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Laure Cazabat Endocrinology Department, Ambroise Paré University Hospital, AP-HP, Boulogne, France
Inserm U1173, Université Versailles-Saint-Quentin, Montigny-Le-Bretonneux, France

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Aglae  Terray Endocrinology Department, Ambroise Paré University Hospital, AP-HP, Boulogne, France

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Philippe de Mazancourt UMR U1179, U1173, Université Versailles-Saint-Quentin, Montigny-Le-Bretonneux, France

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Jacques  Ropers Clinical Research Unit, Ambroise Paré University Hospital, AP-HP, Boulogne, France

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Lionel Groussin Department of Endocrinology, Cochin University Hospital, AP-HP, Paris, France
UMR 8104, Institut Cochin, Paris, France

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Marie-Laure Raffin-Sanson Endocrinology Department, Ambroise Paré University Hospital, AP-HP, Boulogne, France
Inserm U1173, Université Versailles-Saint-Quentin, Montigny-Le-Bretonneux, France

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line variant (rs7080536, responsible for a p.G534E substitution) in HABP2 (en coding hyaluronan-binding protein, also named factor VII-activating protease) associated with papillary thyroid cancer (PTC) in a large kindred: PTC in 6 patients and

Article Type:
Letter
DOI:
https://doi.org/10.1159/000477492
Volume/Issue:
Volume 6: Issue 4
Free access
Dorothée Bouron-Dal Soglio Department of Pathology, CHU Sainte-Justine, Montreal, Québec, Canada

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Leanne de Kock The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada

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Richard Gauci Nuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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Nelly Sabbaghian The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada

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Elizabeth Thomas Nuclear Medicine, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia
Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia

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Helen C. Atkinson Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia

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Nicholas Pachter Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia
King Edward Memorial Hospital, Perth, Washington, Australia

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Simon Ryan Department of General Surgery, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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John P. Walsh Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Washington, Australia

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M. Priyanthi Kumarasinghe PathWest, QEII Medical Centre, Perth, Washington, Australia

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Karen Carpenter Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Washington, Australia

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Ayça Aydoğan Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey

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Colin J.R. Stewart King Edward Memorial Hospital, Perth, Washington, Australia

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William D. Foulkes The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Québec, Canada
Department of Human Genetics, McGill University, Montreal, Québec, Canada
Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada

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Catherine S. Choong Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Washington, Australia
Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, Washington, Australia

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described DICER1 syndrome is caused by germ-line loss of function mutations in DICER1 [ 17 ] and is inherited in an autosomal dominant fashion. DICER1 is a member of the ribonuclease III (RNase III) family of proteins and cleaves non-coding small RNA

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000481620
Volume/Issue:
Volume 7: Issue 1
Free access
Vincenza Leone Istituto di Endocrinologia ed Oncologia Sperimentale-CNR, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Scuola di Medicina e Chirurgia di Napoli, Università degli Studi di Napoli ‘Federico II', Naples, Italy

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Concetta Langella Istituto di Endocrinologia ed Oncologia Sperimentale-CNR, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Scuola di Medicina e Chirurgia di Napoli, Università degli Studi di Napoli ‘Federico II', Naples, Italy

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Francesco Esposito Istituto di Endocrinologia ed Oncologia Sperimentale-CNR, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Scuola di Medicina e Chirurgia di Napoli, Università degli Studi di Napoli ‘Federico II', Naples, Italy

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Marco De Martino Istituto di Endocrinologia ed Oncologia Sperimentale-CNR, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Scuola di Medicina e Chirurgia di Napoli, Università degli Studi di Napoli ‘Federico II', Naples, Italy

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Myriam Decaussin-Petrucci Department of Pathology, Lyon Sud Hospital Center, Hospices Civils de Lyon, Lyon, France

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Gennaro Chiappetta Istituto Nazionale per lo Studio e la Cura dei Tumori ‘Fondazione Giovanni Pascale', IRCCS, Naples, Italy

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Antonio Bianco Dipartimento di Sanità Pubblica, Università di Napoli Federico II, Naples, Italy

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Alfredo Fusco Istituto di Endocrinologia ed Oncologia Sperimentale-CNR, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Scuola di Medicina e Chirurgia di Napoli, Università degli Studi di Napoli ‘Federico II', Naples, Italy
Instituto Nacional de Cancer (INCA), Rio de Janeiro, Brazil

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, Slack FJ: Small non-coding RNAs in animal development. Nat Rev Mol Cell Biol 2008;9:219-230. 10.1038/nrm2347 18270516 10 Leone V, D'Angelo D, Ferraro A, Pallante P, Rubio I, Santoro M, Croce CM, Fusco A: A TSH-CREB1-microRNA loop is required for

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000441355
Volume/Issue:
Volume 4: Issue 4
Free access
Sule Canberk Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Abel Salazar Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal

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Joana C. Ferreira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Luísa Pereira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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Rui Batısta Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Andre F. Vieira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Paula Soares Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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Manuel Sobrinho Simões Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal
Abel Salazar Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal
Department of Pathology and Oncology, Centro Hospitalar São João, Porto, Portugal

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Valdemar Máximo Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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). DICER1 is a member of the RNAse III family that plays a key role in the biogenesis involved in the processing of small non-coding RNAs (microRNAs), potentially affecting gene regulation at the post-transcriptional level. Since the first report in 2001

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000509183
Volume/Issue:
Volume 9: Issue 6
Free access
Emilie Brûlé Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada

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Xiang Zhou Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada

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Ying Wang Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada

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Evan R S Buddle Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada

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Luisina Ongaro Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada

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Mary Loka Integrated Program in Neuroscience, McGill University, Montreal, Quebec, Canada

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Anita Boelen Endocrine Laboratory, Department of Laboratory Medicine, University of Amsterdam, Amsterdam Gastroenterology, Endocrinology & Metabolism Research Institute, Amsterdam, The Netherlands

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Daniel J Bernard Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada
Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada
Integrated Program in Neuroscience, McGill University, Montreal, Quebec, Canada

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mice We generated Irs4 knockout mice using CRISPR-Cas9 and a guide RNA directed at the 5’ end of the coding sequence, in the part of the gene encoding the pleckstrin homology domain ( Fig. 1A ). We developed two strains from a single founder female

Article Type:
Research Article
Collections:
Hypothalamus-pituitary-thyroid axis
DOI:
https://doi.org/10.1530/ETJ-23-0054
Volume/Issue:
Volume 13: Issue 1
Open access
Mohammad-Reza Mahmoudian-sani Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
Department of Genetics and Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran

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Ameneh Mehri-Ghahfarrokhi Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

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Majid Asadi-Samani Student Research Committee, Shahrekord University of Medical Sciences, Shahrekord, Iran

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Gholam-Reza Mobini Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran

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, Lloyd RV: Non-coding RNAs in thyroid cancer. Endocr Pathol 2016;27: 12–20. 10.1007/s12022-016-9417-8 26847830 29 Wang X-Z, Hang Y-K, Liu J-B, Hou Y-Q, Wang N, Wang M-J: Over-expression of microRNA-375 inhibits papillary thyroid carcinoma cell

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000468520
Volume/Issue:
Volume 6: Issue 4
Free access
Rob Janssen Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands

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Alice Muller Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands

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Warner S. Simonides Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands

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-like gene 1 (RTL1), as well as the non-coding RNA sequences Gtl2 (MEG3), Rian (MEG8), MIRG, and numerous miRNAs [ 62 ]. Activation of the DLK1-DIO3 region is an aspect of increased pluripotency and proliferative activity in stem cells and various tumors [ 63

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000469708
Volume/Issue:
Volume 6: Issue 3
Open access
Jacopo Manso Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy
Department of Women’s and Children’s Health, Pediatric Endocrinology Unit, Padua University Hospital, Padua, Italy

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Simona Censi Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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Cristina Clausi Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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Ilaria Piva Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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Yi Hang Zhu Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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Alberto Mondin Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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Maria Chiara Pedron Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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Susi Barollo Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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Loris Bertazza Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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Giulia Midena Department of Molecular Medicine, University of Padua, Padua, Italy

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Raffaele Parrozzani Department of Ophthalmology, University of Padua, Padua, Italy

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Caterina Mian Department of Medicine (DIMED), Endocrinology Unit, University of Padua, Padua, Italy

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small, single-stranded, non-coding RNAs that play a role in regulating biological processes by inhibiting gene expression at the post-transcriptional level. They have emerged as crucial modulators of immunity and cellular processes ( 12 ). Only a few

Article Type:
Research Article
Collections:
Thyroid autoimmunity
DOI:
https://doi.org/10.1530/ETJ-23-0083
Volume/Issue:
Volume 12: Issue 5
Open access
Robert Opitz Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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Francesco Antonica Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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Sabine Costagliola Institute of Interdisciplinary Research in Molecular Human Biology, Université Libre de Bruxelles, Brussels, Belgium

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transgenic thyroid reporter lines. a Schematic illustration of Tol2 transgenesis. Capped transposase RNA is generated by in vitro transcription and a transposon donor vector containing an expression construct flanked by two Tol2 sites (red blocks) is

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000357079
Volume/Issue:
Volume 2: Issue 4
Free access
Tiziana de Filippis Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Federica Marelli Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Maria Cristina Vigone Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Marianna Di Frenna Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Giovanna Weber Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Luca Persani Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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congenital or early postnatal onset and identified two novel heterozygous NKX2-1 frameshift mutations that were associated with typical neurological manifestations, absent pulmonary involvement and atypical thyroid phenotypes, such as lingual ectopy or non

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000366274
Volume/Issue:
Volume 3: Issue 4
Free access