Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity-Reference-Cited by-同舟云学术

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

Published:2018-06-07 Issue:8 Volume:33 Page:1480-1488
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Hanna Patrick¹,Grybek Virginie¹,Perez de Nanclares Guiomar²,Tran Léa C³,de Sanctis Luisa⁴,Elli Francesca⁵,Errea Javier²,Francou Bruno⁶,Kamenicky Peter⁷⁸,Linglart Léa⁸,Pereda Arrate²,Rothenbuhler Anya⁸⁹,Tessaris Daniele⁴,Thiele Susanne¹⁰,Usardi Alessia⁸,Shoemaker Ashley H¹¹,Kottler Marie-Laure³,Jüppner Harald¹²,Mantovani Giovanna⁵,Linglart Agnès¹⁸⁹

Affiliation:

1. INSERM U1169 and Paris Sud Paris-Saclay University; Bicêtre Paris Sud Hospital; Le Kremlin Bicêtre France

2. Molecular (Epi)Genetics Laboratory; BioAraba National Health Institute; OSI Araba University Hospital; Vitoria-Gasteiz Spain

3. Caen University Hospital; Molecular Genetics Laboratory; Université Caen Normandie; Medical School; BioTARGEN; Caen Normandy University; Caen France

4. Paediatric Endocrinology Unit, Margherita Children Hospital, Department of Public Health and Pediatric Sciences, University of Torino; Torino Italy

5. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Endocrinology and Diabetology Unit; Department of Clinical Sciences and Community Health; University of Milan; Milan Italy

6. APHP, Department of Molecular Genetics; Bicêtre Paris Sud Hospital; Le Kremlin Bicêtre France

7. APHP, Department of Endocrinology and Reproductive Diseases; Bicêtre Paris Sud Hospital; Le Kremlin Bicêtre France

8. APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism; Filiere OSCAR and Platform of expertise for rare diseases Paris-Sud; Bicêtre Paris Sud Hospital; Le Kremlin Bicêtre France

9. APHP, Endocrinology and Diabetes for Children; Bicêtre Paris Sud Hospital; Le Kremlin Bicêtre France

10. Division of Experimental Pediatric Endocrinology and Diabetes Department of Pediatrics; Center of Brain, Behavior and Metabolism; University of Lübeck; Lübeck Germany

11. Vanderbilt University Medical Center; Nashville TN USA

12. Endocrine Unit and Pediatric Nephrology Unit; Massachusetts General Hospital and Harvard Medical School; Boston MA USA

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.3450/fullpdf

Reference35 articles.

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2. Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues;Mantovani;Nat Rev Endocrinol,2016

3. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins;Hayward;Proc Natl Acad Sci USA,1998