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Athanasios Zervas Endocrine Unit, Athens Medical Centre, Athens, Greece

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George Chrousos Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University Research Institute of Maternal and Child Health and Precision Medicine, and UNESCO Chair on Adolescent Health Care, National and Kapodistrian University of Athens, Athens, Greece
National and Kapodistrian University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece

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Sarantis Livadas Endocrine Unit, Athens Medical Centre, Athens, Greece

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’ denotes any modification of gene expression which cannot be attributed to changes in DNA sequence. PHP per se constitutes an epigenetic disease, since it is inherited in an autosomal dominant manner and, interestingly, the complete form (multihormone

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0615
Volume/Issue:
Volume 10: Issue 5
Open access
R Solomon-Zemler Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

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L Basel-Vanagaite Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel
Felsenstein Medical Research Center, Petach Tikva, Israel
Pediatric Genetics, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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D Steier Day Hospitalization Department, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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S Yakar David B. Kriser Dental Center, Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, New York, USA

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E Mel Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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M Phillip Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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L Bazak Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel

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D Bercovich Tel-Hai College, Tel-Hai, Israel

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H Werner Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Shalom and VardaYoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv, Israel

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L de Vries Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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immunometric assay (Immulite 2000; Siemens). Plasma IGF-1 was determined using a one-step sandwich chemiluminescence immunoassay (DiaSorin, Saluggia, Italy). Blood samples were collected for DNA extraction. Skin biopsies from the proband and his mother as well

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0038
Volume/Issue:
Volume 6: Issue 6
Open access
Simon Chang Unit for Thrombosis Research, Institute of Regional Health Research, University of Southern Denmark and Department of Clinical Biochemistry, Hospital of South West Denmark, Esbjerg, Denmark
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus N, Denmark

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Christian Fynbo Christiansen Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus N, Denmark

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Anders Bojesen Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark

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Svend Juul Department of Public Health, Aarhus University, Aarhus C, Denmark

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Anna-Marie B Münster Unit for Thrombosis Research, Institute of Regional Health Research, University of Southern Denmark and Department of Clinical Biochemistry, Hospital of South West Denmark, Esbjerg, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus N, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark

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Frohlich H Oldenburg J , et al . DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations . Clinical Epigenetics 2015 76 . ( https://doi.org/10.1186/s13148-015-0112-2 ) 34

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0433
Volume/Issue:
Volume 9: Issue 1
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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, and solid tumors ( 1 , 2 , 3 ). FA is caused by germline pathogenic variants in the FA/BRCA DNA repair pathway associated with BMF at an early age (median age 7 years) and cancer during young adulthood (median age early 30s) ( 4 , 5 , 6 , 7

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0510
Volume/Issue:
Volume 13: Issue 9
Open access
Angelica Amorim Amato Department of Pharmaceutical Sciences, University of Brasilia, Brasilia, Brazil
Department of Developmental and Cell Biology, University of California, Irvine, California, USA

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Hailey Brit Wheeler Department of Developmental and Cell Biology, University of California, Irvine, California, USA

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Bruce Blumberg Department of Developmental and Cell Biology, University of California, Irvine, California, USA
Department of Pharmaceutical Sciences, University of California, Irvine, California, USA
Department of Biomedical Engineering, University of California, Irvine, California, USA

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. Instead, large regions of DNA where methylation was all in the same direction were identified. These iso-directional differentially methylated blocks were denoted as isoDMBs ( 102 ). It was hypothesized that the transgenerational phenotype was carried

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0578
Volume/Issue:
Volume 10: Issue 2
Open access
Liza Das Department of Endocrinology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh, India

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Kim Vaiphei Department of Histopathology, PGIMER, Chandigarh, India

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Ashutosh Rai Department of Translational and Regenerative Medicine, PGIMER, Chandigarh, India

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Chirag Kamal Ahuja Department of Radiology, PGIMER, Chandigarh, India

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Paramjeet Singh Department of Radiology, PGIMER, Chandigarh, India

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Ishani Mohapatra Department of Pathology and Laboratory Medicine, Medanta, The Medicity, Gurgaon, India

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Rajesh Chhabra Department of Neurosurgery, PGIMER, Chandigarh, India

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Anil Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh, India

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Bishan Dass Radotra Department of Histopathology, PGIMER, Chandigarh, India

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Ashley B Grossman Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK
Green Templeton College, University of Oxford, Oxford, UK

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Márta Korbonits Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK

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Pinaki Dutta Department of Endocrinology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh, India

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b013e31829723e7 ) 14 Capper D Jones DTW Sill M Hovestadt V Schrimpf D Sturm D Koelsche C Sahm F Chavez L Reuss DE DNA methylation-based classification of central nervous system tumours . Nature 2018 555 469 – 474

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0621
Volume/Issue:
Volume 10: Issue 4
Open access
Christian Høst Department of Endocrinology and Internal Medicine and the Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Aarhus N, Denmark
Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark

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Anders Bojesen Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark

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Mogens Erlandsen Section for Biostatistics, Department of Public Health, Aarhus University, Aarhus C, Denmark

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Kristian A Groth Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark

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Kurt Kristensen Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark

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Anne Grethe Jurik Department of Radiology, Aarhus University Hospital, Aarhus N, Denmark

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Niels H Birkebæk Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine and the Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Aarhus N, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark

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resistance in KS ( 19 ). Recently, we found profound changes in the methylation and RNA expression pattern throughout the genome among males with KS and enrichment analyses showed that the observed methylation changes was related to development of diabetes

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0323
Volume/Issue:
Volume 8: Issue 9
Open access
André Marques-Pinto Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Davide Carvalho Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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gametogenesis and foetal development (see below). The epigenome refers to changes made in gene expression by altering DNA structure through DNA methylation and microRNA, among other mechanisms, without changing the actual genomic sequence (80) . BPA, phthalates

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-13-0036
Volume/Issue:
Volume 2: Issue 3
Open access
K E Lines
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R P Vas Nunes
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M Frost Academic Endocrine Unit, OCDEM, University of Oxford, Churchill Hospital, Oxford, UK

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C J Yates Academic Endocrine Unit, OCDEM, University of Oxford, Churchill Hospital, Oxford, UK

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M Stevenson Academic Endocrine Unit, OCDEM, University of Oxford, Churchill Hospital, Oxford, UK

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R V Thakker Academic Endocrine Unit, OCDEM, University of Oxford, Churchill Hospital, Oxford, UK

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leukaemia protein 1 (MLL1) to regulate histone methylation ( 5 , 11 ), to inhibit cell cycle progression through interaction with cyclin-dependent kinase inhibitors ( 12 ) and to promote apoptosis through interaction with caspase 8 ( 13 ). To facilitate

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0040
Volume/Issue:
Volume 6: Issue 4
Open access
Konstantin Yakimchuk Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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Chandrashekar Bangalore Revanna Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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Dan Huang Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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Jose Inzunza Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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Sam Okret Department of Biosciences and Nutrition Karolinska Institutet, Neo, Huddinge, Sweden

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prostate cancer via reducing its promoter methylation . Journal of Steroid Biochemistry and Molecular Biology 2015 152 62 – 75 . ( https://doi.org/10.1016/j.jsbmb.2015.04.018 ) 29 Yakimchuk K Iravani M Hasni MS Rhonnstad P Nilsson S Jondal M Okret

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0459
Volume/Issue:
Volume 7: Issue 12
Open access