Art

J-GLOBAL ID：202002266991357174   Reference number：20A0188968

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

二対立遺伝子UqcrFS1変異体はミトコンドリア複合体III欠損,心筋症および脱毛症と関連する【JST・京大機械翻訳】

Author (27)： Gusic Mirjana (Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany) ,  Gusic Mirjana (Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany) ,  Schottmann Gudrun (Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany) ,  Schottmann Gudrun (Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany) ,  Feichtinger Rene G. (University Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria) ,  Du Chen (Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover, Germany) ,  Scholz Caroline (Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover, Germany) ,  Wagner Matias (Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany) ,  Wagner Matias (Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany) ,  Wagner Matias (Institute of Neurogenomics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany) ,  Mayr Johannes A. (University Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria) ,  Lee Chae-Young (Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany) ,  Lee Chae-Young (Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany) ,  Yepez Vicente A. (Department of Informatics, Technical University of Munich, 81371 Garching, Germany) ,  Lorenz Norbert (Department of Pediatric Cardiology, Municipal Hospital Dresden, 01307 Dresden, Germany) ,  Morales-Gonzalez Susanne (Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany) ,  Morales-Gonzalez Susanne (Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany) ,  Panneman Daan M. (Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands) ,  Rotig Agnes (UMR 1163, Universite Paris Descartes, Sorbonne Paris Cite, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France) ,  Rodenburg Richard J.T. (Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands) ,  Wortmann Saskia B. (Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany) ,  Wortmann Saskia B. (Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany) ,  Wortmann Saskia B. (University Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria) ,  Prokisch Holger (Institute of Human Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany) ,  Prokisch Holger (Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany) ,  Schuelke Markus (Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany) ,  Schuelke Markus (Charite-Universitaetsmedizin Berlin, corporate member of the Freie Universitaet Berlin and Humboldt-Universitaet zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany)
Material： American Journal of Human Genetics  (AJHG)
Volume： 106  Issue： 1  Page： 102-111  Publication year： 2020 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Isolated complex III (CIII) de...

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Thesaurus term： Lentivirus ,  mitochondrial disease ,  protein ,  pathogenicity ,  muscular disease ,  child ,  *mitochondria ,  phenotype ,  iron-sulfur protein ,  fibroblast ,  mutation ,  wild type ,  subunit ,  *gene ,  *allele

Author keywords (9)： mitochondriopathy ,  mitochondrial complex III deficiency ,  Rieske iron-sulfur protein ,  cardiomyopathy ,  alopecia ,  mutation ,  microscale respiratory ,  mitochondrial import sequence ,  Q-cycle

JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (7)： 対立遺伝子 ,  変異体 ,  ミトコンドリア ,  複合体III ,  欠損 ,  心筋症 ,  脱毛症