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Ehsan Razmara Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
Australian Regenerative Medicine Institute, Monash University, Clayton, Australia

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Mehrnaz Salehi School of Medicine, Shahrekord University of Medical Science, Shahrekord, Iran

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Saeed Aslani Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran

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Amirreza Bitaraf Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran

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Hassan Yousefi Department of Biochemistry and Molecular Biology, LSUHSC School of Medicine, New Orleans, Louisiana, USA

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Jonathan Rosario Colón Department of Biochemistry and Molecular Biology, LSUHSC School of Medicine, New Orleans, Louisiana, USA

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Mahdi Mahmoudi Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
Inflammation Research Center, Tehran University of Medical Sciences, Tehran, Iran

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of the FCRL3 is strongly correlated with the predisposition of GD among the Chinese population. This allele is tightly pertinent to positive TSHR autoantibodies that in turn result in thyroid diseases ( Jin et al. 2015 ). It seems that the genetic

Article Type:
Review Article
DOI:
https://doi.org/10.1530/JME-20-0078
Volume/Issue:
Volume 66: Issue 2
Free access
Catherine J Owen
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James A Eden
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Claire E Jennings
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Valerie Wilson
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Tim D Cheetham
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Simon H S Pearce
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F & D’Angelo A 2000 Association studies of genetic polymorphisms and complex disease. Lancet 355 308 –311. Gambineri E , Torgerson TR & Ochs HD 2003 Immune dysregulation, polyendocrinopathy, enteropathy, and X

Article Type:
Research Article
DOI:
https://doi.org/10.1677/jme.1.02072
Volume/Issue:
Volume 37: Issue 1
Free access
Yangli Xie Department of Rehabilitation Medicine, Center of Bone Metabolism and Repair, Trauma Center, State Key Laboratory of Trauma, Burns and Combined Injury, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, China

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Siru Zhou Department of Rehabilitation Medicine, Center of Bone Metabolism and Repair, Trauma Center, State Key Laboratory of Trauma, Burns and Combined Injury, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, China

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Hangang Chen Department of Rehabilitation Medicine, Center of Bone Metabolism and Repair, Trauma Center, State Key Laboratory of Trauma, Burns and Combined Injury, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, China

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Xiaolan Du Department of Rehabilitation Medicine, Center of Bone Metabolism and Repair, Trauma Center, State Key Laboratory of Trauma, Burns and Combined Injury, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, China

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Lin Chen Department of Rehabilitation Medicine, Center of Bone Metabolism and Repair, Trauma Center, State Key Laboratory of Trauma, Burns and Combined Injury, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, China

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with ACH ( http://www.bmrn.com ). Perspectives Although we have made extensive progresses in understanding the roles of FGF signaling in the skeleton, especially in growth plate development and diseases during the last 20 years by using genetically

Article Type:
Review Article
DOI:
https://doi.org/10.1530/JME-14-0012
Volume/Issue:
Volume 53: Issue 1
Free access
Alberto Cascón Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Bruna Calsina Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain

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María Monteagudo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain

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Sara Mellid Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain

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Alberto Díaz-Talavera Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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Maria Currás-Freixes Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain

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Mercedes Robledo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

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retroperitoneal tumor and no family history of the disease ( Andrews et al. 2018 ). All genetic study algorithms for PPGL include SDHB because it is considered to be a poor prognostic factor. However, a recent study aiming to validate prognostic parameters of

Article Type:
Review Article
DOI:
https://doi.org/10.1530/JME-22-0167
Volume/Issue:
Volume 70: Issue 3
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Subhamoy Dasgupta Department of Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA

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Bert W O'Malley Department of Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA

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's disease, transcriptional coactivator PGC1α (PPARGC1A) expression is severely impaired, and mouse genetic studies revealed that loss of PGC1α severely impairs metabolism and accentuates neurodegeneration. Huntington's disease is an autosomal dominant

Article Type:
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DOI:
https://doi.org/10.1530/JME-14-0080
Volume/Issue:
Volume 53: Issue 2
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Victor Quereda Cell Division and Cancer Group, Centro Nacional de Investigaciones Oncológicas (CNIO), Melchor Fernández Almagro 3, E-28029 Madrid, Spain

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Marcos Malumbres Cell Division and Cancer Group, Centro Nacional de Investigaciones Oncológicas (CNIO), Melchor Fernández Almagro 3, E-28029 Madrid, Spain

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pituitary gland are critical targets of cell cycle deregulation in cancer and other diseases. The initial link between cell cycle regulation and the pituitary comes from the seminal genetic analysis of pRB in the mouse ( Clarke et al . 1992 , Jacks et al

Article Type:
Research Article
DOI:
https://doi.org/10.1677/JME-08-0146
Volume/Issue:
Volume 42: Issue 2
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Verónica García-Carpizo
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Lidia Ruiz-Llorente
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Mario Fraga Instituto de Investigaciones Biomédicas, Centro Nacional de Biotecnología, Instituto Universitario de Oncología del Principado de Asturias (IUOPA), Consejo Superior de Investigaciones Científicas and Universidad Autónoma de Madrid, Arturo Duperier 4, 28029 Madrid, Spain
Instituto de Investigaciones Biomédicas, Centro Nacional de Biotecnología, Instituto Universitario de Oncología del Principado de Asturias (IUOPA), Consejo Superior de Investigaciones Científicas and Universidad Autónoma de Madrid, Arturo Duperier 4, 28029 Madrid, Spain

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Ana Aranda
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expression. DNA methylation and endocrine diseases Epigenetic changes are not only responsible for normal development, but they are also involved in disease. Genetic lesions, including mutations, deletions, or breakages, are well known to produce disorders in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/JME-11-0059
Volume/Issue:
Volume 47: Issue 2
Free access
Kai Huang Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China

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Gezi Chen Department of Obstetrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China

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Wenqian Fan Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China

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Linli Hu Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China

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for degradation . Nature Cell Biology 8 348 – 357 . ( https://doi.org/10.1038/ncb1381 ) Beermann J Piccoli MT Viereck J Thum T 2016 Non-coding RNAs in development and disease: background, mechanisms, and therapeutic approaches

Article Type:
Research Article
DOI:
https://doi.org/10.1530/JME-20-0053
Volume/Issue:
Volume 65: Issue 2
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Christopher J Romero Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, CMSC 406, Baltimore, Maryland 21208, USA

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Elyse Pine-Twaddell Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, CMSC 406, Baltimore, Maryland 21208, USA

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Sally Radovick Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, CMSC 406, Baltimore, Maryland 21208, USA

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insult. However, a subset of patients, who present during infancy or childhood with CPHD, is classified as having idiopathic disease. These patients may be considered to have a genetic etiology for their deficiencies, associated with mutations in several

Article Type:
Research Article
DOI:
https://doi.org/10.1530/JME-10-0133
Volume/Issue:
Volume 46: Issue 3
Free access
Alberto Pascual Instituto de Biomedicina de Sevilla, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain
Instituto de Biomedicina de Sevilla, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain

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María Hidalgo-Figueroa Instituto de Biomedicina de Sevilla, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain
Instituto de Biomedicina de Sevilla, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain

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Raquel Gómez-Díaz Instituto de Biomedicina de Sevilla, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain
Instituto de Biomedicina de Sevilla, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain

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José López-Barneo Instituto de Biomedicina de Sevilla, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain
Instituto de Biomedicina de Sevilla, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain

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and neurite branching in vitro ), maturation of electrophysiological properties, and plasticity. Due to their functional roles, NTFs are considered a promising tool to treat neurodegenerative diseases ( Kirik et al . 2004 ), and particularly

Article Type:
Research Article
DOI:
https://doi.org/10.1530/JME-10-0125
Volume/Issue:
Volume 46: Issue 3
Free access