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In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.
Salvatori, Roberto; Radian, Serban; Diekmann, Yoan; Iacovazzo, Donato; David, Alessia; Gabrovska, Plamena; Grassi, Giorgia; Bussell, Anna-Marie; Stals, Karen; Weber, Astrid; Quinton, Richard; Crowne, Elizabeth C; Corazzini, Valentina; Metherell, Lou; Kearney, Tara; Du Plessis, Daniel; Sinha, Ajay Kumar; Baborie, Atik; Lecoq, Anne-Lise; Chanson, Philippe; Ansorge, Olaf; Ellard, Sian; Trainer, Peter J; Balding, David; Thomas, Mark G; Korbonits, Márta.
Afiliação
  • Salvatori R; Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Radian S; William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
  • Diekmann Y; Department of Endocrinology, C.I. Parhon National Institute of Endocrinology, 'C. Davila' University of Medicine and Pharmacy, Bucharest, Romania.
  • Iacovazzo D; Research Department of Genetics, Evolution and Environment, University College London, London, UK.
  • David A; William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
  • Gabrovska P; Centre of Bioinformatics and System Biology, Department of Life Sciences, Imperial College London, London, UK.
  • Grassi G; William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
  • Bussell AM; William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
  • Stals K; Department of Molecular Genetics, Royal Devon and Exeter Foundation Trust, Exeter, UK.
  • Weber A; Department of Molecular Genetics, Royal Devon and Exeter Foundation Trust, Exeter, UK.
  • Quinton R; Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool, UK.
  • Crowne EC; Department of Endocrinology, Newcastle-upon-Tyne Hospitals & Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
  • Corazzini V; Bristol Royal Hospital for Children, University Hospitals Bristol Foundation Trust, Bristol, UK.
  • Metherell L; Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Kearney T; William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
  • Du Plessis D; Endocrinology and Neuropathology Unit, Salford Royal Hospital, Manchester, UK.
  • Sinha AK; Endocrinology and Neuropathology Unit, Salford Royal Hospital, Manchester, UK.
  • Baborie A; The Walton Centre for Neurology and Neurosurgery, Liverpool, UK.
  • Lecoq AL; The Walton Centre for Neurology and Neurosurgery, Liverpool, UK.
  • Chanson P; Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre, France.
  • Ansorge O; Inserm 1185, Fac Med Paris Sud, Univ Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
  • Ellard S; Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Le Kremlin-Bicêtre, France.
  • Trainer PJ; Inserm 1185, Fac Med Paris Sud, Univ Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
  • Balding D; Neuropathology, University of Oxford, Oxford, UK.
  • Thomas MG; Department of Molecular Genetics, Royal Devon and Exeter Foundation Trust, Exeter, UK.
  • Korbonits M; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Eur J Endocrinol ; 177(3): 257-266, 2017 Sep.
Article em En | MEDLINE | ID: mdl-28634279
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Alelos / Gigantismo Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País como assunto: America do norte / Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Alelos / Gigantismo Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País como assunto: America do norte / Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article