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ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
Haupt, Julia; Deichsel, Alexandra; Stange, Katja; Ast, Cindy; Bocciardi, Renata; Ravazzolo, Roberto; Di Rocco, Maja; Ferrari, Paola; Landi, Antonio; Kaplan, Frederick S; Shore, Eileen M; Reissner, Carsten; Seemann, Petra.
Affiliation
  • Haupt J; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, Department of Orthopaedic Surgery, Perelman School of Medicine.
  • Deichsel A; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, Berlin Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Stange K; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, Berlin Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Ast C; Research Group Development and Disease, Max-Planck-Institut für Molekulare Genetik, 14195 Berlin, Germany.
  • Bocciardi R; Medical Genetics Unit, G. Gaslini Institute, and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genova, 16147 Genova, Italy.
  • Ravazzolo R; Medical Genetics Unit, G. Gaslini Institute, and Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genova, 16147 Genova, Italy.
  • Di Rocco M; Unit of Rare Diseases, G. Gaslini Institute, 16147 Genova, Italy.
  • Ferrari P; Department of Pediatrics, University of Modena and Reggio Emilia, 41100 Modena, Italy.
  • Landi A; Hand Surgery and Microsurgery Unit, Policlinico of Modena, 41100 Modena, Italy.
  • Kaplan FS; Department of Orthopaedic Surgery, Perelman School of Medicine, Center for Research in FOP and Related Disorders, Perelman School of Medicine, Department of Medicine, Perelman School of Medicine.
  • Shore EM; Department of Orthopaedic Surgery, Perelman School of Medicine, Center for Research in FOP and Related Disorders, Perelman School of Medicine, Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104 PA, USA.
  • Reissner C; Institute of Anatomy and Molecular Neurobiology, Universitätsklinikum Münster, 48149 Münster, Germany.
  • Seemann P; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, Berlin Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany Research Group Development and Disease, Max-Planck-Institut f
Hum Mol Genet ; 23(20): 5364-77, 2014 Oct 15.
Article in En | MEDLINE | ID: mdl-24852373
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Full text: 1 Database: MEDLINE Main subject: Point Mutation / Muscle, Skeletal / Activin Receptors, Type I / Myositis Ossificans Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Child / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2014 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Point Mutation / Muscle, Skeletal / Activin Receptors, Type I / Myositis Ossificans Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Child / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2014 Type: Article