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J-GLOBAL ID：201902249777408198   Reference number：19A2206356

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

NotchリガンドDLL1のハプロ不全は可変性神経発達障害を引き起こす【JST・京大機械翻訳】

Author (48)： Fischer-Zirnsak Bjorn (Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany) ,  Segebrecht Lara (Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany) ,  Segebrecht Lara (Berlin Institute of Health (BIH), Berlin 10117, Germany) ,  Schubach Max (Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany) ,  Schubach Max (Berlin Institute of Health (BIH), Berlin 10117, Germany) ,  Charles Perrine (Department of Genetics, Assistance Publique - Hopitaux de Paris, Hopital Pitie-Salpetriere, Paris 75013, France) ,  Alderman Emily (Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada) ,  Brown Kathleen (Department of Pediatrics, The Children’s Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA) ,  Cadieux-Dion Maxime (Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA) ,  Cadieux-Dion Maxime (Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO 64108, USA) ,  Cartwright Tracy (Neuroscape Center, Departments of Neurology, Pediatrics, Physiology, Radiology, and Psychiatry, University of California, San Francisco, CA 94158, USA) ,  Chen Yanmin (GeneDx, Gaithersburg, MD 20877, USA) ,  Costin Carrie (Akron Children’s Hospital, Akron, OH 44302, USA) ,  Fehr Sarah (Praxis fuer Humangenetik Tuebingen, Tuebingen 72076, Germany) ,  Fitzgerald Keely M. (Division of Child Neurology, Department of Pediatrics, Children’s Mercy Hospital & Clinics, Kansas City, MO 64108, USA) ,  Fitzgerald Keely M. (University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA) ,  Fleming Emily (Division of Clinical Genetics, Children’s Mercy Hospital & Clinics, Kansas City, MO 64108, USA) ,  Foss Kimberly (Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105, USA) ,  Ha Thoa (Division of Genetics, Department Pediatrics, University of California, San Francisco, CA 94143-2711, USA) ,  Hildebrand Gabriele (Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany) ,  Horn Denise (Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany) ,  Liu Shuxi (GeneDx, Gaithersburg, MD 20877, USA) ,  Marco Elysa J. (Cortica Healthcare, San Rafael, CA 94903, USA) ,  McDonald Marie (Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA) ,  McWalter Kirsty (GeneDx, Gaithersburg, MD 20877, USA) ,  Race Simone (Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada) ,  Rush Eric T. (Division of Clinical Genetics, Children’s Mercy Hospital & Clinics, Kansas City, MO 64108, USA) ,  Si Yue (GeneDx, Gaithersburg, MD 20877, USA) ,  Saunders Carol (Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA) ,  Saunders Carol (Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO 64108, USA) ,  Saunders Carol (University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA) ,  Slavotinek Anne (Division of Genetics, Department Pediatrics, University of California, San Francisco, CA 94143-2711, USA) ,  Stockler-Ipsiroglu Sylvia (Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children’s Hospital, Vancouver, BC V6H 3N1, Canada) ,  Telegrafi Aida (GeneDx, Gaithersburg, MD 20877, USA) ,  Thiffault Isabelle (Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, MO 64108, USA) ,  Thiffault Isabelle (Department of Pathology and Laboratory Medicine, Children’s Mercy Hospitals, Kansas City, MO 64108, USA) ,  Thiffault Isabelle (University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA) ,  Torti Erin (GeneDx, Gaithersburg, MD 20877, USA) ,  Tsai Anne Chun-hui (Department of Pediatrics, The Children’s Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA) ,  Tsai Anne Chun-hui (Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA) ,  Wang Xin (GeneDx, Gaithersburg, MD 20877, USA) ,  Zafar Muhammad (Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA) ,  Keren Boris (Department of Genetics, Assistance Publique - Hopitaux de Paris, Hopital Pitie-Salpetriere, Paris 75013, France) ,  Kornak Uwe (Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany) ,  Boerkoel Cornelius F. (Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada) ,  Mirzaa Ghayda (Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98101, USA) ,  Mirzaa Ghayda (Department of Pediatrics, University of Washington, Seattle, WA 98195, USA) ,  Ehmke Nadja (Charite - Universitaetsmedizin Berlin, Berlin 13353, Germany)
Material： American Journal of Human Genetics  (AJHG)
Volume： 105  Issue： 3  Page： 631-639  Publication year： 2019 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Notch signaling is an establis...

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Thesaurus term： autism ,  morphogenesis ,  phenotype ,  intelligence disorder ,  pathogenesis ,  human(primates) ,  gene deficiency ,  seizure(disease) ,  population(statistics) ,  *Notch receptor
Semi thesaurus term： スプライス部位 ,  エキソソーム ,  *神経発達障害 ,  *ハプロ不全 ,  *リガンド , 【Automatic Indexing@JST】

Author keywords (7)： DLL1 ,  intellectual disability ,  developmental delay ,  autism ,  brain malformation ,  vertebral segmentation defects ,  Notch signaling

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (6)： Notch ,  リガンド ,  Dll1 ,  ハプロ不全 ,  可変性 ,  神経発達障害