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J-GLOBAL ID：202102252734367198   Reference number：21A0023536

Knockdown of Son , a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities

ZTTK症候群遺伝子のマウス相同体であるSonのノックダウンはニューロン移動欠陥と樹状突起棘異常を引き起こす【JST・京大機械翻訳】

Author (11)： Ueda Masashi (Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan) ,  Matsuki Tohru (Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan) ,  Fukada Masahide (Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan) ,  Eda Shima (Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan) ,  Toya Akie (Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan) ,  Toya Akie (Department of Neurobiochemistry, Nagoya University School of Medicine, Nagoya, Japan) ,  Iio Akio (Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan) ,  Iio Akio (Biogate Co. Ltd., Yamagata, Gifu, Japan) ,  Tabata Hidenori (Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan) ,  Nakayama Atsuo (Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan) ,  Nakayama Atsuo (Department of Neurobiochemistry, Nagoya University School of Medicine, Nagoya, Japan)
Material： Molecular Brain (Web)
Volume： 13  Issue： 1  Page： 1-9  Publication year： 2020 
JST Material Number： U7335A  ISSN： 1756-6606  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Zhu-Tokita-Takenouchi-Kim (ZTT...

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Thesaurus term： heterojunction ,  *gene ,  protein ,  mutation ,  human(primates) ,  cortex(animal tissue) ,  vertebral column ,  intelligence disorder ,  wild type ,  neuropathy
Semi thesaurus term： *樹状突起棘 ,  神経発生 ,  神経前駆細胞 ,  皮質ニューロン ,  ハプロ不全 , 【Automatic Indexing@JST】

Author keywords (6)： SON ,  Zhu-Tokita-Takenouchi-Kim syndrome ,  Brain malformation ,  Intellectual disability ,  Neuronal migration ,  Spinogenesis

JST classification (4)： Genetic variation  (EC01030Y) ,  Nervous system diseases  (GN03000O) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Development(=generation)and differentiation  (EJ16020W)

Reference (23)：

• Am J Hum Genet; De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome; JH Kim, DN Shinde, MRF Reijnders; 99; 3; 2016; 711-719; 10.1016/j.ajhg.2016.06.029; citation_id=CR1
• Kidney Int; SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes; J Kim, EY Park, D Chitayat; 95; 6; 2019; 1494-1504; 10.1016/j.kint.2019.01.025; citation_id=CR2
• Am J Med Genet Part A; Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: possible contribution to Braddock-Carey syndrome phenotype; T Takenouchi, K Miura, T Uehara; 170; 10; 2016; 2587-2590; 10.1002/ajmg.a.37761; citation_id=CR3
• Am J Hum Genet; De novo truncating variants in SON cause intellectual disability, congenital malformations, and failure to thrive; MJ Tokita, AA Braxton, Y Shao; 99; 3; 2016; 720-727; 10.1016/j.ajhg.2016.06.035; citation_id=CR4
• Yang Y, Xu L, Yu Z, et al. Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T. Mol Genet Genomic Med. 2019. https://doi.org/10.1002/mgg3.953.

Terms in the title (9)： 症候群 ,  遺伝子 ,  マウス ,  相同体 ,  SON ,  ノックダウン ,  ニューロン移動 ,  欠陥 ,  樹状突起棘