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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Lennox, Ashley L; Hoye, Mariah L; Jiang, Ruiji; Johnson-Kerner, Bethany L; Suit, Lindsey A; Venkataramanan, Srivats; Sheehan, Charles J; Alsina, Fernando C; Fregeau, Brieana; Aldinger, Kimberly A; Moey, Ching; Lobach, Iryna; Afenjar, Alexandra; Babovic-Vuksanovic, Dusica; Bézieau, Stéphane; Blackburn, Patrick R; Bunt, Jens; Burglen, Lydie; Campeau, Philippe M; Charles, Perrine; Chung, Brian H Y; Cogné, Benjamin; Curry, Cynthia; D'Agostino, Maria Daniela; Di Donato, Nataliya; Faivre, Laurence; Héron, Delphine; Innes, A Micheil; Isidor, Bertrand; Keren, Boris; Kimball, Amy; Klee, Eric W; Kuentz, Paul; Küry, Sébastien; Martin-Coignard, Dominique; Mirzaa, Ghayda; Mignot, Cyril; Miyake, Noriko; Matsumoto, Naomichi; Fujita, Atsushi; Nava, Caroline; Nizon, Mathilde; Rodriguez, Diana; Blok, Lot Snijders; Thauvin-Robinet, Christel; Thevenon, Julien; Vincent, Marie; Ziegler, Alban; Dobyns, William; Richards, Linda J.
Afiliação
  • Lennox AL; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
  • Hoye ML; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
  • Jiang R; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Johnson-Kerner BL; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Suit LA; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Venkataramanan S; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Sheehan CJ; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
  • Alsina FC; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
  • Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Moey C; The University of Queensland, Queensland Brain Institute, Brisbane, QLD 4072, Australia.
  • Lobach I; Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA 94158, USA.
  • Afenjar A; Centre de référence des malformations et maladies congénitales du cervelet et Département de génétique et embryologie médicale, APHP, Sorbonne Université, Hôpital Armand Trousseau, 75012 Paris, France.
  • Babovic-Vuksanovic D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.
  • Bézieau S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
  • Bunt J; The University of Queensland, Queensland Brain Institute, Brisbane, QLD 4072, Australia.
  • Burglen L; Centre de référence des malformations et maladies congénitales du cervelet et Département de génétique et embryologie médicale, APHP, Sorbonne Université, Hôpital Armand Trousseau, 75012 Paris, France.
  • Campeau PM; Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada.
  • Charles P; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
  • Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Cogné B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA.
  • D'Agostino MD; Division of Medical Genetics, Departments of Specialized Medicine and Human Genetics, McGill University, Montreal, QC, Canada.
  • Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
  • Faivre L; Centre de référence Anomalies du Développement et Syndromes Malformatifs, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France.
  • Héron D; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
  • Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Isidor B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Keren B; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
  • Kimball A; Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
  • Klee EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, M
  • Kuentz P; UMR-INSERM 1231 GAD, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.
  • Küry S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Martin-Coignard D; Service de Génétique, Centre hospitalier du Mans, Le Mans, France.
  • Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.
  • Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Nava C; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
  • Nizon M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Rodriguez D; Centre de Référence Neurogénétique & Service de Neurologie Pédiatrique, APHP, Sorbonne Université, Hôpital Armand Trousseau, 75012 Paris, France.
  • Blok LS; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Thauvin-Robinet C; Centre de référence Déficience Intellectuelle, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France.
  • Thevenon J; Centre de référence Anomalies du Développement et Syndromes Malformatifs, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France.
  • Vincent M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
  • Ziegler A; Service de Génétique, CHU d'Angers, Angers, France.
  • Dobyns W; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98101, USA.
  • Richards LJ; The University of Queensland, Queensland Brain Institute, Brisbane, QLD 4072, Australia; The University of Queensland, School of Biomedical Sciences, Brisbane 4072, QLD, Australia.
Neuron ; 106(3): 404-420.e8, 2020 05 06.
Article em En | MEDLINE | ID: mdl-32135084
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Córtex Cerebral / Mutação de Sentido Incorreto / RNA Helicases DEAD-box / Neurogênese / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Córtex Cerebral / Mutação de Sentido Incorreto / RNA Helicases DEAD-box / Neurogênese / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2020 Tipo de documento: Article