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Jairo Arturo Pinzón-Cortés Biological Sciences Department, Laboratory of Human Genetics, Universidad de los Andes, Bogotá, Colombia
School of Medicine, Universidad de los Andes, Bogotá, Colombia

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Angelina Perna-Chaux Biological Sciences Department, Laboratory of Human Genetics, Universidad de los Andes, Bogotá, Colombia

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Nicolás Steven Rojas-Villamizar Biological Sciences Department, Laboratory of Human Genetics, Universidad de los Andes, Bogotá, Colombia

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Angélica Díaz-Basabe Biological Sciences Department, Laboratory of Human Genetics, Universidad de los Andes, Bogotá, Colombia

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Diana Carolina Polanía-Villanueva Biological Sciences Department, Laboratory of Human Genetics, Universidad de los Andes, Bogotá, Colombia

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María Fernanda Jácome Biological Sciences Department, Laboratory of Human Genetics, Universidad de los Andes, Bogotá, Colombia

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Carlos Olimpo Mendivil School of Medicine, Universidad de los Andes, Bogotá, Colombia
Endocrinology Section, Hospital Universitario Fundación Santa Fe de Bogotá, Bogotá, Colombia

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Helena Groot Biological Sciences Department, Laboratory of Human Genetics, Universidad de los Andes, Bogotá, Colombia
School of Medicine, Universidad de los Andes, Bogotá, Colombia

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Valeriano López-Segura Biological Sciences Department, Laboratory of Human Genetics, Universidad de los Andes, Bogotá, Colombia
School of Medicine, Universidad de los Andes, Bogotá, Colombia

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carry epigenetic changes that persist for many years and predispose them to developing complications ( 9 , 11 , 12 , 13 ). Several studies in patients with T2DM have found changes in the genome methylation profile, such as a reduced level of DNA

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0199
Volume/Issue:
Volume 6: Issue 8
Open access
A H Ludwig-Slomczynska Center for Medical Genomics OMICRON, Jagiellonian University Medical College, Krakow, Poland

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S Borys Department of Metabolic Diseases, Jagiellonian University Medical College
University Hospital, Krakow, Poland

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M T Seweryn Center for Medical Genomics OMICRON, Jagiellonian University Medical College, Krakow, Poland

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J Hohendorff Department of Metabolic Diseases, Jagiellonian University Medical College
University Hospital, Krakow, Poland

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P Kapusta Center for Medical Genomics OMICRON, Jagiellonian University Medical College, Krakow, Poland

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B Kiec-Wilk Department of Metabolic Diseases, Jagiellonian University Medical College
University Hospital, Krakow, Poland

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E Pitera Center for Medical Genomics OMICRON, Jagiellonian University Medical College, Krakow, Poland

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P P Wolkow Center for Medical Genomics OMICRON, Jagiellonian University Medical College, Krakow, Poland

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M T Malecki Department of Metabolic Diseases, Jagiellonian University Medical College
University Hospital, Krakow, Poland

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key regulatory mechanism of gene expression. In this study, we performed a genome-wide DNA analysis to compare the effect of NPWT versus standard therapy on the methylation profile in the wound bed of patients with type 2 diabetes (T2DM) and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0373
Volume/Issue:
Volume 8: Issue 11
Open access
Ya-Fen Hu Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China
Department of Endocrinology, The People’s Hospital of Daxing District, Beijing, China

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Lin Hua Department of Mathematics, School of Biomedical Engineering, Capital Medical University, Beijing, China

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Xiu Tuo Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China

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Ting-Ting Shi Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China

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Yi-Lin Yang Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China

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Yun-Fu Liu Department of Radiology, Beijing Tongren Hospital, Capital Medical University, Beijing, China

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Zhong-Yu Yan Department of Radiology, Beijing Tongren Hospital, Capital Medical University, Beijing, China

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Zhong Xin Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing, China

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(DNMTs). The base sequence of the DNA after methylation is not changed, but the expression of the gene is affected. Conversely, epigenetic modifications are reversible and could be the targets for drug intervention. Although some potential genes

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0147
Volume/Issue:
Volume 9: Issue 7
Open access
Anne Jouinot Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Juliane Lippert Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Martin Fassnacht Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Comprehensive Cancer Center Mainfranken, University of Wuerzburg, Wuerzburg, Germany

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Bruno de La Villeon Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Amandine Septier Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Mario Neou Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Karine Perlemoine Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Silke Appenzeller Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Mathilde Sibony Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Pathology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Sébastien Gaujoux Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Bertrand Dousset Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Rossella Libe Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Lionel Groussin Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Cristina L Ronchi Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
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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Guillaume Assié Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Jérôme Bertherat Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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mutations, chromosome alteration and DNA methylation profile, or at the RNA level, including transcriptome and targeted gene expression profiles. Intratumor heterogeneity of somatic mutations has been reported in many cancer types ( 12 , 13 , 14 ). In a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0228
Volume/Issue:
Volume 9: Issue 7
Open access
Kristian Almstrup Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Hanne Frederiksen Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anna-Maria Andersson Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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epigenetic studies. We have previously published one of the first studies demonstrating changes in DNA methylation patterns with the onset of puberty in healthy children ( 12 ) and identified the promotor of the thyroid hormone receptor interactor 6 gene

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0286
Volume/Issue:
Volume 9: Issue 8
Open access
Jessica S Jarmasz Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada

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Yan Jin Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada

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Hana Vakili Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

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Peter A Cattini Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada

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chromatin that influence gene expression ( 23 ). The methylation of cytosine paired with a guanine (CpG) termed ‘DNA methylation’ is one of the many epigenetic mechanisms that govern gene expression where appro­ximately 70–80% of CpG dinucleotides are

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0354
Volume/Issue:
Volume 9: Issue 12
Open access
Elham Barazeghi Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, Rudbeck Laboratory, Uppsala, Sweden

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Per Hellman Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, Rudbeck Laboratory, Uppsala, Sweden

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Gunnar Westin Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, Rudbeck Laboratory, Uppsala, Sweden

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Peter Stålberg Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, Rudbeck Laboratory, Uppsala, Sweden

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tumors ( 4 ). Promoter DNA methylation studies revealed increased RASSF1A / CTNNB1 methylation associated with metastatic progression, and epigenetic repression of TCEB3C in SI-NETs ( 5 , 6 ). A comprehensive integrated molecular analysis of a large

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0279
Volume/Issue:
Volume 8: Issue 8
Open access
Djeda Belharazem Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Matthias Kirchner Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany
Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Franziska Geissler Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Peter Bugert Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Martin Spahn Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Burkhard Kneitz Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Hubertus Riedmiller Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Christian Sauer Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Stefan Küffer Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Lutz Trojan Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Christian Bolenz Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Maurice Stephan Michel Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Alexander Marx Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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Philipp Ströbel Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany
Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

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different between controls and RPE patients ( P =0.06). Bisulfite treatment DNA methylation analyses, starting with 1–2 μg DNA, were carried out using bisulfite treatment and subsequent sequencing as described previously (26) . For PCR amplification of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-12-0054
Volume/Issue:
Volume 1: Issue 2
Open access
Roberto Cosimo Melcangi Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy

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Livio Casarini Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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Marco Marino Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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Daniele Santi Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Department of Medical Specialties, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy

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Samantha Sperduti Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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Silvia Giatti Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy

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Silvia Diviccaro Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy

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Maria Grimoldi Neurology Division, Papa Giovanni XXIII Hospital, Bergamo, Italy

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Donatella Caruso Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy

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Guido Cavaletti Experimental Neurology Unit and Milan Center for Neuroscience, School of Medicine and Surgery, University of Milano Bicocca, Monza, Italy

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Manuela Simoni Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy
Department of Medical Specialties, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy

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levels of these genes in a clinical setting. We compared SRD5A1 and/or SRD5A2 promoter methylation in DNA samples obtained from blood and/or CSF in PFS patients and controls and correlated the resulting epigenetic pattern with the neuroactive steroid

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0199
Volume/Issue:
Volume 8: Issue 8
Open access
Erika Urbano Lima Biological Science Department, Thyroid Molecular Sciences Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil
Structural and Functional Biology Program, Universidade Federal de São Paulo, São Paulo, Brazil

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Ileana G S Rubio Biological Science Department, Thyroid Molecular Sciences Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil
Structural and Functional Biology Program, Universidade Federal de São Paulo, São Paulo, Brazil

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Joaquim Custodio Da Silva Department of Bio-regulation, Thyroid Study Laboratory, Health & Science Institute, Federal University of Bahia, Salvador, Brazil
Post-graduate Program in Interactive Processes of Organs and Systems, Health & Science Institute, Federal University of Bahia, Salvador, Brazil

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Ana Luiza Galrão Biological Science Department, Thyroid Molecular Sciences Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Danielle Pêssoa Department of Bio-regulation, Thyroid Study Laboratory, Health & Science Institute, Federal University of Bahia, Salvador, Brazil
Post-graduate Program in Interactive Processes of Organs and Systems, Health & Science Institute, Federal University of Bahia, Salvador, Brazil

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Taise Cerqueira Oliveira Department of Bio-regulation, Thyroid Study Laboratory, Health & Science Institute, Federal University of Bahia, Salvador, Brazil

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Fabiane Carrijo Department of Bio-regulation, Thyroid Study Laboratory, Health & Science Institute, Federal University of Bahia, Salvador, Brazil
Post-graduate Program in Interactive Processes of Organs and Systems, Health & Science Institute, Federal University of Bahia, Salvador, Brazil

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Igor Silva Campos Department of Pathology, Sao Rafael Hospital, Salvador, Brazil

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Luciano Fonseca Espinheira Department of Pathology, Sao Rafael Hospital, Salvador, Brazil
Department of Anatomic Pathology & Legal Medicine, Bahia Federal Medical School, Federal University of Bahia, Salvador, Brazil

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Luiz Jose Sampaio Nuclear Medicine Department, Sao Rafael Hospital, Salvador, Brazil

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Claudio Rogerio Lima Head and Neck Surgery Department, Sao Rafael Hospital, Salvador, Brazil

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Janete Maria Cerutti Structural and Functional Biology Program, Universidade Federal de São Paulo, São Paulo, Brazil
Division of Genetics, Department of Morphology and Genetics, Genetic Basis of Thyroid Tumors Laboratory, Paulista School of Medicine, Universidade Federal de São Paulo, São Paulo, Brazil

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Helton Estrela Ramos Department of Bio-regulation, Thyroid Study Laboratory, Health & Science Institute, Federal University of Bahia, Salvador, Brazil
Post-graduate Program in Interactive Processes of Organs and Systems, Health & Science Institute, Federal University of Bahia, Salvador, Brazil

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affected by a growing number of DNA alterations in tumor-suppressor genes, especially via gene promoter methylation ( 4 ) causing a silencing of tumor-suppressor genes that are linked to apoptosis or DNA repair ( 5 , 6 ). A better understanding of such

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0380
Volume/Issue:
Volume 7: Issue 12
Open access