Germline AGO2 mutations impair RNA interference and human neurological development.
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| Title: | Germline AGO2 mutations impair RNA interference and human neurological development. |
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| Authors: | 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.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Kazantsev A; Institute of Biochemistry & Molecular Biology, University of Hamburg, Hamburg, Germany., Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Bartholomäus A; Institute of Biochemistry & Molecular Biology, University of Hamburg, Hamburg, Germany.; GFZ German Research Centre for Geosciences, Section Geomicrobiology, Potsdam, Germany., Martens V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Bruckmann A; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany., Graus V; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany., McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, 27707, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, 27707, USA., Lozic B; University Hospital of Split, Split, Croatia.; University of Split School of Medicine, Split, Croatia., Tan ES; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore, Singapore., Gerkes E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Johannsen J; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany., Telegrafi A; GeneDx, Gaithersburg, MD, 20877, USA., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Lemmink HH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Cham BWM; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore, Singapore., Kovacevic T; University Hospital of Split, Split, Croatia., Ramsdell L; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, 98105, USA., Foss K; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, 98105, USA., Le Duc D; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Mitter D; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Syrbe S; Department of General Paediatrics, Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Merkenschlager A; Department of Neuropediatrics, University of Leipzig, Leipzig, Germany., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Panis B; Department of Pediatrics, Zuyderland Medical Center, Heerlen and Sittard, 6419, the Netherlands., Lazier J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Mortreux J; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Busa T; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France., Missirian C; Département de Génétique Médicale, CHU Timone Enfants, Assistance Publique - Hôpitaux de Marseille AP-HM, Marseille, France.; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Prasun P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA., Lüttgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Mannucci I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Lessel I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Pappas J; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, 10016, USA., Rabin R; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY, 10016, USA., Willemsen M; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands., Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Rump P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Dias KR; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia.; NSW Health Pathology Randwick Genetics, Sydney, Australia., Evans CA; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia.; NSW Health Pathology Randwick Genetics, Sydney, Australia., Andrews PI; Department of Neurology, Sydney Children's Hospital, Sydney, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, Australia., Roscioli T; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; New South Wales Health Pathology Genomics Laboratory Randwick, Sydney, Australia., Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Chijiwa C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Lewis MES; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada., Jamra RA; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Tan EC; Research Laboratory, KK Women's & Children's Hospital, Singapore, Singapore., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, 98195, US., McWalter K; GeneDx, Gaithersburg, MD, 20877, USA., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Ignatova Z; Institute of Biochemistry & Molecular Biology, University of Hamburg, Hamburg, Germany., Meister G; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany., Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. kreienkamp@uke.de. |
| Source: | Nature communications [Nat Commun] 2020 Nov 16; Vol. 11 (1), pp. 5797. Date of Electronic Publication: 2020 Nov 16. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2041-1723 |
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| DOI: | 10.1038/s41467-020-19572-5 |
