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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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receptor (VDR). A heterodimer, formed with retinoid X receptor (RXR), then binds specific genomic sequences (vitamin D response elements or VDREs) acting to influence gene transcription ( 13 ). VDREs have been found in several hundred genes that are

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0194
Volume/Issue:
Volume 8: Issue 7
Open access
Catherine Cardot Bauters CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Emmanuelle Leteurtre Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France

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Bruno Carnaille CHU Lille, Service de Chirurgie Endocrine, Hôpital Claude Huriez, Lille, France

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Christine Do Cao CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Stéphanie Espiard CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France

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Malo Penven CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Evelyne Destailleur CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Isabelle Szuster CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Tonio Lovecchio CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Julie Leclerc Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Fredéric Frénois Univ. Lille, CHU Lille, EA-7364 RADEME, Faculté de Médecine, Lille, France

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Emmanuel Esquivel Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

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Patricia L M Dahia Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

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Emilie Ait-Yahya CHU Lille, Institut de Biochimie & Biologie Moléculaire, Centre de Biologie Pathologie Génétique, Lille, France

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Michel Crépin CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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Pascal Pigny CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France

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). Thus, the KIF1Bβ neuronal pro-apoptotic effect combined with the mapping of KIF1B on chromosome 1p36, a region frequently deleted in PCC and NB ( 5 ), suggested that KIF1B might function as a tumor suppressor gene (TSG) in these diseases ( 3

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0460
Volume/Issue:
Volume 9: Issue 10
Open access
Susanna Cirera
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Sophia G Moesgaard Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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Nora E Zois Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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Nathja Ravn Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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Jens P Goetze Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark
Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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Signe E Cremer Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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Tom Teerlink Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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Páll S Leifsson Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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Jesper L Honge Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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J Michael Hasenkam Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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Lisbeth H Olsen Department of Veterinary Clinical and Animal Sciences, Novo Nordisk A/S, Department of Clinical Biochemistry, Department of Cardiothoracic and Vascular Surgery, Department of Clinical Biochemistry, Department of Veterinary Disease Biology, Department of Clinical Chemistry, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark

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undergo MV surgery every year (2) . Still, the pathophysiology of MMVD is incompletely understood and further elucidation of the mechanisms involved herein is needed to improve diagnostics and therapy. It is unclear what initiates the degenerative

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0051
Volume/Issue:
Volume 2: Issue 3
Open access
Anna Malczewska Department of Endocrinology and Neuroendocrine Tumours, Medical University of Silesia, Katowice, Poland

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Kjell Oberg Department of Endocrine Oncology, University Hospital, Uppsala, Sweden

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Beata Kos-Kudla Department of Endocrinology and Neuroendocrine Tumours, Medical University of Silesia, Katowice, Poland

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14 specific ‘omic clusters’ that are defined by 51 separate genes. This measurement captures the biology of an individual neuroendocrine tumour (NET) and defines the evolution of the tumour and the effect of therapy on it ( 21 ). Numerous clinical

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0417
Volume/Issue:
Volume 10: Issue 1
Open access
Dmitry M Davydov Laboratory of Neuroimmunopathology, Institute of General Pathology and Pathophysiology, Russian Academy of Medical Sciences, Moscow, Russia

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Malik K Nurbekov Laboratory of Sociogenomics, Moscow State Pedagogical University, Moscow, Russia

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Introduction Despite the known limitations of diagnostic criteria and early risk for type 2 diabetes derived from fasting (FPG) and/or 2-h plasma glucose levels, they are still widely accepted. Glycated hemoglobin A1 or the percentage of total

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-16-0009
Volume/Issue:
Volume 5: Issue 2
Open access
Weiwei He School of Medicine, Xiamen University, Xiamen, China
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China

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Caoxin Huang Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China

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Xiulin Shi Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
Department of Endocrinology and Diabetes, The First Affiliated Hospital of Xiamen University, Xiamen, China

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Menghua Wu School of Medicine, Xiamen University, Xiamen, China
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China

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Han Li School of Medicine, Xiamen University, Xiamen, China
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China

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Qiuhong Liu School of Medicine, Xiamen University, Xiamen, China
Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China

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Xiaofang Zhang Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China

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Yan Zhao Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China

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Xuejun Li Xiamen Diabetes Institute, The First Affiliated Hospital of Xiamen University, Xiamen, China
Fujian Provincial Key Laboratory of Translational Medicine for Diabetes, Xiamen, China
Department of Endocrinology and Diabetes, The First Affiliated Hospital of Xiamen University, Xiamen, China
Xiamen Clinical Medical Center for Endocrine and Metabolic Diseases, Xiamen Diabetes Prevention and Treatment Center, Xiamen, China

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development of NASH and the underlying key functional pathways. Materials and methods scRNA-seq data of NASH and healthy control liver tissues scRNA-seq data of NASH and healthy control liver tissues from Gene Expression Omnibus (GEO) were analyzed

Article Type:
Research Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-22-0502
Volume/Issue:
Volume 12: Issue 2
Open access
Masatada Watanabe Laboratory of Tissue Regeneration, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Shinagawa, Tokyo, Japan

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Shuji Ohno Division of Research for Pharmacy Students Education, Hoshi University, Shinagawa, Tokyo, Japan

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Hiroshi Wachi Laboratory of Tissue Regeneration, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Shinagawa, Tokyo, Japan

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-PCR, the LightCycler 480 system (Roche Diagnostics) and SsoFast Supermix (Bio-Rad). The primers used were as follows. For the gene transcript of human GAPDH, qhGAPDH-F (5′-TCCACTGGCGTCTTCACC-3′) and qhGAPDH-R (5′-GGCAGAGATGATGACCCTTTT-3′) were used. For the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-16-0099
Volume/Issue:
Volume 6: Issue 2
Open access
Sumana Chatterjee Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK

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Emily Cottrell Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK

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Stephen J Rose Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

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Talat Mushtaq The Leeds Teaching Hospital NHS Trust, Leeds, UK

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Avinaash V Maharaj Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK

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Jack Williams Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK

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Martin O Savage Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK

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Louise A Metherell Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK

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Helen L Storr Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK

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failure ( 1 , 2 ). Monogenic defects of the GH-IGF1 axis leading to GHI have been identified in the GHR ( 3 ), STAT5B ( 4 ), IGFALS ( 5 ), PAPPA2 ( 6 ) and IGF1 ( 7 ) genes. Splicing is the process by which introns are precisely identified and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0026
Volume/Issue:
Volume 9: Issue 3
Open access
Luis Eduardo Barbalho de Mello Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil
Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Thaise Nayane Ribeiro Carneiro Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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Aline Neves Araujo Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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Camila Xavier Alves Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Pedro Alexandre Favoretto Galante Centro de Oncologia Molecular, Hospital Sírio-libanês, São Paulo, São Paulo, Brazil

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Vanessa Candiotti Buzatto Centro de Oncologia Molecular, Hospital Sírio-libanês, São Paulo, São Paulo, Brazil

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Maria das Graças de Almeida Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil
Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil

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Karina Marques Vermeulen-Serpa Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Sancha Helena de Lima Vale Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil
Department of Nutrition, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Fernando José de Pinto Paiva Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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José Brandão-Neto Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

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Janete Maria Cerutti Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

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://doi.org/10.1038/srep16129 ) 56 Henn J Spier I Adam RS Holzapfel S Uhlhaas S Kayser K Plotz G Peters S Aretz S . Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes . Hereditary Cancer in

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-21-0406
Volume/Issue:
Volume 11: Issue 1
Open access
Alice Costantini Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden

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Mari H Muurinen Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland

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Outi Mäkitie Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

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B Carlston CM Gannon JL Kantarci S Krock BL Zhang S Bayrak-Toydemir P ACMG Laboratory Quality Assurance Committee. Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-21-0083
Volume/Issue:
Volume 10: Issue 5
Open access