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Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Björn; Monaghan, Kristin G; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Gabau Vila, Elisabeth; Mak, Bryan C; Martinez-Agosto, Julian A; Gorin, Michael B; Duz, Bugrahan; Bayram, Yavuz; Carvalho, Claudia M B; Vengoechea, Jaime E; Chitayat, David; Tan, Tiong Yang; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Striano, Pasquale; Nigro, Vincenzo; Severino, Mariasavina; Capra, Valeria; Costain, Gregory; Nagata, Koh Ichi.
Afiliação
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Nishikawa M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Ito H; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
  • Tabata H; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
  • Khan T; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
  • Accogli A; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
  • Davids L; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ruiz A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Chiurazzi P; Department of Human Genetics, Emory Healthcare, Atlanta, GA 30322, USA.
  • Cericola G; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de, Barcelona, Sabadell, Spain.
  • Schulte B; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Rome, Italy.
  • Monaghan KG; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Begtrup A; Neuropediatric Department, Helios-Klinikum Hildesheim, Hildesheim, Germany.
  • Torella A; Praxis für Humangenetik, Tübingen, Germany.
  • Pinelli M; GeneDx, Gaithersburg, MD, USA.
  • Denommé-Pichon AS; GeneDx, Gaithersburg, MD, USA.
  • Vitobello A; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Racine C; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.
  • Mancardi MM; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Kiss C; INSERM UMR1231 Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France.
  • Guerin A; Laboratoire de Génétique Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau Technique de Biologie, CHU de Dijon Bourgogne, Dijon, France.
  • Wu W; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est, FHU TRANSLAD, Hôpital d'Enfants, CHU de Dijon Bourgogne, Dijon, France.
  • Gabau Vila E; INSERM UMR1231 Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France.
  • Mak BC; Laboratoire de Génétique Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau Technique de Biologie, CHU de Dijon Bourgogne, Dijon, France.
  • Martinez-Agosto JA; Laboratoire de Génétique Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau Technique de Biologie, CHU de Dijon Bourgogne, Dijon, France.
  • Gorin MB; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est, FHU TRANSLAD, Hôpital d'Enfants, CHU de Dijon Bourgogne, Dijon, France.
  • Duz B; Unit of Child Neuropsychiatry, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Bayram Y; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada.
  • Carvalho CMB; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada.
  • Vengoechea JE; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Chitayat D; Queen's University, Kingston, ON, Canada.
  • Tan TY; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de, Barcelona, Sabadell, Spain.
  • Callewaert B; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
  • Kruse B; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
  • Bird LM; Department of Pediatrics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
  • Faivre L; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
  • Zollino M; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
  • Biskup S; Department of Ophthalmology, Jules Stein Eye Institute, David Geffen School of Medicine, UCLA, Los Angeles 90095, CA, USA.
  • Striano P; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Nigro V; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Severino M; Pacific Northwest Research Institute, Seattle, WA 98122, USA.
  • Capra V; Baylor College of Medicine, Houston, TX 77030, USA.
  • Costain G; Department of Human Genetics, Emory Healthcare, Atlanta, GA 30322, USA.
  • Nagata KI; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Brain ; 145(9): 3308-3327, 2022 09 14.
Article em En | MEDLINE | ID: mdl-35851598
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas rac de Ligação ao GTP / Transtornos do Neurodesenvolvimento Limite: Animals / Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas rac de Ligação ao GTP / Transtornos do Neurodesenvolvimento Limite: Animals / Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália