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Sneha Arya Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Sandeep Kumar Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Anurag R Lila Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India

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Saba Samad Memon Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Rohit Barnabas Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Hemangini Thakkar Department of Radiology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Virendra A Patil Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Nalini S Shah Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Tushar R Bandgar Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Introduction Wilms’ tumor suppressor gene ( WT1 ), located on chromosome 11p13, encodes a zinc-finger protein. It contains ten exons and spans about 50 kb ( 1 ). Exons 1–6 encode a proline/glutamine-rich transcriptional-regulation region, and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0289
Volume/Issue:
Volume 10: Issue 12
Open access
Weixi Wang Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China

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Rulai Han Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China

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Lei Ye Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China

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Jing Xie Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China

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Bei Tao Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China

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Fukang Sun Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China

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Ran Zhuo Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China

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Xi Chen Department of General Surgery, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China

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Xiaxing Deng Pancreatic Disease Centre, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China

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Cong Ye Department of Thoracic Surgery, Shanghai Pulmonary Hospital, Tongji University, Shanghai, China

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Hongyan Zhao Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China

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Shu Wang Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China

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ACC tissue was obtained from patient IV:5 during surgery. The resected ACC tissue harbored homogenous frame-shift mutation of c.400_401insC in MEN1 gene ( Fig. 2A ). The resected ACC also showed LOH of chromosome 11q13, where MEN1 gene was located

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0526
Volume/Issue:
Volume 8: Issue 3
Open access
Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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among 6,012,798 neonatal screening tests ( 3 ). HSD3B2 gene is located on chromosome 1q13.1, and it encodes for the human type II (3b-HSD2) isoenzyme, which is only expressed in the adrenal cortex and in steroidogenic cells within the gonads. The

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0306
Volume/Issue:
Volume 7: Issue 3
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Carina Hasenoehrl Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria

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Gert Schwach Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria

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Nassim Ghaffari-Tabrizi-Wizsy Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria
SFL Chicken CAM Lab, Institute of Pathophysiology and Immunology, Medical University of Graz, Graz, Austria

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Robert Fuchs Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria

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Nadine Kretschmer Department of Pharmacognosy, Institute of Pharmaceutical Sciences, University of Graz, Graz, Austria

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Rudolf Bauer Department of Pharmacognosy, Institute of Pharmaceutical Sciences, University of Graz, Graz, Austria

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Roswitha Pfragner Institute of Pathophysiology and Immunology, Center of Molecular Medicine, Medical University of Graz, Graz, Austria

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LM Smith DP Healey CS Frilling A Raue F Neumann HP Pfragner R Behmel A Lorenzo MJ Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma . Genes, Chromosomes and Cancer 1995 12 209 – 212

Article Type:
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DOI:
https://doi.org/10.1530/EC-16-0105
Volume/Issue:
Volume 6: Issue 2
Open access
Henghai Huang Department of Urology, Department of Urology, Wuzhou GongRen Hospital, Wuzhou, China

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Qijian Ding Department of Urology, The First Affiliated Hospital of GuangXi Medical University, Nanning China

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Xiaocao Lin Department of Urology, Department of Urology, Wuzhou GongRen Hospital, Wuzhou, China

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Delin Li Department of Urology, Department of Urology, Wuzhou GongRen Hospital, Wuzhou, China

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Jingjing Zeng Department of Pathology, The First Affliated Hospital of GuangXi Medical University, Nanning, China

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Weijin Fu Department of Urology, The First Affiliated Hospital of GuangXi Medical University, Nanning China

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analysis demonstrated that there were neurofibromatosis type 2(NF2) alterations in intracranial and spinal schwannoma, which may be related to chromosome 22q and NF2 mutations. The chromatin-modifying genes ARID1A or ARID1B, as well as mutations in DDR1

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0062
Volume/Issue:
Volume 10: Issue 5
Open access
Leqi He Department of Clinical Laboratory Medicine, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Xiaoying Li Department of Endocrinology, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Zaoping Chen Department of Endocrinology, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Wei Wang Department of Endocrinology, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Kai Wang Department of Endocrinology, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Xinmei Huang Department of Endocrinology, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Qian Yang Department of Endocrinology, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Wencai Ke Department of Clinical Laboratory Medicine, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Jun Liu Department of Endocrinology, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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Bingbing Zha Department of Endocrinology, Fifth People’s Hospital of Shanghai Fudan University, Shanghai, China

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. ER-α mRNA expression was significantly stimulated by 0.1, 1, and 100 nM E2 ( P  < 0.05), while no alteration was observed by 10 nM E2 ( P  > 0.05). On the other hand, 0.1 nM E2 slightly increased the ER-β mRNA expression ( P  > 0.05), while 1, 10, and

Article Type:
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Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-22-0236
Volume/Issue:
Volume 11: Issue 10
Open access
Serena Martinelli Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

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Mario Maggi Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

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Elena Rapizzi Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy

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have shown that it is possible to immortalise cells, with minimal alteration of the phenotype, by introducing human telomerase reverse transcriptase (hTERT) into human cells ( 40 , 41 ). In 2013, Ghayee et al . applied this technology in an attempt to

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0472
Volume/Issue:
Volume 9: Issue 12
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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include a single copy of the intact hGH gene ( hGH-N / GH1) locus ( 10 , 11 ). This 171 kilobase (kb) transgene located on mouse chromosome 14 contains hGH-N and locus control region (LCR) which is marked by the presence of nuclease hypersensitive

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DOI:
https://doi.org/10.1530/EC-20-0354
Volume/Issue:
Volume 9: Issue 12
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Paula Bruna Araujo Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Diagnósticos da América SA, Rio de Janeiro, Rio de Janeiro, Brazil

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Leandro Kasuki Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Neuroendocrinology Unit, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
Endocrinology Unit, Hospital Federal de Bonsucesso, Rio de Janeiro, Rio de Janeiro, Brazil

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Carlos Henrique de Azeredo Lima Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Liana Ogino Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Aline H S Camacho Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
National Cancer Institute, Rio de Janeiro, Rio de Janeiro, Brazil

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Leila Chimelli Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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

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Monica R Gadelha Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
Neuroendocrinology Unit, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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in AIPmut patients ( 7 ). The observation of loss of heterozygosity (LOH) at the chromosome 11q13 in pituitary adenomas containing AIPmut provides another argument for the role of these genetic mutations in pituitary tumorigenesis ( 3 , 8

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0237
Volume/Issue:
Volume 6: Issue 8
Open access
Malgorzata Oczko-Wojciechowska Department of Genetic and Molecular Diagnostics of Cancer, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Agnieszka Czarniecka Oncologic and Reconstructive Surgery Clinic, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Tomasz Gawlik Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Barbara Jarzab Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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Jolanta Krajewska Nuclear Medicine and Endocrine Oncology Department, M. Sklodowska-Curie Institute National Research Institute of Oncology Gliwice Branch, Gliwice, Poland

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rarely NRAS somatic mutations ( 1 , 2 ). The most critical molecular pathways involved in MTC carcinogenesis are shown in Fig. 1 . Figure 1 Central signaling pathways activated by RET alterations in medullary thyroid cancer. Activation

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0374
Volume/Issue:
Volume 9: Issue 12
Open access