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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta, Marialetizia; Pannone, Luca; Pantaleoni, Francesca; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Cecchetti, Serena; Ciolfi, Andrea; Di Rocco, Martina; Elting, Mariet W; Brilstra, Eva H; Boni, Stefania; Mazzanti, Laura; Tamburrino, Federica; Walsh, Larry; Payne, Katelyn; Fernández-Jaén, Alberto; Ganapathi, Mythily; Chung, Wendy K; Grange, Dorothy K; Dave-Wala, Ashita; Reshmi, Shalini C; Bartholomew, Dennis W; Mouhlas, Danielle; Carpentieri, Giovanna; Bruselles, Alessandro; Pizzi, Simone; Bellacchio, Emanuele; Piceci-Sparascio, Francesca; Lißewski, Christina; Brinkmann, Julia; Waclaw, Ronald R; Waisfisz, Quinten; van Gassen, Koen; Wentzensen, Ingrid M; Morrow, Michelle M; Álvarez, Sara; Martínez-García, Mónica; De Luca, Alessandro; Memo, Luigi; Zampino, Giuseppe; Rossi, Cesare; Seri, Marco; Gelb, Bruce D; Zenker, Martin; Dallapiccola, Bruno; Stella, Lorenzo; Prada, Carlos E; Martinelli, Simone; Flex, Elisabetta; Tartaglia, Marco.
Affiliation
  • Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Pannone L; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Bocchinfuso G; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133, Rome, Italy.
  • Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Cecchetti S; Microscopy Area, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Di Rocco M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy; Department of Biochemical Science "A. Rossi Fanelli," Sapienza University of Rome, 00185 Rome, Italy.
  • Elting MW; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit, 1117 Amsterdam, the Netherlands.
  • Brilstra EH; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
  • Boni S; Medical Genetics Unit, S. Martino Hospital, 32100 Belluno, Italy.
  • Mazzanti L; Department of Medical and Surgical Sciences, Policlinico S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy.
  • Tamburrino F; Department of Medical and Surgical Sciences, Policlinico S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy.
  • Walsh L; Indiana University Health at Riley Hospital for Children, Indianapolis, IN 46202, USA.
  • Payne K; Indiana University Health at Riley Hospital for Children, Indianapolis, IN 46202, USA.
  • Fernández-Jaén A; Department of Pediatrics Neurology, Hospital Universitario Quirón de Madrid, Universidad Europea de Madrid, 28223 Madrid, Spain.
  • Ganapathi M; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA.
  • Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Dave-Wala A; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.
  • Reshmi SC; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA; Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH 43215, USA.
  • Bartholomew DW; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.
  • Mouhlas D; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43215, USA.
  • Carpentieri G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Lißewski C; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
  • Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
  • Waclaw RR; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
  • Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit, 1117 Amsterdam, the Netherlands.
  • van Gassen K; Department of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
  • Wentzensen IM; GeneDx, Gaithersburg, 20877 MD, USA.
  • Morrow MM; GeneDx, Gaithersburg, 20877 MD, USA.
  • Álvarez S; Medical Department, NimGenetics, 28049 Madrid, Spain.
  • Martínez-García M; Medical Department, NimGenetics, 28049 Madrid, Spain.
  • De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Memo L; Ambulatorio Genetica Clinica, Ospedale San Bortolo, 36100 Vicenza, Italy.
  • Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario Gemelli, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Rossi C; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, 40138 Bologna, Italy.
  • Seri M; Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, 40138 Bologna, Italy.
  • Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
  • Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Stella L; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133, Rome, Italy.
  • Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Am J Hum Genet ; 107(3): 499-513, 2020 09 03.
Article in En | MEDLINE | ID: mdl-32721402
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitogen-Activated Protein Kinase 1 / Carcinogenesis / Neurodevelopmental Disorders / Noonan Syndrome Type of study: Etiology_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2020 Document type: Article Affiliation country: Italia Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitogen-Activated Protein Kinase 1 / Carcinogenesis / Neurodevelopmental Disorders / Noonan Syndrome Type of study: Etiology_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2020 Document type: Article Affiliation country: Italia Country of publication: Estados Unidos