Art

J-GLOBAL ID：202002230578144679   Reference number：20A1932810

Functional Validation of CLDN Variants Identified in a Neural Tube Defect Cohort Demonstrates Their Contribution to Neural Tube Defects

神経管欠損コホートで同定されたCLDN変異体の機能的検証は神経管欠損への寄与を示す【JST・京大機械翻訳】

Author (7)： Baumholtz Amanda I. (Department of Human Genetics, McGill University, Montreal, QC, Canada) ,  Baumholtz Amanda I. (The Research Institute of the McGill University Health Centre, Montreal, QC, Canada) ,  De Marco Patrizia (Laboratorio di Neurogenetica e Neuroscienze, Istituto Giannina Gaslini, Genoa, Italy) ,  Capra Valeria (U.O. Neurochirurgia, Istituto Giannina Gaslini, Genoa, Italy) ,  Ryan Aimee K. (Department of Human Genetics, McGill University, Montreal, QC, Canada) ,  Ryan Aimee K. (The Research Institute of the McGill University Health Centre, Montreal, QC, Canada) ,  Ryan Aimee K. (Department of Pediatrics, McGill University, Montreal, QC, Canada)
Material： Frontiers in Neuroscience (Web)
Volume： 14  Page： 664  Publication year： 2020 
JST Material Number： U7087A  ISSN： 1662-453X  Document type： Article
Article type： 原著論文  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： Neural tube defects (NTDs) are...

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Thesaurus term： heredity ,  spinal cord ,  Vertebrata ,  central nervous system ,  human(primates) ,  pathogenicity ,  *population(statistics) ,  missense mutation ,  pathogenesis ,  risk factor
Semi thesaurus term： 密着結合 ,  ニワトリ胚 ,  クラウジン ,  遺伝的変異 ,  過剰発現 , 【Automatic Indexing@JST】

Author keywords (5)： claudin ,  tight junction ,  neural tube defects ,  myelomeningocele ,  fluidigm

JST classification (3)： Development(=generation)and differentiation  (EJ16020W) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Vitamin B group  (EB07030L)

Reference (96)：

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• Anderson W. J., Zhou Q., Alcalde V., Kaneko O. F., Blank L. J., Sherwood R. I., et al (2008). Genetic targeting of the endoderm with claudin-6CreER. Dev. Dyn. 237 504-512. doi: 10.1002/dvdy.21437
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Terms in the title (5)： 神経管欠損 ,  コホート ,  同定 ,  変異体 ,  検証