Institute of Clinical Sciences, University of Birmingham, Edgbaston, Birmingham, UK

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Sheldon C Cooper Gastroenterology Department, University Hospitals Birmingham NHS Trust, Queen Elizabeth Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, UK

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Sarah K Dimeloe Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, UK

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Karim Raza Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK

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Martin Hewison Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK

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YT Cole S PD-L1- and calcitriol-dependent liposomal antigen-specific regulation of systemic inflammatory autoimmune disease . JCI Insight 2019 4 e126025. ( https://doi.org/10.1172/jci.insight.126025 ) 134 Zwerina K Baum W Axmann R Heiland

Article Type:
Review Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-21-0554
Volume/Issue:
Volume 11: Issue 3
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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of non-synonymous somatic mutations ( 2 , 26 , 27 ). This has important clinical relevance, suggesting that immunotherapies targeting checkpoint molecules, such as CTLA-4 or PD-1 are unlikely to yield significant clinical benefit in metastatic

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0076
Volume/Issue:
Volume 6: Issue 7
Open access
Ming Zhu Translational Medical Center for Stem Cell Therapy and Institute for Regenerative Medicine, Shanghai East Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai, China

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Bingxin Xu Translational Medical Center for Stem Cell Therapy and Institute for Regenerative Medicine, Shanghai East Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai, China

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Meng Wang Translational Medical Center for Stem Cell Therapy and Institute for Regenerative Medicine, Shanghai East Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai, China

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Shangyun Liu Translational Medical Center for Stem Cell Therapy and Institute for Regenerative Medicine, Shanghai East Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai, China

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Yue Zhang Translational Medical Center for Stem Cell Therapy and Institute for Regenerative Medicine, Shanghai East Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai, China

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Chao Zhang Translational Medical Center for Stem Cell Therapy and Institute for Regenerative Medicine, Shanghai East Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai, China

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Introduction The melanocortin receptors (MCRs) belong to α group of rhodopsin G-protein-coupled receptors. Mammalian MCRs consist of five subtypes, generally referred to as MC1R, MC2R, MC3R, MC4R and MC5R. A widely reported function of MC1R is

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0019
Volume/Issue:
Volume 8: Issue 4
Open access