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Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Xu, Zhiwen; Lo, Wing-Sze; Beck, David B; Schuch, Luise A; Oláhová, Monika; Kopajtich, Robert; Chong, Yeeting E; Alston, Charlotte L; Seidl, Elias; Zhai, Liting; Lau, Ching-Fun; Timchak, Donna; LeDuc, Charles A; Borczuk, Alain C; Teich, Andrew F; Juusola, Jane; Sofeso, Christina; Müller, Christoph; Pierre, Germaine; Hilliard, Tom; Turnpenny, Peter D; Wagner, Matias; Kappler, Matthias; Brasch, Frank; Bouffard, John Paul; Nangle, Leslie A; Yang, Xiang-Lei; Zhang, Mingjie; Taylor, Robert W; Prokisch, Holger; Griese, Matthias; Chung, Wendy K; Schimmel, Paul.
Afiliação
  • Xu Z; IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Pangu Biopharma, Edinburgh Tower, The Landmark, 15 Queen's Road Central, Hong Kong, China; aTyr Pharma, 3545 John Hopkins Court, Suite 250
  • Lo WS; IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Pangu Biopharma, Edinburgh Tower, The Landmark, 15 Queen's Road Central, Hong Kong, China.
  • Beck DB; Department of Medicine, Columbia University, New York, NY 10032, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Schuch LA; Dr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337 München, Germany.
  • Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Kopajtich R; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Chong YE; aTyr Pharma, 3545 John Hopkins Court, Suite 250, San Diego, CA 92121, USA.
  • Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Seidl E; Dr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337 München, Germany.
  • Zhai L; IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China.
  • Lau CF; IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Pangu Biopharma, Edinburgh Tower, The Landmark, 15 Queen's Road Central, Hong Kong, China.
  • Timchak D; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Goryeb Children's Hospital, Atlantic Health System, Morristown, NJ 07960, USA.
  • LeDuc CA; Department of Pediatrics, Columbia University, New York, NY 10032, USA.
  • Borczuk AC; Department of Pathology, Weill Cornell Medicine, New York, NY 10065, USA.
  • Teich AF; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY 10032, USA.
  • Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
  • Sofeso C; Center for Human Genetics and Laboratory Diagnostics (AHC) Dr. Klein, Dr. Rost and Colleagues, Lochhamer Str. 29, 82152 Martinsried, Germany.
  • Müller C; Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, 79085 Freiburg, Germany.
  • Pierre G; Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8BJ, UK.
  • Hilliard T; Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8BJ, UK.
  • Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Wagner M; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; Institut für Neurogenomik, Helmholtz Zentrum Münc
  • Kappler M; Dr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337 München, Germany.
  • Brasch F; Klinikum Bielefeld Mitte, Institute for Pathology, Teutoburger Straße 50, 33604 Bielefeld, Germany.
  • Bouffard JP; Department Pathology, Morristown Memorial Hospital, Morristown, NJ 07960, USA.
  • Nangle LA; aTyr Pharma, 3545 John Hopkins Court, Suite 250, San Diego, CA 92121, USA.
  • Yang XL; IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037,
  • Zhang M; IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay,
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Prokisch H; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Griese M; Dr. von Hauner Children's Hospital, Division of Pediatric Pneumology, University Hospital Munich, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337 München, Germany.
  • Chung WK; Department of Medicine, Columbia University, New York, NY 10032, USA; Department of Pediatrics, Columbia University, New York, NY 10032, USA. Electronic address: wkc15@cumc.columbia.edu.
  • Schimmel P; IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037,
Am J Hum Genet ; 103(1): 100-114, 2018 07 05.
Article em En | MEDLINE | ID: mdl-29979980
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aminoacil-tRNA Sintetases / Pneumopatias / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aminoacil-tRNA Sintetases / Pneumopatias / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article