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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P A; Prada, Carlos E; Hopkin, Robert J; Shieh, Joseph T; McWalter, Kirsty; Monaghan, Kristin G; van Hasselt, Peter M; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A; Lalani, Seema R; Azamian, Mahshid; Mancini, Grazia M S; Adams, Darius J; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A; Romano, Corrado; Calabrese, Giuseppe.
Afiliação
  • Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Li Y; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Shen L; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Wang T; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Jia X; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Liu L; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Xu T; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Ou M; Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.
  • Hoekzema K; Department of Neurobiology, Beijing Key Laboratory of Neural Regeneration and Repair, Beijing Laboratory of Brain Disorders (Ministry of Science and Technology), Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China.
  • Wu H; Institute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.
  • Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Liu C; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Ni H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Peng P; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Zhao R; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Zhang Y; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Phornphutkul C; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Stegmann APA; Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
  • Prada CE; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI, USA.
  • Hopkin RJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
  • Shieh JT; Department of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.
  • McWalter K; Department of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.
  • Monaghan KG; Institute for Human Genetics and Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • van Hasselt PM; GeneDx, Gaithersburg, MD, USA.
  • van Gassen K; GeneDx, Gaithersburg, MD, USA.
  • Bai T; University Medical Center Utrecht, Utrecht, Netherlands.
  • Long M; University Medical Center Utrecht, Utrecht, Netherlands.
  • Han L; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Quan Y; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Chen M; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Zhang Y; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Li K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Tan J; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Zhu T; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Liu Y; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Pang N; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Peng J; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Scott DA; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
  • Lalani SR; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
  • Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Mancini GMS; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
  • Adams DJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Kvarnung M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Lindstrand A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.
  • Nordgren A; Goryeb Children's Hospital, Atlantic Health System, Morristown, NJ, USA.
  • Pevsner J; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
  • Osei-Owusu IA; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Romano C; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
  • Calabrese G; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Sci Adv ; 5(9): eaax2166, 2019 09.
Article em En | MEDLINE | ID: mdl-31579823
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Variação Genética / Proteínas de Ligação a RNA / Transmissão Sináptica / Predisposição Genética para Doença / Proteínas de Ligação a DNA / Neurogênese Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Variação Genética / Proteínas de Ligação a RNA / Transmissão Sináptica / Predisposição Genética para Doença / Proteínas de Ligação a DNA / Neurogênese Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article