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Germline AGO2 mutations impair RNA interference and human neurological development.
Lessel, Davor; Zeitler, Daniela M; Reijnders, Margot R F; Kazantsev, Andriy; Hassani Nia, Fatemeh; Bartholomäus, Alexander; Martens, Victoria; Bruckmann, Astrid; Graus, Veronika; McConkie-Rosell, Allyn; McDonald, Marie; Lozic, Bernarda; Tan, Ee-Shien; Gerkes, Erica; Johannsen, Jessika; Denecke, Jonas; Telegrafi, Aida; Zonneveld-Huijssoon, Evelien; Lemmink, Henny H; Cham, Breana W M; Kovacevic, Tanja; Ramsdell, Linda; Foss, Kimberly; Le Duc, Diana; Mitter, Diana; Syrbe, Steffen; Merkenschlager, Andreas; Sinnema, Margje; Panis, Bianca; Lazier, Joanna; Osmond, Matthew; Hartley, Taila; Mortreux, Jeremie; Busa, Tiffany; Missirian, Chantal; Prasun, Pankaj; Lüttgen, Sabine; Mannucci, Ilaria; Lessel, Ivana; Schob, Claudia; Kindler, Stefan; Pappas, John; Rabin, Rachel; Willemsen, Marjolein; Gardeitchik, Thatjana; Löhner, Katharina; Rump, Patrick; Dias, Kerith-Rae; Evans, Carey-Anne; Andrews, Peter Ian.
Afiliação
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. d.lessel@uke.de.
  • Zeitler DM; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
  • Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Kazantsev A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Hassani Nia F; Institute of Biochemistry & Molecular Biology, University of Hamburg, Hamburg, Germany.
  • Bartholomäus A; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Martens V; Institute of Biochemistry & Molecular Biology, University of Hamburg, Hamburg, Germany.
  • Bruckmann A; GFZ German Research Centre for Geosciences, Section Geomicrobiology, Potsdam, Germany.
  • Graus V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • McConkie-Rosell A; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
  • McDonald M; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
  • Lozic B; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, 27707, USA.
  • Tan ES; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, 27707, USA.
  • Gerkes E; University Hospital of Split, Split, Croatia.
  • Johannsen J; University of Split School of Medicine, Split, Croatia.
  • Denecke J; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore, Singapore.
  • Telegrafi A; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Zonneveld-Huijssoon E; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany.
  • Lemmink HH; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany.
  • Cham BWM; GeneDx, Gaithersburg, MD, 20877, USA.
  • Kovacevic T; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Ramsdell L; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Foss K; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore, Singapore.
  • Le Duc D; University Hospital of Split, Split, Croatia.
  • Mitter D; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, 98105, USA.
  • Syrbe S; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, 98105, USA.
  • Merkenschlager A; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Sinnema M; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Panis B; Department of General Paediatrics, Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Lazier J; Department of Neuropediatrics, University of Leipzig, Leipzig, Germany.
  • Osmond M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Hartley T; Department of Pediatrics, Zuyderland Medical Center, Heerlen and Sittard, 6419, the Netherlands.
  • Mortreux J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Busa T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Missirian C; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Prasun P; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France.
  • Lüttgen S; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
  • Mannucci I; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France.
  • Lessel I; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France.
  • Schob C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
  • Kindler S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.
  • Pappas J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Rabin R; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Willemsen M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Gardeitchik T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Löhner K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Rump P; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, 10016, USA.
  • Dias KR; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, 10016, USA.
  • Evans CA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Andrews PI; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Nat Commun ; 11(1): 5797, 2020 11 16.
Article em En | MEDLINE | ID: mdl-33199684
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Interferência de RNA / Proteínas Argonautas / Células Germinativas / Mutação / Sistema Nervoso Limite: Adolescent / Animals / Child / Child, preschool / Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Interferência de RNA / Proteínas Argonautas / Células Germinativas / Mutação / Sistema Nervoso Limite: Adolescent / Animals / Child / Child, preschool / Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha