IGSF 10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

EMBO Molecular Medicine - Tập 8 Số 6 - Trang 626-642 - 2016
Sasha Howard1, Leonardo Guasti1, Gerard Ruiz‐Babot1, Alessandra Mancini1, Alessia David2, Helen Storr1, Lou Metherell1, Michael J.E. Sternberg2, Claudia Cabrera3,4, Helen R. Warren5,4, Michael R. Barnes3,4, Richard Quinton6, Nicolás de Roux7,8,9, Jacques Young10,11,12,13, Anne Jouinot10,12,13, Karoliina Wehkalampi14, Valentina Andrè15, Yoav Gothilf16, Anna Cariboni15,17, Leo Dunkel1
1Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
2Centre for Integrative Systems Biology and Bioinformatics, Department of Life Sciences, Imperial College London, London, UK
3Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
4NIHR Barts Cardiovascular Biomedical Research Unit Queen Mary University of London London UK
5Department of Clinical Pharmacology William Harvey Research Institute Barts and The London School of Medicine Queen Mary University of London London UK
6Institute of Genetic Medicine University of Newcastle-upon-Tyne Newcastle-upon-Tyne UK
7Laboratoire de Biochimie Assistance Publique‐Hôpitaux de Paris Hôpital Robert Debré Paris France
8Unité Mixte de Recherche 1141, Institut National de la Santé et de la Recherche Médicale, Paris, France
9Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France
10Assistance Publique‐Hôpitaux de Paris Bicêtre Hospital Le Kremlin‐Bicêtre France
11Department of Reproductive Endocrinology Bicêtre Hospital Le Kremlin‐Bicêtre France
12INSERM UMR‐1185 Le Kremlin Bicêtre France
13Univ Paris‐Sud Le Kremlin Bicêtre France
14Children’s Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
15Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy
16Department of Neurobiology The George S. Wise Faculty of Life Sciences and Sagol School of Neuroscience Tel‐Aviv University Tel Aviv Israel
17Institute of Ophthalmology, University College London (UCL), London, UK

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